#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	978953	978953	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:978953G>A	ENST00000379370.2	+	9	1689	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	547	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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.E547K(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)		AGCCCTGTGCGAGGCCGAGAC	0.692																																						uc001ack.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(1639-1641)GAG>AAG		agrin precursor							47.0	52.0	50.0					1																	978953		2203	4297	6500	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.chr1:978953G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1639G>A	1.37:g.978953G>A	ENSP00000368678:p.Glu547Lys						p.E547K	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)	9	1689	+	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)	547			Kazal-like 6.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.1639G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103200	0.76983	.	.	ENSG00000188157	ENST00000379370	T	0.76968	-1.06	4.17	4.17	0.49024	.	0.077440	0.49916	D	0.000127	D	0.84692	0.5528	L	0.50333	1.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.85954	0.1466	10	0.52906	T	0.07	-30.6562	16.8485	0.85987	0.0:0.0:1.0:0.0	.	547	O00468	AGRIN_HUMAN	K	547	ENSP00000368678:E547K	ENSP00000368678:E547K	E	+	1	0	AGRN	968816	1.000000	0.71417	0.977000	0.42913	0.662000	0.39071	9.123000	0.94387	2.032000	0.59987	0.655000	0.94253	GAG		PASS	0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		5	78	5	78	---	---	---	---
AGRN	375790	broad.mit.edu	37	1	982720	982720	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:982720C>A	ENST00000379370.2	+	20	3452	c.3402C>A	c.(3400-3402)ttC>ttA	p.F1134L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1134	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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.F1134L(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)		CCAAGGTGTTCCAGGGCGTCC	0.657																																						uc001ack.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(3400-3402)TTC>TTA		agrin precursor							56.0	52.0	53.0					1																	982720		2202	4300	6502	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.chr1:982720C>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.3402C>A	1.37:g.982720C>A	ENSP00000368678:p.Phe1134Leu						p.F1134L	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)	20	3452	+	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)	1134			SEA.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.3402C>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381458	0.82792	.	.	ENSG00000188157	ENST00000379370	T	0.45276	0.9	4.16	4.16	0.48862	SEA (3);	0.000000	0.64402	D	0.000001	T	0.52435	0.1734	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.56950	-0.7894	10	0.59425	D	0.04	-23.3913	17.0319	0.86463	0.0:1.0:0.0:0.0	.	1134	O00468	AGRIN_HUMAN	L	1134	ENSP00000368678:F1134L	ENSP00000368678:F1134L	F	+	3	2	AGRN	972583	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	5.380000	0.66202	2.336000	0.79503	0.550000	0.68814	TTC		PASS	0.657	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		19	64	19	64	---	---	---	---
GPR157	80045	broad.mit.edu	37	1	9188713	9188713	+	Missense_Mutation	SNP	T	T	A	rs368428044		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:9188713T>A	ENST00000377411.4	-	1	516	c.374A>T	c.(373-375)cAt>cTt	p.H125L	GPR157_ENST00000414642.2_Missense_Mutation_p.H125L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H125L(1)		lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CCTGACGACATGGAAGGCCCA	0.667																																						uc001apq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)CAT>CTT		G protein-coupled receptor 157							17.0	19.0	19.0					1																	9188713		2193	4290	6483	SO:0001583	missense	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9188713T>A	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.374A>T	1.37:g.9188713T>A	ENSP00000366628:p.His125Leu					GPR157_uc010oad.1_Missense_Mutation_p.H125L|GPR157_uc001apr.2_Missense_Mutation_p.H125L|GPR157_uc001aps.2_Silent_p.P173P	p.H125L	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	1	517	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	125			Helical; Name=4; (Potential).		A2A334|Q8WWB8|Q9HA73	Missense_Mutation	SNP	ENST00000377411.4	37	c.374A>T	CCDS100.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	18.21|18.21	3.573719|3.573719	0.65765|0.65765	.|.	.|.	ENSG00000180758|ENSG00000180758	ENST00000377411;ENST00000414642|ENST00000377408	T;T|.	0.32515|.	1.45;1.45|.	4.19|4.19	4.19|4.19	0.49359|0.49359	GPCR, family 2-like (1);GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75428|0.75428	0.3848|0.3848	M|M	0.81942|0.81942	2.565|2.565	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.995;0.999;0.999|.	T|T	0.79711|0.79711	-0.1689|-0.1689	9|6	.|0.87932	.|D	.|0	-32.9409|-32.9409	12.7245|12.7245	0.57162|0.57162	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	125;125;125|.	E7ENU8;A8KA23;Q5UAW9|.	.;.;GP157_HUMAN|.	L|L	125|122	ENSP00000366628:H125L;ENSP00000411172:H125L|.	.|ENSP00000366625:M122L	H|M	-|-	2|1	0|0	GPR157|GPR157	9111300|9111300	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.261000|0.261000	0.26267|0.26267	6.816000|6.816000	0.75247|0.75247	1.674000|1.674000	0.50907|0.50907	0.375000|0.375000	0.23000|0.23000	CAT|ATG		PASS	0.667	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		15	26	15	26	---	---	---	---
ALPL	249	broad.mit.edu	37	1	21894615	21894615	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:21894615C>T	ENST00000374840.3	+	7	917	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	ALPL_ENST00000425315.2_Missense_Mutation_p.R223W|ALPL_ENST00000374832.1_Missense_Mutation_p.R223W|ALPL_ENST00000539907.1_Missense_Mutation_p.R146W|ALPL_ENST00000540617.1_Missense_Mutation_p.R168W|ALPL_ENST00000374830.1_5'Flank	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	223			R -> Q (in HOPS). {ECO:0000269|PubMed:11855933, ECO:0000269|PubMed:15694177}.|R -> W (in HOPS; 3% of activity; severe allele). {ECO:0000269|PubMed:10332035, ECO:0000269|PubMed:11760847, ECO:0000269|PubMed:11855933, ECO:0000269|PubMed:15694177, ECO:0000269|PubMed:9781036}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.R223W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGGGGGTGGCCGGAAATACAT	0.557																																						uc001bet.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5	GRCh37	CM980070	ALPL	M		c.(667-669)CGG>TGG		tissue-nonspecific alkaline phosphatase	Amifostine(DB01143)						88.0	91.0	90.0					1																	21894615		2203	4300	6503	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21894615C>T	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.667C>T	1.37:g.21894615C>T	ENSP00000363973:p.Arg223Trp					ALPL_uc010odn.1_Missense_Mutation_p.R171W|ALPL_uc010odo.1_Missense_Mutation_p.R168W|ALPL_uc010odp.1_Missense_Mutation_p.R146W|ALPL_uc001beu.3_Missense_Mutation_p.R223W	p.R223W	NM_000478	NP_000469	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	7	924	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	223		R -> Q (in HOPS).|R -> W (in HOPS; 3% of activity; severe allele).			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.667C>T	CCDS217.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415755	0.62511	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41	3.84	3.84	0.44239	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.87827	2.91	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.98411	1.0572	10	0.87932	D	0	-5.2822	10.2931	0.43608	0.1973:0.8027:0.0:0.0	.	146;171;223	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	W	146;168;223;223;223	ENSP00000437674:R146W;ENSP00000442672:R168W;ENSP00000363973:R223W;ENSP00000363965:R223W;ENSP00000394765:R223W	ENSP00000363965:R223W	R	+	1	2	ALPL	21767202	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.966000	0.40481	2.140000	0.66376	0.462000	0.41574	CGG		PASS	0.557	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		28	88	28	88	---	---	---	---
INPP5B	3633	broad.mit.edu	37	1	38330016	38330016	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:38330016G>A	ENST00000373026.1	-	22	2834	c.2834C>T	c.(2833-2835)tCa>tTa	p.S945L	INPP5B_ENST00000373023.2_Missense_Mutation_p.S945L|INPP5B_ENST00000373027.1_Missense_Mutation_p.S701L|INPP5B_ENST00000373024.3_Missense_Mutation_p.S865L|RP11-109P14.10_ENST00000419993.1_RNA			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	945	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.S945L(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTTTTTGCTGAATTTTTCAG	0.398																																						uc001ccg.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(2593-2595)TCA>TTA		inositol polyphosphate-5-phosphatase, 75kDa							83.0	73.0	76.0					1																	38330016		1818	4088	5906	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38330016G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2834C>T	1.37:g.38330016G>A	ENSP00000362117:p.Ser945Leu					INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccf.1_Missense_Mutation_p.S701L	p.S865L	NM_005540	NP_005531	P32019	I5P2_HUMAN			23	2688	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	945			Rho-GAP.		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2594C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.206939	0.95033	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373026;ENST00000373024	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.49	5.49	0.81192	.	0.064406	0.64402	D	0.000005	T	0.58409	0.2120	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.64067	-0.6494	10	0.66056	D	0.02	.	19.7445	0.96247	0.0:0.0:1.0:0.0	.	865	P32019-2	.	L	701;945;945;865	ENSP00000362118:S701L;ENSP00000362114:S945L;ENSP00000362117:S945L;ENSP00000362115:S865L	ENSP00000362114:S945L	S	-	2	0	INPP5B	38102603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.717000	0.91425	2.739000	0.93911	0.655000	0.94253	TCA		PASS	0.398	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		6	50	6	50	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43870165	43870165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:43870165G>T	ENST00000562955.1	+	4	442	c.442G>T	c.(442-444)Gag>Tag	p.E148*	SZT2_ENST00000372450.4_Nonsense_Mutation_p.E146*|SZT2_ENST00000310739.4_Nonsense_Mutation_p.E148*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	148					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.E148*(1)|p.E146*(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTTCCAGCCTGAGATCTATGT	0.517																																						uc009vws.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(442-444)GAG>TAG		Homo sapiens mRNA for KIAA0467 protein, partial cds.							129.0	112.0	118.0					1																	43870165		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43870165G>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.442G>T	1.37:g.43870165G>T	ENSP00000457168:p.Glu148*					C1orf84_uc001cjh.2_Nonsense_Mutation_p.E146*|C1orf84_uc001cji.1_RNA	p.E148*			Q5T011	SZT2_HUMAN			4	526	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	148					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.442G>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235076	0.79800	.	.	ENSG00000223526	ENST00000372450;ENST00000310739;ENST00000357658	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	.	.	.	X	146;148;148	.	ENSP00000312234:E148X	E	+	1	0	AL139289.1	43642752	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.042000	0.70996	2.735000	0.93741	0.655000	0.94253	GAG		PASS	0.517	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		60	127	60	127	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45293826	45293826	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:45293826C>T	ENST00000372192.3	-	14	1877	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	PTCH2_ENST00000447098.2_Missense_Mutation_p.E583K	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	583					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.E583K(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCCCCCAGCTCCTGGGGCAGG	0.582									Basal Cell Nevus syndrome																													uc010olf.1																			1	Substitution - Missense(1)		lung(1)	lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(1747-1749)GAG>AAG		patched 2							61.0	66.0	65.0					1																	45293826		2203	4300	6503	SO:0001583	missense	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293826C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1747G>A	1.37:g.45293826C>T	ENSP00000361266:p.Glu583Lys					PTCH2_uc010olg.1_Missense_Mutation_p.E281K	p.E583K	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			14	1759	-	Acute lymphoblastic leukemia(166;0.155)		583			Cytoplasmic (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1747G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241782	0.22711	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92647	-3.06;-3.08	4.88	4.88	0.63580	.	0.000000	0.53938	D	0.000041	D	0.87645	0.6229	L	0.43923	1.385	0.51767	D	0.999934	B;B	0.26775	0.062;0.159	B;B	0.25405	0.038;0.06	D	0.83917	0.0299	10	0.06757	T	0.87	-29.2084	17.6509	0.88163	0.0:1.0:0.0:0.0	.	583;583	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	K	583	ENSP00000389703:E583K;ENSP00000361266:E583K	ENSP00000361266:E583K	E	-	1	0	PTCH2	45066413	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	4.984000	0.63838	2.252000	0.74401	0.557000	0.71058	GAG		PASS	0.582	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		4	118	4	118	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86210415	86210415	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:86210415C>A	ENST00000370571.2	-	57	4972	c.4606G>T	c.(4606-4608)Ggc>Tgc	p.G1536C	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1515C	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1536	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G1536C(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCTCGTGTGCCAAGAGGATTC	0.383																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4606-4608)GGC>TGC		collagen, type XXIV, alpha 1 precursor							195.0	181.0	185.0					1																	86210415		1883	4106	5989	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210415C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4606G>T	1.37:g.86210415C>A	ENSP00000359603:p.Gly1536Cys					COL24A1_uc001dli.2_Missense_Mutation_p.G651C|COL24A1_uc010osd.1_Missense_Mutation_p.G836C|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.G1536C	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	4648	-			1536			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4606G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696822	0.68386	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.90133	-2.62;-2.62	5.49	5.49	0.81192	Fibrillar collagen, C-terminal (3);	0.000000	0.41001	D	0.000980	D	0.97222	0.9092	H	0.96748	3.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98001	1.0360	10	0.87932	D	0	.	19.7394	0.96219	0.0:1.0:0.0:0.0	.	1536;1515	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	C	1536;1515	ENSP00000359603:G1536C;ENSP00000392531:G1515C	ENSP00000359603:G1536C	G	-	1	0	COL24A1	85983003	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.740000	0.93945	0.563000	0.77884	GGC		PASS	0.383	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		69	172	69	172	---	---	---	---
SLC35A3	23443	broad.mit.edu	37	1	100477024	100477024	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:100477024G>A	ENST00000370155.3	+	5	961	c.569G>A	c.(568-570)gGg>gAg	p.G190E	SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Missense_Mutation_p.G190E|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G190E|SLC35A3_ENST00000370153.1_Missense_Mutation_p.G232E	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	190					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)	p.G190E(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		GGCTTTGCTGGGGTTTACTTT	0.338																																					Ovarian(7;298 356 944 2149 6911)	uc001dsp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)GGG>GAG		solute carrier family 35 member 3A							71.0	73.0	73.0					1																	100477024		2203	4300	6503	SO:0001583	missense	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100477024G>A	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.569G>A	1.37:g.100477024G>A	ENSP00000359174:p.Gly190Glu					SLC35A3_uc001dsq.1_Missense_Mutation_p.G190E|SLC35A3_uc009wdy.1_Missense_Mutation_p.G190E|SLC35A3_uc001dsr.1_Missense_Mutation_p.G232E|SLC35A3_uc001dss.1_Missense_Mutation_p.G109E	p.G190E	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	5	766	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	190					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	c.569G>A	CCDS762.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596862	0.86953	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.47	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.88551	0.3116	10	0.87932	D	0	-24.9865	16.3773	0.83410	0.0:0.1319:0.8681:0.0	.	190;231;190	Q9BSB7;Q9Y2D2-2;Q9Y2D2	.;.;S35A3_HUMAN	E	190;190;190;232;190	ENSP00000359174:G190E;ENSP00000418527:G190E;ENSP00000414947:G190E;ENSP00000359172:G232E;ENSP00000401679:G190E	ENSP00000359172:G232E	G	+	2	0	SLC35A3	100249612	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.809000	0.99208	1.310000	0.45006	0.585000	0.79938	GGG		PASS	0.338	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		13	128	13	128	---	---	---	---
VCAM1	7412	broad.mit.edu	37	1	101188862	101188862	+	Silent	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:101188862A>T	ENST00000294728.2	+	3	728	c.627A>T	c.(625-627)acA>acT	p.T209T	VCAM1_ENST00000347652.2_Silent_p.T209T|VCAM1_ENST00000370115.1_Silent_p.T209T|VCAM1_ENST00000370119.4_Silent_p.T147T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	209	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.T209T(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGTGCCCACAGTAAGGCAGG	0.403																																						uc001dti.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(625-627)ACA>ACT		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						105.0	103.0	104.0					1																	101188862		2203	4299	6502	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101188862A>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.627A>T	1.37:g.101188862A>T						VCAM1_uc001dtj.2_Silent_p.T209T|VCAM1_uc010ouj.1_Silent_p.T147T	p.T209T	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	3	747	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	209			Ig-like C2-type 2.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.627A>T	CCDS773.1																																																																																				PASS	0.403	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		45	124	45	124	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118558758	118558758	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:118558758G>A	ENST00000336338.5	-	29	4182	c.4117C>T	c.(4117-4119)Cat>Tat	p.H1373Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1373						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.H1373Y(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGAGGGTCATGGATTTCACCC	0.418																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4117-4119)CAT>TAT		sperm associated antigen 17							149.0	146.0	147.0					1																	118558758		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118558758G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4117C>T	1.37:g.118558758G>A	ENSP00000337804:p.His1373Tyr						p.H1373Y	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	29	4185	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1373					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4117C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951998	0.53293	.	.	ENSG00000155761	ENST00000336338	T	0.19105	2.17	4.72	3.79	0.43588	.	1.225580	0.05418	N	0.543783	T	0.14399	0.0348	L	0.57536	1.79	0.23537	N	0.997469	P	0.46912	0.886	B	0.44133	0.442	T	0.11036	-1.0604	10	0.52906	T	0.07	.	9.4402	0.38664	0.1016:0.0:0.8984:0.0	.	1373	Q6Q759	SPG17_HUMAN	Y	1373	ENSP00000337804:H1373Y	ENSP00000337804:H1373Y	H	-	1	0	SPAG17	118360281	0.962000	0.33011	0.957000	0.39632	0.096000	0.18686	2.024000	0.41049	2.194000	0.70268	0.460000	0.39030	CAT		PASS	0.418	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		44	132	44	132	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145566772	145566772	+	Silent	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:145566772G>T	ENST00000355594.4	+	11	2961	c.2874G>T	c.(2872-2874)ctG>ctT	p.L958L		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	958								p.L958L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCTGCAGCTGCAGGTATGTT	0.498																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2872-2874)CTG>CTT		ankyrin repeat domain 35							81.0	77.0	79.0					1																	145566772		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145566772G>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2874G>T	1.37:g.145566772G>T						NBPF10_uc001emp.3_Intron	p.L958L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			11	2982	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		958			Potential.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.2874G>T	CCDS919.1																																																																																				PASS	0.498	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		4	71	4	71	---	---	---	---
TTC24	164118	broad.mit.edu	37	1	156554721	156554721	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:156554721G>A	ENST00000368237.3	+	6	1304	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Missense_Mutation_p.G435E|TTC24_ENST00000478081.1_3'UTR			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	435								p.G435E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGCGGAGGGGACCCCAGCA	0.612																																						uc009wsc.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(463-465)GGG>GAG		tetratricopeptide repeat domain 24							20.0	23.0	22.0					1																	156554721		2048	4201	6249	SO:0001583	missense	164118						binding	g.chr1:156554721G>A		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1304G>A	1.37:g.156554721G>A	ENSP00000357220:p.Gly435Glu						p.G155E	NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN			5	604	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		435					Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	c.464G>A	CCDS53379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.805|7.805	0.714443|0.714443	0.15306|0.15306	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000368236;ENST00000368237;ENST00000413282|ENST00000340086	T;T|T	0.24538|0.25085	1.85;1.85|1.82	2.98|2.98	-1.29|-1.29	0.09288|0.09288	.|.	0.651748|0.651748	0.12032|0.12032	N|N	0.505894|0.505894	T|T	0.03959|0.03959	0.0111|0.0111	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.09377|.	0.004|.	T|T	0.42849|0.42849	-0.9427|-0.9427	10|8	0.06365|0.17369	T|T	0.9|0.5	-1.4956|-1.4956	3.4099|3.4099	0.07355|0.07355	0.3921:0.2061:0.4018:0.0|0.3921:0.2061:0.4018:0.0	.|.	435|.	A2A3L6|.	TTC24_HUMAN|.	E|R	435;435;161|208	ENSP00000357219:G435E;ENSP00000357220:G435E|ENSP00000339487:G208R	ENSP00000357219:G435E|ENSP00000339487:G208R	G|G	+|+	2|1	0|0	TTC24|TTC24	154821345|154821345	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.110000|0.110000	0.15437|0.15437	-0.285000|-0.285000	0.09089|0.09089	-1.147000|-1.147000	0.01851|0.01851	GGG|GGA		PASS	0.612	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		5	11	5	11	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158262570	158262570	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:158262570G>T	ENST00000368170.3	+	4	1074	c.795G>T	c.(793-795)caG>caT	p.Q265H		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	265	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.Q265H(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGTATCTTCAGGTGATCCTGG	0.517																																						uc001fru.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(793-795)CAG>CAT		CD1C antigen precursor							115.0	113.0	114.0					1																	158262570		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262570G>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.795G>T	1.37:g.158262570G>T	ENSP00000357152:p.Gln265His					CD1C_uc001frv.2_Missense_Mutation_p.Q68H	p.Q265H	NM_001765	NP_001756	P29017	CD1C_HUMAN			4	1087	+	all_hematologic(112;0.0378)		265			Extracellular (Potential).|Ig-like.		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.795G>T	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	14.11|14.11	2.438075|2.438075	0.43326|0.43326	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000443761|ENST00000368169;ENST00000368170;ENST00000454192	.|T	.|0.13307	.|2.6	3.82|3.82	-4.92|-4.92	0.03075|0.03075	.|Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	.|1.157110	.|0.06735	.|N	.|0.777388	T|T	0.04543|0.04543	0.0124|0.0124	L|L	0.43646|0.43646	1.37|1.37	0.09310|0.09310	N|N	1|1	.|P;P	.|0.43231	.|0.801;0.585	.|B;P	.|0.46208	.|0.439;0.507	T|T	0.20874|0.20874	-1.0262|-1.0262	5|10	.|0.87932	.|D	.|0	.|.	1.0815|1.0815	0.01644|0.01644	0.3695:0.2619:0.2319:0.1367|0.3695:0.2619:0.2319:0.1367	.|.	.|265;265	.|E9PGC9;P29017	.|.;CD1C_HUMAN	C|H	200|265;265;68	.|ENSP00000357152:Q265H	.|ENSP00000357151:Q265H	G|Q	+|+	1|3	0|2	CD1C|CD1C	156529194|156529194	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.180000|0.180000	0.23129|0.23129	-2.173000|-2.173000	0.01265|0.01265	-0.944000|-0.944000	0.03686|0.03686	0.650000|0.650000	0.86243|0.86243	GGT|CAG		PASS	0.517	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		15	135	15	135	---	---	---	---
CD1E	913	broad.mit.edu	37	1	158324246	158324246	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:158324246C>T	ENST00000368167.3	+	2	377	c.138C>T	c.(136-138)gcC>gcT	p.A46A	CD1E_ENST00000368165.3_Silent_p.A46A|CD1E_ENST00000368163.3_Silent_p.A46A|CD1E_ENST00000368156.1_Silent_p.A46A|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368160.3_Silent_p.A46A|CD1E_ENST00000368161.3_Silent_p.A46A|CD1E_ENST00000368155.3_Silent_p.A46A|CD1E_ENST00000434258.1_Silent_p.A44A	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	46					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.A46A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCTCCTTTGCCAACCACAGCT	0.567																																						uc001fse.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(136-138)GCC>GCT		CD1E antigen isoform a precursor							96.0	100.0	98.0					1																	158324246		2181	4297	6478	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324246C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.138C>T	1.37:g.158324246C>T						CD1E_uc010pid.1_Silent_p.A44A|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.A46A|CD1E_uc001fsk.2_Silent_p.A46A|CD1E_uc001fsj.2_Silent_p.A46A|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.A46A|CD1E_uc001fry.2_Silent_p.A46A|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.A46A|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Silent_p.A46A|CD1E_uc009wsw.2_5'Flank	p.A46A	NM_030893	NP_112155	P15812	CD1E_HUMAN			2	377	+	all_hematologic(112;0.0378)		46					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.138C>T	CCDS41417.1																																																																																				PASS	0.567	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		25	205	25	205	---	---	---	---
OR10T2	128360	broad.mit.edu	37	1	158368476	158368476	+	Silent	SNP	G	G	T	rs372699275	byFrequency	TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:158368476G>T	ENST00000334438.1	-	1	780	c.781C>A	c.(781-783)Cgg>Agg	p.R261R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261W(1)|p.R261R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GACTTGGGCCGCAGATAGATG	0.512																																						uc010pih.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(2)|central_nervous_system(1)	3						c.(781-783)CGG>AGG		olfactory receptor, family 10, subfamily T,							100.0	87.0	91.0					1																	158368476		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368476G>T	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.781C>A	1.37:g.158368476G>T							p.R261R	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	781	-	all_hematologic(112;0.0378)		261			Extracellular (Potential).		Q6IF98	Silent	SNP	ENST00000334438.1	37	c.781C>A	CCDS30895.1																																																																																				PASS	0.512	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		12	65	12	65	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158650461	158650461	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:158650461T>C	ENST00000368147.4	-	5	770	c.590A>G	c.(589-591)cAt>cGt	p.H197R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	197					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.H197R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAATTTCTTATGCAGAACTTC	0.478																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(589-591)CAT>CGT		spectrin, alpha, erythrocytic 1							126.0	124.0	125.0					1																	158650461		1892	4124	6016	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650461T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.590A>G	1.37:g.158650461T>C	ENSP00000357129:p.His197Arg						p.H197R	NM_003126	NP_003117	P02549	SPTA1_HUMAN			5	789	-	all_hematologic(112;0.0378)		197			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.590A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.545107	0.45280	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.33654	1.4;1.4	5.07	5.07	0.68467	.	0.251876	0.20810	N	0.085276	T	0.11922	0.0290	N	0.24115	0.695	0.40149	D	0.976922	B	0.18013	0.025	B	0.26094	0.066	T	0.06643	-1.0815	10	0.10111	T	0.7	.	13.8222	0.63329	0.0:0.0:0.0:1.0	.	197	P02549	SPTA1_HUMAN	R	197	ENSP00000357130:H197R;ENSP00000357129:H197R	ENSP00000357129:H197R	H	-	2	0	SPTA1	156917085	1.000000	0.71417	0.998000	0.56505	0.427000	0.31564	5.546000	0.67243	2.124000	0.65301	0.528000	0.53228	CAT		PASS	0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		19	209	19	209	---	---	---	---
SLAMF9	89886	broad.mit.edu	37	1	159921550	159921550	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:159921550G>C	ENST00000368093.3	-	4	887	c.771C>G	c.(769-771)atC>atG	p.I257M	SLAMF9_ENST00000368092.3_Missense_Mutation_p.I166M|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	257						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I257M(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGGACTCGGATGACCCAGA	0.498																																						uc001fus.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(769-771)ATC>ATG		SLAM family member 9 isoform 1							127.0	117.0	121.0					1																	159921550		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159921550G>C	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.771C>G	1.37:g.159921550G>C	ENSP00000357072:p.Ile257Met					SLAMF9_uc009wtd.2_Missense_Mutation_p.I166M|SLAMF9_uc001fut.2_3'UTR	p.I257M	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	888	-	all_hematologic(112;0.093)		257			Helical; (Potential).		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.771C>G	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063663	0.36373	.	.	ENSG00000162723	ENST00000368093;ENST00000368092	T;T	0.38887	1.11;1.34	5.04	0.869	0.19096	.	7.390310	0.00166	N	0.000008	T	0.25195	0.0612	L	0.57536	1.79	0.09310	N	1	P;P	0.39157	0.662;0.531	B;B	0.42386	0.386;0.215	T	0.12528	-1.0544	9	.	.	.	-14.3683	6.0868	0.19973	0.4422:0.0:0.5578:0.0	.	166;257	Q96A28-2;Q96A28	.;SLAF9_HUMAN	M	257;166	ENSP00000357072:I257M;ENSP00000357071:I166M	.	I	-	3	3	SLAMF9	158188174	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.321000	0.19558	0.318000	0.23185	0.655000	0.94253	ATC		PASS	0.498	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		38	257	38	257	---	---	---	---
ITLN2	142683	broad.mit.edu	37	1	160917807	160917807	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:160917807C>A	ENST00000368029.3	-	7	794	c.737G>T	c.(736-738)gGa>gTa	p.G246V	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	246	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.G246V(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGAACGAATCCTGCAACAAA	0.468																																						uc001fxd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(736-738)GGA>GTA		intelectin 2 precursor							99.0	89.0	93.0					1																	160917807		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160917807C>A	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.737G>T	1.37:g.160917807C>A	ENSP00000357008:p.Gly246Val					ITLN2_uc009wts.2_Missense_Mutation_p.G245V|ITLN2_uc010pju.1_Missense_Mutation_p.G163V	p.G246V	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	795	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		246			Fibrinogen C-terminal.		Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.737G>T	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446464	0.43429	.	.	ENSG00000158764	ENST00000368029	T	0.22945	1.93	4.64	4.64	0.57946	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.48767	U	0.000162	T	0.50360	0.1611	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71184	0.972;0.972	T	0.62779	-0.6782	10	0.87932	D	0	-0.1501	15.3418	0.74303	0.0:1.0:0.0:0.0	.	245;246	A6NI51;Q8WWU7	.;ITLN2_HUMAN	V	246	ENSP00000357008:G246V	ENSP00000357008:G246V	G	-	2	0	ITLN2	159184431	1.000000	0.71417	0.986000	0.45419	0.020000	0.10135	5.414000	0.66405	2.244000	0.73946	0.555000	0.69702	GGA		PASS	0.468	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		42	98	42	98	---	---	---	---
GPR161	23432	broad.mit.edu	37	1	168054995	168054995	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:168054995A>G	ENST00000367838.1	-	8	1677	c.1364T>C	c.(1363-1365)gTa>gCa	p.V455A	GPR161_ENST00000546300.1_Missense_Mutation_p.V341A|GPR161_ENST00000367836.1_Missense_Mutation_p.V323A|GPR161_ENST00000539777.1_Missense_Mutation_p.V377A|GPR161_ENST00000537209.1_Missense_Mutation_p.V475A|GPR161_ENST00000271357.5_Missense_Mutation_p.V455A|GPR161_ENST00000367835.1_Missense_Mutation_p.V455A|GPR161_ENST00000361697.2_Missense_Mutation_p.V455A	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	455					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.V455A(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GGACTTGTGTACTTCAGCTTT	0.517																																						uc001gfc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1363-1365)GTA>GCA		G protein-coupled receptor 161 isoform 2							54.0	49.0	51.0					1																	168054995		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168054995A>G	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1364T>C	1.37:g.168054995A>G	ENSP00000356812:p.Val455Ala					GPR161_uc001gfb.2_Missense_Mutation_p.V323A|GPR161_uc010pll.1_Missense_Mutation_p.V365A|GPR161_uc010plm.1_Missense_Mutation_p.V341A|GPR161_uc009wvo.2_Missense_Mutation_p.V472A|GPR161_uc001gfd.2_Missense_Mutation_p.V455A|GPR161_uc010pln.1_Missense_Mutation_p.V475A	p.V455A	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			8	1678	-	all_hematologic(923;0.215)		455			Cytoplasmic (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.1364T>C	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657123	0.47467	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;D;T;T;T;T;T	0.82433	-0.14;-0.14;-1.61;-0.14;-1.14;-1.13;-0.05;-0.14	5.96	5.96	0.96718	.	0.196490	0.44285	D	0.000468	T	0.65984	0.2744	L	0.44542	1.39	0.35568	D	0.805211	P;P;B;P;B	0.39022	0.655;0.524;0.11;0.524;0.006	B;B;B;B;B	0.35039	0.194;0.138;0.028;0.095;0.007	T	0.74757	-0.3557	9	0.66056	D	0.02	-19.9155	10.4561	0.44550	0.9271:0.0:0.0729:0.0	.	475;341;377;475;455	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8	.;.;.;.;GP161_HUMAN	A	455;455;323;455;341;377;475;455	ENSP00000356812:V455A;ENSP00000271357:V455A;ENSP00000356810:V323A;ENSP00000356809:V455A;ENSP00000444348:V341A;ENSP00000437576:V377A;ENSP00000441039:V475A;ENSP00000355194:V455A	ENSP00000271357:V455A	V	-	2	0	GPR161	166321619	0.999000	0.42202	0.903000	0.35520	0.703000	0.40648	5.787000	0.69013	2.278000	0.76064	0.533000	0.62120	GTA		PASS	0.517	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		21	86	21	86	---	---	---	---
F5	2153	broad.mit.edu	37	1	169555541	169555541	+	Silent	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:169555541C>A	ENST00000367797.3	-	1	285	c.84G>T	c.(82-84)gcG>gcT	p.A28A	F5_ENST00000367796.3_Silent_p.A28A|F5_ENST00000546081.1_5'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	28					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.A28A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTAGCTGTGCCGCTTCTGTCC	0.617																																						uc001ggg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(82-84)GCG>GCT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						75.0	57.0	63.0					1																	169555541		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169555541C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.84G>T	1.37:g.169555541C>A						F5_uc010plr.1_RNA	p.A28A	NM_000130	NP_000121	P12259	FA5_HUMAN			1	229	-	all_hematologic(923;0.208)		28					A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.84G>T	CCDS1281.1																																																																																				PASS	0.617	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		22	53	22	53	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173516829	173516829	+	Splice_Site	SNP	A	A	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:173516829A>C	ENST00000367714.3	-	13	1978	c.1556T>G	c.(1555-1557)aTg>aGg	p.M519R	SLC9C2_ENST00000536496.1_Splice_Site_p.M417R|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	519					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.M519R(1)									AGCACCAACCATTTGTATTGC	0.358																																						uc001giz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1555-1557)ATG>AGG		solute carrier family 9, member 11							157.0	139.0	145.0					1																	173516829		2203	4300	6503	SO:0001630	splice_region_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173516829A>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1557+1T>G	1.37:g.173516829A>C						SLC9A11_uc009wwe.2_Missense_Mutation_p.M77R|SLC9A11_uc010pmq.1_RNA	p.M519R	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			13	1979	-			519					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1556T>G	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.848686	0.51164	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.23552	1.9;1.9	5.5	4.37	0.52481	.	0.170351	0.41194	D	0.000933	T	0.13586	0.0329	L	0.51422	1.61	0.30398	N	0.780273	D	0.54397	0.966	P	0.50440	0.641	T	0.06698	-1.0812	10	0.18276	T	0.48	-19.8525	8.091	0.30801	0.9083:0.0:0.0917:0.0	.	519	Q5TAH2	S9A11_HUMAN	R	519;417	ENSP00000356687:M519R;ENSP00000445437:M417R	ENSP00000356687:M519R	M	-	2	0	SLC9A11	171783452	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	2.659000	0.46741	0.915000	0.36847	0.460000	0.39030	ATG		PASS	0.358	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	Missense_Mutation	39	119	39	119	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175292496	175292496	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:175292496G>A	ENST00000367674.2	-	23	4782	c.4074C>T	c.(4072-4074)ttC>ttT	p.F1358F	TNR_ENST00000263525.2_Silent_p.F1358F|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1358					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.F1358F(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCACTGCTCAGAACTGTAAGG	0.458																																						uc001gkp.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(4072-4074)TTC>TTT		tenascin R precursor							128.0	119.0	122.0					1																	175292496		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175292496G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.4074C>T	1.37:g.175292496G>A						TNR_uc009wwu.1_Silent_p.F1358F	p.F1358F	NM_003285	NP_003276	Q92752	TENR_HUMAN			21	4155	-	Renal(580;0.146)		1358					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.4074C>T	CCDS1318.1																																																																																				PASS	0.458	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		26	147	26	147	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181707532	181707532	+	Silent	SNP	G	G	A	rs567758950		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:181707532G>A	ENST00000367573.2	+	24	3582	c.3582G>A	c.(3580-3582)acG>acA	p.T1194T	CACNA1E_ENST00000357570.5_Silent_p.T1145T|CACNA1E_ENST00000360108.3_Silent_p.T1175T|CACNA1E_ENST00000358338.5_Silent_p.T1126T|CACNA1E_ENST00000367570.1_Silent_p.T1194T|CACNA1E_ENST00000367567.4_Silent_p.T801T|CACNA1E_ENST00000526775.1_Silent_p.T1175T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1194					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.T1194T(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGTGTTCACGGGCGTGTTCA	0.473																																						uc001gow.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3580-3582)ACG>ACA		calcium channel, voltage-dependent, R type,							269.0	277.0	275.0					1																	181707532		1929	4141	6070	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181707532G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3582G>A	1.37:g.181707532G>A						CACNA1E_uc009wxs.2_Silent_p.T1082T|CACNA1E_uc001gox.1_Silent_p.T420T|CACNA1E_uc009wxt.2_Silent_p.T420T	p.T1194T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			24	3747	+			1194			III.|Helical; Name=S2 of repeat III.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.3582G>A	CCDS55664.1																																																																																				PASS	0.473	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		105	376	105	376	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181767477	181767477	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:181767477G>C	ENST00000367573.2	+	48	6449	c.6449G>C	c.(6448-6450)aGc>aCc	p.S2150T	CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2101T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2131T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2039T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2107T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1714T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S2088T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2150					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S2107T(1)|p.S2150T(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTGACACCAGCACCCCAAGA	0.592																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6319-6321)AGC>ACC		calcium channel, voltage-dependent, R type,							117.0	128.0	124.0					1																	181767477		2032	4175	6207	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767477G>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6449G>C	1.37:g.181767477G>C	ENSP00000356545:p.Ser2150Thr					CACNA1E_uc009wxs.2_Missense_Mutation_p.S1995T|CACNA1E_uc009wxt.2_Missense_Mutation_p.S1376T	p.S2107T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			47	6485	+			2150			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6320G>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851885	0.91355	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99136	-5.32;-5.3;-4.63;-5.29;-5.47;-4.63;-4.63	5.59	5.59	0.84812	.	0.201461	0.51477	D	0.000091	D	0.98664	0.9552	M	0.67700	2.07	0.58432	D	0.999998	D;P	0.62365	0.991;0.939	P;P	0.50405	0.64;0.584	D	0.99811	1.1041	10	0.66056	D	0.02	.	19.2073	0.93736	0.0:0.0:1.0:0.0	.	2088;2107	Q15878-2;Q15878-3	.;.	T	2107;2088;2101;2039;1714;2131;2150	ENSP00000356542:S2107T;ENSP00000434814:S2088T;ENSP00000350183:S2101T;ENSP00000351101:S2039T;ENSP00000356539:S1714T;ENSP00000353222:S2131T;ENSP00000356545:S2150T	ENSP00000350183:S2101T	S	+	2	0	CACNA1E	180034100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.041000	0.93788	2.622000	0.88805	0.563000	0.77884	AGC		PASS	0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		51	147	51	147	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186315403	186315403	+	Missense_Mutation	SNP	C	C	T	rs371802543		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:186315403C>T	ENST00000367478.4	-	23	3256	c.2960G>A	c.(2959-2961)cGt>cAt	p.R987H		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	987					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.R988H(1)|p.R987H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AATATTCTTACGCACTTCTTC	0.308			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(2959-2961)CGT>CAT		nuclear pore complex-associated protein TPR							128.0	110.0	115.0					1																	186315403		1838	4091	5929	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186315403C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2960G>A	1.37:g.186315403C>T	ENSP00000356448:p.Arg987His						p.R987H	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	23	3257	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	987			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.2960G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467748	0.26335	.	.	ENSG00000047410	ENST00000367478	T	0.26810	1.71	5.75	-1.69	0.08186	Prefoldin (1);	0.219510	0.47455	N	0.000231	T	0.15349	0.0370	L	0.29908	0.895	0.34343	D	0.68896	B	0.26041	0.14	B	0.16289	0.015	T	0.05566	-1.0877	10	0.52906	T	0.07	.	10.6418	0.45596	0.0:0.5383:0.0:0.4617	.	987	P12270	TPR_HUMAN	H	987	ENSP00000356448:R987H	ENSP00000356448:R987H	R	-	2	0	TPR	184582026	0.795000	0.28851	0.632000	0.29296	0.380000	0.30137	0.164000	0.16542	-0.653000	0.05401	-0.781000	0.03364	CGT		PASS	0.308	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		15	114	15	114	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186957614	186957614	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:186957614G>C	ENST00000367466.3	+	18	2376	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E682Q	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	742					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.E742Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TTTCAACAAGGAGTTTCTAAG	0.388																																						uc001gsc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(2224-2226)GAG>CAG		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						118.0	118.0	118.0					1																	186957614		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186957614G>C	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.2224G>C	1.37:g.186957614G>C	ENSP00000356436:p.Glu742Gln					PLA2G4A_uc010pos.1_Missense_Mutation_p.E682Q	p.E742Q	NM_024420	NP_077734	P47712	PA24A_HUMAN			18	2429	+			742					B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.2224G>C	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992200	0.54041	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.01838	4.77;4.61	5.6	5.6	0.85130	.	0.235349	0.47455	D	0.000234	T	0.02012	0.0063	N	0.08118	0	0.29349	N	0.865496	B;B	0.28713	0.22;0.181	B;B	0.34180	0.177;0.134	T	0.41770	-0.9490	10	0.52906	T	0.07	-24.6692	12.6187	0.56592	0.0803:0.0:0.9197:0.0	.	682;742	E7EU42;P47712	.;PA24A_HUMAN	Q	742;682	ENSP00000356436:E742Q;ENSP00000406892:E682Q	ENSP00000356436:E742Q	E	+	1	0	PLA2G4A	185224237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.445000	0.60007	2.651000	0.90000	0.551000	0.68910	GAG		PASS	0.388	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		21	200	21	200	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196398707	196398707	+	Splice_Site	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:196398707C>G	ENST00000294725.9	-	9	1734	c.819G>C	c.(817-819)caG>caC	p.Q273H	KCNT2_ENST00000609185.1_Splice_Site_p.Q273H|KCNT2_ENST00000367431.4_Splice_Site_p.Q273H|KCNT2_ENST00000367433.5_Splice_Site_p.Q273H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	273					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.Q273H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTTGTTTACCTGTATGGGTA	0.378																																						uc001gtd.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(817-819)CAG>CAC		potassium channel, subfamily T, member 2							82.0	75.0	77.0					1																	196398707		2203	4300	6503	SO:0001630	splice_region_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196398707C>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.819+1G>C	1.37:g.196398707C>G						KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q273H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q273H|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.Q273H|KCNT2_uc009wyv.1_Missense_Mutation_p.Q248H	p.Q273H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			9	879	-			273			Helical; Name=Segment S6; (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.819G>C	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209852	0.79240	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.29397	1.57;1.57;1.57	5.57	5.57	0.84162	Ion transport 2 (1);	0.000000	0.53938	D	0.000056	T	0.50360	0.1611	M	0.81239	2.535	0.80722	D	1	P;P;P;P	0.47962	0.903;0.882;0.728;0.903	P;P;B;P	0.50136	0.632;0.498;0.333;0.632	T	0.51694	-0.8673	9	.	.	.	-12.1747	19.5508	0.95319	0.0:1.0:0.0:0.0	.	273;273;273;273	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	273;273;94;273	ENSP00000356403:Q273H;ENSP00000356401:Q273H;ENSP00000294725:Q273H	.	Q	-	3	2	KCNT2	194665330	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.813000	0.86123	2.617000	0.88574	0.655000	0.94253	CAG		PASS	0.378	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Missense_Mutation	15	109	15	109	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197030095	197030095	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:197030095C>T	ENST00000367412.1	-	4	605	c.562G>A	c.(562-564)Gga>Aga	p.G188R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	188	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.G188R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCTTTCCTCCAGCTGTGTAG	0.398																																						uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(562-564)GGA>AGA		coagulation factor XIII B subunit precursor							229.0	208.0	215.0					1																	197030095		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197030095C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.562G>A	1.37:g.197030095C>T	ENSP00000356382:p.Gly188Arg						p.G188R	NM_001994	NP_001985	P05160	F13B_HUMAN			4	606	-			188			Sushi 3.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.562G>A	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574374	0.28092	.	.	ENSG00000143278	ENST00000367412	T	0.72725	-0.68	6.03	3.13	0.36017	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.76779	0.4035	M	0.93763	3.455	0.09310	N	0.999992	B	0.23990	0.095	B	0.31245	0.126	T	0.71041	-0.4707	9	0.62326	D	0.03	.	5.43	0.16448	0.1492:0.6302:0.0:0.2206	.	188	P05160	F13B_HUMAN	R	188	ENSP00000356382:G188R	ENSP00000356382:G188R	G	-	1	0	F13B	195296718	0.000000	0.05858	0.025000	0.17156	0.018000	0.09664	0.402000	0.20965	0.410000	0.25675	0.557000	0.71058	GGA		PASS	0.398	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		35	109	35	109	---	---	---	---
IGFN1	91156	broad.mit.edu	37	1	201193963	201193963	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:201193963G>A	ENST00000335211.4	+	21	10577	c.10447G>A	c.(10447-10449)Ggg>Agg	p.G3483R	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1026						nucleus (GO:0005634)|Z disc (GO:0030018)		p.G3483R(1)|p.G643R(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GACCCTGCAGGGGAAGGAGGT	0.602																																						uc001gwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1927-1929)GGG>AGG		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							69.0	55.0	59.0					1																	201193963		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201193963G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10447G>A	1.37:g.201193963G>A	ENSP00000334714:p.Gly3483Arg					IGFN1_uc001gwb.2_RNA	p.G643R	NM_178275	NP_840059					10	2699	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.1927G>A	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.531893|3.531893	0.64972|0.64972	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211	.|T	.|0.81415	.|-1.49	4.11|4.11	3.16|3.16	0.36331|0.36331	.|.	0.071084|0.071084	0.56097|0.56097	D|D	0.000031|0.000031	D|D	0.90222|0.90222	0.6943|0.6943	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	.|D	.|0.58970	.|0.984	.|D	.|0.68943	.|0.961	D|D	0.91439|0.91439	0.5172|0.5172	6|10	.|0.87932	.|D	.|0	.|.	10.4753|10.4753	0.44661|0.44661	0.0948:0.0:0.9052:0.0|0.0948:0.0:0.9052:0.0	.|.	.|3483	.|F8WAI1	.|.	E|R	900|3483	.|ENSP00000334714:G3483R	.|ENSP00000334714:G3483R	G|G	+|+	2|1	0|0	IGFN1|IGFN1	199460586|199460586	1.000000|1.000000	0.71417|0.71417	0.145000|0.145000	0.22337|0.22337	0.874000|0.874000	0.50279|0.50279	7.171000|7.171000	0.77595|0.77595	2.102000|2.102000	0.63906|0.63906	0.491000|0.491000	0.48974|0.48974	GGG|GGG		PASS	0.602	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		8	53	8	53	---	---	---	---
ADORA1	134	broad.mit.edu	37	1	203098306	203098306	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:203098306C>T	ENST00000367236.4	+	2	1258	c.337C>T	c.(337-339)Ctc>Ttc	p.L113F	ADORA1_ENST00000367235.1_Missense_Mutation_p.L113F|ADORA1_ENST00000309502.3_Missense_Mutation_p.L113F|ADORA1_ENST00000337894.4_Missense_Mutation_p.L113F|RP11-335O13.7_ENST00000421055.1_RNA	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	113					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.L113F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CAAGATCCCTCTCCGGTGAGT	0.582																																						uc001gze.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(337-339)CTC>TTC		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						77.0	77.0	77.0					1																	203098306		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203098306C>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.337C>T	1.37:g.203098306C>T	ENSP00000356205:p.Leu113Phe					ADORA1_uc001gzf.1_Missense_Mutation_p.L113F|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_5'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.L146F	p.L113F	NM_000674	NP_000665	P30542	AA1R_HUMAN			3	770	+			113			Cytoplasmic (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.337C>T	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347256	0.41599	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894;ENST00000367235	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.268251	0.39210	N	0.001431	T	0.38506	0.1043	L	0.60957	1.885	0.28164	N	0.928869	P;B	0.46987	0.888;0.108	B;B	0.40534	0.332;0.031	T	0.33803	-0.9854	10	0.10377	T	0.69	-36.7415	8.8819	0.35380	0.2571:0.5946:0.1483:0.0	.	146;113	B7Z379;P30542	.;AA1R_HUMAN	F	113	ENSP00000308549:L113F;ENSP00000356205:L113F;ENSP00000338435:L113F;ENSP00000356204:L113F	ENSP00000308549:L113F	L	+	1	0	ADORA1	201364929	0.987000	0.35691	0.939000	0.37840	0.958000	0.62258	2.735000	0.47377	2.466000	0.83321	0.655000	0.94253	CTC		PASS	0.582	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		10	155	10	155	---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215777494	215777494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:215777494G>T	ENST00000259154.4	+	13	1453	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	387					protein homooligomerization (GO:0051260)			p.E387*(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TAACTGGATCGAGATCGCCTA	0.443																																						uc001hks.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1159-1161)GAG>TAG		potassium channel tetramerisation domain							121.0	115.0	117.0					1																	215777494		2203	4300	6503	SO:0001587	stop_gained	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215777494G>T	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1159G>T	1.37:g.215777494G>T	ENSP00000259154:p.Glu387*					KCTD3_uc001hkt.2_Nonsense_Mutation_p.E387*|KCTD3_uc010pub.1_Nonsense_Mutation_p.E285*|KCTD3_uc009xdn.2_Nonsense_Mutation_p.E139*	p.E387*	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	13	1453	+			387					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	ENST00000259154.4	37	c.1159G>T	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.776512|9.776512	0.99261|0.99261	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000259154;ENST00000366946|ENST00000452413	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80116	.|0.4564	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77003	.|-0.2749	.|3	0.87932|.	D|.	0|.	-33.0586|-33.0586	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	387;39|18	.|.	ENSP00000259154:E387X|.	E|R	+|+	1|2	0|0	KCTD3|KCTD3	213844117|213844117	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.989000|0.989000	0.77384|0.77384	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|CGA		PASS	0.443	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		29	161	29	161	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215972274	215972274	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:215972274T>A	ENST00000307340.3	-	50	10319	c.9933A>T	c.(9931-9933)gaA>gaT	p.E3311D	USH2A_ENST00000366943.2_Missense_Mutation_p.E3311D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3311					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.E3311D(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)		ACACCACTCCTTCTTCTCCAC	0.502										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.(9931-9933)GAA>GAT		usherin isoform B							176.0	150.0	159.0					1																	215972274		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.chr1:215972274T>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.9933A>T	1.37:g.215972274T>A	ENSP00000305941:p.Glu3311Asp	HNSCC(13;0.011)					p.E3311D	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	50	10320	-			3311			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9933A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154886	0.38021	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.14516	2.51;2.5	5.81	-6.46	0.01908	Fibronectin, type III (2);	0.152498	0.30076	N	0.010479	T	0.08582	0.0213	L	0.43923	1.385	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.14392	-1.0474	10	0.29301	T	0.29	.	8.8281	0.35067	0.0:0.4064:0.1869:0.4067	.	3311	O75445	USH2A_HUMAN	D	3311	ENSP00000305941:E3311D;ENSP00000355910:E3311D	ENSP00000305941:E3311D	E	-	3	2	USH2A	214038897	0.000000	0.05858	0.005000	0.12908	0.905000	0.53344	-0.951000	0.03885	-1.657000	0.01492	0.533000	0.62120	GAA		PASS	0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		71	175	71	175	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226924302	226924302	+	Silent	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:226924302C>G	ENST00000272117.3	-	1	857	c.858G>C	c.(856-858)cgG>cgC	p.R286R	ITPKB_ENST00000429204.1_Silent_p.R286R|ITPKB_ENST00000366784.1_Silent_p.R286R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	286					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.R286R(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTAGGCAGCTCCGAGTTCCCG	0.582																																					Colon(84;110 1851 5306 33547)	uc010pvo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(856-858)CGG>CGC		1D-myo-inositol-trisphosphate 3-kinase B							45.0	51.0	49.0					1																	226924302		2203	4300	6503	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924302C>G	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.858G>C	1.37:g.226924302C>G						ITPKB_uc001hqh.2_Silent_p.R286R	p.R286R	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	1198	-		Prostate(94;0.0773)	286					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.858G>C	CCDS1555.1																																																																																				PASS	0.582	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		38	98	38	98	---	---	---	---
RAB4A	5867	broad.mit.edu	37	1	229438704	229438704	+	Missense_Mutation	SNP	G	G	T	rs202214923		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:229438704G>T	ENST00000366690.4	+	7	845	c.637G>T	c.(637-639)Gct>Tct	p.A213S	RAB4A_ENST00000473894.1_3'UTR|SPHAR_ENST00000366688.3_5'Flank	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	213					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)	p.A213S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				GGCCCCGAACGCTCAGGAGTG	0.577																																					Esophageal Squamous(11;250 603 9619 16563)	uc001hth.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)GCT>TCT		RAB4A, member RAS oncogene family							81.0	83.0	82.0					1																	229438704		2203	4300	6503	SO:0001583	missense	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229438704G>T	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.637G>T	1.37:g.229438704G>T	ENSP00000355651:p.Ala213Ser					RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_RNA|SPHAR_uc001htk.3_5'Flank	p.A213S	NM_004578	NP_004569	P20338	RAB4A_HUMAN			7	845	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	208					Q5T7P7|Q9BQ44	Missense_Mutation	SNP	ENST00000366690.4	37	c.637G>T	CCDS31050.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464383	0.26335	.	.	ENSG00000168118	ENST00000366690	T	0.62639	0.01	5.74	5.74	0.90152	.	0.213704	0.49916	D	0.000131	T	0.42787	0.1218	N	0.08118	0	0.36233	D	0.852763	B	0.14438	0.01	B	0.17433	0.018	T	0.44360	-0.9333	10	0.10377	T	0.69	.	18.095	0.89487	0.0:0.0:1.0:0.0	.	208	P20338	RAB4A_HUMAN	S	213	ENSP00000355651:A213S	ENSP00000355651:A213S	A	+	1	0	RAB4A	227505327	0.701000	0.27806	0.061000	0.19648	0.227000	0.25037	4.127000	0.57944	2.709000	0.92574	0.655000	0.94253	GCT		PASS	0.577	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		57	140	57	140	---	---	---	---
AGT	183	broad.mit.edu	37	1	230838938	230838938	+	Silent	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:230838938G>T	ENST00000366667.4	-	5	1621	c.1407C>A	c.(1405-1407)gcC>gcA	p.A469A		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	469					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)	p.A469A(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCAGGGCAGTGGCGCTTTGAT	0.612																																						uc001hty.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1405-1407)GCC>GCA		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						130.0	115.0	120.0					1																	230838938		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230838938G>T	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1407C>A	1.37:g.230838938G>T						AGT_uc009xfe.2_3'UTR|AGT_uc009xff.2_Silent_p.A441A	p.A469A	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	5	1915	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	469					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.1407C>A	CCDS1585.1																																																																																				PASS	0.612	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		21	131	21	131	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232600907	232600907	+	Silent	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:232600907C>A	ENST00000366630.1	-	8	2857	c.2499G>T	c.(2497-2499)ctG>ctT	p.L833L	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Silent_p.L833L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	833					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.L833L(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCTTCGCACCCAGCGTAATGA	0.532																																						uc001hvg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2497-2499)CTG>CTT		signal-induced proliferation-associated 1 like							131.0	127.0	128.0					1																	232600907		1990	4162	6152	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600907C>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2499G>T	1.37:g.232600907C>A						SIPA1L2_uc001hvf.2_5'Flank	p.L833L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			7	2657	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	833					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.2499G>T	CCDS41474.1																																																																																				PASS	0.532	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		70	193	70	193	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237870440	237870440	+	Missense_Mutation	SNP	C	C	A	rs368028300		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:237870440C>A	ENST00000366574.2	+	68	10089	c.9772C>A	c.(9772-9774)Cca>Aca	p.P3258T	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.P3242T|RYR2_ENST00000360064.6_Missense_Mutation_p.P3256T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3258					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.P3256T(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)			TGAGAACAATCCAGAACGGGC	0.473																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(9772-9774)CCA>ACA		cardiac muscle ryanodine receptor							74.0	74.0	74.0					1																	237870440		2061	4197	6258	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.chr1:237870440C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9772C>A	1.37:g.237870440C>A	ENSP00000355533:p.Pro3258Thr					RYR2_uc010pxz.1_Missense_Mutation_p.P213T	p.P3258T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9892	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3258					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9772C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384742	0.42308	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.87256	-0.48;-2.23;-0.48	5.72	5.72	0.89469	.	0.173886	0.36519	N	0.002549	D	0.87261	0.6133	L	0.54323	1.7	0.80722	D	1	B	0.27498	0.18	B	0.34991	0.193	T	0.83125	-0.0116	10	0.33940	T	0.23	-2.5315	19.8946	0.96949	0.0:1.0:0.0:0.0	.	3258	Q92736	RYR2_HUMAN	T	3258;3256;3242;213	ENSP00000355533:P3258T;ENSP00000353174:P3256T;ENSP00000443798:P3242T	ENSP00000353174:P3256T	P	+	1	0	RYR2	235937063	0.323000	0.24643	0.080000	0.20451	0.376000	0.30014	2.535000	0.45685	2.711000	0.92665	0.655000	0.94253	CCA		PASS	0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	94	14	94	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237897051	237897051	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:237897051G>A	ENST00000366574.2	+	79	11403	c.11086G>A	c.(11086-11088)Gca>Aca	p.A3696T	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.A3680T|RYR2_ENST00000360064.6_Missense_Mutation_p.A3694T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3696					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.A3694T(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)			AGATATTATGGCAAAGGTAAA	0.333																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11086-11088)GCA>ACA		cardiac muscle ryanodine receptor							106.0	96.0	99.0					1																	237897051		1823	4080	5903	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.chr1:237897051G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11086G>A	1.37:g.237897051G>A	ENSP00000355533:p.Ala3696Thr					RYR2_uc010pya.1_Missense_Mutation_p.A92T	p.A3696T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		79	11206	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3696					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11086G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944619	0.92593	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97352	-4.33;-4.35;-4.32	5.79	5.79	0.91817	.	0.099741	0.41097	U	0.000956	D	0.98289	0.9433	M	0.87180	2.865	0.80722	D	1	P;D	0.58268	0.892;0.982	P;P	0.56434	0.459;0.798	D	0.99016	1.0816	10	0.87932	D	0	-14.1358	18.8212	0.92097	0.0:0.0:1.0:0.0	.	651;3696	B4DGV4;Q92736	.;RYR2_HUMAN	T	3696;3694;3680;651	ENSP00000355533:A3696T;ENSP00000353174:A3694T;ENSP00000443798:A3680T	ENSP00000353174:A3694T	A	+	1	0	RYR2	235963674	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.392000	0.79840	2.753000	0.94483	0.557000	0.71058	GCA		PASS	0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		24	76	24	76	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947095	237947095	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:237947095C>G	ENST00000366574.2	+	90	12400	c.12083C>G	c.(12082-12084)tCg>tGg	p.S4028W	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.S4012W|RYR2_ENST00000360064.6_Missense_Mutation_p.S4034W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4028					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.S4026W(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)			GATTTGACGTCGTCTGATACT	0.418																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12082-12084)TCG>TGG		cardiac muscle ryanodine receptor							55.0	52.0	53.0					1																	237947095		1857	4102	5959	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.chr1:237947095C>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.12083C>G	1.37:g.237947095C>G	ENSP00000355533:p.Ser4028Trp					RYR2_uc010pya.1_Missense_Mutation_p.S443W	p.S4028W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12203	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4028			EF-hand.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12083C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641155	0.47153	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.82344	-1.6;-1.6;-1.6	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000006	D	0.88858	0.6551	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.985	D	0.89006	0.3425	10	0.87932	D	0	.	14.7514	0.69528	0.0:0.9316:0.0:0.0684	.	1002;4028	B4DGV4;Q92736	.;RYR2_HUMAN	W	4028;4034;4012;1002	ENSP00000355533:S4028W;ENSP00000353174:S4034W;ENSP00000443798:S4012W	ENSP00000353174:S4034W	S	+	2	0	RYR2	236013718	1.000000	0.71417	0.459000	0.27081	0.186000	0.23388	6.044000	0.71012	2.884000	0.98904	0.655000	0.94253	TCG		PASS	0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	48	16	48	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247654673	247654673	+	RNA	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr1:247654673C>A	ENST00000522351.1	+	0	304							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.L82M(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)			CCCTCAGCTGCTGTGGAACCT	0.542																																						uc001icz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(244-246)CTG>ATG		olfactory receptor, family 2, subfamily W,							88.0	88.0	88.0					1																	247654673		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654673C>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		1.37:g.247654673C>A							p.L82M	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	244	+	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)	82					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.244C>A																																																																																					PASS	0.542	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		18	136	18	136	---	---	---	---
CAD	790	broad.mit.edu	37	2	27447308	27447308	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:27447308G>T	ENST00000403525.1	+	9	1348	c.1204G>T	c.(1204-1206)Ggg>Tgg	p.G402W	CAD_ENST00000264705.4_Missense_Mutation_p.G402W			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.G402W(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGGCTCAGGGGGCCTCTC	0.602																																						uc002rji.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(1204-1206)GGG>TGG		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						67.0	72.0	70.0					2																	27447308		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27447308G>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1204G>T	2.37:g.27447308G>T	ENSP00000384510:p.Gly402Trp					CAD_uc010eyw.2_Missense_Mutation_p.G402W	p.G402W	NM_004341	NP_004332	P27708	PYR1_HUMAN			9	1366	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		402			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1204G>T		.	.	.	.	.	.	.	.	.	.	G	15.58	2.875802	0.51695	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.99656	-6.31;-6.31	5.19	4.32	0.51571	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.046813	0.85682	D	0.000000	D	0.99782	0.9909	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97165	0.9840	10	0.87932	D	0	0.0873	12.3814	0.55309	0.0828:0.0:0.9172:0.0	.	402;402	F8VPD4;P27708	.;PYR1_HUMAN	W	402	ENSP00000264705:G402W;ENSP00000384510:G402W	ENSP00000264705:G402W	G	+	1	0	CAD	27300812	1.000000	0.71417	0.968000	0.41197	0.108000	0.19459	9.331000	0.96430	1.194000	0.43101	-0.339000	0.08088	GGG		PASS	0.602	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			54	177	54	177	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	32865348	32865348	+	Silent	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:32865348G>T	ENST00000317907.4	+	4	639	c.408G>T	c.(406-408)ctG>ctT	p.L136L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	136								p.L136L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTAAAGGACTGGATGCATTTG	0.333																																						uc002rom.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(406-408)CTG>CTT		tetratricopeptide repeat domain 27							110.0	101.0	104.0					2																	32865348		2203	4300	6503	SO:0001819	synonymous_variant	55622						protein binding	g.chr2:32865348G>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.408G>T	2.37:g.32865348G>T						TTC27_uc010ymx.1_Silent_p.L86L	p.L136L	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			4	639	+			136					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	c.408G>T	CCDS33176.1																																																																																				PASS	0.333	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		21	83	21	83	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54856314	54856314	+	Silent	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:54856314G>T	ENST00000356805.4	+	14	2324	c.2043G>T	c.(2041-2043)cgG>cgT	p.R681R	SPTBN1_ENST00000333896.5_Silent_p.R668R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	681					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.R681R(1)|p.R668R(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCAAGCACCGGGCGTTCGAGG	0.597																																						uc002rxu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(2041-2043)CGG>CGT		spectrin, beta, non-erythrocytic 1 isoform 1							42.0	38.0	39.0					2																	54856314		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856314G>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2043G>T	2.37:g.54856314G>T						SPTBN1_uc002rxv.1_Silent_p.R681R|SPTBN1_uc002rxx.2_Silent_p.R668R	p.R681R	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	2292	+			681			Spectrin 4.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.2043G>T	CCDS33198.1																																																																																				PASS	0.597	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			19	66	19	66	---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55899142	55899142	+	Silent	SNP	G	G	A	rs149239772	byFrequency	TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:55899142G>A	ENST00000447944.2	-	10	992	c.906C>T	c.(904-906)taC>taT	p.Y302Y		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	302					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.Y302Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGTCATGCTCGTAATCTGTAA	0.328													G|||	13	0.00259585	0.0091	0.0014	5008	,	,		16119	0.0		0.0	False		,,,				2504	0.0					uc002rzf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(904-906)TAC>TAT		polyribonucleotide nucleotidyltransferase 1		G		52,4354	52.3+/-87.9	1,50,2152	105.0	113.0	110.0		906	2.8	1.0	2	dbSNP_134	110	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	PNPT1	NM_033109.3		1,52,6449	AA,AG,GG		0.0233,1.1802,0.4153		302/784	55899142	54,12950	2203	4299	6502	SO:0001819	synonymous_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55899142G>A	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.906C>T	2.37:g.55899142G>A						PNPT1_uc002rzg.2_RNA	p.Y302Y	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		10	959	-			302					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	ENST00000447944.2	37	c.906C>T	CCDS1856.1																																																																																				PASS	0.328	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		66	243	66	243	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63631360	63631360	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:63631360G>C	ENST00000272321.7	-	10	1785	c.1258C>G	c.(1258-1260)Cgc>Ggc	p.R420G	WDPCP_ENST00000409199.1_Missense_Mutation_p.R228G|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_Missense_Mutation_p.R228G|WDPCP_ENST00000409562.3_Missense_Mutation_p.R420G|WDPCP_ENST00000398544.3_Missense_Mutation_p.R261G	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	420					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R420G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTGGGTAAGCGGTCTTCAGCC	0.463																																						uc002sch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1258-1260)CGC>GGC		hypothetical protein LOC51057 isoform 2							94.0	92.0	93.0					2																	63631360		1913	4128	6041	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631360G>C		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1258C>G	2.37:g.63631360G>C	ENSP00000272321:p.Arg420Gly					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.R261G|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.R228G|C2orf86_uc002sci.1_Missense_Mutation_p.R396G|C2orf86_uc010fcr.1_Missense_Mutation_p.R310G	p.R420G	NM_015910	NP_056994	O95876	FRITZ_HUMAN			10	1704	-			420					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1258C>G	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	8.463	0.855754	0.17106	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.52	-2.65	0.06095	.	1.118670	0.06471	N	0.731187	T	0.23370	0.0565	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.29232	0.222;0.022;0.238;0.152	B;B;B;B	0.31946	0.093;0.026;0.138;0.041	T	0.26883	-1.0090	10	0.26408	T	0.33	12.007	5.7543	0.18164	0.5829:0.0:0.1643:0.2528	.	228;420;420;261	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	G	420;228;228;261;420	ENSP00000272321:R420G;ENSP00000386592:R228G;ENSP00000386769:R228G;ENSP00000381552:R261G;ENSP00000387222:R420G	ENSP00000272321:R420G	R	-	1	0	WDPCP	63484864	0.024000	0.19004	0.270000	0.24601	0.975000	0.68041	0.001000	0.13038	-0.348000	0.08286	-0.194000	0.12790	CGC		PASS	0.463	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		9	214	9	214	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80773066	80773066	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:80773066C>G	ENST00000402739.4	+	10	1423	c.1418C>G	c.(1417-1419)cCa>cGa	p.P473R	CTNNA2_ENST00000496558.1_Missense_Mutation_p.P473R|CTNNA2_ENST00000466387.1_Missense_Mutation_p.P473R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P473R|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P507R|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P473R|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P152R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	473					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.P473R(1)		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						GCTGCCCGGCCACAGAGCAAA	0.512																																						uc010ysh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1417-1419)CCA>CGA		catenin, alpha 2 isoform 1							53.0	59.0	57.0					2																	80773066		2066	4221	6287	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.chr2:80773066C>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.1418C>G	2.37:g.80773066C>G	ENSP00000384638:p.Pro473Arg					CTNNA2_uc010yse.1_Missense_Mutation_p.P473R|CTNNA2_uc010ysf.1_Missense_Mutation_p.P473R|CTNNA2_uc010ysg.1_Missense_Mutation_p.P473R|CTNNA2_uc010ysi.1_Missense_Mutation_p.P105R	p.P473R	NM_004389	NP_004380	P26232	CTNA2_HUMAN			10	1423	+			473					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1418C>G		.	.	.	.	.	.	.	.	.	.	C	33	5.200298	0.94997	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.91612	3.225	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.98;0.997;0.997;0.997	D	0.90710	0.4627	9	.	.	.	.	20.2664	0.98460	0.0:1.0:0.0:0.0	.	105;473;473;473	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	R	473;473;507;473;473;473;152;138	ENSP00000418191:P473R;ENSP00000419295:P473R;ENSP00000355398:P507R;ENSP00000384638:P473R;ENSP00000444675:P473R;ENSP00000441705:P473R;ENSP00000341500:P152R;ENSP00000386587:P138R	.	P	+	2	0	CTNNA2	80626577	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	2.088000	0.41663	2.786000	0.95864	0.561000	0.74099	CCA		PASS	0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		10	46	10	46	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98373570	98373570	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:98373570C>T	ENST00000186436.5	-	41	5872	c.5644G>A	c.(5644-5646)Gag>Aag	p.E1882K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1882						integral component of membrane (GO:0016021)		p.E1882K(1)|p.E1769K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ATTTAATTCTCGTGAGGAAAG	0.468																																						uc002syh.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(5644-5646)GAG>AAG		RW1 protein							44.0	43.0	43.0					2																	98373570		1895	4117	6012	SO:0001583	missense	23505					integral to membrane		g.chr2:98373570C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5644G>A	2.37:g.98373570C>T	ENSP00000186436:p.Glu1882Lys					TMEM131_uc002syg.2_Missense_Mutation_p.E262K	p.E1882K	NM_015348	NP_056163	Q92545	TM131_HUMAN			41	5873	-			1882						Missense_Mutation	SNP	ENST00000186436.5	37	c.5644G>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605158	0.66445	.	.	ENSG00000075568	ENST00000186436	T	0.37058	1.22	5.62	5.62	0.85841	.	0.124327	0.53938	D	0.000049	T	0.42223	0.1193	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.968;0.998	B;P	0.54312	0.248;0.748	T	0.33007	-0.9885	10	0.72032	D	0.01	-19.318	19.8538	0.96750	0.0:1.0:0.0:0.0	.	1882;262	Q92545;Q0P631	TM131_HUMAN;.	K	1882	ENSP00000186436:E1882K	ENSP00000186436:E1882K	E	-	1	0	TMEM131	97740002	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.834000	0.69361	2.927000	0.99377	0.637000	0.83480	GAG		PASS	0.468	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		17	53	17	53	---	---	---	---
MGAT4A	11320	broad.mit.edu	37	2	99294817	99294817	+	Missense_Mutation	SNP	C	C	A	rs202058781		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:99294817C>A	ENST00000264968.3	-	2	575	c.212G>T	c.(211-213)cGt>cTt	p.R71L	MGAT4A_ENST00000393487.1_Missense_Mutation_p.R71L|MGAT4A_ENST00000409391.1_Missense_Mutation_p.R71L			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	71					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R71L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TGCTCCTACACGCTTGAACTG	0.328																																						uc002sze.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(211-213)CGT>CTT		alpha-1,3-mannosyl-glycoprotein							117.0	113.0	114.0					2																	99294817		2203	4300	6503	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99294817C>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.212G>T	2.37:g.99294817C>A	ENSP00000264968:p.Arg71Leu					MGAT4A_uc010fil.2_5'UTR	p.R71L	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN			3	526	-			71			Lumenal (Potential).		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.212G>T	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537519	0.85917	.	.	ENSG00000071073	ENST00000393487;ENST00000264968;ENST00000409391	T;T;T	0.24723	1.84;1.84;1.84	5.59	4.68	0.58851	.	0.104034	0.64402	D	0.000007	T	0.48572	0.1507	M	0.70275	2.135	0.43959	D	0.996638	D	0.69078	0.997	D	0.76071	0.987	T	0.50294	-0.8845	10	0.66056	D	0.02	.	12.1423	0.54005	0.0:0.9127:0.0:0.0873	.	71	Q9UM21	MGT4A_HUMAN	L	71	ENSP00000377127:R71L;ENSP00000264968:R71L;ENSP00000386841:R71L	ENSP00000264968:R71L	R	-	2	0	MGAT4A	98661249	0.815000	0.29118	0.369000	0.25952	0.963000	0.63663	3.594000	0.54008	1.271000	0.44313	0.555000	0.69702	CGT		PASS	0.328	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		42	193	42	193	---	---	---	---
TSGA10	80705	broad.mit.edu	37	2	99635067	99635067	+	Silent	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:99635067A>G	ENST00000393483.3	-	19	2698	c.1854T>C	c.(1852-1854)aaT>aaC	p.N618N	TSGA10_ENST00000539964.1_Silent_p.N618N|TSGA10_ENST00000410001.1_Silent_p.N618N|TSGA10_ENST00000355053.4_Silent_p.N618N	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	618	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.N618N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GTGTGACAACATTTCTGAACT	0.373																																						uc002szg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1852-1854)AAT>AAC		testis specific, 10							122.0	107.0	112.0					2																	99635067		2203	4300	6503	SO:0001819	synonymous_variant	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99635067A>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1854T>C	2.37:g.99635067A>G						TSGA10_uc002szh.3_Silent_p.N618N|TSGA10_uc002szi.3_Silent_p.N618N|TSGA10_uc010fin.1_Silent_p.N618N	p.N618N	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			17	2482	-			618			Interaction with HIF1A (By similarity).		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Silent	SNP	ENST00000393483.3	37	c.1854T>C	CCDS2037.1																																																																																				PASS	0.373	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		23	81	23	81	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109103087	109103087	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:109103087G>C	ENST00000309863.6	+	16	4627	c.3913G>C	c.(3913-3915)Gag>Cag	p.E1305Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1305					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.E1305Q(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTACAGGAAGAGTGCCGTGC	0.527																																						uc002tec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3913-3915)GAG>CAG		GRIP and coiled-coil domain-containing 2							82.0	72.0	75.0					2																	109103087		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109103087G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3913G>C	2.37:g.109103087G>C	ENSP00000307939:p.Glu1305Gln					GCC2_uc002ted.2_Missense_Mutation_p.E1204Q	p.E1305Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			16	4067	+			1305			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3913G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023809	0.54683	.	.	ENSG00000135968	ENST00000309863	T	0.35973	1.28	5.66	5.66	0.87406	.	0.053665	0.64402	D	0.000001	T	0.60971	0.2310	M	0.69823	2.125	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.55023	-0.8205	10	0.32370	T	0.25	.	19.7375	0.96212	0.0:0.0:1.0:0.0	.	1305	Q8IWJ2	GCC2_HUMAN	Q	1305	ENSP00000307939:E1305Q	ENSP00000307939:E1305Q	E	+	1	0	GCC2	108469519	1.000000	0.71417	0.510000	0.27712	0.006000	0.05464	5.724000	0.68500	2.673000	0.90976	0.655000	0.94253	GAG		PASS	0.527	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		18	73	18	73	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109379867	109379867	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:109379867G>C	ENST00000283195.6	+	20	2998	c.2872G>C	c.(2872-2874)Ggt>Cgt	p.G958R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	958					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G958R(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATCGCCCAGGGGTGATGATTA	0.458																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(2872-2874)GGT>CGT		RAN binding protein 2							110.0	106.0	108.0					2																	109379867		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109379867G>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2872G>C	2.37:g.109379867G>C	ENSP00000283195:p.Gly958Arg						p.G958R	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	2998	+			958					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2872G>C	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488822	0.44249	.	.	ENSG00000153201	ENST00000283195	T	0.23754	1.89	5.19	2.45	0.29901	.	.	.	.	.	T	0.18425	0.0442	L	0.27053	0.805	0.25950	N	0.982762	B	0.27380	0.177	B	0.29267	0.1	T	0.20907	-1.0261	9	0.52906	T	0.07	-16.1251	8.4519	0.32875	0.3689:0.0:0.6311:0.0	.	958	P49792	RBP2_HUMAN	R	958	ENSP00000283195:G958R	ENSP00000283195:G958R	G	+	1	0	RANBP2	108746299	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.365000	0.34182	0.299000	0.22661	-0.244000	0.11960	GGT		PASS	0.458	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		37	144	37	144	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380026	109380026	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:109380026C>T	ENST00000283195.6	+	20	3157	c.3031C>T	c.(3031-3033)Ccg>Tcg	p.P1011S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1011					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P1011S(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAGCCCATGCCGGGTGAAGG	0.393																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(3031-3033)CCG>TCG		RAN binding protein 2							102.0	102.0	102.0					2																	109380026		2203	4299	6502	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380026C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3031C>T	2.37:g.109380026C>T	ENSP00000283195:p.Pro1011Ser						p.P1011S	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	3157	+			1011					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.3031C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727321	0.30593	.	.	ENSG00000153201	ENST00000283195	T	0.28069	1.63	5.39	3.58	0.41010	.	.	.	.	.	T	0.19846	0.0477	L	0.29908	0.895	0.22412	N	0.999129	B	0.13594	0.008	B	0.09377	0.004	T	0.21177	-1.0253	9	0.49607	T	0.09	-3.257	3.4526	0.07503	0.1491:0.5753:0.1278:0.1478	.	1011	P49792	RBP2_HUMAN	S	1011	ENSP00000283195:P1011S	ENSP00000283195:P1011S	P	+	1	0	RANBP2	108746458	0.001000	0.12720	0.022000	0.16811	0.636000	0.38137	0.058000	0.14301	0.736000	0.32559	0.563000	0.77884	CCG		PASS	0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		5	302	5	302	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113513644	113513644	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:113513644G>T	ENST00000302450.6	-	4	1382	c.1304C>A	c.(1303-1305)aCa>aAa	p.T435K	CKAP2L_ENST00000541405.1_Missense_Mutation_p.T270K|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	435						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T435K(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTGGGAGCTGTCTTGTTCAG	0.408																																						uc002tie.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1303-1305)ACA>AAA		cytoskeleton associated protein 2-like							225.0	227.0	226.0					2																	113513644		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113513644G>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1304C>A	2.37:g.113513644G>T	ENSP00000305204:p.Thr435Lys					CKAP2L_uc002tif.2_Missense_Mutation_p.T24K|CKAP2L_uc010yxp.1_Missense_Mutation_p.T270K|CKAP2L_uc010yxq.1_Missense_Mutation_p.T270K	p.T435K	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			4	1383	-			435					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.1304C>A	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112470	0.37242	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.20881	2.04;2.04	5.25	4.36	0.52297	.	0.199469	0.32769	N	0.005671	T	0.36220	0.0959	M	0.68317	2.08	0.32778	N	0.502891	P;D	0.63046	0.944;0.992	P;P	0.59487	0.646;0.858	T	0.45862	-0.9232	10	0.62326	D	0.03	-16.1526	9.0606	0.36431	0.0962:0.0:0.9038:0.0	.	24;435	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	K	270;435	ENSP00000438763:T270K;ENSP00000305204:T435K	ENSP00000305204:T435K	T	-	2	0	CKAP2L	113230115	0.913000	0.31002	1.000000	0.80357	0.881000	0.50899	2.610000	0.46325	2.890000	0.99128	0.585000	0.79938	ACA		PASS	0.408	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		134	466	134	466	---	---	---	---
PSD4	23550	broad.mit.edu	37	2	113940807	113940807	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:113940807G>A	ENST00000245796.6	+	2	969	c.774G>A	c.(772-774)gaG>gaA	p.E258E	PSD4_ENST00000441564.3_Silent_p.E258E	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	258					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.E258E(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGCTCAGAGAACAGTGCTT	0.607																																						uc002tjc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(772-774)GAG>GAA		pleckstrin and Sec7 domain containing 4							90.0	90.0	90.0					2																	113940807		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940807G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.774G>A	2.37:g.113940807G>A						PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Silent_p.E257E|PSD4_uc002tjf.2_5'Flank	p.E258E	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			2	957	+			258					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.774G>A	CCDS33276.1																																																																																				PASS	0.607	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		38	116	38	116	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125671848	125671848	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:125671848C>G	ENST00000431078.1	+	24	4268	c.3904C>G	c.(3904-3906)Cgg>Ggg	p.R1302G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1302					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R1302G(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)		CGAGTGTAAACGGGAATATTT	0.408																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(3904-3906)CGG>GGG		contactin associated protein-like 5 precursor							98.0	101.0	100.0					2																	125671848		1864	4105	5969	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125671848C>G	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.3904C>G	2.37:g.125671848C>G	ENSP00000399013:p.Arg1302Gly					CNTNAP5_uc010flu.2_Missense_Mutation_p.R1303G	p.R1302G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	24	4268	+			1302			Cytoplasmic (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3904C>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732604	0.48939	.	.	ENSG00000155052	ENST00000431078	D	0.88431	-2.38	6.14	4.26	0.50523	.	0.000000	0.45126	D	0.000396	D	0.87002	0.6069	M	0.72479	2.2	0.37292	D	0.908319	P	0.40515	0.719	B	0.35278	0.199	D	0.90190	0.4249	10	0.87932	D	0	.	13.6702	0.62420	0.4024:0.5976:0.0:0.0	.	1302	Q8WYK1	CNTP5_HUMAN	G	1302	ENSP00000399013:R1302G	ENSP00000399013:R1302G	R	+	1	2	CNTNAP5	125388318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.869000	0.27996	1.572000	0.49736	0.637000	0.83480	CGG		PASS	0.408	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			20	62	20	62	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152529183	152529183	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:152529183C>A	ENST00000172853.10	-	37	4146	c.3999G>T	c.(3997-3999)aaG>aaT	p.K1333N	NEB_ENST00000409198.1_Missense_Mutation_p.K1333N|NEB_ENST00000603639.1_Missense_Mutation_p.K1333N|NEB_ENST00000397345.3_Missense_Mutation_p.K1333N|NEB_ENST00000604864.1_Missense_Mutation_p.K1333N|NEB_ENST00000427231.2_Missense_Mutation_p.K1333N			P20929	NEBU_HUMAN	nebulin	1333					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.K1333N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATAAGCTTCCTTGTATTTAT	0.438																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(3997-3999)AAG>AAT		nebulin isoform 3							93.0	90.0	91.0					2																	152529183		1866	4099	5965	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152529183C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3999G>T	2.37:g.152529183C>A	ENSP00000172853:p.Lys1333Asn						p.K1333N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	37	4190	-			1333			Nebulin 33.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.3999G>T		.	.	.	.	.	.	.	.	.	.	C	18.73	3.687043	0.68157	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.71	-0.788	0.10939	.	0.049268	0.85682	D	0.000000	T	0.82047	0.4952	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82735	-0.0310	10	0.87932	D	0	.	10.794	0.46449	0.0:0.3725:0.0:0.6275	.	1333	P20929	NEBU_HUMAN	N	1333	ENSP00000386259:K1333N;ENSP00000380505:K1333N;ENSP00000416578:K1333N;ENSP00000172853:K1333N	ENSP00000172853:K1333N	K	-	3	2	NEB	152237429	0.885000	0.30320	0.997000	0.53966	0.999000	0.98932	0.003000	0.13083	-0.045000	0.13468	0.650000	0.86243	AAG		PASS	0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		44	124	44	124	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166188012	166188012	+	Silent	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:166188012C>A	ENST00000375437.2	+	14	2612	c.2322C>A	c.(2320-2322)ctC>ctA	p.L774L	SCN2A_ENST00000283256.6_Silent_p.L774L|SCN2A_ENST00000375427.2_Silent_p.L774L|SCN2A_ENST00000357398.3_Silent_p.L774L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	774					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L774L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAATACACTCTTCATGGCTA	0.453																																						uc002udc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(2320-2322)CTC>CTA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						160.0	135.0	143.0					2																	166188012		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166188012C>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2322C>A	2.37:g.166188012C>A						SCN2A_uc002udd.2_Silent_p.L774L|SCN2A_uc002ude.2_Silent_p.L774L	p.L774L	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			14	2612	+			774			II.|Helical; Name=S1 of repeat II; (Potential).		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.2322C>A	CCDS33314.1																																																																																				PASS	0.453	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		58	172	58	172	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179431000	179431000	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:179431000G>T	ENST00000591111.1	-	276	75160	c.74936C>A	c.(74935-74937)cCa>cAa	p.P24979Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17555Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17680Q|TTN_ENST00000589042.1_Missense_Mutation_p.P26620Q|TTN_ENST00000342175.6_Missense_Mutation_p.P17747Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24052Q|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24979	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P17680Q(1)|p.P17555Q(1)|p.P24050Q(1)|p.P17747Q(1)|p.P24052Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAGGCGTTGGACGACCTTT	0.418																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(72154-72156)CCA>CAA		titin isoform N2-A							162.0	157.0	158.0					2																	179431000		1927	4153	6080	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431000G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74936C>A	2.37:g.179431000G>T	ENSP00000465570:p.Pro24979Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P17747Q|TTN_uc010zfi.1_Missense_Mutation_p.P17680Q|TTN_uc010zfj.1_Missense_Mutation_p.P17555Q	p.P24052Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72379	-			24979					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72155C>A		.	.	.	.	.	.	.	.	.	.	G	14.47	2.543999	0.45280	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.91	5.91	0.95273	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92964	0.7761	H	0.99143	4.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95263	0.8370	9	0.87932	D	0	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	17555;17680;17747;24979	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	24052;17555;17747;17680;17553	ENSP00000343764:P24052Q;ENSP00000434586:P17555Q;ENSP00000340554:P17747Q;ENSP00000352154:P17680Q	ENSP00000340554:P17747Q	P	-	2	0	TTN	179139246	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.807000	0.99171	2.809000	0.96659	0.555000	0.69702	CCA		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	410	6	410	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179641088	179641088	+	Missense_Mutation	SNP	G	G	T	rs537070177		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:179641088G>T	ENST00000591111.1	-	28	5727	c.5503C>A	c.(5503-5505)Cag>Aag	p.Q1835K	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q1789K|TTN_ENST00000359218.5_Missense_Mutation_p.Q1789K|TTN_ENST00000589042.1_Missense_Mutation_p.Q1835K|TTN_ENST00000342175.6_Missense_Mutation_p.Q1789K|TTN_ENST00000360870.5_Missense_Mutation_p.Q1835K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q1835K|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12663					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q1789K(3)|p.Q1835K(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTTTCTGATCTGTTGTT	0.473																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(5503-5505)CAG>AAG		titin isoform N2-A							159.0	161.0	160.0					2																	179641088		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641088G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5503C>A	2.37:g.179641088G>T	ENSP00000465570:p.Gln1835Lys					TTN_uc010zfh.1_Missense_Mutation_p.Q1789K|TTN_uc010zfi.1_Missense_Mutation_p.Q1789K|TTN_uc010zfj.1_Missense_Mutation_p.Q1789K|TTN_uc002unb.2_Missense_Mutation_p.Q1835K|uc002unc.1_5'Flank	p.Q1835K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5727	-			1835					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5503C>A		.	.	.	.	.	.	.	.	.	.	g	8.260	0.811059	0.16537	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63096	-0.02;0.21;0.2;0.19;0.35	5.16	5.16	0.70880	Ribonuclease H-like (1);	.	.	.	.	T	0.50446	0.1616	N	0.14661	0.345	0.23120	N	0.998264	B;B;B;B;P	0.42248	0.146;0.146;0.146;0.255;0.774	B;B;B;B;B	0.42495	0.038;0.038;0.038;0.038;0.389	T	0.51148	-0.8742	9	0.87932	D	0	.	13.5996	0.62011	0.0:0.0:0.8448:0.1552	.	1789;1789;1789;1835;1835	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1835;1789;1789;1789;1789;1835	ENSP00000343764:Q1835K;ENSP00000434586:Q1789K;ENSP00000340554:Q1789K;ENSP00000352154:Q1789K;ENSP00000354117:Q1835K	ENSP00000340554:Q1789K	Q	-	1	0	TTN	179349333	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.221000	0.58574	2.417000	0.82017	0.651000	0.88453	CAG		PASS	0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		72	272	72	272	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202632082	202632082	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:202632082C>T	ENST00000264276.6	-	3	417	c.45G>A	c.(43-45)aaG>aaA	p.K15K	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Silent_p.K15K	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	15					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.K15K(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGCCTCTTTCCTTGGATCCTT	0.448																																						uc002uyo.2																			2	Substitution - coding silent(2)		lung(2)	skin(5)|lung(1)|breast(1)	7						c.(43-45)AAG>AAA		alsin isoform 1							84.0	81.0	82.0					2																	202632082		1890	4108	5998	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202632082C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.45G>A	2.37:g.202632082C>T						ALS2_uc002uyp.3_Silent_p.K15K|ALS2_uc002uyq.2_Silent_p.K15K|ALS2_uc002uyr.2_Silent_p.K15K	p.K15K	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			3	401	-			15					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.45G>A	CCDS42800.1																																																																																				PASS	0.448	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		36	61	36	61	---	---	---	---
CDK15	65061	broad.mit.edu	37	2	202672269	202672269	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:202672269G>T	ENST00000374598.4	+	2	176	c.176G>T	c.(175-177)gGa>gTa	p.G59V	CDK15_ENST00000450471.2_Missense_Mutation_p.G59V|CDK15_ENST00000434439.1_Missense_Mutation_p.G59V|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Missense_Mutation_p.G8V|Y_RNA_ENST00000365267.1_RNA|CDK15_ENST00000410091.3_Missense_Mutation_p.G8V			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	59							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)	p.G8V(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CACCCCAGGGGACTTCAAGCT	0.428																																						uc002uyt.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(175-177)GGA>GTA		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						126.0	133.0	131.0					2																	202672269		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202672269G>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.176G>T	2.37:g.202672269G>T	ENSP00000363726:p.Gly59Val					CDK15_uc010ftm.2_5'UTR|CDK15_uc002uys.2_Missense_Mutation_p.G8V|CDK15_uc010ftn.1_Missense_Mutation_p.G8V|CDK15_uc010fto.1_Missense_Mutation_p.G59V	p.G59V	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			2	225	+			59					A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.176G>T		.	.	.	.	.	.	.	.	.	.	G	5.955	0.360217	0.11296	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.69175	-0.36;-0.36;-0.38;-0.37;-0.38	5.45	3.63	0.41609	.	0.410761	0.26432	N	0.024406	T	0.43897	0.1268	N	0.14661	0.345	0.32184	N	0.579999	B;B	0.30973	0.145;0.302	B;B	0.31614	0.133;0.133	T	0.49597	-0.8923	10	0.36615	T	0.2	-2.7109	4.8267	0.13419	0.2343:0.0:0.6122:0.1535	.	59;59	Q96Q40-2;F8W6H8	.;.	V	8;8;59;59;59	ENSP00000386901:G8V;ENSP00000260967:G8V;ENSP00000406472:G59V;ENSP00000412775:G59V;ENSP00000363726:G59V	ENSP00000260967:G8V	G	+	2	0	CDK15	202380514	1.000000	0.71417	0.992000	0.48379	0.037000	0.13140	2.791000	0.47829	1.317000	0.45149	0.650000	0.86243	GGA		PASS	0.428	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			23	277	23	277	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	211018231	211018231	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:211018231T>C	ENST00000281772.9	-	2	1339	c.1076A>G	c.(1075-1077)aAa>aGa	p.K359R	KANSL1L_ENST00000457374.1_Missense_Mutation_p.K359R|KANSL1L_ENST00000429908.2_5'Flank|KANSL1L_ENST00000418791.1_Missense_Mutation_p.K359R|KANSL1L_ENST00000452086.1_Missense_Mutation_p.K359R	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	359						histone acetyltransferase complex (GO:0000123)		p.K359R(1)									TGCCACATTTTTTCTAAGGGT	0.363																																						uc002vds.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1075-1077)AAA>AGA		hypothetical protein LOC151050							70.0	70.0	70.0					2																	211018231		2203	4300	6503	SO:0001583	missense	151050							g.chr2:211018231T>C	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1076A>G	2.37:g.211018231T>C	ENSP00000281772:p.Lys359Arg					C2orf67_uc002vdt.2_Missense_Mutation_p.K359R|C2orf67_uc002vdw.2_Missense_Mutation_p.K359R|C2orf67_uc002vdy.1_Missense_Mutation_p.K359R|C2orf67_uc002vdv.2_Missense_Mutation_p.K359R|C2orf67_uc002vdx.1_Missense_Mutation_p.K359R	p.K359R	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	2	1284	-		Renal(323;0.202)	359					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.1076A>G	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.980|3.980	-0.006574|-0.006574	0.07773|0.07773	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000438563;ENST00000415553|ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.|.	.|.	.|.	5.95|5.95	4.8|4.8	0.61643|0.61643	.|.	0.093739|0.093739	0.47455|0.47455	D|N	0.000235|0.000235	T|T	0.26122|0.26122	0.0637|0.0637	L|L	0.35414|0.35414	1.06|1.06	0.27590|0.27590	N|N	0.949313|0.949313	.|B;B;B;B	.|0.19583	.|0.003;0.005;0.037;0.037	.|B;B;B;B	.|0.19148	.|0.006;0.018;0.024;0.024	T|T	0.24119|0.24119	-1.0169|-1.0169	7|9	0.45353|0.10111	T|T	0.12|0.7	.|.	6.1153|6.1153	0.20124|0.20124	0.0:0.144:0.1385:0.7174|0.0:0.144:0.1385:0.7174	.|.	.|359;359;359;359	.|A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.|.;.;.;CB067_HUMAN	E|R	33;78|359	.|.	ENSP00000388182:K78E|ENSP00000281772:K359R	K|K	-|-	1|2	0|0	C2orf67|C2orf67	210726476|210726476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.508000|2.508000	0.45450|0.45450	1.090000|1.090000	0.41315|0.41315	0.460000|0.460000	0.39030|0.39030	AAA|AAA		PASS	0.363	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		34	120	34	120	---	---	---	---
AQP12B	653437	broad.mit.edu	37	2	241621951	241621951	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:241621951G>C	ENST00000407834.3	-	1	366	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	90						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.L102V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCGGCCATGAGGAACTCCTGC	0.697																																						uc010fzj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)CTC>GTC		aquaporin 12B							47.0	49.0	48.0					2																	241621951		2203	4300	6503	SO:0001583	missense	653437					integral to membrane	transporter activity	g.chr2:241621951G>C	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.304C>G	2.37:g.241621951G>C	ENSP00000384894:p.Leu102Val					AQP12B_uc002vzt.2_RNA	p.L102V	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	367	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	90					A4QPB9	Missense_Mutation	SNP	ENST00000407834.3	37	c.304C>G	CCDS46560.1	.	.	.	.	.	.	.	.	.	.	.	11.59	1.684995	0.29872	.	.	ENSG00000185176	ENST00000407834	T	0.16196	2.36	2.87	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	M	0.68317	2.08	0.47037	D	0.99929	D	0.89917	1.0	D	0.87578	0.998	T	0.08106	-1.0738	10	0.21014	T	0.42	-4.0735	11.954	0.52970	0.0:0.0:1.0:0.0	.	102	A6NM10-2	.	V	102	ENSP00000384894:L102V	ENSP00000384894:L102V	L	-	1	0	AQP12B	241270624	1.000000	0.71417	0.901000	0.35422	0.908000	0.53690	6.471000	0.73562	1.903000	0.55091	0.479000	0.44913	CTC		PASS	0.697	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			3	42	3	42	---	---	---	---
CAND2	23066	broad.mit.edu	37	3	12861610	12861610	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:12861610C>T	ENST00000456430.2	+	11	3011	c.2970C>T	c.(2968-2970)gtC>gtT	p.V990V	CAND2_ENST00000295989.5_Silent_p.V897V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	990			V -> I (in dbSNP:rs3817121).		positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.V897V(1)|p.V990V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGAGCACCGTCATCACAGCGG	0.587																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|pancreas(1)	4						c.(2968-2970)GTC>GTT		TBP-interacting protein isoform 1							136.0	148.0	144.0					3																	12861610		2161	4245	6406	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12861610C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2970C>T	3.37:g.12861610C>T						CAND2_uc003bxj.2_Silent_p.V897V	p.V990V	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			11	3019	+			990			HEAT 21.		B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.2970C>T	CCDS54554.1																																																																																				PASS	0.587	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		28	70	28	70	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38938695	38938695	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:38938695T>C	ENST00000302328.3	-	14	2242	c.2044A>G	c.(2044-2046)Aaa>Gaa	p.K682E	SCN11A_ENST00000444237.2_Missense_Mutation_p.K682E|SCN11A_ENST00000450244.1_Missense_Mutation_p.K682E|SCN11A_ENST00000456224.3_Missense_Mutation_p.K682E	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	682					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K682E(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCCAGGATTTGGCTAACTTG	0.408																																						uc011ays.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(2044-2046)AAA>GAA		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						40.0	43.0	42.0					3																	38938695		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938695T>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2044A>G	3.37:g.38938695T>C	ENSP00000307599:p.Lys682Glu					SCN11A_uc010hhn.1_5'Flank	p.K682E	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2243	-			682			Helical; Voltage-sensor; Name=S4 of repeat II; (By similarity).|II.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2044A>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	33	5.282799	0.95489	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.95	5.95	0.96441	Ion transport (1);	0.135391	0.49916	D	0.000130	D	0.99393	0.9786	H	0.94423	3.535	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.98676	1.0690	10	0.66056	D	0.02	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	682	Q9UI33	SCNBA_HUMAN	E	682	ENSP00000307599:K682E;ENSP00000400945:K682E;ENSP00000416757:K682E;ENSP00000408028:K682E	ENSP00000307599:K682E	K	-	1	0	SCN11A	38913699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.281000	0.76405	0.528000	0.53228	AAA		PASS	0.408	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		20	51	20	51	---	---	---	---
CLEC3B	7123	broad.mit.edu	37	3	45077203	45077203	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:45077203G>T	ENST00000296130.4	+	3	576	c.396G>T	c.(394-396)tgG>tgT	p.W132C	CLEC3B_ENST00000490386.1_3'UTR|RNU5B-3P_ENST00000516601.1_RNA|CLEC3B_ENST00000428034.1_Missense_Mutation_p.W90C	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	132	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)	p.W132C(1)		endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	CCGAGATCTGGCTGGGCCTCA	0.677																																					GBM(139;1487 3263 30871)	uc003cok.3																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)TGG>TGT		C-type lectin domain family 3, member B	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						41.0	42.0	41.0					3																	45077203		2203	4300	6503	SO:0001583	missense	7123				skeletal system development	extracellular space	protein binding|sugar binding	g.chr3:45077203G>T		CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.396G>T	3.37:g.45077203G>T	ENSP00000296130:p.Trp132Cys					CLEC3B_uc003col.2_Missense_Mutation_p.W90C	p.W132C	NM_003278	NP_003269	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	3	492	+			132			C-type lectin.		Q6FGX6	Missense_Mutation	SNP	ENST00000296130.4	37	c.396G>T	CCDS2726.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092138	0.76756	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.54071	0.59;0.59	4.53	4.53	0.55603	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90845	0.4726	10	0.87932	D	0	-10.8245	17.6076	0.88042	0.0:0.0:1.0:0.0	.	132	P05452	TETN_HUMAN	C	132;90	ENSP00000296130:W132C;ENSP00000396013:W90C	ENSP00000296130:W132C	W	+	3	0	CLEC3B	45052207	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.360000	0.97119	2.235000	0.73313	0.561000	0.74099	TGG		PASS	0.677	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1	NM_003278		6	49	6	49	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52361927	52361927	+	Silent	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:52361927G>C	ENST00000420323.2	+	6	1029	c.768G>C	c.(766-768)cgG>cgC	p.R256R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	256	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R256R(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGACTGCCGGACTCCCAGAG	0.577																																						uc011bef.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(3)	3						c.(766-768)CGG>CGC		dynein, axonemal, heavy chain 1							75.0	75.0	75.0					3																	52361927		1960	4144	6104	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52361927G>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.768G>C	3.37:g.52361927G>C						DNAH1_uc003ddt.1_Silent_p.R256R	p.R256R	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	1029	+			256			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.768G>C	CCDS46842.1																																																																																				PASS	0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		16	50	16	50	---	---	---	---
NEK4	6787	broad.mit.edu	37	3	52745830	52745830	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:52745830C>T	ENST00000233027.5	-	16	2691	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	NEK4_ENST00000535191.1_Missense_Mutation_p.R741H	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	830					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R830H(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTTCAACTGGCGAGCTTTCAC	0.343																																						uc003dfq.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2488-2490)CGC>CAC		NIMA-related kinase 4							140.0	162.0	154.0					3																	52745830		2202	4300	6502	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52745830C>T	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2489G>A	3.37:g.52745830C>T	ENSP00000233027:p.Arg830His					NEK4_uc011bej.1_Missense_Mutation_p.R741H	p.R830H	NM_003157	NP_003148	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	16	2678	-			830					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.2489G>A	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226851	0.79576	.	.	ENSG00000114904	ENST00000233027;ENST00000535191	T;T	0.79033	-1.12;-1.23	5.58	2.82	0.32997	.	0.000000	0.64402	D	0.000019	D	0.82563	0.5064	L	0.59436	1.845	0.43300	D	0.995297	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.967	T	0.79704	-0.1692	10	0.54805	T	0.06	.	7.0941	0.25299	0.138:0.7175:0.0:0.1445	.	741;830	B7Z200;P51957	.;NEK4_HUMAN	H	830;741	ENSP00000233027:R830H;ENSP00000437703:R741H	ENSP00000233027:R830H	R	-	2	0	NEK4	52720870	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.069000	0.50026	0.392000	0.25172	-0.142000	0.14014	CGC		PASS	0.343	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		33	350	33	350	---	---	---	---
ARL13B	200894	broad.mit.edu	37	3	93722705	93722705	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:93722705G>T	ENST00000394222.3	+	3	608	c.333G>T	c.(331-333)atG>atT	p.M111I	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.M111I|ARL13B_ENST00000535334.1_Missense_Mutation_p.M8I	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	111					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.M111I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AAGAGGCTATGTCAGAAATGC	0.403																																						uc003drc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)ATG>ATT		ADP-ribosylation factor-like 2-like 1 isoform 1							134.0	135.0	134.0					3																	93722705		2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93722705G>T	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.333G>T	3.37:g.93722705G>T	ENSP00000377769:p.Met111Ile					ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Missense_Mutation_p.M96I|ARL13B_uc003drf.2_Missense_Mutation_p.M111I|ARL13B_uc003drg.2_Missense_Mutation_p.M8I	p.M111I	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			3	619	+			111					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.333G>T	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654331	0.47467	.	.	ENSG00000169379	ENST00000535334;ENST00000394222;ENST00000471138	T;T;T	0.62105	0.05;0.05;0.05	5.93	5.05	0.67936	Small GTP-binding protein domain (1);	0.042755	0.85682	D	0.000000	T	0.40040	0.1101	N	0.04043	-0.29	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.18263	0.021;0.021	T	0.33954	-0.9848	10	0.56958	D	0.05	-33.2673	11.6577	0.51328	0.136:0.0:0.864:0.0	.	111;111	B4DLH1;Q3SXY8	.;AR13B_HUMAN	I	8;111;111	ENSP00000445145:M8I;ENSP00000377769:M111I;ENSP00000420780:M111I	ENSP00000377769:M111I	M	+	3	0	ARL13B	95205395	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.859000	0.55987	2.814000	0.96858	0.591000	0.81541	ATG		PASS	0.403	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		23	183	23	183	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983540	97983540	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:97983540C>A	ENST00000383696.2	+	1	453	c.412C>A	c.(412-414)Cgc>Agc	p.R138S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R138S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGCATATGATCGCTATGTAGC	0.373																																						uc003dsi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(412-414)CGC>AGC		olfactory receptor, family 5, subfamily H,							97.0	89.0	92.0					3																	97983540		2203	4297	6500	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983540C>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.412C>A	3.37:g.97983540C>A	ENSP00000373196:p.Arg138Ser						p.R138S	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	412	+			138			Cytoplasmic (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.412C>A	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	14.66	2.603232	0.46423	.	.	ENSG00000230301	ENST00000383696	T	0.77620	-1.11	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000234	D	0.91078	0.7192	H	0.98333	4.205	0.25824	N	0.984244	D	0.76494	0.999	D	0.70935	0.971	T	0.83170	-0.0094	10	0.87932	D	0	.	10.0598	0.42268	0.0:1.0:0.0:0.0	.	138	Q8NGV6	OR5H6_HUMAN	S	138	ENSP00000373196:R138S	ENSP00000373196:R138S	R	+	1	0	OR5H6	99466230	0.992000	0.36948	0.902000	0.35471	0.025000	0.11179	1.210000	0.32370	1.220000	0.43490	0.194000	0.17425	CGC		PASS	0.373	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			37	282	37	282	---	---	---	---
NIT2	56954	broad.mit.edu	37	3	100067652	100067652	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:100067652C>A	ENST00000394140.4	+	7	602	c.511C>A	c.(511-513)Cag>Aag	p.Q171K		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	171	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.Q171K(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CCAAGGCTGCCAGCTGTTGGT	0.488																																						uc003dtv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(511-513)CAG>AAG		nitrilase family, member 2							91.0	83.0	86.0					3																	100067652		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100067652C>A	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.511C>A	3.37:g.100067652C>A	ENSP00000377696:p.Gln171Lys					NIT2_uc011bha.1_Silent_p.A139A	p.Q171K	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN			7	585	+			171			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.511C>A	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	C	6.888	0.533226	0.13188	.	.	ENSG00000114021	ENST00000394140	D	0.86097	-2.07	5.43	4.53	0.55603	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.053433	0.85682	N	0.000000	T	0.69223	0.3087	N	0.11870	0.19	0.52501	D	0.999956	B	0.12630	0.006	B	0.14578	0.011	T	0.62835	-0.6770	10	0.02654	T	1	-17.6552	13.2598	0.60098	0.1591:0.8409:0.0:0.0	.	171	Q9NQR4	NIT2_HUMAN	K	171	ENSP00000377696:Q171K	ENSP00000377696:Q171K	Q	+	1	0	NIT2	101550342	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.813000	0.55636	1.227000	0.43598	0.591000	0.81541	CAG		PASS	0.488	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		19	100	19	100	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100471703	100471703	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:100471703A>T	ENST00000284322.5	-	33	3026	c.2917T>A	c.(2917-2919)Tat>Aat	p.Y973N	ABI3BP_ENST00000383691.4_Missense_Mutation_p.Y927N|ABI3BP_ENST00000471714.1_Missense_Mutation_p.Y1675N	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	973					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.Y1675N(1)|p.Y974N(1)|p.Y927N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AATTTTTTATACCATGTCCTT	0.423																																						uc003dun.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(2917-2919)TAT>AAT		ABI gene family, member 3 (NESH) binding protein							110.0	103.0	105.0					3																	100471703		1863	4098	5961	SO:0001583	missense	25890					extracellular space		g.chr3:100471703A>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2917T>A	3.37:g.100471703A>T	ENSP00000284322:p.Tyr973Asn					ABI3BP_uc003duj.2_Missense_Mutation_p.Y553N|ABI3BP_uc003duk.2_Missense_Mutation_p.Y682N|ABI3BP_uc003dul.2_Missense_Mutation_p.Y803N|ABI3BP_uc011bhd.1_Missense_Mutation_p.Y927N|ABI3BP_uc003dum.2_Missense_Mutation_p.Y384N	p.Y973N	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			33	3002	-			973					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.2917T>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.719716	0.89205	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	T;T;T	0.77620	-1.11;-1.11;-1.11	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.87931	0.6302	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.998	D	0.89186	0.3547	10	0.87932	D	0	-8.7372	16.2853	0.82717	1.0:0.0:0.0:0.0	.	927;973;1675;682	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	N	1675;973;682;384;927	ENSP00000420524:Y1675N;ENSP00000284322:Y973N;ENSP00000373189:Y927N	ENSP00000284322:Y973N	Y	-	1	0	ABI3BP	101954393	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.177000	0.94849	2.236000	0.73375	0.528000	0.53228	TAT		PASS	0.423	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			42	191	42	191	---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101384599	101384599	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:101384599G>A	ENST00000312938.4	-	4	1412	c.832C>T	c.(832-834)Cta>Tta	p.L278L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	278	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.L278L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCAAAACTTAGTACAGAAGTA	0.353																																						uc003dve.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(832-834)CTA>TTA		zinc finger protein ZNF-U69274							64.0	66.0	65.0					3																	101384599		2203	4300	6503	SO:0001819	synonymous_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101384599G>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.832C>T	3.37:g.101384599G>A							p.L278L	NM_014415	NP_055230	O95625	ZBT11_HUMAN			4	1062	-			278			BTB.		Q2NKP9	Silent	SNP	ENST00000312938.4	37	c.832C>T	CCDS2943.1																																																																																				PASS	0.353	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		34	156	34	156	---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118865207	118865207	+	Silent	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:118865207A>T	ENST00000295622.1	+	1	211	c.171A>T	c.(169-171)ctA>ctT	p.L57L	IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	57								p.L57L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGACTGCCCTAAGAGTGCCTA	0.537																																						uc003ecb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(169-171)CTA>CTT		hypothetical protein LOC152405							86.0	60.0	69.0					3																	118865207		2203	4300	6503	SO:0001819	synonymous_variant	152405							g.chr3:118865207A>T	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.171A>T	3.37:g.118865207A>T						IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.L57L	p.L57L	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	211	+			57					A1L4B7	Silent	SNP	ENST00000295622.1	37	c.171A>T	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	A	3.557	-0.090548	0.07053	.	.	ENSG00000163424	ENST00000460150	.	.	.	2.81	-5.62	0.02481	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0686	7.202	0.25887	0.1865:0.4168:0.3966:0.0	.	.	.	.	X	21	.	.	K	+	1	0	C3orf30	120347897	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.888000	0.04148	-1.818000	0.01218	-1.214000	0.01621	AAG		PASS	0.537	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		28	53	28	53	---	---	---	---
CASR	846	broad.mit.edu	37	3	121975948	121975948	+	Missense_Mutation	SNP	G	G	A	rs193922432		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:121975948G>A	ENST00000490131.1	+	3	578	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CASR_ENST00000498619.1_Missense_Mutation_p.R69H|CASR_ENST00000296154.5_Missense_Mutation_p.R69H	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	69					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R69H(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGTGGGTTTCGCTGGTTACAG	0.448																																						uc003eev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(205-207)CGC>CAC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						85.0	88.0	87.0					3																	121975948		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121975948G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.206G>A	3.37:g.121975948G>A	ENSP00000418685:p.Arg69His					CASR_uc003eew.3_Missense_Mutation_p.R69H	p.R69H	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	3	578	+			69			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.206G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217624	0.58560	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.83914	-1.78;-1.78;-1.78	5.84	4.97	0.65823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89044	0.6603	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.89795	0.3971	10	0.66056	D	0.02	.	14.2176	0.65805	0.0714:0.0:0.9286:0.0	.	69;69	E7ENE0;P41180	.;CASR_HUMAN	H	69	ENSP00000418685:R69H;ENSP00000420194:R69H;ENSP00000296154:R69H	ENSP00000296154:R69H	R	+	2	0	CASR	123458638	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	9.869000	0.99810	1.473000	0.48159	-0.150000	0.13652	CGC		PASS	0.448	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		5	230	5	230	---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	128060231	128060231	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:128060231G>A	ENST00000254730.6	+	5	996	c.942G>A	c.(940-942)gcG>gcA	p.A314A	EEFSEC_ENST00000483457.1_Silent_p.A259A|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	314					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.A314A(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTGTCCATGCGGCCCTCATCT	0.597																																						uc003eki.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(940-942)GCG>GCA		eukaryotic elongation factor,							81.0	77.0	79.0					3																	128060231		2203	4300	6503	SO:0001819	synonymous_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060231G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.942G>A	3.37:g.128060231G>A						EEFSEC_uc003ekj.2_Silent_p.A259A	p.A314A	NM_021937	NP_068756	P57772	SELB_HUMAN			5	980	+			314					Q96HZ6	Silent	SNP	ENST00000254730.6	37	c.942G>A	CCDS33849.1																																																																																				PASS	0.597	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		11	182	11	182	---	---	---	---
HMCES	56941	broad.mit.edu	37	3	129023455	129023455	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:129023455C>G	ENST00000383463.4	+	7	941	c.852C>G	c.(850-852)agC>agG	p.S284R	HMCES_ENST00000417226.2_Missense_Mutation_p.S242R|HMCES_ENST00000502878.2_Missense_Mutation_p.S284R|HMCES_ENST00000389735.3_Missense_Mutation_p.S284R	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	284							DNA binding (GO:0003677)|peptidase activity (GO:0008233)	p.S284R(1)									GTGGCAGTAGCCAGAGGATGT	0.483																																						uc003elt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)AGC>AGG		hypothetical protein LOC56941							139.0	138.0	139.0					3																	129023455		2203	4300	6503	SO:0001583	missense	56941							g.chr3:129023455C>G	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.852C>G	3.37:g.129023455C>G	ENSP00000372955:p.Ser284Arg					C3orf37_uc003elu.2_Missense_Mutation_p.S242R|C3orf37_uc003elv.2_Missense_Mutation_p.S284R|C3orf37_uc003elw.2_Missense_Mutation_p.S284R	p.S284R	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN			7	940	+			284					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.852C>G	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128449	0.37533	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735	.	.	.	4.02	2.16	0.27623	.	0.563605	0.20470	N	0.091715	T	0.57917	0.2086	M	0.75264	2.295	0.58432	D	0.999993	B;B	0.26635	0.155;0.017	B;B	0.23716	0.048;0.014	T	0.56444	-0.7978	9	0.62326	D	0.03	-12.2584	7.5655	0.27876	0.0:0.7732:0.0:0.2268	.	242;284	E7EMP6;Q96FZ2	.;CC037_HUMAN	R	236;284;242;284;284	.	ENSP00000372955:S284R	S	+	3	2	C3orf37	130506145	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.466000	0.22019	0.417000	0.25871	0.591000	0.81541	AGC		PASS	0.483	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		51	490	51	490	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128091	147128091	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:147128091C>T	ENST00000282928.4	+	1	921	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	64					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F64F(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGACGGCCTTCACGTCGCAGG	0.692																																						uc003ewe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(190-192)TTC>TTT		zinc finger protein of the cerebellum 1							18.0	21.0	20.0					3																	147128091		2187	4290	6477	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128091C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.192C>T	3.37:g.147128091C>T							p.F64F	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	911	+			64					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.192C>T	CCDS3136.1																																																																																				PASS	0.692	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		6	55	6	55	---	---	---	---
SI	6476	broad.mit.edu	37	3	164748556	164748556	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:164748556C>T	ENST00000264382.3	-	25	2898	c.2836G>A	c.(2836-2838)Gat>Aat	p.D946N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	946	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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.D946N(1)|p.D946Y(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)	AAATCTGCATCTGGATAACAA	0.328										HNSCC(35;0.089)																												uc003fei.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2836-2838)GAT>AAT		sucrase-isomaltase	Acarbose(DB00284)						93.0	99.0	97.0					3																	164748556		2202	4296	6498	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.chr3:164748556C>T	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.2836G>A	3.37:g.164748556C>T	ENSP00000264382:p.Asp946Asn	HNSCC(35;0.089)					p.D946N	NM_001041	NP_001032	P14410	SUIS_HUMAN			25	2898	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	946			Lumenal.|P-type 2.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2836G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302801	0.60195	.	.	ENSG00000090402	ENST00000264382	T	0.55413	0.52	4.94	4.94	0.65067	P-type trefoil (4);	0.121313	0.56097	D	0.000024	T	0.73442	0.3587	M	0.83223	2.63	0.34473	D	0.70297	D	0.76494	0.999	D	0.71414	0.973	T	0.83180	-0.0089	10	0.72032	D	0.01	.	15.0109	0.71550	0.0:1.0:0.0:0.0	.	946	P14410	SUIS_HUMAN	N	946	ENSP00000264382:D946N	ENSP00000264382:D946N	D	-	1	0	SI	166231250	0.998000	0.40836	0.998000	0.56505	0.217000	0.24651	1.941000	0.40233	2.563000	0.86464	0.655000	0.94253	GAT		PASS	0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		142	225	142	225	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164908581	164908581	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:164908581C>A	ENST00000475390.1	-	2	481	c.38G>T	c.(37-39)aGg>aTg	p.R13M	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R13M			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	13					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R13M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCACAACATCCTTCCTCTGTG	0.398										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(37-39)AGG>ATG		slit and trk like 3 protein precursor							81.0	75.0	77.0					3																	164908581		2200	4297	6497	SO:0001583	missense	22865					integral to membrane		g.chr3:164908581C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.38G>T	3.37:g.164908581C>A	ENSP00000420091:p.Arg13Met	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.R13M	p.R13M	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	482	-			13					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.38G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472188	0.26423	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.71103	0.58;0.58;-0.54	6.01	4.24	0.50183	.	0.000000	0.41938	D	0.000785	T	0.54549	0.1865	L	0.29908	0.895	0.37890	D	0.930688	D	0.56287	0.975	B	0.42771	0.397	T	0.59284	-0.7483	10	0.02654	T	1	-16.1095	13.0227	0.58799	0.0:0.8695:0.0:0.1305	.	13	O94933	SLIK3_HUMAN	M	13	ENSP00000420091:R13M;ENSP00000241274:R13M;ENSP00000419611:R13M	ENSP00000241274:R13M	R	-	2	0	SLITRK3	166391275	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.080000	0.50112	0.890000	0.36211	-0.137000	0.14449	AGG		PASS	0.398	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		14	180	14	180	---	---	---	---
LRRIQ4	344657	broad.mit.edu	37	3	169540063	169540063	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:169540063C>T	ENST00000340806.6	+	1	354	c.354C>T	c.(352-354)caC>caT	p.H118H		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	118								p.H118H(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCTTCCTCCACGCCCTGCGCG	0.612																																						uc003fgb.2																			2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|lung(1)		0						c.(352-354)CAC>CAT		leucine-rich repeats and IQ motif containing 4							55.0	60.0	58.0					3																	169540063		2075	4210	6285	SO:0001819	synonymous_variant	344657							g.chr3:169540063C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.354C>T	3.37:g.169540063C>T							p.H118H	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	354	+			118			LRR 5.			Silent	SNP	ENST00000340806.6	37	c.354C>T	CCDS46951.1																																																																																				PASS	0.612	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		15	229	15	229	---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	rs200600060		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498																																						uc003fgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1975-1977)GCG>GTG		solute carrier family 7 (cationic amino acid		G	VAL/ALA	0,4406		0,0,2203	101.0	107.0	105.0		1976	4.9	0.9	3		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC7A14	NM_020949.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	659/772	170198095	2,13004	2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198095G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1976C>T	3.37:g.170198095G>A	ENSP00000231706:p.Ala659Val					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.A659V	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2292	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		659			Helical; (Potential).		B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1976C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525393	0.44969	0.0	2.33E-4	ENSG00000013293	ENST00000231706	D	0.87103	-2.21	5.81	4.94	0.65067	.	0.154542	0.56097	D	0.000025	T	0.72867	0.3514	N	0.04203	-0.255	0.47065	D	0.999306	B	0.24576	0.106	B	0.15484	0.013	T	0.68349	-0.5432	10	0.25751	T	0.34	.	14.9962	0.71433	0.0683:0.0:0.9317:0.0	.	659	Q8TBB6	S7A14_HUMAN	V	659	ENSP00000231706:A659V	ENSP00000231706:A659V	A	-	2	0	SLC7A14	171680789	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	7.611000	0.82962	1.455000	0.47813	0.655000	0.94253	GCG		PASS	0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		5	415	5	415	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180327959	180327959	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:180327959G>C	ENST00000296015.4	+	12	2074	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	648							RNA binding (GO:0003723)	p.E648Q(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGGAGATTTGAAAAGGATAT	0.393																																						uc003fkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1942-1944)GAA>CAA		tetratricopeptide repeat domain 14 isoform a							66.0	74.0	71.0					3																	180327959		2202	4297	6499	SO:0001583	missense	151613						RNA binding	g.chr3:180327959G>C	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1942G>C	3.37:g.180327959G>C	ENSP00000296015:p.Glu648Gln					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	p.E648Q	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2074	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		648					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1942G>C	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005785	0.74932	.	.	ENSG00000163728	ENST00000296015	T	0.26957	1.7	6.04	6.04	0.98038	.	0.107907	0.64402	D	0.000009	T	0.39682	0.1087	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.08006	-1.0743	10	0.66056	D	0.02	-16.5253	14.7083	0.69208	0.0686:0.0:0.9314:0.0	.	648	Q96N46	TTC14_HUMAN	Q	648	ENSP00000296015:E648Q	ENSP00000296015:E648Q	E	+	1	0	TTC14	181810653	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.439000	0.73430	2.873000	0.98535	0.563000	0.77884	GAA		PASS	0.393	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		24	224	24	224	---	---	---	---
LAMP3	27074	broad.mit.edu	37	3	182870216	182870216	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:182870216A>G	ENST00000265598.3	-	3	1090	c.835T>C	c.(835-837)Tcc>Ccc	p.S279P	LAMP3_ENST00000466939.1_Missense_Mutation_p.S255P	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	279					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.S279P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGAAGGTTGGATTTTCGGGTG	0.468																																						uc003flh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(835-837)TCC>CCC		lysosomal-associated membrane protein 3							169.0	180.0	176.0					3																	182870216		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182870216A>G	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.835T>C	3.37:g.182870216A>G	ENSP00000265598:p.Ser279Pro						p.S279P	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		3	1059	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		279			Lumenal (Potential).		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.835T>C	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121752	0.56613	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.34667	1.35;1.35	5.52	1.61	0.23674	.	0.340107	0.25604	N	0.029530	T	0.52175	0.1718	M	0.74881	2.28	0.28906	N	0.892982	D	0.76494	0.999	D	0.77557	0.99	T	0.42413	-0.9453	10	0.72032	D	0.01	-16.1764	5.7094	0.17927	0.5031:0.3353:0.0:0.1616	.	279	Q9UQV4	LAMP3_HUMAN	P	279;255	ENSP00000265598:S279P;ENSP00000418912:S255P	ENSP00000265598:S279P	S	-	1	0	LAMP3	184352910	0.994000	0.37717	0.897000	0.35233	0.511000	0.34104	0.745000	0.26259	0.986000	0.38683	0.528000	0.53228	TCC		PASS	0.468	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			53	552	53	552	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194147857	194147857	+	Silent	SNP	A	A	C	rs201703070	byFrequency	TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr3:194147857A>C	ENST00000439040.1	-	29	3863	c.3072T>G	c.(3070-3072)ggT>ggG	p.G1024G	ATP13A3_ENST00000256031.4_Silent_p.G1024G			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1024						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.G1024G(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCCAAAAAAAACCCAAAGATT	0.388													A|||	2	0.000399361	0.0	0.0014	5008	,	,		14951	0.001		0.0	False		,,,				2504	0.0					uc003fty.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3070-3072)GGT>GGG		ATPase type 13A3							67.0	66.0	66.0					3																	194147857		1814	4083	5897	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194147857A>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3072T>G	3.37:g.194147857A>C						ATP13A3_uc003ftx.3_5'Flank	p.G1024G	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	28	3474	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1024					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.3072T>G	CCDS43187.1																																																																																				PASS	0.388	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		17	148	17	148	---	---	---	---
GABRB1	2560	broad.mit.edu	37	4	47427824	47427824	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:47427824G>T	ENST00000295454.3	+	9	1506	c.1214G>T	c.(1213-1215)cGc>cTc	p.R405L	GABRB1_ENST00000538619.1_Missense_Mutation_p.R335L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	405					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.R405L(1)|p.R405H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCCAGTACCGCAAGCCCCTG	0.662																																						uc003gxh.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)	2						c.(1213-1215)CGC>CTC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						39.0	46.0	43.0					4																	47427824		2203	4299	6502	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427824G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1214G>T	4.37:g.47427824G>T	ENSP00000295454:p.Arg405Leu					GABRB1_uc011bze.1_Missense_Mutation_p.R335L	p.R405L	NM_000812	NP_000803	P18505	GBRB1_HUMAN			9	1588	+			405			Cytoplasmic (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1214G>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347125	0.82022	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85629	-2.01;-2.01	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.145674	0.46145	D	0.000310	D	0.90359	0.6983	L	0.48362	1.52	0.80722	D	1	B;D	0.76494	0.094;0.999	B;D	0.85130	0.076;0.997	D	0.89944	0.4075	10	0.52906	T	0.07	-13.921	19.3205	0.94236	0.0:0.0:1.0:0.0	.	335;405	F5GXV5;P18505	.;GBRB1_HUMAN	L	405;335	ENSP00000295454:R405L;ENSP00000440330:R335L	ENSP00000295454:R405L	R	+	2	0	GABRB1	47122581	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.519000	0.98025	2.803000	0.96430	0.650000	0.86243	CGC		PASS	0.662	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			17	22	17	22	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48512145	48512145	+	Silent	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:48512145G>C	ENST00000503238.1	-	56	8324	c.8325C>G	c.(8323-8325)ctC>ctG	p.L2775L	FRYL_ENST00000507873.2_Silent_p.L171L|FRYL_ENST00000358350.4_Silent_p.L2775L|FRYL_ENST00000264319.7_Silent_p.L171L|FRYL_ENST00000537810.1_Silent_p.L2775L			O94915	FRYL_HUMAN	FRY-like	2775					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.L2775L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CACCAAACTTGAGTGTTTCCA	0.408																																						uc003gyh.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(8323-8325)CTC>CTG		furry-like							85.0	81.0	82.0					4																	48512145		1873	4122	5995	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48512145G>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8325C>G	4.37:g.48512145G>C						FRYL_uc003gyf.1_Silent_p.L171L|FRYL_uc003gyg.1_Silent_p.L1471L	p.L2775L	NM_015030	NP_055845	O94915	FRYL_HUMAN			59	8930	-			2775					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.8325C>G	CCDS43227.1																																																																																				PASS	0.408	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			48	119	48	119	---	---	---	---
UGT2B11	10720	broad.mit.edu	37	4	70080107	70080107	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:70080107C>G	ENST00000446444.1	-	1	342	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	112					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E112Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTTCTTGTTCTTGTGAAAAA	0.289																																						uc003heh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(334-336)GAA>CAA		UDP glucuronosyltransferase 2 family,							33.0	41.0	39.0					4																	70080107		2166	4275	6441	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080107C>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.334G>C	4.37:g.70080107C>G	ENSP00000387683:p.Glu112Gln					uc003hei.1_Intron	p.E112Q	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	343	-			112					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.334G>C	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	5.968	0.362544	0.11296	.	.	ENSG00000213759	ENST00000446444	T	0.59364	0.27	1.96	-3.91	0.04168	.	31.544000	0.01504	U	0.017612	T	0.41696	0.1170	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.19946	0.027	T	0.18304	-1.0341	10	0.42905	T	0.14	.	2.705	0.05159	0.0:0.1828:0.2695:0.5478	.	112	O75310	UDB11_HUMAN	Q	112	ENSP00000387683:E112Q	ENSP00000387683:E112Q	E	-	1	0	UGT2B11	70114696	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.486000	0.00455	-0.501000	0.06605	-1.109000	0.02080	GAA		PASS	0.289	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		12	164	12	164	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73178143	73178143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:73178143C>A	ENST00000286657.4	-	13	1822	c.1786G>T	c.(1786-1788)Gag>Tag	p.E596*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	596	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E596*(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCTGGTACTCAAAATTAACA	0.428																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1786-1788)GAG>TAG		ADAM metallopeptidase with thrombospondin type 1							132.0	117.0	122.0					4																	73178143		2203	4300	6503	SO:0001587	stop_gained	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73178143C>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1786G>T	4.37:g.73178143C>A	ENSP00000286657:p.Glu596*					ADAMTS3_uc003hgl.2_5'Flank	p.E596*	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		13	1823	-			596			TSP type-1 1.		A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	ENST00000286657.4	37	c.1786G>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	41	8.784328	0.98952	.	.	ENSG00000156140	ENST00000286657	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	.	.	.	X	596	.	ENSP00000286657:E596X	E	-	1	0	ADAMTS3	73397007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.813000	0.96785	0.655000	0.94253	GAG		PASS	0.428	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			4	148	4	148	---	---	---	---
HERC6	55008	broad.mit.edu	37	4	89326086	89326086	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:89326086A>T	ENST00000264346.7	+	9	1210	c.1151A>T	c.(1150-1152)cAg>cTg	p.Q384L	HERC6_ENST00000380265.5_Missense_Mutation_p.Q384L	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	384					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q384L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CGAATTAGCCAGTCCATGGCA	0.423																																						uc011cdi.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|kidney(1)	5						c.(1150-1152)CAG>CTG		hect domain and RLD 6 isoform 1							131.0	123.0	126.0					4																	89326086		1856	4102	5958	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89326086A>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1151A>T	4.37:g.89326086A>T	ENSP00000264346:p.Gln384Leu					HERC6_uc011cdj.1_Missense_Mutation_p.Q384L|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron	p.Q384L	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	9	1334	+		Hepatocellular(203;0.114)	384					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1151A>T	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732132	0.30684	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.38560	1.13;1.14	4.79	-3.38	0.04883	.	1.447490	0.04172	N	0.324907	T	0.34803	0.0910	L	0.36672	1.1	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.08055	0.003;0.001	T	0.31752	-0.9932	10	0.29301	T	0.29	.	14.3248	0.66512	0.2835:0.7165:0.0:0.0	.	384;384	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	L	384	ENSP00000369617:Q384L;ENSP00000264346:Q384L	ENSP00000264346:Q384L	Q	+	2	0	HERC6	89545109	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.138000	0.16016	-0.702000	0.05056	-0.636000	0.03981	CAG		PASS	0.423	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			71	92	71	92	---	---	---	---
BANK1	55024	broad.mit.edu	37	4	102946555	102946555	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:102946555G>A	ENST00000322953.4	+	9	1757	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000428908.1_Missense_Mutation_p.D362N|BANK1_ENST00000444316.2_Missense_Mutation_p.D465N|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Missense_Mutation_p.D362N|BANK1_ENST00000504592.1_Missense_Mutation_p.D480N	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	495					B cell activation (GO:0042113)			p.D495N(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCCTGGTGCTGATCCAGAAAA	0.502																																						uc003hvy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1483-1485)GAT>AAT		B-cell scaffold protein with ankyrin repeats 1							145.0	122.0	130.0					4																	102946555		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102946555G>A	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1483G>A	4.37:g.102946555G>A	ENSP00000320509:p.Asp495Asn					BANK1_uc003hvx.3_Missense_Mutation_p.D480N|BANK1_uc010ill.2_Missense_Mutation_p.D362N|BANK1_uc003hvz.3_Missense_Mutation_p.D465N	p.D495N	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	9	1757	+		Hepatocellular(203;0.217)	495					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.1483G>A	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	4.872	0.162168	0.09287	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.9	0.221	0.15283	.	0.776034	0.11403	N	0.567609	T	0.21186	0.0510	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.11329	0.003;0.006;0.006	T	0.25082	-1.0142	10	0.19590	T	0.45	.	9.7314	0.40363	0.3484:0.0:0.6516:0.0	.	362;495;480	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	N	480;495;362;362;465	ENSP00000421443:D480N;ENSP00000320509:D495N;ENSP00000412748:D362N;ENSP00000422314:D362N;ENSP00000388817:D465N	ENSP00000320509:D495N	D	+	1	0	BANK1	103165578	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.376000	0.20535	0.084000	0.17077	0.591000	0.81541	GAT		PASS	0.502	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		13	104	13	104	---	---	---	---
NDNF	79625	broad.mit.edu	37	4	121958642	121958642	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:121958642A>G	ENST00000379692.4	-	4	1010	c.484T>C	c.(484-486)Tat>Cat	p.Y162H	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	162					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.Y162H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GTGGTGGCATATACTTTGAAA	0.448																																						uc003idq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)TAT>CAT		hypothetical protein LOC79625 precursor							183.0	184.0	184.0					4																	121958642		2035	4200	6235	SO:0001583	missense	79625							g.chr4:121958642A>G	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.484T>C	4.37:g.121958642A>G	ENSP00000369014:p.Tyr162His						p.Y162H	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1011	-			162					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.484T>C	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990357	0.74589	.	.	ENSG00000173376	ENST00000379692	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79560	-0.1753	9	0.87932	D	0	-25.7667	16.6093	0.84858	1.0:0.0:0.0:0.0	.	162	Q8TB73	NDNF_HUMAN	H	162	.	ENSP00000369014:Y162H	Y	-	1	0	NDNF	122178092	1.000000	0.71417	0.897000	0.35233	0.968000	0.65278	9.326000	0.96389	2.324000	0.78689	0.533000	0.62120	TAT		PASS	0.448	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		95	150	95	150	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590641	125590641	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:125590641G>C	ENST00000504087.1	-	4	4828	c.3791C>G	c.(3790-3792)tCa>tGa	p.S1264*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.S1085*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1264	Ser-rich.							p.S1264*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGCTTTAGTTGACTTCAAACT	0.403																																						uc003ifg.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(3790-3792)TCA>TGA		ankyrin repeat domain 50							167.0	175.0	172.0					4																	125590641		2203	4300	6503	SO:0001587	stop_gained	57182							g.chr4:125590641G>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3791C>G	4.37:g.125590641G>C	ENSP00000425658:p.Ser1264*					ANKRD50_uc011cgo.1_Nonsense_Mutation_p.S1085*|ANKRD50_uc010inw.2_Nonsense_Mutation_p.S1264*	p.S1264*	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	4057	-			1264			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP	ENST00000504087.1	37	c.3791C>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	49	15.975370	0.99850	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.14	5.14	0.70334	.	0.142496	0.49305	D	0.000153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.8052	0.92034	0.0:0.0:1.0:0.0	.	.	.	.	X	1264;1085	.	ENSP00000425658:S1264X	S	-	2	0	ANKRD50	125810091	1.000000	0.71417	0.969000	0.41365	0.977000	0.68977	9.060000	0.93907	2.676000	0.91093	0.561000	0.74099	TCA		PASS	0.403	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		48	632	48	632	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072945	134072945	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:134072945C>A	ENST00000264360.5	+	1	2476	c.1650C>A	c.(1648-1650)agC>agA	p.S550R	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S550R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACGCTGGCAGCCCCCAGGCGC	0.587																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1648-1650)AGC>AGA		protocadherin 10 isoform 1 precursor							49.0	54.0	52.0					4																	134072945		2054	4067	6121	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072945C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1650C>A	4.37:g.134072945C>A	ENSP00000264360:p.Ser550Arg					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.S550R	p.S550R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2476	+			550			Extracellular (Potential).|Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1650C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068583	0.20067	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52057	0.68	4.51	1.75	0.24633	Cadherin (4);Cadherin-like (1);	0.000000	0.51477	D	0.000095	T	0.34890	0.0913	L	0.45581	1.43	0.31937	N	0.611397	B;B	0.28470	0.213;0.007	B;B	0.34536	0.185;0.033	T	0.26780	-1.0093	10	0.16420	T	0.52	.	4.3486	0.11144	0.1568:0.5679:0.0:0.2752	.	550;550	Q9P2E7;Q96SF0	PCD10_HUMAN;.	R	550	ENSP00000264360:S550R	ENSP00000264360:S550R	S	+	3	2	PCDH10	134292395	0.000000	0.05858	1.000000	0.80357	0.881000	0.50899	-0.372000	0.07504	0.508000	0.28173	-0.137000	0.14449	AGC		PASS	0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		25	138	25	138	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146824008	146824008	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:146824008C>A	ENST00000508784.1	-	2	630	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.D135Y			Q17R98	ZN827_HUMAN	zinc finger protein 827	135					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.D135Y(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTGCAGCATCGAGTTTGAGG	0.597																																						uc003ikn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(403-405)GAT>TAT		zinc finger protein 827							45.0	41.0	42.0					4																	146824008		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824008C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.403G>T	4.37:g.146824008C>A	ENSP00000421863:p.Asp135Tyr					ZNF827_uc003ikm.2_Missense_Mutation_p.D135Y|ZNF827_uc010iox.2_Intron	p.D135Y	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			2	451	-	all_hematologic(180;0.151)		135					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.403G>T		.	.	.	.	.	.	.	.	.	.	C	17.68	3.448456	0.63178	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.10099	2.91;2.95	5.84	5.84	0.93424	.	0.193502	0.56097	D	0.000038	T	0.19167	0.0460	N	0.19112	0.55	0.53688	D	0.999972	D;D	0.60575	0.979;0.988	P;P	0.58391	0.693;0.838	T	0.01165	-1.1431	10	0.87932	D	0	-10.7616	20.1278	0.97990	0.0:1.0:0.0:0.0	.	135;135	Q17R98;Q17R98-2	ZN827_HUMAN;.	Y	135;135;134	ENSP00000421863:D135Y;ENSP00000368761:D135Y	ENSP00000281318:D134Y	D	-	1	0	ZNF827	147043458	1.000000	0.71417	0.434000	0.26772	0.535000	0.34838	7.416000	0.80143	2.768000	0.95171	0.561000	0.74099	GAT		PASS	0.597	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		3	52	3	52	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146824215	146824215	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:146824215A>T	ENST00000508784.1	-	2	423	c.196T>A	c.(196-198)Tcc>Acc	p.S66T	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.S66T			Q17R98	ZN827_HUMAN	zinc finger protein 827	66					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.S66T(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTGTCCGGGGACGTGGACTGC	0.567																																						uc003ikn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(196-198)TCC>ACC		zinc finger protein 827							81.0	73.0	76.0					4																	146824215		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824215A>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.196T>A	4.37:g.146824215A>T	ENSP00000421863:p.Ser66Thr					ZNF827_uc003ikm.2_Missense_Mutation_p.S66T|ZNF827_uc010iox.2_Intron	p.S66T	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			2	244	-	all_hematologic(180;0.151)		66					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.196T>A		.	.	.	.	.	.	.	.	.	.	A	19.95	3.921897	0.73213	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.09445	2.98;3.02	5.93	5.93	0.95920	.	0.046847	0.85682	D	0.000000	T	0.09642	0.0237	L	0.27053	0.805	0.39564	D	0.969173	B;B	0.33637	0.296;0.42	B;B	0.28465	0.041;0.09	T	0.09574	-1.0668	10	0.87932	D	0	-18.862	16.3829	0.83481	1.0:0.0:0.0:0.0	.	66;66	Q17R98;Q17R98-2	ZN827_HUMAN;.	T	66;66;65	ENSP00000421863:S66T;ENSP00000368761:S66T	ENSP00000281318:S65T	S	-	1	0	ZNF827	147043665	1.000000	0.71417	0.936000	0.37596	0.948000	0.59901	6.598000	0.74122	2.271000	0.75665	0.459000	0.35465	TCC		PASS	0.567	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		49	106	49	106	---	---	---	---
TLR2	7097	broad.mit.edu	37	4	154624198	154624198	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:154624198C>T	ENST00000260010.6	+	1	1547	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	47					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.P47S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AAACTCCATTCCCTCAGGGCT	0.498																																						uc003inq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(139-141)CCC>TCC		toll-like receptor 2 precursor							82.0	75.0	77.0					4																	154624198		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624198C>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.139C>T	4.37:g.154624198C>T	ENSP00000260010:p.Pro47Ser					TLR2_uc003inr.2_Missense_Mutation_p.P47S|TLR2_uc003ins.2_Missense_Mutation_p.P47S	p.P47S	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	358	+	all_hematologic(180;0.093)	Renal(120;0.117)	47			Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.139C>T	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761794	0.69763	.	.	ENSG00000137462	ENST00000260010	T	0.01323	5.01	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.04861	0.0131	N	0.19112	0.55	0.52099	D	0.999942	D	0.89917	1.0	D	0.87578	0.998	T	0.55817	-0.8081	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	47	O60603	TLR2_HUMAN	S	47	ENSP00000260010:P47S	ENSP00000260010:P47S	P	+	1	0	TLR2	154843648	0.997000	0.39634	0.981000	0.43875	0.665000	0.39181	3.800000	0.55537	2.861000	0.98227	0.655000	0.94253	CCC		PASS	0.498	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			4	208	4	208	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160244614	160244614	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:160244614G>T	ENST00000264431.4	+	5	930	c.511G>T	c.(511-513)Gac>Tac	p.D171Y		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	171					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.D159Y(1)|p.D159N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGATTAGCTGGACTCCTGGTC	0.398																																						uc003iqg.3																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(511-513)GAC>TAC		Rap guanine nucleotide exchange factor 2							107.0	100.0	102.0					4																	160244614		1886	4107	5993	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160244614G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.511G>T	4.37:g.160244614G>T	ENSP00000264431:p.Asp171Tyr						p.D171Y	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	5	821	+	all_hematologic(180;0.24)		171			cNMP.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.511G>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682568	0.88542	.	.	ENSG00000109756	ENST00000511336;ENST00000264431;ENST00000514565	D;D;D	0.87179	-2.22;-2.22;-2.22	5.57	5.57	0.84162	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94813	0.7980	10	0.87932	D	0	.	19.537	0.95256	0.0:0.0:1.0:0.0	.	171	Q9Y4G8	RPGF2_HUMAN	Y	99;171;152	ENSP00000421602:D99Y;ENSP00000264431:D171Y;ENSP00000422361:D152Y	ENSP00000264431:D171Y	D	+	1	0	RAPGEF2	160464064	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.813000	0.99286	2.615000	0.88500	0.467000	0.42956	GAC		PASS	0.398	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		58	103	58	103	---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185320124	185320124	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:185320124C>T	ENST00000393593.3	-	7	846	c.639G>A	c.(637-639)ccG>ccA	p.P213P		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	213					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P213P(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TCATGCTGACCGGCTGCTCGT	0.587																																						uc003iwf.3																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)	1						c.(637-639)CCG>CCA		interferon regulatory factor 2							116.0	105.0	109.0					4																	185320124		2203	4300	6503	SO:0001819	synonymous_variant	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185320124C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.639G>A	4.37:g.185320124C>T							p.P213P	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	7	839	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	213					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Silent	SNP	ENST00000393593.3	37	c.639G>A	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379885	0.24944	.	.	ENSG00000168310	ENST00000505067	.	.	.	6.02	-5.44	0.02624	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-19.7686	1.866	0.03198	0.146:0.1814:0.2496:0.4231	.	.	.	.	S	147	.	.	G	-	1	0	IRF2	185557118	0.024000	0.19004	0.979000	0.43373	0.945000	0.59286	-1.266000	0.02842	-0.554000	0.06150	-0.119000	0.15052	GGT		PASS	0.587	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			55	100	55	100	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5461158	5461158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:5461158G>T	ENST00000296564.7	+	13	1933	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		571					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.E571*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACGAATTAATGAAATCACTTC	0.378																																						uc003jdm.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1711-1713)GAA>TAA		hypothetical protein LOC23379							139.0	137.0	138.0					5																	5461158		1865	4105	5970	SO:0001587	stop_gained	23379							g.chr5:5461158G>T																												ENST00000296564.7:c.1711G>T	5.37:g.5461158G>T	ENSP00000296564:p.Glu571*						p.E571*	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	1933	+			571					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	c.1711G>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	42	9.374619	0.99151	.	.	ENSG00000164151	ENST00000296564	.	.	.	4.94	4.94	0.65067	.	1.103550	0.06726	N	0.775791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-3.6674	13.6876	0.62526	0.0:0.0:1.0:0.0	.	.	.	.	X	571	.	ENSP00000296564:E571X	E	+	1	0	KIAA0947	5514158	0.050000	0.20438	0.012000	0.15200	0.938000	0.57974	2.645000	0.46621	2.284000	0.76573	0.305000	0.20034	GAA		PASS	0.378	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			66	266	66	266	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5464055	5464055	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:5464055G>A	ENST00000296564.7	+	13	4830	c.4608G>A	c.(4606-4608)gcG>gcA	p.A1536A		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1536					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.A1536A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGATTGTTGCGTCTGATCACA	0.348																																						uc003jdm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4606-4608)GCG>GCA		hypothetical protein LOC23379							44.0	41.0	42.0					5																	5464055		1841	4094	5935	SO:0001819	synonymous_variant	23379							g.chr5:5464055G>A																												ENST00000296564.7:c.4608G>A	5.37:g.5464055G>A							p.A1536A	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	4830	+			1536					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.4608G>A	CCDS47187.1																																																																																				PASS	0.348	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			5	59	5	59	---	---	---	---
FAM134B	54463	broad.mit.edu	37	5	16477887	16477887	+	Missense_Mutation	SNP	G	G	A	rs371709887		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:16477887G>A	ENST00000306320.9	-	8	970	c.884C>T	c.(883-885)aCg>aTg	p.T295M	FAM134B_ENST00000399793.2_Missense_Mutation_p.T154M	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	295					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.T295M(1)|p.T154M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						GGCAGCAACCGTGAGGCTAAT	0.413																																						uc003jfs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(883-885)ACG>ATG		hypothetical protein LOC54463 isoform 1		G	MET/THR,MET/THR	1,3657		0,1,1828	66.0	62.0	63.0		884,461	5.9	1.0	5		63	0,8162		0,0,4081	no	missense,missense	FAM134B	NM_001034850.1,NM_019000.3	81,81	0,1,5909	AA,AG,GG		0.0,0.0273,0.0085	probably-damaging,probably-damaging	295/498,154/357	16477887	1,11819	1829	4081	5910	SO:0001583	missense	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16477887G>A	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.884C>T	5.37:g.16477887G>A	ENSP00000304642:p.Thr295Met					FAM134B_uc003jfr.2_Missense_Mutation_p.T154M	p.T295M	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN			8	922	-			295					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	c.884C>T	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014572	0.93404	2.73E-4	0.0	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.47528	0.86;0.84	5.87	5.87	0.94306	.	0.204180	0.52532	D	0.000080	T	0.59238	0.2179	L	0.36672	1.1	0.53688	D	0.999974	D;D	0.89917	1.0;0.999	P;P	0.60117	0.869;0.855	T	0.60110	-0.7327	10	0.87932	D	0	-14.8434	20.2084	0.98285	0.0:0.0:1.0:0.0	.	295;154	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	M	154;295	ENSP00000382691:T154M;ENSP00000304642:T295M	ENSP00000304642:T295M	T	-	2	0	FAM134B	16530887	1.000000	0.71417	0.965000	0.40720	0.982000	0.71751	8.543000	0.90651	2.774000	0.95407	0.650000	0.86243	ACG		PASS	0.413	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		6	198	6	198	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26906200	26906200	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:26906200C>T	ENST00000231021.4	-	5	851	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	227	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E227K(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTCTATTTTCTCTGCTCATG	0.413																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(679-681)GAA>AAA		cadherin 9, type 2 preproprotein							228.0	202.0	211.0					5																	26906200		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906200C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.679G>A	5.37:g.26906200C>T	ENSP00000231021:p.Glu227Lys					CDH9_uc010iug.2_Missense_Mutation_p.E227K	p.E227K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			5	848	-			227			Extracellular (Potential).|Cadherin 2.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.679G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	36	5.623560	0.96660	.	.	ENSG00000113100	ENST00000231021	T	0.72394	-0.65	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89476	0.6726	H	0.95884	3.735	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	D	0.92222	0.5785	9	.	.	.	.	18.5289	0.90984	0.0:1.0:0.0:0.0	.	227	Q9ULB4	CADH9_HUMAN	K	227	ENSP00000231021:E227K	.	E	-	1	0	CDH9	26941957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.802000	0.96397	0.650000	0.86243	GAA		PASS	0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		31	196	31	196	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38960533	38960533	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:38960533G>A	ENST00000357387.3	-	20	1848	c.1818C>T	c.(1816-1818)tgC>tgT	p.C606C	RICTOR_ENST00000503698.1_5'Flank|RICTOR_ENST00000296782.5_Silent_p.C606C	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.C606C(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTAAACTGGCAACCTACAA	0.398																																						uc003jlp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(1816-1818)TGC>TGT		rapamycin-insensitive companion of mTOR							102.0	109.0	106.0					5																	38960533		2203	4300	6503	SO:0001819	synonymous_variant	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38960533G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1818C>T	5.37:g.38960533G>A						RICTOR_uc003jlo.2_Silent_p.C606C|RICTOR_uc010ivf.2_Silent_p.C321C	p.C606C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			20	1842	-	all_lung(31;0.000396)		606						Silent	SNP	ENST00000357387.3	37	c.1818C>T	CCDS34148.1																																																																																				PASS	0.398	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		25	204	25	204	---	---	---	---
GZMK	3003	broad.mit.edu	37	5	54320565	54320565	+	Missense_Mutation	SNP	G	G	A	rs202051718	byFrequency	TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:54320565G>A	ENST00000231009.2	+	2	212	c.142G>A	c.(142-144)Gga>Aga	p.G48R	CTD-2313F11.1_ENST00000596909.2_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|ESM1_ENST00000598310.1_5'Flank|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000371487.3_RNA|CTD-2313F11.1_ENST00000607910.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	48	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G48R(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCAGTATGGCGGACATCACGT	0.473													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18585	0.001		0.0	False		,,,				2504	0.0					uc003jpl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)GGA>AGA		granzyme K precursor							57.0	58.0	57.0					5																	54320565		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54320565G>A	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.142G>A	5.37:g.54320565G>A	ENSP00000231009:p.Gly48Arg						p.G48R	NM_002104	NP_002095	P49863	GRAK_HUMAN			2	186	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	48			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.142G>A	CCDS3964.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.17	2.156638	0.38119	.	.	ENSG00000113088	ENST00000231009	D	0.88586	-2.4	5.11	3.3	0.37823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.458056	0.20870	N	0.084197	D	0.88665	0.6498	L	0.55481	1.735	0.09310	N	1	P	0.48016	0.904	P	0.52066	0.689	T	0.80434	-0.1384	10	0.54805	T	0.06	.	7.5145	0.27593	0.2603:0.0:0.7397:0.0	.	48	P49863	GRAK_HUMAN	R	48	ENSP00000231009:G48R	ENSP00000231009:G48R	G	+	1	0	GZMK	54356322	0.001000	0.12720	0.006000	0.13384	0.434000	0.31775	0.641000	0.24720	0.825000	0.34637	0.591000	0.81541	GGA		PASS	0.473	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		13	45	13	45	---	---	---	---
NLN	57486	broad.mit.edu	37	5	65083989	65083989	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:65083989G>C	ENST00000380985.5	+	8	1181	c.1003G>C	c.(1003-1005)Gag>Cag	p.E335Q	NLN_ENST00000502464.1_Missense_Mutation_p.E231Q	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	335						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.E335Q(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AGCAGAACGAGAGTTTATTTT	0.368																																						uc003juf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1003-1005)GAG>CAG		neurolysin precursor							92.0	99.0	97.0					5																	65083989		2202	4300	6502	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65083989G>C	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1003G>C	5.37:g.65083989G>C	ENSP00000370372:p.Glu335Gln					NLN_uc003jue.2_Missense_Mutation_p.E335Q|NLN_uc003jug.2_Missense_Mutation_p.E164Q|NLN_uc010iww.2_Missense_Mutation_p.E30Q	p.E335Q	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	8	1119	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	335					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.1003G>C	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406225	0.25378	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299	T;T;T	0.09630	2.96;2.96;2.96	6.07	5.16	0.70880	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.217413	0.51477	D	0.000100	T	0.06600	0.0169	N	0.08118	0	0.35083	D	0.763584	B;B;B	0.22983	0.003;0.003;0.078	B;B;B	0.19148	0.003;0.005;0.024	T	0.35475	-0.9787	10	0.23302	T	0.38	-21.4954	16.4548	0.84008	0.0:0.3088:0.6912:0.0	.	30;335;335	Q96K48;Q9BYT8;Q9BQD0	.;NEUL_HUMAN;.	Q	335;231;335;63	ENSP00000370372:E335Q;ENSP00000423214:E231Q;ENSP00000427417:E63Q	ENSP00000339283:E335Q	E	+	1	0	NLN	65119745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.593000	0.46180	2.885000	0.99019	0.655000	0.94253	GAG		PASS	0.368	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			29	203	29	203	---	---	---	---
RAD17	5884	broad.mit.edu	37	5	68677865	68677865	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:68677865C>T	ENST00000509734.1	+	6	1200	c.522C>T	c.(520-522)ttC>ttT	p.F174F	RAD17_ENST00000361732.2_Silent_p.F163F|RAD17_ENST00000354868.5_Silent_p.F163F|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000282891.6_Silent_p.F77F|RAD17_ENST00000345306.6_Silent_p.F163F|RAD17_ENST00000380774.3_Silent_p.F174F|RAD17_ENST00000354312.3_Silent_p.F163F|RAD17_ENST00000305138.4_Silent_p.F163F			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	174					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.F163F(1)					Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AAGATGATTTCAAGGGGATGT	0.388								Other conserved DNA damage response genes																														uc003jwo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(520-522)TTC>TTT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD17 homolog isoform 2							72.0	71.0	71.0					5																	68677865		2203	4300	6503	SO:0001819	synonymous_variant	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68677865C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.522C>T	5.37:g.68677865C>T						RAD17_uc003jwg.2_Silent_p.F163F|RAD17_uc003jwh.2_Silent_p.F163F|RAD17_uc003jwi.2_Silent_p.F163F|RAD17_uc003jwj.2_Silent_p.F163F|RAD17_uc003jwk.2_Silent_p.F163F|RAD17_uc003jwl.2_Silent_p.F163F|RAD17_uc003jwm.2_5'UTR|RAD17_uc003jwn.2_Silent_p.F77F	p.F174F	NM_133339	NP_579917	O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	4	584	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	174					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Silent	SNP	ENST00000509734.1	37	c.522C>T	CCDS4003.1																																																																																				PASS	0.388	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		11	142	11	142	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82837222	82837222	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:82837222A>C	ENST00000265077.3	+	8	8965	c.8400A>C	c.(8398-8400)gaA>gaC	p.E2800D	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1813D|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2800	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E2800D(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATGTGATGGAAGGATCCAATC	0.448																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(8398-8400)GAA>GAC		versican isoform 1 precursor							137.0	130.0	132.0					5																	82837222		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837222A>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8400A>C	5.37:g.82837222A>C	ENSP00000265077:p.Glu2800Asp					VCAN_uc003kij.3_Missense_Mutation_p.E1813D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1464D	p.E2800D	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8756	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2800			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8400A>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829152	0.71258	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.38401	1.14;1.14	6.17	-1.88	0.07713	.	0.471075	0.21539	N	0.072940	T	0.28034	0.0691	M	0.67953	2.075	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.18263	0.021;0.012	T	0.25745	-1.0123	10	0.62326	D	0.03	.	2.2594	0.04063	0.3229:0.1466:0.3887:0.1418	.	1813;2800	P13611-2;P13611	.;CSPG2_HUMAN	D	2800;1813	ENSP00000265077:E2800D;ENSP00000340062:E1813D	ENSP00000265077:E2800D	E	+	3	2	VCAN	82872978	0.002000	0.14202	0.000000	0.03702	0.760000	0.43138	0.016000	0.13377	-0.286000	0.09076	0.533000	0.62120	GAA		PASS	0.448	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		25	272	25	272	---	---	---	---
FAM174A	345757	broad.mit.edu	37	5	99871540	99871540	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:99871540A>T	ENST00000312637.4	+	1	532	c.306A>T	c.(304-306)gaA>gaT	p.E102D	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	102						integral component of membrane (GO:0016021)		p.E102D(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGGCCGGGGAAGGCTCGGTGG	0.706																																						uc003knj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GAA>GAT		family with sequence similarity 174, member A							21.0	23.0	22.0					5																	99871540		2198	4296	6494	SO:0001583	missense	345757					integral to membrane		g.chr5:99871540A>T	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.306A>T	5.37:g.99871540A>T	ENSP00000307954:p.Glu102Asp					uc003kni.2_5'Flank	p.E102D	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN			1	426	+			102			Extracellular (Potential).		A8K0H4	Missense_Mutation	SNP	ENST00000312637.4	37	c.306A>T	CCDS4090.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.180909	0.57800	.	.	ENSG00000174132	ENST00000312637	T	0.44881	0.91	3.84	1.37	0.22104	.	0.831781	0.09912	N	0.739610	T	0.34337	0.0894	L	0.51422	1.61	0.09310	N	1	P	0.38711	0.643	B	0.39805	0.31	T	0.23013	-1.0200	9	.	.	.	-3.395	3.1709	0.06551	0.6807:0.0:0.1133:0.206	.	102	Q8TBP5	F174A_HUMAN	D	102	ENSP00000307954:E102D	.	E	+	3	2	FAM174A	99899439	0.034000	0.19679	0.010000	0.14722	0.927000	0.56198	-0.215000	0.09279	0.294000	0.22547	0.455000	0.32223	GAA		PASS	0.706	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507		6	9	6	9	---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101593694	101593694	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:101593694A>G	ENST00000310954.6	-	7	1512	c.1226T>C	c.(1225-1227)aTa>aCa	p.I409T		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.I409T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTGATTTTCTATAAATTTAGG	0.289																																						uc003knm.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(1225-1227)ATA>ACA		solute carrier organic anion transporter family,							49.0	52.0	51.0					5																	101593694		2203	4292	6495	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101593694A>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1226T>C	5.37:g.101593694A>G	ENSP00000309741:p.Ile409Thr						p.I409T	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	7	1513	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	409			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.1226T>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210683	0.79240	.	.	ENSG00000173930	ENST00000310954	T	0.48201	0.82	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	M	0.91972	3.26	0.42148	D	0.991544	B	0.32893	0.389	B	0.42959	0.403	T	0.73122	-0.4082	10	0.87932	D	0	.	15.8627	0.79038	1.0:0.0:0.0:0.0	.	409	Q6ZQN7	SO4C1_HUMAN	T	409	ENSP00000309741:I409T	ENSP00000309741:I409T	I	-	2	0	SLCO4C1	101621593	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.530000	0.73816	2.151000	0.67156	0.477000	0.44152	ATA		PASS	0.289	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		11	145	11	145	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127782240	127782240	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:127782240C>G	ENST00000508053.1	-	13	1860	c.886G>C	c.(886-888)Gtg>Ctg	p.V296L	FBN2_ENST00000508989.1_Missense_Mutation_p.V263L|FBN2_ENST00000262464.4_Missense_Mutation_p.V296L			P35556	FBN2_HUMAN	fibrillin 2	296	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V296L(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAAGAGCCCACTGTATTGATA	0.433																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(886-888)GTG>CTG		fibrillin 2 precursor							145.0	131.0	136.0					5																	127782240		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127782240C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.886G>C	5.37:g.127782240C>G	ENSP00000424571:p.Val296Leu					FBN2_uc003kuv.2_Missense_Mutation_p.V263L|FBN2_uc003kuw.3_Missense_Mutation_p.V296L|FBN2_uc003kux.1_Missense_Mutation_p.V296L	p.V296L	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	7	1325	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	296			EGF-like 4; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.886G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048542	0.55110	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	4.81	4.81	0.61882	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.332636	0.23953	N	0.042940	D	0.86372	0.5917	N	0.12920	0.275	0.36378	D	0.861724	B;B;B;B	0.21225	0.015;0.053;0.002;0.002	B;B;B;B	0.31016	0.015;0.123;0.01;0.007	D	0.83558	0.0105	10	0.23302	T	0.38	.	17.5047	0.87741	0.0:1.0:0.0:0.0	.	263;296;263;296	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	L	296;296;263;296	ENSP00000262464:V296L;ENSP00000424571:V296L;ENSP00000425596:V263L;ENSP00000424753:V296L	ENSP00000262464:V296L	V	-	1	0	FBN2	127810139	0.997000	0.39634	1.000000	0.80357	0.962000	0.63368	3.671000	0.54576	2.613000	0.88420	0.650000	0.86243	GTG		PASS	0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		35	170	35	170	---	---	---	---
MATR3	9782	broad.mit.edu	37	5	138658546	138658546	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:138658546G>T	ENST00000394805.3	+	12	2373	c.2038G>T	c.(2038-2040)Gat>Tat	p.D680Y	MATR3_ENST00000502499.1_Missense_Mutation_p.D342Y|MATR3_ENST00000509990.1_Missense_Mutation_p.D680Y|MATR3_ENST00000503811.1_Missense_Mutation_p.D392Y|MATR3_ENST00000394800.2_Missense_Mutation_p.D680Y|MATR3_ENST00000510056.1_Missense_Mutation_p.D680Y|MATR3_ENST00000502929.1_Missense_Mutation_p.D680Y|MATR3_ENST00000361059.2_Missense_Mutation_p.D680Y|MATR3_ENST00000504203.1_Missense_Mutation_p.D342Y	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	680					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.D680Y(1)|p.D68Y(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGACGAGACCGATCTTGCTAA	0.428																																						uc003ldu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2038-2040)GAT>TAT		matrin 3							76.0	80.0	78.0					5																	138658546		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138658546G>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2038G>T	5.37:g.138658546G>T	ENSP00000378284:p.Asp680Tyr					MATR3_uc010jfb.2_Missense_Mutation_p.D680Y|MATR3_uc003ldt.2_Missense_Mutation_p.D342Y|MATR3_uc003ldw.2_Missense_Mutation_p.D680Y|MATR3_uc003ldx.2_Missense_Mutation_p.D680Y|MATR3_uc010jfc.2_Missense_Mutation_p.D680Y|MATR3_uc003ldy.2_Missense_Mutation_p.D357Y|MATR3_uc011czb.1_Missense_Mutation_p.D392Y|MATR3_uc003ldz.2_Missense_Mutation_p.D680Y|MATR3_uc003lea.2_Missense_Mutation_p.D680Y|MATR3_uc003leb.2_Missense_Mutation_p.D342Y|MATR3_uc003lec.2_Missense_Mutation_p.D357Y	p.D680Y	NM_199189	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		15	2465	+			680					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.2038G>T	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280160	0.80692	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811;ENST00000337359	T;T;T;T;T;T;T;T;T	0.79749	-1.11;-1.11;-1.11;-1.3;-1.3;-1.11;-1.11;-1.3;-1.3	5.39	5.39	0.77823	.	0.155351	0.56097	D	0.000022	D	0.84871	0.5568	L	0.27053	0.805	0.51012	D	0.999906	D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;1.0;0.998	D;P;D;P;D;P	0.87578	0.995;0.907;0.967;0.907;0.998;0.907	D	0.86896	0.2051	10	0.87932	D	0	-16.2325	19.1841	0.93635	0.0:0.0:1.0:0.0	.	392;680;392;680;680;680	B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243	.;.;.;.;.;MATR3_HUMAN	Y	680;680;342;680;680;680;342;680;392;68	ENSP00000423533:D680Y;ENSP00000354346:D680Y;ENSP00000421218:D342Y;ENSP00000422319:D680Y;ENSP00000378279:D680Y;ENSP00000378284:D680Y;ENSP00000426030:D342Y;ENSP00000426743:D680Y;ENSP00000423587:D392Y	ENSP00000338208:D68Y	D	+	1	0	MATR3	138686445	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	6.539000	0.73856	2.537000	0.85549	0.655000	0.94253	GAT		PASS	0.428	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		13	82	13	82	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193192	139193192	+	Missense_Mutation	SNP	C	C	T	rs147042685	byFrequency	TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:139193192C>T	ENST00000274710.3	+	3	875	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	224					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.R224C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCTGCGGCGCTCCATCTC	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		14755	0.0		0.0	False		,,,				2504	0.0					uc003leu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(670-672)CGC>TGC		pleckstrin and Sec7 domain containing 2		C	CYS/ARG	4,4362		0,4,2179	15.0	21.0	19.0		670	2.7	1.0	5	dbSNP_134	19	0,8572		0,0,4286	yes	missense	PSD2	NM_032289.2	180	0,4,6465	TT,TC,CC		0.0,0.0916,0.0309	benign	224/772	139193192	4,12934	2183	4286	6469	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193192C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.670C>T	5.37:g.139193192C>T	ENSP00000274710:p.Arg224Cys						p.R224C	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	875	+			224					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.670C>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913180	0.33815	9.16E-4	0.0	ENSG00000146005	ENST00000274710	T	0.12984	2.63	4.52	2.72	0.32119	.	0.579153	0.16695	N	0.203379	T	0.11281	0.0275	L	0.36672	1.1	0.37414	D	0.913356	B	0.06786	0.001	B	0.04013	0.001	T	0.07673	-1.0760	10	0.56958	D	0.05	.	8.793	0.34863	0.0:0.8231:0.0:0.1769	.	224	Q9BQI7	PSD2_HUMAN	C	224	ENSP00000274710:R224C	ENSP00000274710:R224C	R	+	1	0	PSD2	139173376	0.965000	0.33210	1.000000	0.80357	0.930000	0.56654	0.365000	0.20348	0.454000	0.26884	0.462000	0.41574	CGC		PASS	0.662	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		4	33	4	33	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481580	140481580	+	Silent	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:140481580C>A	ENST00000231130.2	+	1	1347	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P449P(2)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGCCCCCGCCTTCACCC	0.562																																						uc003lio.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)|pancreas(1)	2						c.(1345-1347)CCC>CCA		protocadherin beta 3 precursor							98.0	93.0	95.0					5																	140481580		2203	4299	6502	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481580C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1347C>A	5.37:g.140481580C>A						uc003lin.2_Intron	p.P449P	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1347	+			449			Extracellular (Potential).|Cadherin 4.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.1347C>A	CCDS4245.1																																																																																				PASS	0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		51	142	51	142	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515035	140515035	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:140515035A>G	ENST00000231134.5	+	1	236	c.19A>G	c.(19-21)Aaa>Gaa	p.K7E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	7					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.K7E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGCTAGCAAAAACGCCACA	0.463																																						uc003liq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(19-21)AAA>GAA		protocadherin beta 5 precursor							93.0	82.0	86.0					5																	140515035		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515035A>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.19A>G	5.37:g.140515035A>G	ENSP00000231134:p.Lys7Glu						p.K7E	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	236	+			7					Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.19A>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656225	0.67586	.	.	ENSG00000113209	ENST00000231134	T	0.51071	0.72	5.38	2.99	0.34606	.	.	.	.	.	T	0.36963	0.0986	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.25813	-1.0121	9	0.39692	T	0.17	.	7.6902	0.28563	0.7595:0.0:0.2405:0.0	.	7	Q9Y5E4	PCDB5_HUMAN	E	7	ENSP00000231134:K7E	ENSP00000231134:K7E	K	+	1	0	PCDHB5	140495219	0.083000	0.21467	0.838000	0.33150	0.975000	0.68041	2.324000	0.43831	0.446000	0.26666	0.459000	0.35465	AAA		PASS	0.463	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		8	132	8	132	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140778610	140778610	+	Intron	SNP	G	G	C	rs545668357		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:140778610G>C	ENST00000576222.1	+	1	2546				PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGGATTTTGAAGAGACCAA	0.373																																						uc003lkf.1																			0					0						c.(916-918)GAA>CAA		protocadherin gamma subfamily B, 5 isoform 1							95.0	98.0	97.0					5																	140778610		1854	4106	5960	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778610G>C	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26234G>C	5.37:g.140778610G>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_uc011daw.1_Missense_Mutation_p.E306Q	p.E306Q	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	916	+			306			Extracellular (Potential).|Cadherin 3.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.916G>C	CCDS58980.1																																																																																				PASS	0.373	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		24	241	24	241	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145557152	145557152	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr5:145557152C>T	ENST00000394434.2	-	2	249	c.83G>A	c.(82-84)aGa>aAa	p.R28K	LARS_ENST00000545646.1_Missense_Mutation_p.R28K|LARS_ENST00000274562.9_Missense_Mutation_p.R28K|LARS_ENST00000510191.1_Intron|LARS_ENST00000511505.1_5'UTR	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	28					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.R28K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTCAAACACTCTCTCAGTATC	0.328																																						uc003lnx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)AGA>AAA		leucyl-tRNA synthetase	L-Leucine(DB00149)						140.0	132.0	135.0					5																	145557152		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145557152C>T	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.83G>A	5.37:g.145557152C>T	ENSP00000377954:p.Arg28Lys					LARS_uc011dbq.1_Missense_Mutation_p.R28K|LARS_uc011dbr.1_Intron|LARS_uc011dbs.1_Missense_Mutation_p.R28K	p.R28K	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	321	-			28					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.83G>A	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	6.402	0.442300	0.12164	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000274562;ENST00000360930	T;T;T	0.75154	1.43;1.43;-0.91	5.6	4.45	0.53987	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.100520	0.64402	N	0.000004	T	0.34395	0.0896	N	0.00453	-1.485	0.28347	N	0.92108	B;B;B	0.16802	0.0;0.019;0.0	B;B;B	0.20955	0.0;0.032;0.002	T	0.41963	-0.9479	10	0.02654	T	1	-1.5913	7.7019	0.28627	0.0:0.2177:0.0:0.7823	.	28;28;28	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	K	28	ENSP00000377954:R28K;ENSP00000437791:R28K;ENSP00000274562:R28K	ENSP00000274562:R28K	R	-	2	0	LARS	145537345	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.529000	0.45632	0.952000	0.37798	-0.302000	0.09304	AGA		PASS	0.328	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		13	154	13	154	---	---	---	---
GFOD1	54438	broad.mit.edu	37	6	13365729	13365729	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:13365729A>G	ENST00000379287.3	-	2	1083	c.419T>C	c.(418-420)gTg>gCg	p.V140A	GFOD1_ENST00000379284.1_Missense_Mutation_p.V37A	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	140						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.V140A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CGGCTCGCCCACGTAGCCCTC	0.652																																						uc003nat.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(418-420)GTG>GCG		glucose-fructose oxidoreductase domain							47.0	43.0	45.0					6																	13365729		2203	4300	6503	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365729A>G	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.419T>C	6.37:g.13365729A>G	ENSP00000368589:p.Val140Ala					GFOD1_uc003nas.1_Missense_Mutation_p.V37A	p.V140A	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1084	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	140					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.419T>C	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506776	0.64410	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.44083	0.93;0.93	5.15	5.15	0.70609	Oxidoreductase, C-terminal (1);	0.123741	0.53938	D	0.000042	T	0.30541	0.0768	L	0.47716	1.5	0.58432	D	0.999997	B	0.26195	0.144	B	0.36092	0.217	T	0.33369	-0.9871	10	0.87932	D	0	-17.7048	14.1586	0.65432	1.0:0.0:0.0:0.0	.	140	Q9NXC2	GFOD1_HUMAN	A	140;37	ENSP00000368589:V140A;ENSP00000368586:V37A	ENSP00000368586:V37A	V	-	2	0	GFOD1	13473708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.331000	0.96430	1.926000	0.55796	0.528000	0.53228	GTG		PASS	0.652	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		10	20	10	20	---	---	---	---
HIST1H2BC	8347	broad.mit.edu	37	6	26123851	26123851	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:26123851C>A	ENST00000314332.5	-	1	287	c.282G>T	c.(280-282)gaG>gaT	p.E94D	HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E94D			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	94					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E94D(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CCGTCTGGATCTCCCTGGAGG	0.597																																						uc003ngk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(280-282)GAG>GAT		histone cluster 1, H2bc							78.0	83.0	81.0					6																	26123851		2203	4300	6503	SO:0001583	missense	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26123851C>A	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.282G>T	6.37:g.26123851C>A	ENSP00000321744:p.Glu94Asp					HIST1H2BC_uc003ngl.2_Missense_Mutation_p.E94D|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	p.E94D	NM_003526	NP_003517	P62807	H2B1C_HUMAN			1	304	-			94					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	c.282G>T	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	26.5	4.745176	0.89663	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.44881	0.91;0.91	5.61	5.61	0.85477	Histone-fold (2);Histone core (1);	0.000000	0.40144	U	0.001170	T	0.36248	0.0960	.	.	.	0.42393	D	0.992531	B	0.21520	0.057	B	0.35039	0.194	T	0.25537	-1.0129	9	0.66056	D	0.02	.	18.9929	0.92801	0.0:1.0:0.0:0.0	.	94	P62807	H2B1C_HUMAN	D	94	ENSP00000321744:E94D;ENSP00000380180:E94D	ENSP00000321744:E94D	E	-	3	2	HIST1H2BC	26231830	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.918000	0.63376	2.799000	0.96334	0.650000	0.86243	GAG		PASS	0.597	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		49	108	49	108	---	---	---	---
OR10C1	442194	broad.mit.edu	37	6	29408320	29408320	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:29408320C>A	ENST00000444197.2	+	1	1238	c.528C>A	c.(526-528)ttC>ttA	p.F176L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F176L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCCGCAGTTCTTCTGTGAGA	0.592																																						uc011dlp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)TTC>TTA		olfactory receptor, family 10, subfamily C,							135.0	146.0	142.0					6																	29408320		1509	2708	4217	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408320C>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.528C>A	6.37:g.29408320C>A	ENSP00000419119:p.Phe176Leu					OR11A1_uc010jrh.1_Intron	p.F176L	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	528	+			176			Extracellular (Potential).		Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.528C>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593879	0.46214	.	.	ENSG00000206474	ENST00000444197	T	0.00346	8.01	3.65	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000943	T	0.00300	0.0009	M	0.81614	2.55	0.32264	N	0.56973	B	0.27882	0.192	P	0.47015	0.534	T	0.08680	-1.0710	10	0.54805	T	0.06	.	11.1763	0.48601	0.0:0.9042:0.0:0.0958	.	176	Q96KK4	O10C1_HUMAN	L	176	ENSP00000419119:F176L	ENSP00000419119:F176L	F	+	3	2	OR10C1	29516299	0.015000	0.18098	0.992000	0.48379	0.673000	0.39480	0.834000	0.27518	1.876000	0.54355	0.603000	0.83216	TTC		PASS	0.592	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			108	162	108	162	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32026137	32026137	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:32026137C>T	ENST00000375244.3	-	22	7724	c.7523G>A	c.(7522-7524)aGc>aAc	p.S2508N	TNXB_ENST00000375247.2_Missense_Mutation_p.S2508N			P22105	TENX_HUMAN	tenascin XB	2568	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.S2595N(1)|p.S2508N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTCTGTAGGGCTGGGGGTCTC	0.587																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(7522-7524)AGC>AAC		tenascin XB isoform 1 precursor							20.0	23.0	22.0					6																	32026137		1182	2522	3704	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32026137C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7523G>A	6.37:g.32026137C>T	ENSP00000364393:p.Ser2508Asn						p.S2508N	NM_019105	NP_061978	P22105	TENX_HUMAN			22	7725	-			2568					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7523G>A		.	.	.	.	.	.	.	.	.	.	C	7.641	0.680904	0.14907	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.60299	0.29;0.2	3.93	-0.901	0.10540	.	1.293110	0.05460	N	0.551061	T	0.16642	0.0400	L	0.27053	0.805	0.20563	N	0.999881	B	0.26547	0.152	B	0.24006	0.05	T	0.09997	-1.0649	10	0.16420	T	0.52	.	4.4926	0.11820	0.1252:0.3773:0.401:0.0965	.	2508	P22105-3	.	N	2508	ENSP00000364393:S2508N;ENSP00000364396:S2508N	ENSP00000364393:S2508N	S	-	2	0	TNXB	32134115	0.666000	0.27475	0.994000	0.49952	0.546000	0.35178	-0.139000	0.10358	-0.063000	0.13065	0.650000	0.86243	AGC		PASS	0.587	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		6	33	6	33	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43400184	43400184	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:43400184C>A	ENST00000372530.4	+	3	681	c.466C>A	c.(466-468)Cag>Aag	p.Q156K	ABCC10_ENST00000244533.3_Missense_Mutation_p.Q113K|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	156					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q113K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTGGCATTGCCAGCGAGGCAC	0.642																																						uc003ouy.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(466-468)CAG>AAG		ATP-binding cassette, sub-family C, member 10							65.0	64.0	64.0					6																	43400184		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400184C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.466C>A	6.37:g.43400184C>A	ENSP00000361608:p.Gln156Lys					ABCC10_uc003ouz.1_Missense_Mutation_p.Q113K	p.Q156K	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	681	+	all_lung(25;0.00536)		156					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.466C>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124599	0.56613	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.47528	0.84;0.84	5.94	5.94	0.96194	.	0.307999	0.36591	N	0.002512	T	0.30008	0.0751	L	0.34521	1.04	0.43110	D	0.99481	D;D	0.56287	0.975;0.958	P;B	0.48815	0.591;0.386	T	0.13072	-1.0523	10	0.02654	T	1	-27.3367	20.3633	0.98874	0.0:1.0:0.0:0.0	.	113;156	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	K	156;113	ENSP00000361608:Q156K;ENSP00000244533:Q113K	ENSP00000244533:Q113K	Q	+	1	0	ABCC10	43508162	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	2.991000	0.49409	2.826000	0.97356	0.561000	0.74099	CAG		PASS	0.642	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		9	310	9	310	---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46977837	46977837	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:46977837T>C	ENST00000371253.2	-	11	1549	c.1334A>G	c.(1333-1335)tAc>tGc	p.Y445C	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.Y248C	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	445					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.Y445C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CTGATAGCTGTAACCCCTTTT	0.443																																						uc003oyt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1333-1335)TAC>TGC		G-protein coupled receptor 110 isoform 1							103.0	95.0	98.0					6																	46977837		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977837T>C	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1334A>G	6.37:g.46977837T>C	ENSP00000360299:p.Tyr445Cys					GPR110_uc011dwl.1_Missense_Mutation_p.Y133C	p.Y445C	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	1533	-			445			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1334A>G	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.561113	0.45590	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.35973	1.29;1.28	5.35	4.1	0.47936	.	0.128508	0.36002	N	0.002852	T	0.43055	0.1230	M	0.73962	2.25	0.09310	N	0.999999	D	0.89917	1.0	D	0.68192	0.956	T	0.22871	-1.0204	10	0.62326	D	0.03	-19.9624	8.7682	0.34715	0.3333:0.0:0.0:0.6667	.	445	Q5T601	GP110_HUMAN	C	445;445;248	ENSP00000360299:Y445C;ENSP00000283297:Y248C	ENSP00000283297:Y248C	Y	-	2	0	GPR110	47085796	1.000000	0.71417	0.031000	0.17742	0.024000	0.10985	2.037000	0.41174	2.150000	0.67090	0.454000	0.30748	TAC		PASS	0.443	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		53	164	53	164	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55113587	55113587	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:55113587C>G	ENST00000370862.3	+	2	710	c.374C>G	c.(373-375)tCc>tGc	p.S125C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	125					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.S125C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTGGACAGTCCCTTTGCAAA	0.423																																						uc003pcl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(373-375)TCC>TGC		orexin receptor 2							251.0	234.0	240.0					6																	55113587		2203	4299	6502	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113587C>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.374C>G	6.37:g.55113587C>G	ENSP00000359899:p.Ser125Cys					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.S60C	p.S125C	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	689	+	Lung NSC(77;0.107)|Renal(3;0.122)		125			Extracellular (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.374C>G	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177419	0.57692	.	.	ENSG00000137252	ENST00000370862	T	0.72167	-0.63	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.230889	0.43416	D	0.000566	T	0.64821	0.2633	L	0.41492	1.28	0.32294	N	0.565959	P;P	0.40931	0.733;0.733	P;P	0.56343	0.796;0.796	T	0.64774	-0.6328	10	0.39692	T	0.17	.	11.1333	0.48360	0.1407:0.723:0.1364:0.0	.	125;125	Q548Y0;O43614	.;OX2R_HUMAN	C	125	ENSP00000359899:S125C	ENSP00000359899:S125C	S	+	2	0	HCRTR2	55221546	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.695000	0.54749	2.282000	0.76494	0.555000	0.69702	TCC		PASS	0.423	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			16	441	16	441	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55198628	55198628	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:55198628C>A	ENST00000340465.2	+	3	288	c.202C>A	c.(202-204)Ctg>Atg	p.L68M		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	68					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L68M(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATACTGTAACCTGAGTATCCA	0.348																																						uc003pcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(202-204)CTG>ATG		GDNF family receptor alpha like precursor							136.0	136.0	136.0					6																	55198628		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55198628C>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.202C>A	6.37:g.55198628C>A	ENSP00000343636:p.Leu68Met						p.L68M	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	288	+	Lung NSC(77;0.0875)|Renal(3;0.122)		68			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.202C>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526494	0.27299	.	.	ENSG00000187871	ENST00000340465	T	0.32753	1.44	5.39	-2.59	0.06209	GDNF/GAS1 (1);	1.830390	0.02760	N	0.118443	T	0.17023	0.0409	L	0.48642	1.525	0.09310	N	1	D	0.55800	0.973	P	0.54431	0.752	T	0.06320	-1.0833	10	0.37606	T	0.19	-29.0283	2.33	0.04233	0.1197:0.3079:0.3513:0.2211	.	68	Q6UXV0	GFRAL_HUMAN	M	68	ENSP00000343636:L68M	ENSP00000343636:L68M	L	+	1	2	GFRAL	55306587	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.329000	0.07935	-0.596000	0.05821	-0.182000	0.12963	CTG		PASS	0.348	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		31	243	31	243	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69653876	69653876	+	Silent	SNP	T	T	G	rs376951955		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:69653876T>G	ENST00000370598.1	+	6	2006	c.1185T>G	c.(1183-1185)gcT>gcG	p.A395A		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	395	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A395A(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTAATATTGCTCTTTGCCCAG	0.418																																						uc003pev.3																			1	Substitution - coding silent(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1183-1185)GCT>GCG		brain-specific angiogenesis inhibitor 3							162.0	145.0	151.0					6																	69653876		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69653876T>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1185T>G	6.37:g.69653876T>G						BAI3_uc010kak.2_Silent_p.A395A	p.A395A	NM_001704	NP_001695	O60242	BAI3_HUMAN			6	1633	+		all_lung(197;0.212)	395			Extracellular (Potential).|TSP type-1 2.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.1185T>G	CCDS4968.1																																																																																				PASS	0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			17	163	17	163	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70070787	70070787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:70070787C>T	ENST00000370598.1	+	29	4443	c.3622C>T	c.(3622-3624)Cga>Tga	p.R1208*	BAI3_ENST00000546190.1_Nonsense_Mutation_p.R172*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.R414*	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1208					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1208*(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGTCCTTGCCGAGCAGCCAC	0.358																																						uc003pev.3																			1	Substitution - Nonsense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3622-3624)CGA>TGA		brain-specific angiogenesis inhibitor 3							82.0	85.0	84.0					6																	70070787		2203	4298	6501	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70070787C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3622C>T	6.37:g.70070787C>T	ENSP00000359630:p.Arg1208*					BAI3_uc010kak.2_Nonsense_Mutation_p.R1208*|BAI3_uc011dxx.1_Nonsense_Mutation_p.R414*	p.R1208*	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4070	+		all_lung(197;0.212)	1208			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.3622C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043059	0.93685	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	.	.	.	5.61	2.59	0.31030	.	0.059612	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4245	0.67204	0.5546:0.4454:0.0:0.0	.	.	.	.	X	1208;414;172	.	ENSP00000238918:R414X	R	+	1	2	BAI3	70127508	0.998000	0.40836	1.000000	0.80357	0.905000	0.53344	0.988000	0.29616	0.660000	0.30964	0.591000	0.81541	CGA		PASS	0.358	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			28	112	28	112	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87970021	87970021	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:87970021C>G	ENST00000369577.3	+	8	6717	c.6674C>G	c.(6673-6675)tCt>tGt	p.S2225C	ZNF292_ENST00000339907.4_Missense_Mutation_p.S2220C	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2225						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S2225C(1)|p.S2080C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAGTGTAAATCTTCATTTACT	0.378																																						uc003plm.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(6673-6675)TCT>TGT		zinc finger protein 292							123.0	123.0	123.0					6																	87970021		1894	4110	6004	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970021C>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6674C>G	6.37:g.87970021C>G	ENSP00000358590:p.Ser2225Cys						p.S2225C	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6715	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2225			C2H2-type 13.		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6674C>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184621	0.57909	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.50548	3.09;3.1;0.74	5.3	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.318663	0.34628	N	0.003810	T	0.46541	0.1398	L	0.59436	1.845	0.24151	N	0.995693	D	0.69078	0.997	P	0.57371	0.819	T	0.45454	-0.9260	10	0.72032	D	0.01	.	14.348	0.66680	0.0:0.9272:0.0:0.0728	.	2225	O60281	ZN292_HUMAN	C	2225;2220;143	ENSP00000358590:S2225C;ENSP00000342847:S2220C;ENSP00000428857:S143C	ENSP00000342847:S2220C	S	+	2	0	ZNF292	88026740	0.584000	0.26766	1.000000	0.80357	0.980000	0.70556	1.293000	0.33353	1.198000	0.43158	0.591000	0.81541	TCT		PASS	0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		29	227	29	227	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88138405	88138405	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:88138405G>T	ENST00000507897.1	+	9	1105	c.1022G>T	c.(1021-1023)gGt>gTt	p.G341V	C6ORF165_ENST00000369562.4_Missense_Mutation_p.G341V			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	341								p.G341V(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ATTGTGGTTGGTGTCCTCAGT	0.408																																						uc003plv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1021-1023)GGT>GTT		hypothetical protein LOC154313 isoform 1							207.0	188.0	194.0					6																	88138405		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88138405G>T	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1022G>T	6.37:g.88138405G>T	ENSP00000426769:p.Gly341Val					C6orf165_uc003plw.2_Missense_Mutation_p.G153V|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.G341V	p.G341V	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	9	1114	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	341					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1022G>T	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313446	0.23908	.	.	ENSG00000213204	ENST00000369562	T	0.28069	1.63	5.18	5.18	0.71444	.	0.119302	0.85682	D	0.000000	T	0.10508	0.0257	N	0.08118	0	0.44762	D	0.997766	B	0.30068	0.267	B	0.33620	0.167	T	0.11542	-1.0583	10	0.66056	D	0.02	.	13.9929	0.64378	0.0751:0.0:0.9249:0.0	.	341	Q8IYR0	CF165_HUMAN	V	341	ENSP00000358575:G341V	ENSP00000358575:G341V	G	+	2	0	C6orf165	88195124	1.000000	0.71417	0.971000	0.41717	0.014000	0.08584	3.391000	0.52530	2.379000	0.81126	0.650000	0.86243	GGT		PASS	0.408	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		57	263	57	263	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96034548	96034548	+	Missense_Mutation	SNP	G	G	T	rs144076192		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:96034548G>T	ENST00000358812.4	+	2	367	c.233G>T	c.(232-234)aGt>aTt	p.S78I	MANEA_ENST00000369293.1_Missense_Mutation_p.S78I	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	78	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.S78I(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AATTTAAAAAGTGTTGAAATC	0.328																																						uc003poo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(232-234)AGT>ATT		mannosidase, endo-alpha							90.0	93.0	92.0					6																	96034548		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96034548G>T	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.233G>T	6.37:g.96034548G>T	ENSP00000351669:p.Ser78Ile					MANEA_uc003pon.2_Missense_Mutation_p.S78I	p.S78I	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	2	373	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	78			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.233G>T	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425272	0.25639	.	.	ENSG00000172469	ENST00000358812;ENST00000369293;ENST00000542500	.	.	.	5.82	-2.43	0.06522	.	0.960955	0.08802	N	0.891679	T	0.09468	0.0233	L	0.31294	0.92	0.09310	N	1	B;B	0.15141	0.0;0.012	B;B	0.12156	0.003;0.007	T	0.31194	-0.9952	9	0.39692	T	0.17	-1.8381	2.1807	0.03874	0.2836:0.3109:0.3001:0.1054	.	78;78	Q5SRI9;Q8WWX4	MANEA_HUMAN;.	I	78	.	ENSP00000351669:S78I	S	+	2	0	MANEA	96141269	0.000000	0.05858	0.092000	0.20876	0.992000	0.81027	-0.046000	0.11983	-0.162000	0.10964	0.650000	0.86243	AGT		PASS	0.328	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		60	183	60	183	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102307216	102307216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:102307216C>T	ENST00000421544.1	+	10	1862	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	GRIK2_ENST00000369138.1_Nonsense_Mutation_p.R458*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.R458*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.R458*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.R409*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.R458*	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	458					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R458*(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGGTAATGATCGATTTGAAGG	0.363																																						uc003pqp.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1372-1374)CGA>TGA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						136.0	128.0	131.0					6																	102307216		2203	4300	6503	SO:0001587	stop_gained	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102307216C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1372C>T	6.37:g.102307216C>T	ENSP00000397026:p.Arg458*					GRIK2_uc003pqn.2_Nonsense_Mutation_p.R458*|GRIK2_uc003pqo.3_Nonsense_Mutation_p.R458*|GRIK2_uc010kcw.2_Nonsense_Mutation_p.R458*	p.R458*	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	10	1621	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	458			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Nonsense_Mutation	SNP	ENST00000421544.1	37	c.1372C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	41	8.702679	0.98920	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	.	.	.	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2603	0.54647	0.2968:0.7032:0.0:0.0	.	.	.	.	X	458;458;458;458;458;458;409;420;171;57	.	ENSP00000313276:R458X	R	+	1	2	GRIK2	102413909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.250000	0.43178	2.401000	0.81631	0.591000	0.81541	CGA		PASS	0.363	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			8	119	8	119	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117241518	117241518	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:117241518G>A	ENST00000332958.2	+	12	1244	c.1228G>A	c.(1228-1230)Gtg>Atg	p.V410M		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	410					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.V410M(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TAATTCTATGGTGTCTGATAT	0.408																																						uc003pxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1228-1230)GTG>ATG		regulatory factor X, 6							220.0	198.0	206.0					6																	117241518		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117241518G>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1228G>A	6.37:g.117241518G>A	ENSP00000332208:p.Val410Met						p.V410M	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			12	1291	+			410					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1228G>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062509	0.55432	.	.	ENSG00000185002	ENST00000332958	T	0.58060	0.36	5.62	4.75	0.60458	.	0.058970	0.64402	D	0.000002	T	0.27489	0.0675	L	0.40543	1.245	0.48901	D	0.999727	P	0.39665	0.682	B	0.36134	0.218	T	0.18272	-1.0342	10	0.54805	T	0.06	-12.2897	10.6025	0.45375	0.1464:0.0:0.8536:0.0	.	410	Q8HWS3	RFX6_HUMAN	M	410	ENSP00000332208:V410M	ENSP00000332208:V410M	V	+	1	0	RFX6	117348211	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.639000	0.61361	1.352000	0.45808	0.655000	0.94253	GTG		PASS	0.408	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		54	368	54	368	---	---	---	---
MYB	4602	broad.mit.edu	37	6	135507145	135507145	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:135507145G>T	ENST00000367814.4	+	2	314	c.128G>T	c.(127-129)tGg>tTg	p.W43L	MYB_ENST00000525369.1_Missense_Mutation_p.W43L|MYB_ENST00000527615.1_Missense_Mutation_p.W43L|MYB_ENST00000533624.1_Missense_Mutation_p.W43L|MYB_ENST00000420123.2_Missense_Mutation_p.W43L|MYB_ENST00000534121.1_Missense_Mutation_p.W43L|MYB_ENST00000316528.8_Missense_Mutation_p.W43L|MYB_ENST00000528774.1_Missense_Mutation_p.W43L|MYB_ENST00000442647.2_Missense_Mutation_p.W43L|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000341911.5_Missense_Mutation_p.W43L|MYB_ENST00000534044.1_Missense_Mutation_p.W43L	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	43	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.W43L(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AAAACAAGGTGGACCCGGGAA	0.403			T	NFIB	adenoid cystic carcinoma																																	uc003qfc.2				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(127-129)TGG>TTG		v-myb myeloblastosis viral oncogene homolog							97.0	89.0	92.0					6																	135507145		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135507145G>T		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.128G>T	6.37:g.135507145G>T	ENSP00000356788:p.Trp43Leu					MYB_uc003qfh.2_Missense_Mutation_p.W43L|MYB_uc003qfi.2_Missense_Mutation_p.W43L|MYB_uc010kgi.2_Missense_Mutation_p.W43L|MYB_uc003qfq.2_Missense_Mutation_p.W43L|MYB_uc010kgj.2_Missense_Mutation_p.W43L|MYB_uc003qfo.2_Missense_Mutation_p.W43L|MYB_uc003qfu.2_Missense_Mutation_p.W43L|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_5'UTR|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.W43L|MYB_uc003qgd.1_5'Flank	p.W43L	NM_005375	NP_005366	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	2	327	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	43			HTH myb-type 1.		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.128G>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774759	0.90108	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.67698	0.98;0.63;0.48;0.66;-0.28;0.37;0.97;1.05;0.15;0.74	5.14	5.14	0.70334	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.88206	0.6374	H	0.97829	4.085	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;0.999;0.985;1.0;0.999	D	0.92418	0.5943	10	0.87932	D	0	-5.2855	18.9715	0.92716	0.0:0.0:1.0:0.0	.	43;43;43;43;43;43;43;43;43	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	L	43	ENSP00000339992:W43L;ENSP00000410825:W43L;ENSP00000326328:W43L;ENSP00000356788:W43L;ENSP00000433227:W43L;ENSP00000435938:W43L;ENSP00000434723:W43L;ENSP00000432851:W43L;ENSP00000435055:W43L;ENSP00000436605:W43L	ENSP00000237302:W43L	W	+	2	0	MYB	135548838	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.561000	0.86390	0.563000	0.77884	TGG		PASS	0.403	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			4	146	4	146	---	---	---	---
TXLNB	167838	broad.mit.edu	37	6	139581568	139581568	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:139581568C>T	ENST00000358430.3	-	6	1121	c.889G>A	c.(889-891)Gac>Aac	p.D297N		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	297						cytoplasm (GO:0005737)		p.D297N(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AATATTTTGTCCAGATGCTAA	0.388																																						uc011eds.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(889-891)GAC>AAC		taxilin beta							73.0	71.0	72.0					6																	139581568		2202	4300	6502	SO:0001583	missense	167838					cytoplasm		g.chr6:139581568C>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.889G>A	6.37:g.139581568C>T	ENSP00000351206:p.Asp297Asn						p.D297N	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	6	1054	-			297			Potential.		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.889G>A	CCDS34545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.230258|5.230258	0.95207|0.95207	.|.	.|.	ENSG00000164440|ENSG00000164440	ENST00000358430|ENST00000367652	T|.	0.78364|.	-1.17|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.131906|.	0.64402|.	D|.	0.000002|.	T|T	0.60353|0.60353	0.2262|0.2262	L|L	0.45352|0.45352	1.415|1.415	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.56426|0.56426	-0.7981|-0.7981	9|5	.|.	.|.	.|.	-27.2414|-27.2414	19.3786|19.3786	0.94521|0.94521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	297|.	Q8N3L3|.	TXLNB_HUMAN|.	N|E	297|9	ENSP00000351206:D297N|.	.|.	D|G	-|-	1|2	0|0	TXLNB|TXLNB	139623261|139623261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.060000|6.060000	0.71141|0.71141	2.589000|2.589000	0.87451|0.87451	0.591000|0.591000	0.81541|0.81541	GAC|GGA		PASS	0.388	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		16	72	16	72	---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148840988	148840988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:148840988G>T	ENST00000367467.3	+	10	1643	c.1168G>T	c.(1168-1170)Gag>Tag	p.E390*		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	390					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.E390*(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTCCCTCACCGAGGGGGAGAT	0.572																																						uc003qme.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1168-1170)GAG>TAG		SAM and SH3 domain containing 1							15.0	17.0	16.0					6																	148840988		2201	4298	6499	SO:0001587	stop_gained	23328						protein binding	g.chr6:148840988G>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1168G>T	6.37:g.148840988G>T	ENSP00000356437:p.Glu390*					SASH1_uc011eeb.1_Nonsense_Mutation_p.E151*	p.E390*	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	10	1643	+		Ovarian(120;0.0169)	390					Q5TGN5|Q8TAI0|Q9H7R7	Nonsense_Mutation	SNP	ENST00000367467.3	37	c.1168G>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	43	10.082260	0.99332	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	.	.	.	5.6	5.6	0.85130	.	0.135632	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-23.8525	19.6231	0.95667	0.0:0.0:1.0:0.0	.	.	.	.	X	390;151	.	ENSP00000356437:E390X	E	+	1	0	SASH1	148882681	1.000000	0.71417	0.954000	0.39281	0.990000	0.78478	9.168000	0.94781	2.646000	0.89796	0.650000	0.86243	GAG		PASS	0.572	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		5	24	5	24	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150005649	150005649	+	Silent	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:150005649C>A	ENST00000543571.1	-	4	1123	c.576G>T	c.(574-576)ccG>ccT	p.P192P	LATS1_ENST00000392273.3_Silent_p.P192P|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Silent_p.P192P	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.P192P(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CTCCTAGTGGCGGGCCATGCC	0.448																																						uc003qmu.1																			2	Substitution - coding silent(2)		lung(2)	lung(5)|central_nervous_system(1)	6						c.(574-576)CCG>CCT		LATS homolog 1							73.0	78.0	76.0					6																	150005649		2203	4300	6503	SO:0001819	synonymous_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005649C>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.576G>T	6.37:g.150005649C>A						LATS1_uc010kif.1_Silent_p.P87P|LATS1_uc003qmv.1_Silent_p.P192P|LATS1_uc003qmw.2_Silent_p.P192P|LATS1_uc010kig.1_Silent_p.P87P	p.P192P	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1124	-		Ovarian(120;0.0164)	192						Silent	SNP	ENST00000543571.1	37	c.576G>T	CCDS34551.1																																																																																				PASS	0.448	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		22	84	22	84	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152770771	152770771	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:152770771G>C	ENST00000367255.5	-	28	4002	c.3401C>G	c.(3400-3402)tCt>tGt	p.S1134C	SYNE1_ENST00000367253.4_Missense_Mutation_p.S1134C|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1141C|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1134C|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1200C|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1124C|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1141C|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1134C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1134					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S1134C(2)|p.S1141C(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAGAACTCAGAGAATCTGAA	0.373										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3400-3402)TCT>TGT		spectrin repeat containing, nuclear envelope 1							85.0	81.0	82.0					6																	152770771		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152770771G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3401C>G	6.37:g.152770771G>C	ENSP00000356224:p.Ser1134Cys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.S1141C|SYNE1_uc003qou.3_Missense_Mutation_p.S1134C|SYNE1_uc010kjb.1_Missense_Mutation_p.S1117C|SYNE1_uc003qow.2_Missense_Mutation_p.S429C|SYNE1_uc003qox.1_Missense_Mutation_p.S650C	p.S1134C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	28	4003	-		Ovarian(120;0.0955)	1134			HAT 2.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3401C>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	7.244	0.601844	0.13939	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	6.07	3.31	0.37934	.	0.466636	0.20481	N	0.091498	T	0.35653	0.0939	L	0.52759	1.655	0.80722	D	1	D;B;B;D;B;B	0.76494	0.999;0.021;0.035;0.999;0.021;0.016	D;B;B;D;B;B	0.66716	0.91;0.015;0.033;0.946;0.015;0.02	T	0.20174	-1.0283	10	0.59425	D	0.04	.	7.4479	0.27221	0.1463:0.1384:0.7154:0.0	.	1117;1134;1124;1134;1134;1141	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	C	1134;1141;1134;1141;1200;1134;1124;1134	ENSP00000356224:S1134C;ENSP00000396024:S1141C;ENSP00000265368:S1134C;ENSP00000390975:S1141C;ENSP00000341887:S1200C;ENSP00000356222:S1134C;ENSP00000356217:S1124C;ENSP00000414510:S1134C	ENSP00000265368:S1134C	S	-	2	0	SYNE1	152812464	1.000000	0.71417	0.919000	0.36401	0.111000	0.19643	2.198000	0.42705	0.874000	0.35823	0.655000	0.94253	TCT		PASS	0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		33	99	33	99	---	---	---	---
SYTL3	94120	broad.mit.edu	37	6	159166633	159166633	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:159166633G>A	ENST00000297239.9	+	11	1171	c.977G>A	c.(976-978)tGc>tAc	p.C326Y	SYTL3_ENST00000360448.3_Missense_Mutation_p.C258Y|SYTL3_ENST00000367081.3_Missense_Mutation_p.C52Y			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	326	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.C258Y(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTAGAAATATGCATCAAGGCC	0.353																																						uc003qrp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(976-978)TGC>TAC		synaptotagmin-like 3							79.0	77.0	78.0					6																	159166633		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159166633G>A	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.977G>A	6.37:g.159166633G>A	ENSP00000297239:p.Cys326Tyr					SYTL3_uc011efp.1_Missense_Mutation_p.C326Y|SYTL3_uc003qro.2_Missense_Mutation_p.C258Y|SYTL3_uc003qrq.2_Missense_Mutation_p.C258Y|SYTL3_uc003qrr.2_Missense_Mutation_p.C326Y|SYTL3_uc003qrs.2_Missense_Mutation_p.C258Y|SYTL3_uc011efq.1_Missense_Mutation_p.C52Y	p.C326Y	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	11	1221	+		Breast(66;0.000776)|Ovarian(120;0.0303)	326			C2 1.		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.977G>A	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	1.255	-0.617532	0.03663	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.68479	-0.33;-0.33;-0.33	5.51	4.61	0.57282	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.448827	0.26665	N	0.023122	T	0.31765	0.0807	L	0.53249	1.67	0.29873	N	0.826638	B;B;B	0.13594	0.002;0.002;0.008	B;B;B	0.15870	0.008;0.01;0.014	T	0.22347	-1.0219	10	0.02654	T	1	.	8.695	0.34289	0.0837:0.15:0.7663:0.0	.	52;326;258	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	Y	258;326;326;52	ENSP00000353631:C258Y;ENSP00000297239:C326Y;ENSP00000356048:C52Y	ENSP00000297239:C326Y	C	+	2	0	SYTL3	159086621	0.971000	0.33674	1.000000	0.80357	0.975000	0.68041	1.582000	0.36568	1.254000	0.44035	0.655000	0.94253	TGC		PASS	0.353	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			8	87	8	87	---	---	---	---
SLC22A1	6580	broad.mit.edu	37	6	160543159	160543159	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr6:160543159G>T	ENST00000366963.4	+	1	339	c.192G>T	c.(190-192)tgG>tgT	p.W64C	SLC22A1_ENST00000457470.2_Missense_Mutation_p.W64C|SLC22A1_ENST00000324965.4_Missense_Mutation_p.W64C	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	64					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)	p.W64C(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	GCTGTGGCTGGAGCCCTGCGG	0.642																																						uc003qtc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)TGG>TGT		solute carrier family 22 member 1 isoform a							56.0	64.0	61.0					6																	160543159		2203	4300	6503	SO:0001583	missense	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160543159G>T	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.192G>T	6.37:g.160543159G>T	ENSP00000355930:p.Trp64Cys					SLC22A1_uc003qtd.2_Missense_Mutation_p.W64C	p.W64C	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	1	297	+		Breast(66;0.000776)|Ovarian(120;0.00556)	64			Extracellular (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	37	c.192G>T	CCDS5274.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845654	0.71603	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.75367	-0.76;-0.93;-0.91	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87543	0.2460	10	0.72032	D	0.01	.	19.3957	0.94605	0.0:0.0:1.0:0.0	.	64;64	O15245-2;O15245	.;S22A1_HUMAN	C	64	ENSP00000355930:W64C;ENSP00000318103:W64C;ENSP00000409557:W64C	ENSP00000318103:W64C	W	+	3	0	SLC22A1	160463149	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	7.307000	0.78920	2.579000	0.87056	0.561000	0.74099	TGG		PASS	0.642	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			36	136	36	136	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5391596	5391596	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:5391596G>A	ENST00000430969.1	-	17	5672	c.5324C>T	c.(5323-5325)cCc>cTc	p.P1775L	TNRC18_ENST00000399537.4_Missense_Mutation_p.P1775L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1775							chromatin binding (GO:0003682)	p.P1775L(2)|p.P830L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGTCAGCTTGGGGCCACCAGC	0.647																																						uc003soi.3																			3	Substitution - Missense(3)		lung(3)		0						c.(5323-5325)CCC>CTC		trinucleotide repeat containing 18							27.0	26.0	26.0					7																	5391596		1568	3582	5150	SO:0001583	missense	84629						DNA binding	g.chr7:5391596G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5324C>T	7.37:g.5391596G>A	ENSP00000395538:p.Pro1775Leu					TNRC18_uc003soj.2_Missense_Mutation_p.P157L	p.P1775L	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	17	5673	-		Ovarian(82;0.142)	1775					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.5324C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	11.80	1.745412	0.30955	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.09723	2.95;2.96	5.03	4.02	0.46733	.	0.000000	0.36167	N	0.002759	T	0.07908	0.0198	L	0.41356	1.27	0.39754	D	0.971924	B;B	0.15930	0.006;0.015	B;B	0.16722	0.016;0.004	T	0.22661	-1.0210	10	0.17832	T	0.49	.	5.8105	0.18463	0.3359:0.0:0.6641:0.0	.	830;1775	A8MSW5;O15417	.;TNC18_HUMAN	L	1775;1775;830	ENSP00000382452:P1775L;ENSP00000395538:P1775L	ENSP00000382452:P1775L	P	-	2	0	TNRC18	5358122	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.483000	0.45233	2.348000	0.79779	0.561000	0.74099	CCC		PASS	0.647	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				13	50	13	50	---	---	---	---
TWISTNB	221830	broad.mit.edu	37	7	19748468	19748468	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:19748468C>A	ENST00000222567.5	-	1	242	c.172G>T	c.(172-174)Gcg>Tcg	p.A58S		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	58					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.A58S(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGCGACAGCGCGATGTGCCTT	0.592											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003sup.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(172-174)GCG>TCG		TWIST neighbor							76.0	64.0	68.0					7																	19748468		2203	4300	6503	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19748468C>A	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.172G>T	7.37:g.19748468C>A	ENSP00000222567:p.Ala58Ser		OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735		p.A58S	NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN			1	193	-			58					A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.172G>T	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.835109	0.32421	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.06	4.06	0.47325	RNA polymerase Rpb7, N-terminal (1);	0.385702	0.28847	N	0.013952	T	0.38401	0.1039	L	0.41236	1.265	0.36794	D	0.885006	P	0.34684	0.463	B	0.32393	0.145	T	0.36432	-0.9748	9	0.16420	T	0.52	-13.6434	10.4566	0.44555	0.0:0.9085:0.0:0.0915	.	58	Q3B726	RPA43_HUMAN	S	58	.	ENSP00000222567:A58S	A	-	1	0	TWISTNB	19714993	1.000000	0.71417	0.991000	0.47740	0.651000	0.38670	1.725000	0.38074	2.246000	0.74042	0.655000	0.94253	GCG		PASS	0.592	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			13	49	13	49	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21751351	21751351	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:21751351G>A	ENST00000409508.3	+	42	6887	c.6856G>A	c.(6856-6858)Gag>Aag	p.E2286K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E2293K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2293	AAA 2. {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.E2293K(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						CGCCAGCAATGAGCGCATTGC	0.522									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6877-6879)GAG>AAG		dynein, axonemal, heavy chain 11							97.0	98.0	98.0					7																	21751351		2079	4216	6295	SO:0001583	missense	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.chr7:21751351G>A	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.6856G>A	7.37:g.21751351G>A	ENSP00000475939:p.Glu2286Lys						p.E2293K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			43	6908	+			2293			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.6877G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.611864	0.96637	.	.	ENSG00000105877	ENST00000328843	D	0.92048	-2.96	5.96	5.96	0.96718	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.96491	0.8855	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96462	0.9342	9	0.87932	D	0	.	19.1722	0.93583	0.0:0.0:1.0:0.0	.	2293	Q96DT5	DYH11_HUMAN	K	2293	ENSP00000330671:E2293K	ENSP00000330671:E2293K	E	+	1	0	DNAH11	21717876	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	6.709000	0.74665	2.826000	0.97356	0.655000	0.94253	GAG		PASS	0.522	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	175	7	175	---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37172782	37172782	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:37172782C>T	ENST00000310758.4	-	14	1791	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N	ELMO1_ENST00000442504.1_Missense_Mutation_p.D382N|ELMO1_ENST00000448602.1_Missense_Mutation_p.D382N|ELMO1_ENST00000341056.3_Missense_Mutation_p.D84N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	382	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.D382N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGCATGTTGTCCAGAGCCAAC	0.448																																						uc003tfk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(1144-1146)GAC>AAC		engulfment and cell motility 1 isoform 1							173.0	147.0	156.0					7																	37172782		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37172782C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1144G>A	7.37:g.37172782C>T	ENSP00000312185:p.Asp382Asn					ELMO1_uc011kbc.1_Missense_Mutation_p.D286N|ELMO1_uc010kxg.1_Missense_Mutation_p.D382N	p.D382N	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			14	1451	-			382			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1144G>A	CCDS5449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.677574|5.677574	0.96764|0.96764	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602|ENST00000433246	T;T;T;T|.	0.31247|.	1.5;1.5;1.5;1.5|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Engulfment/cell motility, ELMO (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75466|.	0.3853|.	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.74691|.	-0.3580|.	10|.	0.56958|.	D|.	0.05|.	.|.	18.0472|18.0472	0.89336|0.89336	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	382|.	Q92556|.	ELMO1_HUMAN|.	N|X	84;382;286;382;382|161	ENSP00000342142:D84N;ENSP00000312185:D382N;ENSP00000406952:D382N;ENSP00000394458:D382N|.	ENSP00000312185:D382N|.	D|W	-|-	1|3	0|0	ELMO1|ELMO1	37139307|37139307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.006000|7.006000	0.76329|0.76329	2.650000|2.650000	0.89964|0.89964	0.655000|0.655000	0.94253|0.94253	GAC|TGG		PASS	0.448	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		11	109	11	109	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41729898	41729898	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:41729898C>A	ENST00000242208.4	-	3	877	c.631G>T	c.(631-633)Gta>Tta	p.V211L	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.V211L|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	211					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.V211L(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CGAGCGTCTACTACTTTTTCA	0.592										TSP Lung(11;0.080)																												uc003thq.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(631-633)GTA>TTA		inhibin beta A precursor							70.0	64.0	66.0					7																	41729898		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729898C>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.631G>T	7.37:g.41729898C>A	ENSP00000242208:p.Val211Leu	TSP Lung(11;0.080)				INHBA_uc003thr.2_Missense_Mutation_p.V211L	p.V211L	NM_002192	NP_002183	P08476	INHBA_HUMAN			2	866	-			211					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.631G>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	17.74	3.463030	0.63513	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.70045	-0.45;-0.45	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.122450	0.56097	D	0.000031	T	0.62938	0.2469	L	0.35644	1.08	0.80722	D	1	B	0.31581	0.329	B	0.33690	0.168	T	0.58896	-0.7555	10	0.42905	T	0.14	-23.6091	20.6208	0.99490	0.0:1.0:0.0:0.0	.	211	P08476	INHBA_HUMAN	L	211	ENSP00000242208:V211L;ENSP00000397197:V211L	ENSP00000242208:V211L	V	-	1	0	INHBA	41696423	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.696000	0.61774	2.882000	0.98803	0.655000	0.94253	GTA		PASS	0.592	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			33	72	33	72	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43283525	43283525	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:43283525T>A	ENST00000395891.2	+	3	626	c.21T>A	c.(19-21)agT>agA	p.S7R	AC004692.4_ENST00000457315.1_RNA|AC004692.4_ENST00000458590.1_RNA|AC004692.4_ENST00000458680.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.S7R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	7					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S7R(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCTGTGTAGTGTGAAGGTCA	0.463																																						uc003tid.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(19-21)AGT>AGA		NEDD4-like ubiquitin-protein ligase 1							241.0	238.0	239.0					7																	43283525		2078	4209	6287	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43283525T>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.21T>A	7.37:g.43283525T>A	ENSP00000379228:p.Ser7Arg					HECW1_uc011kbi.1_Missense_Mutation_p.S7R|HECW1_uc003tie.1_Intron	p.S7R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			3	626	+			7					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.21T>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224153	0.39300	.	.	ENSG00000002746	ENST00000395891;ENST00000453890	T;T	0.35973	1.28;1.28	4.67	3.49	0.39957	.	2.015770	0.02906	U	0.136033	T	0.49184	0.1542	N	0.22421	0.69	0.33390	D	0.576042	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.28522	-1.0041	10	0.72032	D	0.01	.	9.4901	0.38953	0.0:0.0891:0.0:0.9109	.	7;7	B4DH42;Q76N89	.;HECW1_HUMAN	R	7	ENSP00000379228:S7R;ENSP00000407774:S7R	ENSP00000379228:S7R	S	+	3	2	HECW1	43250050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.407000	0.59754	0.611000	0.30052	0.460000	0.39030	AGT		PASS	0.463	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		5	171	5	171	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44687346	44687346	+	Missense_Mutation	SNP	A	A	C	rs200229019		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:44687346A>C	ENST00000222673.5	+	4	547	c.505A>C	c.(505-507)Aca>Cca	p.T169P	OGDH_ENST00000447398.1_Intron|OGDH_ENST00000444676.1_Missense_Mutation_p.T169P|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000443864.2_Missense_Mutation_p.T169P|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000449767.1_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	169					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.T169P(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TATCTCATCCACAGACAAACT	0.577																																						uc003tln.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(505-507)ACA>CCA		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						104.0	94.0	97.0					7																	44687346		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44687346A>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.505A>C	7.37:g.44687346A>C	ENSP00000222673:p.Thr169Pro					OGDH_uc003tlm.2_Missense_Mutation_p.T169P|OGDH_uc011kbx.1_Intron|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Intron|OGDH_uc011kbz.1_Silent_p.P15P|OGDH_uc003tlo.1_5'UTR	p.T169P	NM_002541	NP_002532	Q02218	ODO1_HUMAN			4	614	+			169					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.505A>C	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.912761	0.33721	.	.	ENSG00000105953	ENST00000443864;ENST00000419661;ENST00000444676;ENST00000222673	T;T;T;T	0.42131	0.98;0.98;3.38;0.98	6.17	4.96	0.65561	.	0.329077	0.38058	N	0.001824	T	0.28764	0.0713	N	0.20986	0.625	0.80722	D	1	B;B	0.23377	0.0;0.084	B;B	0.24394	0.001;0.053	T	0.08310	-1.0728	10	0.37606	T	0.19	-1.1714	10.326	0.43793	0.7486:0.0:0.0:0.2514	.	169;169	Q02218;Q96DD3	ODO1_HUMAN;.	P	169	ENSP00000388084:T169P;ENSP00000411830:T169P;ENSP00000414662:T169P;ENSP00000222673:T169P	ENSP00000222673:T169P	T	+	1	0	OGDH	44653871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.886000	0.48578	2.371000	0.80710	0.533000	0.62120	ACA		PASS	0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			34	106	34	106	---	---	---	---
ZNF107	51427	broad.mit.edu	37	7	64168413	64168413	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:64168413G>A	ENST00000395391.1	+	4	3106	c.1731G>A	c.(1729-1731)gaG>gaA	p.E577E	ZNF107_ENST00000344930.3_Silent_p.E577E|ZNF107_ENST00000423627.1_Silent_p.E577E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	577					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.E577E(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATACTGGAGAGAACCTCTACA	0.338																																						uc003ttd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1729-1731)GAG>GAA		zinc finger protein 107							46.0	53.0	50.0					7																	64168413		2200	4297	6497	SO:0001819	synonymous_variant	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168413G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1731G>A	7.37:g.64168413G>A						ZNF107_uc003tte.2_Silent_p.E577E	p.E577E	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	2517	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	577						Silent	SNP	ENST00000395391.1	37	c.1731G>A	CCDS5527.1																																																																																				PASS	0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		6	197	6	197	---	---	---	---
POM121	9883	broad.mit.edu	37	7	72409131	72409131	+	Silent	SNP	C	C	G	rs199634236		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:72409131C>G	ENST00000434423.2	+	6	1278	c.1278C>G	c.(1276-1278)ctC>ctG	p.L426L	POM121_ENST00000257622.4_Silent_p.L161L|POM121_ENST00000395270.1_Silent_p.L161L|POM121_ENST00000446813.1_Silent_p.L161L|POM121_ENST00000358357.3_Silent_p.L161L			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	426	Pore side. {ECO:0000255}.|Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.L161L(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATTTTTAGCTCTGGAAGAGAA	0.473																																						uc003twk.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1276-1278)CTC>CTG		nuclear pore membrane protein 121		C		0,4406		0,0,2203	111.0	117.0	115.0		483	-5.2	0.5	7		115	5,8591	4.3+/-15.6	0,5,4293	no	coding-synonymous	POM121	NM_172020.2		0,5,6496	GG,GC,CC		0.0582,0.0,0.0385		161/985	72409131	5,12997	2203	4298	6501	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72409131C>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1278C>G	7.37:g.72409131C>G						POM121_uc003twj.2_Silent_p.L161L|POM121_uc010lam.1_Silent_p.L161L	p.L426L	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			6	1278	+		Lung NSC(55;0.163)	426			Ser-rich.|Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.1278C>G																																																																																					PASS	0.473	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			71	231	71	231	---	---	---	---
TRIM73	375593	broad.mit.edu	37	7	75034322	75034322	+	Silent	SNP	C	C	T	rs150021451		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:75034322C>T	ENST00000437796.1	+	3	715	c.696C>T	c.(694-696)ttC>ttT	p.F232F	TRIM73_ENST00000450434.1_Silent_p.F101F|TRIM73_ENST00000323819.3_Silent_p.F232F|TRIM73_ENST00000447409.2_Silent_p.F232F|TRIM73_ENST00000430211.1_Silent_p.F232F			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	232						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.F232F(2)		endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGGAACAGTTCGGCAATGAGG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17148	0.001		0.0	False		,,,				2504	0.0					uc003udc.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(694-696)TTC>TTT		tripartite motif-containing 73		C		0,4402		0,0,2201	140.0	122.0	128.0		696	-6.0	0.0	7	dbSNP_134	128	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	TRIM73	NM_198924.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		232/251	75034322	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	378108					intracellular	zinc ion binding	g.chr7:75034322C>T	AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.696C>T	7.37:g.75034322C>T						TRIM74_uc010ldc.2_Silent_p.F232F|TRIM74_uc010ldd.2_Silent_p.F232F	p.F232F	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN			4	896	+			232			Potential.		Q8N0S3	Silent	SNP	ENST00000437796.1	37	c.696C>T	CCDS34665.1																																																																																				PASS	0.657	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342950.1			4	163	4	163	---	---	---	---
STEAP1	26872	broad.mit.edu	37	7	89793811	89793811	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:89793811C>T	ENST00000297205.2	+	5	983	c.783C>T	c.(781-783)tcC>tcT	p.S261S	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	261	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)	p.S261S(1)		kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GAATTGTTTCCCTTCTACTGG	0.368																																						uc003ujx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(781-783)TCC>TCT		six transmembrane epithelial antigen of the							119.0	125.0	123.0					7																	89793811		2203	4300	6503	SO:0001819	synonymous_variant	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89793811C>T	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.783C>T	7.37:g.89793811C>T							p.S261S	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			5	983	+	all_hematologic(106;0.112)		261			Ferric oxidoreductase.|Helical; (Potential).		A4D1E0|O95034	Silent	SNP	ENST00000297205.2	37	c.783C>T	CCDS5614.1																																																																																				PASS	0.368	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		39	378	39	378	---	---	---	---
PDK4	5166	broad.mit.edu	37	7	95223028	95223028	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:95223028G>T	ENST00000005178.5	-	3	524	c.327C>A	c.(325-327)gaC>gaA	p.D109E	AC002451.3_ENST00000432265.1_RNA|AC002451.3_ENST00000416502.1_RNA	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	109			D -> G (in dbSNP:rs34898343). {ECO:0000269|PubMed:17344846}.		cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.D109E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATGCTTTCTGGTCATCTGGGC	0.323																																						uc003uoa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GAC>GAA		pyruvate dehydrogenase kinase 4 precursor							109.0	112.0	111.0					7																	95223028		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95223028G>T	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.327C>A	7.37:g.95223028G>T	ENSP00000005178:p.Asp109Glu					PDK4_uc003unz.2_5'Flank	p.D109E	NM_002612	NP_002603	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	647	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		109						Missense_Mutation	SNP	ENST00000005178.5	37	c.327C>A	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823868	0.50739	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.28895	1.59	5.48	4.59	0.56863	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.042207	0.85682	D	0.000000	T	0.39886	0.1095	M	0.82517	2.595	0.51482	D	0.999925	B	0.06786	0.001	B	0.19666	0.026	T	0.32851	-0.9891	10	0.39692	T	0.17	.	15.3169	0.74089	0.0707:0.0:0.9293:0.0	.	109	Q16654	PDK4_HUMAN	E	109;73	ENSP00000005178:D109E	ENSP00000005178:D109E	D	-	3	2	PDK4	95060964	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.642000	0.37207	2.736000	0.93811	0.655000	0.94253	GAC		PASS	0.323	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		29	175	29	175	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028427	100028427	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:100028427G>A	ENST00000310512.2	+	1	1174	c.786G>A	c.(784-786)cgG>cgA	p.R262R	ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	262					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R262R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCGGAAGCGGCATAGACACC	0.597																																						uc003uuw.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(784-786)CGG>CGA		bin3, bicoid-interacting 3							118.0	129.0	125.0					7																	100028427		2203	4300	6503	SO:0001819	synonymous_variant	56257						methyltransferase activity	g.chr7:100028427G>A	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.786G>A	7.37:g.100028427G>A						ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	p.R262R	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN			1	899	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		262					B3KP86|D6W5V7|Q9NPD4	Silent	SNP	ENST00000310512.2	37	c.786G>A	CCDS5693.1																																																																																				PASS	0.597	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			5	345	5	345	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100388590	100388590	+	RNA	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:100388590G>T	ENST00000348028.3	+	0	7548				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2461W(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATGTACGAGGGGCTTGTGAG	0.517																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7384-7386)GGG>TGG		zonadhesin isoform 3							49.0	58.0	55.0					7																	100388590		2134	4257	6391			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100388590G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100388590G>T						ZAN_uc003uwk.2_Missense_Mutation_p.G2462W|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron	p.G2462W	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		41	7549	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2462			VWFD 4.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.7384G>T		.	.	.	.	.	.	.	.	.	.	G	2.514	-0.312319	0.05422	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.64803	-0.12;-0.12;-0.12	4.23	0.178	0.15058	von Willebrand factor, type D domain (3);	1.193030	0.06049	N	0.656343	T	0.73410	0.3583	.	.	.	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.66497	0.906;0.944	T	0.57159	-0.7859	9	0.87932	D	0	.	6.1775	0.20451	0.4895:0.0:0.5105:0.0	.	2461;2462	F5H0T8;Q9Y493	.;ZAN_HUMAN	W	2461	ENSP00000445943:G2461W;ENSP00000445091:G2461W;ENSP00000444427:G2461W	ENSP00000445091:G2461W	G	+	1	0	ZAN	100226526	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	-0.058000	0.11750	0.118000	0.18165	0.555000	0.69702	GGG		PASS	0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		13	21	13	21	---	---	---	---
ACHE	43	broad.mit.edu	37	7	100490047	100490047	+	Silent	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:100490047C>G	ENST00000412389.1	-	2	1616	c.1461G>C	c.(1459-1461)ggG>ggC	p.G487G	ACHE_ENST00000411582.1_Silent_p.G487G|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000302913.4_Silent_p.G487G|ACHE_ENST00000428317.1_Silent_p.G487G|ACHE_ENST00000241069.5_Silent_p.G487G|ACHE_ENST00000419336.2_Silent_p.G399G			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	487					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)	p.G487G(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCAGGGGGATCCCAAAGATGA	0.607																																						uc003uxd.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(1459-1461)GGG>GGC		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						48.0	47.0	48.0					7																	100490047		2203	4300	6503	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490047C>G		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1461G>C	7.37:g.100490047C>G						UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.G487G|ACHE_uc003uxf.2_Silent_p.G487G|ACHE_uc003uxg.2_Silent_p.G487G|ACHE_uc003uxh.2_Silent_p.G399G|ACHE_uc003uxi.2_Silent_p.G487G	p.G487G	NM_000665	NP_000656	P22303	ACES_HUMAN			2	1617	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		487					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.1461G>C	CCDS5709.1																																																																																				PASS	0.607	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		21	71	21	71	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103191681	103191681	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:103191681C>G	ENST00000428762.1	-	41	6294	c.6135G>C	c.(6133-6135)agG>agC	p.R2045S	RELN_ENST00000424685.2_Missense_Mutation_p.R2045S|RELN_ENST00000343529.5_Missense_Mutation_p.R2045S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2045					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R2045S(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCCCGAAGTCCCTTGAAAATT	0.537																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6133-6135)AGG>AGC		reelin isoform a							68.0	56.0	60.0					7																	103191681		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191681C>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6135G>C	7.37:g.103191681C>G	ENSP00000392423:p.Arg2045Ser					RELN_uc010liz.2_Missense_Mutation_p.R2045S	p.R2045S	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6295	-			2045			BNR 9.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6135G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141362	0.77775	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21543	2.0;2.0;2.0	5.96	5.96	0.96718	Neuraminidase (1);	0.044142	0.85682	D	0.000000	T	0.29458	0.0734	L	0.38531	1.155	0.52501	D	0.999958	D;B	0.61080	0.989;0.31	P;B	0.58077	0.832;0.318	T	0.00809	-1.1557	10	0.54805	T	0.06	.	10.4004	0.44227	0.0:0.8518:0.0:0.1482	.	2045;2045	P78509-2;P78509	.;RELN_HUMAN	S	2045	ENSP00000392423:R2045S;ENSP00000345694:R2045S;ENSP00000388446:R2045S	ENSP00000345694:R2045S	R	-	3	2	RELN	102978917	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.811000	0.47986	2.831000	0.97527	0.650000	0.86243	AGG		PASS	0.537	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		11	85	11	85	---	---	---	---
SYPL1	6856	broad.mit.edu	37	7	105733500	105733500	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:105733500T>C	ENST00000011473.2	-	5	586	c.540A>G	c.(538-540)atA>atG	p.I180M	SYPL1_ENST00000470347.1_Missense_Mutation_p.I162M|SYPL1_ENST00000455385.2_Missense_Mutation_p.I162M	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	180	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)	p.I180M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						GACCAGTAGCTATTTTAATAT	0.398																																						uc003vdp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)ATA>ATG		synaptophysin-like 1 isoform a							76.0	64.0	68.0					7																	105733500		2203	4300	6503	SO:0001583	missense	6856				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105733500T>C		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.540A>G	7.37:g.105733500T>C	ENSP00000011473:p.Ile180Met					SYPL1_uc003vdo.2_Missense_Mutation_p.I162M	p.I180M	NM_006754	NP_006745	Q16563	SYPL1_HUMAN			5	622	-			180			Vesicular (Potential).|MARVEL.		A4D0R2|Q96AR8	Missense_Mutation	SNP	ENST00000011473.2	37	c.540A>G	CCDS5736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.78|13.78	2.339868|2.339868	0.41398|0.41398	.|.	.|.	ENSG00000008282|ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347|ENST00000464029	T;T;T|.	0.25250|.	1.81;1.81;1.81|.	5.29|5.29	1.42|1.42	0.22433|0.22433	Marvel (1);MARVEL-like domain (1);|.	0.742820|.	0.13634|.	N|.	0.373516|.	T|.	0.26231|.	0.0640|.	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	B|.	0.31125|.	0.309|.	B|.	0.31946|.	0.138|.	T|.	0.23476|.	-1.0187|.	10|.	0.33141|.	T|.	0.24|.	-0.6969|-0.6969	1.39|1.39	0.02248|0.02248	0.1313:0.161:0.2703:0.4373|0.1313:0.161:0.2703:0.4373	.|.	180|.	Q16563|.	SYPL1_HUMAN|.	M|W	162;180;162|86	ENSP00000388336:I162M;ENSP00000011473:I180M;ENSP00000419070:I162M|.	ENSP00000011473:I180M|.	I|X	-|-	3|2	3|0	SYPL1|SYPL1	105520736|105520736	0.005000|0.005000	0.15991|0.15991	0.571000|0.571000	0.28486|0.28486	0.707000|0.707000	0.40811|0.40811	0.053000|0.053000	0.14184|0.14184	0.369000|0.369000	0.24510|0.24510	0.533000|0.533000	0.62120|0.62120	ATA|TAG		PASS	0.398	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			24	43	24	43	---	---	---	---
FEZF1	389549	broad.mit.edu	37	7	121942175	121942175	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:121942175C>G	ENST00000442488.2	-	4	1371	c.1304G>C	c.(1303-1305)gGc>gCc	p.G435A	FEZF1_ENST00000427185.2_Missense_Mutation_p.G385A|FEZF1_ENST00000331178.4_Missense_Mutation_p.G431A|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	435	Pro-rich.				axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.G431A(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCCTGGTTCGCCAGCTGGCGT	0.701																																						uc003vkd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1303-1305)GGC>GCC		FEZ family zinc finger 1 isoform 1							49.0	49.0	49.0					7																	121942175		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942175C>G	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1304G>C	7.37:g.121942175C>G	ENSP00000411145:p.Gly435Ala					FEZF1_uc003vkc.2_Missense_Mutation_p.G385A|uc010lko.1_5'Flank	p.G435A	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			4	1378	-			435			Pro-rich.		A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.1304G>C	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	5.096	0.203318	0.09704	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.06849	3.25;3.4;3.28	5.2	3.24	0.37175	.	0.187611	0.34580	N	0.003842	T	0.05502	0.0145	N	0.08118	0	0.34399	D	0.69505	B;B	0.33612	0.295;0.419	B;B	0.38500	0.063;0.275	T	0.38542	-0.9656	10	0.42905	T	0.14	-12.9605	10.5149	0.44883	0.138:0.7818:0.0:0.0802	.	435;385	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	A	435;431;385	ENSP00000411145:G435A;ENSP00000332777:G431A;ENSP00000392727:G385A	ENSP00000332777:G431A	G	-	2	0	FEZF1	121729411	.	.	0.970000	0.41538	0.402000	0.30811	.	.	1.423000	0.47198	-0.268000	0.10319	GGC		PASS	0.701	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		6	49	6	49	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122763268	122763268	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:122763268A>G	ENST00000194130.2	-	12	1301	c.1262T>C	c.(1261-1263)cTg>cCg	p.L421P	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	421					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.L421P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CCAAGTAATCAGTGGAGAGTA	0.398																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1261-1263)CTG>CCG		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						108.0	109.0	109.0					7																	122763268		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122763268A>G		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1262T>C	7.37:g.122763268A>G	ENSP00000194130:p.Leu421Pro					SLC13A1_uc010lks.2_Missense_Mutation_p.L297P	p.L421P	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			12	1287	-			421					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1262T>C	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406992	0.83230	.	.	ENSG00000081800	ENST00000194130	T	0.03689	3.84	5.89	5.89	0.94794	.	0.403854	0.25668	N	0.029090	T	0.27559	0.0677	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.28267	-1.0049	10	0.87932	D	0	-0.2756	15.4723	0.75449	1.0:0.0:0.0:0.0	.	421;421	A4D0X1;Q9BZW2	.;S13A1_HUMAN	P	421	ENSP00000194130:L421P	ENSP00000194130:L421P	L	-	2	0	SLC13A1	122550504	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.911000	0.75746	2.251000	0.74343	0.482000	0.46254	CTG		PASS	0.398	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		52	186	52	186	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126249443	126249443	+	Silent	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:126249443G>T	ENST00000339582.2	-	8	2275	c.1467C>A	c.(1465-1467)ggC>ggA	p.G489G	GRM8_ENST00000444921.2_Silent_p.G489G|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Silent_p.G489G			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	489					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.G489G(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGGTCCAGTGGCCGATGACTT	0.378										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - coding silent(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1465-1467)GGC>GGA		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						238.0	208.0	218.0					7																	126249443		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126249443G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1467C>A	7.37:g.126249443G>T		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.G489G|GRM8_uc010lkz.1_RNA	p.G489G	NM_000845	NP_000836	O00222	GRM8_HUMAN			7	1778	-		Prostate(267;0.186)	489			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1467C>A	CCDS5794.1																																																																																				PASS	0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			61	265	61	265	---	---	---	---
TMEM140	55281	broad.mit.edu	37	7	134849492	134849492	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:134849492C>T	ENST00000275767.3	+	2	522	c.299C>T	c.(298-300)cCt>cTt	p.P100L	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	100						integral component of membrane (GO:0016021)		p.P100L(1)		kidney(1)|large_intestine(2)|lung(2)	5						GCCCCCCAGCCTCTCCTCCTA	0.682																																						uc003vsi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(298-300)CCT>CTT		transmembrane protein 140							56.0	52.0	53.0					7																	134849492		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849492C>T	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.299C>T	7.37:g.134849492C>T	ENSP00000275767:p.Pro100Leu					C7orf49_uc003vsh.2_Intron	p.P100L	NM_018295	NP_060765	Q9NV12	TM140_HUMAN			2	580	+			100			Cytoplasmic (Potential).		A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.299C>T	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947292	0.53186	.	.	ENSG00000146859	ENST00000275767	T	0.28069	1.63	5.28	5.28	0.74379	.	0.119371	0.38605	N	0.001628	T	0.52484	0.1737	M	0.67953	2.075	0.45250	D	0.998252	D	0.69078	0.997	D	0.65987	0.94	T	0.51212	-0.8734	10	0.56958	D	0.05	-15.3659	15.9541	0.79871	0.0:1.0:0.0:0.0	.	100	Q9NV12	TM140_HUMAN	L	100	ENSP00000275767:P100L	ENSP00000275767:P100L	P	+	2	0	TMEM140	134500032	0.027000	0.19231	1.000000	0.80357	0.062000	0.15995	2.605000	0.46283	2.746000	0.94184	0.655000	0.94253	CCT		PASS	0.682	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		4	140	4	140	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149510794	149510794	+	RNA	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:149510794T>C	ENST00000378016.2	+	0	10079							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCATCTGCGTGCAGCCGGGT	0.682																																						uc010lpk.2																			0					0						c.(10078-10080)GTG>GCG		SCO-spondin precursor							18.0	22.0	20.0					7																	149510794		1993	4158	6151			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149510794T>C	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.149510794T>C							p.V3360A	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		72	10079	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3360			TIL 5.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.10079T>C																																																																																					PASS	0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				7	32	7	32	---	---	---	---
GIMAP5	55340	broad.mit.edu	37	7	150439684	150439684	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr7:150439684A>G	ENST00000358647.3	+	3	824	c.457A>G	c.(457-459)Aaa>Gaa	p.K153E	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	153	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.K153E(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTCACCCACAAAGAGGACTT	0.562																																						uc003whr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(457-459)AAA>GAA		GTPase, IMAP family member 5							97.0	93.0	95.0					7																	150439684		2203	4300	6503	SO:0001583	missense	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150439684A>G	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.457A>G	7.37:g.150439684A>G	ENSP00000351473:p.Lys153Glu					GIMAP5_uc010lpu.2_Missense_Mutation_p.K11E	p.K153E	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	809	+			153			Cytoplasmic (Potential).|GTP (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.457A>G	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975457	0.53720	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.33654	1.4	4.15	1.72	0.24424	AIG1 (1);	0.491254	0.23208	N	0.050714	T	0.46756	0.1409	M	0.68317	2.08	0.29945	N	0.820765	D	0.76494	0.999	D	0.64042	0.921	T	0.42068	-0.9473	10	0.40728	T	0.16	.	3.9196	0.09237	0.6674:0.218:0.1146:0.0	.	153	Q96F15	GIMA5_HUMAN	E	153;189	ENSP00000351473:K153E	ENSP00000351473:K153E	K	+	1	0	GIMAP5	150070617	0.006000	0.16342	0.987000	0.45799	0.565000	0.35776	1.072000	0.30678	0.175000	0.19841	0.533000	0.62120	AAA		PASS	0.562	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		63	188	63	188	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10465650	10465650	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:10465650G>A	ENST00000382483.3	-	4	6181	c.5958C>T	c.(5956-5958)acC>acT	p.T1986T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2066	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.T1986T(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGCCTCCTGGGTCTCCACTT	0.587																																						uc003wtc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5956-5958)ACC>ACT		retinitis pigmentosa 1-like 1							165.0	181.0	176.0					8																	10465650		1987	4170	6157	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10465650G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5958C>T	8.37:g.10465650G>A							p.T1986T	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6187	-			1986					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.5958C>T	CCDS43708.1																																																																																				PASS	0.587	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			117	353	117	353	---	---	---	---
ATP6V1B2	526	broad.mit.edu	37	8	20055041	20055041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:20055041C>T	ENST00000276390.2	+	1	164	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	42					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.Q42*(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	CTACCTCTCCCAGCCTCGCCT	0.647																																					Pancreas(119;1230 1726 3901 4036 31644)	uc003wzp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(124-126)CAG>TAG		vacuolar H+ATPase B2							23.0	28.0	27.0					8																	20055041		2202	4299	6501	SO:0001587	stop_gained	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20055041C>T	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.124C>T	8.37:g.20055041C>T	ENSP00000276390:p.Gln42*						p.Q42*	NM_001693	NP_001684	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	1	338	+			42					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Nonsense_Mutation	SNP	ENST00000276390.2	37	c.124C>T	CCDS6014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.159727|5.159727	0.94727|0.94727	.|.	.|.	ENSG00000147416|ENSG00000147416	ENST00000519667|ENST00000276390	.|.	.|.	.|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	.|0.061933	.|0.64402	.|D	.|0.000002	T|.	0.44008|.	0.1273|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.45934|.	-0.9227|.	3|.	.|0.10636	.|T	.|0.68	-19.5291|-19.5291	13.2672|13.2672	0.60141|0.60141	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	31|42	.|.	.|ENSP00000276390:Q42X	P|Q	+|+	2|1	0|0	ATP6V1B2|ATP6V1B2	20099321|20099321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.447000|0.447000	0.32167|0.32167	5.268000|5.268000	0.65536|0.65536	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	CCA|CAG		PASS	0.647	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		4	16	4	16	---	---	---	---
TNFRSF10D	8793	broad.mit.edu	37	8	23003215	23003215	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:23003215C>T	ENST00000312584.3	-	5	796	c.702G>A	c.(700-702)aaG>aaA	p.K234K		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	234					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.K234K(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AAATGAATTTCTTCCGACATG	0.517																																						uc003xcz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(700-702)AAG>AAA		tumor necrosis factor receptor superfamily,							100.0	86.0	91.0					8																	23003215		2203	4300	6503	SO:0001819	synonymous_variant	8793				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity	g.chr8:23003215C>T	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.702G>A	8.37:g.23003215C>T							p.K234K	NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	5	794	-		Prostate(55;0.0421)|Breast(100;0.067)	234			Cytoplasmic (Potential).		B2R8W0|Q9Y6Q4	Silent	SNP	ENST00000312584.3	37	c.702G>A	CCDS6038.1																																																																																				PASS	0.517	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1			12	89	12	89	---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28385506	28385506	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:28385506A>G	ENST00000240093.3	+	5	1707	c.1229A>G	c.(1228-1230)aAc>aGc	p.N410S	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.N410S	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	410					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.N410S(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GAAAAGGAGAACCAAGATAAA	0.408																																						uc003xgx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1228-1230)AAC>AGC		frizzled 3 precursor							157.0	159.0	158.0					8																	28385506		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385506A>G	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1229A>G	8.37:g.28385506A>G	ENSP00000240093:p.Asn410Ser					FZD3_uc010lvb.2_Missense_Mutation_p.N410S	p.N410S	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1707	+		Ovarian(32;2.06e-05)	410			Cytoplasmic (Potential).		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.1229A>G	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760840	0.69763	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.81908	-1.55;-1.55	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.90356	0.6982	M	0.74389	2.26	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.91202	0.4992	10	0.62326	D	0.03	.	14.3149	0.66443	1.0:0.0:0.0:0.0	.	410	Q9NPG1	FZD3_HUMAN	S	410	ENSP00000437489:N410S;ENSP00000240093:N410S	ENSP00000240093:N410S	N	+	2	0	FZD3	28441425	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.060000	0.61445	0.460000	0.39030	AAC		PASS	0.408	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		40	256	40	256	---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38271765	38271765	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:38271765G>A	ENST00000447712.2	-	16	3032	c.2091C>T	c.(2089-2091)ggC>ggT	p.G697G	FGFR1_ENST00000397091.5_Silent_p.G695G|FGFR1_ENST00000397113.2_Silent_p.G695G|FGFR1_ENST00000425967.3_Silent_p.G728G|FGFR1_ENST00000326324.6_Silent_p.G606G|FGFR1_ENST00000532791.1_Silent_p.G695G|FGFR1_ENST00000397103.1_Silent_p.G608G|FGFR1_ENST00000335922.5_Silent_p.G687G|FGFR1_ENST00000356207.5_Silent_p.G608G|FGFR1_ENST00000341462.5_Silent_p.G697G|FGFR1_ENST00000397108.4_Silent_p.G695G	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	697	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.G697G(6)|p.G687G(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ATGGGGAGCCGCCCAGAGTGA	0.607		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		7	Substitution - coding silent(7)		lung(7)	lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15						c.(2089-2091)GGC>GGT		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)						46.0	51.0	49.0					8																	38271765		2132	4273	6405	SO:0001819	synonymous_variant	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38271765G>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2091C>T	8.37:g.38271765G>A						FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.G695G|FGFR1_uc011lbp.1_Silent_p.G608G|FGFR1_uc011lbq.1_Silent_p.G606G|FGFR1_uc010lwk.2_Silent_p.G687G	p.G697G	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		17	3033	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	697			Cytoplasmic (Potential).|Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	c.2091C>T	CCDS6107.2																																																																																				PASS	0.607	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	94	6	94	---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38871541	38871541	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:38871541C>G	ENST00000487273.2	+	4	390	c.312C>G	c.(310-312)atC>atG	p.I104M	ADAM9_ENST00000466936.1_Missense_Mutation_p.I104M|ADAM9_ENST00000481513.1_Missense_Mutation_p.I104M	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	104				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.I104M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GGACTTTAATCACTGACCATC	0.313																																						uc003xmr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(310-312)ATC>ATG		ADAM metallopeptidase domain 9 isoform 1							131.0	134.0	133.0					8																	38871541		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38871541C>G	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.312C>G	8.37:g.38871541C>G	ENSP00000419446:p.Ile104Met					ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xmo.1_Missense_Mutation_p.I104M|ADAM9_uc003xmp.2_Missense_Mutation_p.I104M	p.I104M	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		4	390	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	104	Missing (in Ref. 2; no nucleotide entry).		Extracellular (Potential).		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.312C>G	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165267	0.21538	.	.	ENSG00000168615	ENST00000466936;ENST00000481513;ENST00000487273	T;T;T	0.06142	3.34;3.34;3.34	5.58	3.77	0.43336	Peptidase M12B, propeptide (1);	0.573449	0.19205	N	0.120089	T	0.13415	0.0325	L	0.50993	1.605	0.27723	N	0.945057	P;D;D	0.65815	0.487;0.995;0.985	B;D;P	0.63877	0.332;0.919;0.865	T	0.09271	-1.0682	10	0.38643	T	0.18	.	4.7523	0.13066	0.164:0.615:0.1399:0.081	.	104;104;104	Q13443;C9J6H5;C9JPM3	ADAM9_HUMAN;.;.	M	104	ENSP00000420257:I104M;ENSP00000417066:I104M;ENSP00000419446:I104M	ENSP00000369249:I104M	I	+	3	3	ADAM9	38990698	0.958000	0.32768	0.908000	0.35775	0.003000	0.03518	0.442000	0.21628	0.709000	0.31976	-0.176000	0.13171	ATC		PASS	0.313	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			6	230	6	230	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53030906	53030906	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:53030906G>T	ENST00000276480.7	-	24	3534	c.2851C>A	c.(2851-2853)Cag>Aag	p.Q951K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	951					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q951K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACCTGGGTCTGAAGTTTCATC	0.294																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2851-2853)CAG>AAG		suppression of tumorigenicity 18							183.0	179.0	181.0					8																	53030906		2202	4297	6499	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53030906G>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2851C>A	8.37:g.53030906G>T	ENSP00000276480:p.Gln951Lys					ST18_uc011ldq.1_Missense_Mutation_p.Q598K|ST18_uc011ldr.1_Missense_Mutation_p.Q916K|ST18_uc011lds.1_Missense_Mutation_p.Q856K|ST18_uc003xra.2_Missense_Mutation_p.Q951K	p.Q951K	NM_014682	NP_055497	O60284	ST18_HUMAN			19	3007	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	951			Potential.		Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2851C>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669037	0.88348	.	.	ENSG00000147488	ENST00000276480	T	0.42900	0.96	5.32	5.32	0.75619	.	0.060461	0.64402	D	0.000002	T	0.57227	0.2039	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.53330	-0.8454	10	0.38643	T	0.18	-15.421	18.9918	0.92796	0.0:0.0:1.0:0.0	.	951	O60284	ST18_HUMAN	K	951	ENSP00000276480:Q951K	ENSP00000276480:Q951K	Q	-	1	0	ST18	53193459	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.415000	0.97375	2.499000	0.84300	0.591000	0.81541	CAG		PASS	0.294	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			36	128	36	128	---	---	---	---
NPBWR1	2831	broad.mit.edu	37	8	53852526	53852526	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:53852526C>A	ENST00000331251.3	+	1	1536	c.59C>A	c.(58-60)gCg>gAg	p.A20E		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	20					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.A20E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CCGGACCCGGCGCTGAGCTGC	0.716																																						uc011ldu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(58-60)GCG>GAG		G protein-coupled receptor 7							8.0	10.0	10.0					8																	53852526		2149	4227	6376	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852526C>A	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.59C>A	8.37:g.53852526C>A	ENSP00000330284:p.Ala20Glu						p.A20E	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	59	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	20			Extracellular (Potential).		Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.59C>A	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049400	0.19827	.	.	ENSG00000183729	ENST00000331251	T	0.69040	-0.37	4.53	-2.87	0.05700	.	1.824700	0.03557	N	0.226429	T	0.36468	0.0968	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37220	-0.9715	10	0.02654	T	1	.	2.8382	0.05521	0.2224:0.4363:0.2194:0.122	.	20	P48145	NPBW1_HUMAN	E	20	ENSP00000330284:A20E	ENSP00000330284:A20E	A	+	2	0	NPBWR1	54015079	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-1.590000	0.02102	-0.176000	0.10707	0.650000	0.86243	GCG		PASS	0.716	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		14	28	14	28	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534012	55534012	+	Silent	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:55534012C>A	ENST00000220676.1	+	2	634	c.486C>A	c.(484-486)ggC>ggA	p.G162G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	162	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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.G162G(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)			TCAGGAATGGCGACCCGAAGA	0.667																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(484-486)GGC>GGA		retinitis pigmentosa RP1 protein							68.0	71.0	70.0					8																	55534012		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:55534012C>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.486C>A	8.37:g.55534012C>A						RP1_uc011ldy.1_Silent_p.G162G	p.G162G	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)		2	634	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	162			Doublecortin 2.			Silent	SNP	ENST00000220676.1	37	c.486C>A	CCDS6160.1																																																																																				PASS	0.667	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		37	147	37	147	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534051	55534051	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:55534051G>T	ENST00000220676.1	+	2	673	c.525G>T	c.(523-525)agG>agT	p.R175S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	175	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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.R175S(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)			TGAGCAGGAGGGTCACCCAGA	0.632																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(523-525)AGG>AGT		retinitis pigmentosa RP1 protein							109.0	110.0	110.0					8																	55534051		2203	4300	6503	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.chr8:55534051G>T	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.525G>T	8.37:g.55534051G>T	ENSP00000220676:p.Arg175Ser					RP1_uc011ldy.1_Missense_Mutation_p.R175S	p.R175S	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)		2	673	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	175			Doublecortin 2.			Missense_Mutation	SNP	ENST00000220676.1	37	c.525G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031814	0.54790	.	.	ENSG00000104237	ENST00000220676	D	0.94046	-3.34	5.14	1.38	0.22167	Doublecortin domain (5);	0.216336	0.32952	N	0.005442	D	0.92277	0.7550	M	0.73372	2.23	0.20926	N	0.999825	B	0.31752	0.338	B	0.39617	0.305	D	0.86170	0.1599	10	0.72032	D	0.01	-7.5367	9.422	0.38557	0.3859:0.0:0.6141:0.0	.	175	P56715	RP1_HUMAN	S	175	ENSP00000220676:R175S	ENSP00000220676:R175S	R	+	3	2	RP1	55696604	0.106000	0.21978	0.025000	0.17156	0.624000	0.37722	0.457000	0.21875	-0.022000	0.13986	0.650000	0.86243	AGG		PASS	0.632	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		51	222	51	222	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618581	77618581	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:77618581G>T	ENST00000521891.2	+	2	2706	c.2258G>T	c.(2257-2259)tGc>tTc	p.C753F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.C753F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.C753F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.C753F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	753					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.C753F(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)			CTCAGTGGCTGCGGAACACCC	0.527										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2257-2259)TGC>TTC		zinc finger homeodomain 4							38.0	42.0	41.0					8																	77618581		2101	4258	6359	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618581G>T		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.2258G>T	8.37:g.77618581G>T	ENSP00000430497:p.Cys753Phe	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.C753F|ZFHX4_uc003yau.1_Missense_Mutation_p.C753F|ZFHX4_uc003yaw.1_Missense_Mutation_p.C753F	p.C753F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2645	+			753					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2258G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622425	0.28889	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.1	5.1	0.69264	.	0.000000	0.48767	U	0.000175	T	0.62024	0.2394	L	0.57536	1.79	0.80722	D	1	D;D;D;P	0.76494	0.998;0.999;0.999;0.894	D;D;D;P	0.83275	0.991;0.996;0.996;0.816	T	0.56498	-0.7969	10	0.35671	T	0.21	.	19.0659	0.93110	0.0:0.0:1.0:0.0	.	753;753;753;753	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	F	753	ENSP00000430497:C753F;ENSP00000399605:C753F;ENSP00000050961:C753F;ENSP00000430848:C753F	ENSP00000050961:C753F	C	+	2	0	ZFHX4	77781136	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.804000	0.85993	2.803000	0.96430	0.650000	0.86243	TGC		PASS	0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		15	54	15	54	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885614	88885614	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:88885614C>A	ENST00000319675.3	-	1	682	c.586G>T	c.(586-588)Gcg>Tcg	p.A196S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	196								p.A196S(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGTGATACGCGTGGATGCTC	0.557																																						uc003ydz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(586-588)GCG>TCG		WD repeat domain 21C							164.0	145.0	151.0					8																	88885614		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885614C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.586G>T	8.37:g.88885614C>A	ENSP00000316496:p.Ala196Ser						p.A196S	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	683	-			196						Missense_Mutation	SNP	ENST00000319675.3	37	c.586G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989864	0.35131	.	.	ENSG00000176566	ENST00000319675	T	0.69040	-0.37	1.39	1.39	0.22231	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.277345	0.41938	D	0.000784	T	0.70386	0.3218	M	0.64997	1.995	0.09310	N	1	D	0.57257	0.979	P	0.62184	0.899	T	0.57493	-0.7802	10	0.28530	T	0.3	.	6.1055	0.20071	0.0:1.0:0.0:0.0	.	196	Q8NA75	DC4L2_HUMAN	S	196	ENSP00000316496:A196S	ENSP00000316496:A196S	A	-	1	0	DCAF4L2	88954730	1.000000	0.71417	0.001000	0.08648	0.009000	0.06853	1.688000	0.37690	0.750000	0.32877	0.467000	0.42956	GCG		PASS	0.557	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		55	212	55	212	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92998408	92998408	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:92998408C>A	ENST00000523629.1	-	9	1677	c.1223G>T	c.(1222-1224)aGt>aTt	p.S408I	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.S408I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.S371I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.S371I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.S419I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.S381I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.S371I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.S381I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	408	Poly-Ser.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S419I(1)|p.S371I(1)|p.S408I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCTGCTGCTACTGCCGCCACC	0.498																																						uc003yfd.2																			3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1222-1224)AGT>ATT		acute myelogenous leukemia 1 translocation 1							92.0	100.0	97.0					8																	92998408		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998408C>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1223G>T	8.37:g.92998408C>A	ENSP00000428543:p.Ser408Ile					RUNX1T1_uc003yfc.1_Missense_Mutation_p.S381I|RUNX1T1_uc003yfe.1_Missense_Mutation_p.S371I|RUNX1T1_uc010mao.2_Missense_Mutation_p.S381I|RUNX1T1_uc011lgi.1_Missense_Mutation_p.S419I|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.S371I	p.S408I	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		8	1307	-			408			Poly-Ser.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1223G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359953	0.41801	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.32988	1.43;1.44;1.43;1.44;1.44;1.44;1.43;1.44	5.44	5.44	0.79542	.	0.156586	0.56097	D	0.000028	T	0.27349	0.0671	L	0.44542	1.39	0.37637	D	0.921912	B;B;B	0.27823	0.001;0.19;0.001	B;B;B	0.26202	0.004;0.067;0.002	T	0.11743	-1.0575	10	0.33940	T	0.23	-1.156	13.5562	0.61761	0.0:0.926:0.0:0.074	.	419;408;381	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	I	408;381;408;371;371;371;419;381	ENSP00000428543:S408I;ENSP00000379520:S381I;ENSP00000265814:S408I;ENSP00000353504:S371I;ENSP00000390137:S371I;ENSP00000428742:S371I;ENSP00000402257:S419I;ENSP00000430728:S381I	ENSP00000265814:S408I	S	-	2	0	RUNX1T1	93067584	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	3.860000	0.55995	2.564000	0.86499	0.655000	0.94253	AGT		PASS	0.498	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		49	127	49	127	---	---	---	---
PTDSS1	9791	broad.mit.edu	37	8	97316381	97316381	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:97316381G>C	ENST00000517309.1	+	7	1192	c.866G>C	c.(865-867)gGa>gCa	p.G289A	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Missense_Mutation_p.G143A|PTDSS1_ENST00000522072.1_Missense_Mutation_p.G86A	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	289					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.G289A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGAGTAGCTGGAGTGTACCTT	0.413																																						uc003yht.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(865-867)GGA>GCA		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						185.0	185.0	185.0					8																	97316381		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97316381G>C	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.866G>C	8.37:g.97316381G>C	ENSP00000430548:p.Gly289Ala					PTDSS1_uc003yhu.1_Missense_Mutation_p.G143A	p.G289A	NM_014754	NP_055569	P48651	PTSS1_HUMAN			7	968	+	Breast(36;6.18e-05)		289			Helical; (Potential).		E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.866G>C	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	9.678	1.148503	0.21288	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.40756	1.07;1.04;1.02	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	N	0.01289	-0.905	0.80722	D	1	B	0.16166	0.016	B	0.23716	0.048	T	0.25502	-1.0130	10	0.02654	T	1	-13.8286	18.2631	0.90043	0.0:0.0:1.0:0.0	.	289	P48651	PTSS1_HUMAN	A	289;143;86	ENSP00000430548:G289A;ENSP00000401248:G143A;ENSP00000430928:G86A	ENSP00000401248:G143A	G	+	2	0	PTDSS1	97385557	1.000000	0.71417	0.966000	0.40874	0.809000	0.45718	9.821000	0.99360	2.746000	0.94184	0.655000	0.94253	GGA		PASS	0.413	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			34	456	34	456	---	---	---	---
PTDSS1	9791	broad.mit.edu	37	8	97321823	97321823	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:97321823G>A	ENST00000517309.1	+	9	1372	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	Y_RNA_ENST00000362862.1_RNA|PTDSS1_ENST00000455950.2_Missense_Mutation_p.R203H|PTDSS1_ENST00000522072.1_Missense_Mutation_p.R146H	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	349					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.R349H(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CAGTGCAAGCGCGTAGGAACA	0.428																																						uc003yht.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1045-1047)CGC>CAC		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						98.0	90.0	92.0					8																	97321823		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97321823G>A	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1046G>A	8.37:g.97321823G>A	ENSP00000430548:p.Arg349His					PTDSS1_uc003yhu.1_Missense_Mutation_p.R203H	p.R349H	NM_014754	NP_055569	P48651	PTSS1_HUMAN			9	1148	+	Breast(36;6.18e-05)		349					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1046G>A	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159996	0.94727	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.55588	0.6;0.6;0.51	5.79	5.79	0.91817	.	0.047393	0.85682	D	0.000000	T	0.77538	0.4145	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80808	-0.1217	10	0.87932	D	0	-20.6778	18.224	0.89911	0.0:0.0:1.0:0.0	.	349	P48651	PTSS1_HUMAN	H	349;203;146	ENSP00000430548:R349H;ENSP00000401248:R203H;ENSP00000430928:R146H	ENSP00000401248:R203H	R	+	2	0	PTDSS1	97390999	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.979000	0.88103	2.731000	0.93534	0.650000	0.86243	CGC		PASS	0.428	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			7	122	7	122	---	---	---	---
OSR2	116039	broad.mit.edu	37	8	99961829	99961829	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:99961829G>C	ENST00000297565.4	+	2	1145	c.649G>C	c.(649-651)Gat>Cat	p.D217H	OSR2_ENST00000523368.1_Missense_Mutation_p.D217H|OSR2_ENST00000435298.2_Missense_Mutation_p.D217H|OSR2_ENST00000522510.1_Missense_Mutation_p.D217H|OSR2_ENST00000457907.2_Missense_Mutation_p.D338H	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	217					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.D217H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TCACCTGCGGGATCACAGGTG	0.547																																						uc003yir.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(649-651)GAT>CAT		odd-skipped related 2 isoform a							51.0	56.0	54.0					8																	99961829		2171	4281	6452	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961829G>C	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.649G>C	8.37:g.99961829G>C	ENSP00000297565:p.Asp217His					OSR2_uc010mbn.2_Missense_Mutation_p.D217H|OSR2_uc003yiq.2_Missense_Mutation_p.D217H|OSR2_uc011lgx.1_Missense_Mutation_p.D338H	p.D217H	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	1184	+	Breast(36;4.14e-07)		217			C2H2-type 2.		A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.649G>C	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831478	0.91036	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951	T;T;T;T;T;T	0.52295	2.41;2.41;0.67;2.41;2.41;2.32	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	N	0.12182	0.205	0.80722	D	1	D;D;P;D	0.89917	0.997;1.0;0.948;1.0	D;D;P;D	0.97110	0.989;1.0;0.833;1.0	T	0.51276	-0.8726	9	.	.	.	-8.4966	18.1763	0.89762	0.0:0.0:1.0:0.0	.	338;217;217;217	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	H	217;217;217;217;338;270	ENSP00000430041:D217H;ENSP00000297565:D217H;ENSP00000402862:D217H;ENSP00000430780:D217H;ENSP00000414657:D338H;ENSP00000430074:D270H	.	D	+	1	0	OSR2	100031005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.722000	0.93159	0.655000	0.94253	GAT		PASS	0.547	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		42	100	42	100	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100880532	100880532	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:100880532T>C	ENST00000358544.2	+	59	11417	c.11306T>C	c.(11305-11307)aTa>aCa	p.I3769T	VPS13B_ENST00000357162.2_Missense_Mutation_p.I3744T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3769					protein transport (GO:0015031)			p.I3769T(1)|p.I3744T(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGCTGGTATAGTTGATCAG	0.478																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(11305-11307)ATA>ACA		vacuolar protein sorting 13B isoform 5							74.0	72.0	72.0					8																	100880532		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100880532T>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11306T>C	8.37:g.100880532T>C	ENSP00000351346:p.Ile3769Thr					VPS13B_uc003yiw.2_Missense_Mutation_p.I3744T	p.I3769T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		59	11417	+	Breast(36;3.73e-07)		3769					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.11306T>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172109	0.78452	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72615	-0.67;-0.67	5.83	5.83	0.93111	Autophagy-related, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84502	0.5486	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.943;0.998	D	0.86473	0.1786	10	0.87932	D	0	.	16.1968	0.82036	0.0:0.0:0.0:1.0	.	3744;3769	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	T	3744;3769	ENSP00000349685:I3744T;ENSP00000351346:I3769T	ENSP00000349685:I3744T	I	+	2	0	VPS13B	100949708	1.000000	0.71417	0.928000	0.36995	0.848000	0.48234	7.698000	0.84413	2.225000	0.72522	0.533000	0.62120	ATA		PASS	0.478	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		23	65	23	65	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113301694	113301694	+	Silent	SNP	A	A	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:113301694A>C	ENST00000297405.5	-	57	9292	c.9048T>G	c.(9046-9048)acT>acG	p.T3016T	CSMD3_ENST00000455883.2_Silent_p.T2847T|CSMD3_ENST00000343508.3_Silent_p.T2976T|CSMD3_ENST00000352409.3_Silent_p.T2946T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3016	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2976T(1)|p.T3016T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATAGTGAACAGTAGACCCAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9046-9048)ACT>ACG		CUB and Sushi multiple domains 3 isoform 1							90.0	80.0	83.0					8																	113301694		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113301694A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9048T>G	8.37:g.113301694A>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.T2218T|CSMD3_uc003ynt.2_Silent_p.T2976T|CSMD3_uc011lhx.1_Silent_p.T2847T	p.T3016T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9207	-			3016			Sushi 21.|Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9048T>G	CCDS6315.1																																																																																				PASS	0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		40	136	40	136	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113323377	113323377	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:113323377G>C	ENST00000297405.5	-	50	7959	c.7715C>G	c.(7714-7716)cCa>cGa	p.P2572R	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2468R|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2532R|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2502R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2572	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2572R(1)|p.P2532R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGGATTCTGGTGTACTACA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7714-7716)CCA>CGA		CUB and Sushi multiple domains 3 isoform 1							83.0	76.0	78.0					8																	113323377		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113323377G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7715C>G	8.37:g.113323377G>C	ENSP00000297405:p.Pro2572Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1774R|CSMD3_uc003ynt.2_Missense_Mutation_p.P2532R|CSMD3_uc011lhx.1_Missense_Mutation_p.P2468R|CSMD3_uc003ynw.1_Missense_Mutation_p.P283R	p.P2572R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			50	7874	-			2572			Extracellular (Potential).|Sushi 14.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7715C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732706	0.89482	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.94335	0.8179	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.97110	1.0;1.0;0.923	D	0.94273	0.7512	10	0.52906	T	0.07	.	19.9675	0.97275	0.0:0.0:1.0:0.0	.	2468;2572;2532	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2532;2572;1842;2468;2502	ENSP00000345799:P2532R;ENSP00000297405:P2572R;ENSP00000341558:P1842R;ENSP00000412263:P2468R;ENSP00000343124:P2502R	ENSP00000297405:P2572R	P	-	2	0	CSMD3	113392553	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.867000	0.87062	2.709000	0.92574	0.655000	0.94253	CCA		PASS	0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	152	19	152	---	---	---	---
SHARPIN	81858	broad.mit.edu	37	8	145154057	145154057	+	Missense_Mutation	SNP	C	C	T	rs61732529	byFrequency	TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr8:145154057C>T	ENST00000398712.2	-	7	1410	c.974G>A	c.(973-975)cGc>cAc	p.R325H	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	325					apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)	p.R325H(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGAAACAAGCGTCCAAGTTC	0.682													C|||	5	0.000998403	0.0038	0.0	5008	,	,		17364	0.0		0.0	False		,,,				2504	0.0					uc003zba.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(973-975)CGC>CAC		shank-interacting protein-like 1		C	HIS/ARG	1,3879		0,1,1939	21.0	23.0	22.0		974	-1.2	0.0	8	dbSNP_129	22	0,8276		0,0,4138	no	missense	SHARPIN	NM_030974.3	29	0,1,6077	TT,TC,CC		0.0,0.0258,0.0082	probably-damaging	325/388	145154057	1,12155	1940	4138	6078	SO:0001583	missense	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154057C>T	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.974G>A	8.37:g.145154057C>T	ENSP00000381698:p.Arg325His					SHARPIN_uc003zbb.2_Intron	p.R325H	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1458	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		325					A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	ENST00000398712.2	37	c.974G>A	CCDS43777.1	.	.	.	.	.	.	.	.	.	.	C	2.240	-0.374129	0.05034	2.58E-4	0.0	ENSG00000179526	ENST00000532536;ENST00000398712	T;T	0.30714	1.52;1.93	4.55	-1.22	0.09494	.	1.364230	0.04698	N	0.415302	T	0.24470	0.0593	L	0.44542	1.39	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	10	0.42905	T	0.14	.	4.4747	0.11729	0.0:0.3666:0.1816:0.4518	.	325	Q9H0F6	SHRPN_HUMAN	H	33;325	ENSP00000432355:R33H;ENSP00000381698:R325H	ENSP00000381698:R325H	R	-	2	0	SHARPIN	145226045	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.273000	0.08548	-0.095000	0.12351	-0.378000	0.06908	CGC		PASS	0.682	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		9	50	9	50	---	---	---	---
CCDC171	203238	broad.mit.edu	37	9	15920371	15920371	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:15920371A>G	ENST00000380701.3	+	25	4032	c.3704A>G	c.(3703-3705)aAa>aGa	p.K1235R	CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1235								p.K1235R(1)									GCAGCCTTGAAATCAGAACTT	0.348																																						uc003zmd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3703-3705)AAA>AGA		hypothetical protein LOC203238							127.0	109.0	115.0					9																	15920371		2203	4299	6502	SO:0001583	missense	203238							g.chr9:15920371A>G	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3704A>G	9.37:g.15920371A>G	ENSP00000370077:p.Lys1235Arg					C9orf93_uc003zme.2_Missense_Mutation_p.K1150R|C9orf93_uc011lmu.1_Missense_Mutation_p.K1243R	p.K1235R	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	25	4019	+			1235			Potential.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.3704A>G	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022764	0.54683	.	.	ENSG00000164989	ENST00000380701;ENST00000359391	T	0.23552	1.9	5.57	5.57	0.84162	.	0.334538	0.28273	N	0.015948	T	0.33876	0.0878	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.993;0.982	P;P	0.60789	0.879;0.831	T	0.10497	-1.0627	10	0.87932	D	0	-16.689	10.8031	0.46500	0.8594:0.0:0.0:0.1406	.	1243;1235	B7ZM22;Q6TFL3	.;CI093_HUMAN	R	1235;89	ENSP00000370077:K1235R	ENSP00000352352:K89R	K	+	2	0	C9orf93	15910371	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.007000	0.57093	2.122000	0.65172	0.455000	0.32223	AAA		PASS	0.348	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		57	101	57	101	---	---	---	---
FOCAD	54914	broad.mit.edu	37	9	20717842	20717842	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:20717842A>T	ENST00000380249.1	+	5	471	c.107A>T	c.(106-108)gAa>gTa	p.E36V	FOCAD_ENST00000338382.6_Missense_Mutation_p.E36V|MIR491_ENST00000384877.1_RNA	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	36						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.E36V(1)									ggtttttcAGAAAAGATTCAC	0.348																																						uc003zog.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|kidney(1)	10						c.(106-108)GAA>GTA		hypothetical protein LOC54914							135.0	128.0	130.0					9																	20717842		2203	4299	6502	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20717842A>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.107A>T	9.37:g.20717842A>T	ENSP00000369599:p.Glu36Val						p.E36V	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	5	470	+			36					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.107A>T	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.071655	0.55646	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.23552	1.9;1.9	5.83	-2.13	0.07144	Domain of unknown function DUF3730 (1);	0.232571	0.43919	D	0.000515	T	0.17534	0.0421	L	0.29908	0.895	0.36517	D	0.869963	P	0.42203	0.773	B	0.41440	0.357	T	0.06789	-1.0807	10	0.66056	D	0.02	-0.0863	10.4078	0.44274	0.5719:0.0:0.4281:0.0	.	36	Q5VW36	K1797_HUMAN	V	36	ENSP00000369599:E36V;ENSP00000344307:E36V	ENSP00000344307:E36V	E	+	2	0	KIAA1797	20707842	0.998000	0.40836	0.911000	0.35937	0.968000	0.65278	0.548000	0.23314	-0.646000	0.05452	0.459000	0.35465	GAA		PASS	0.348	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		45	74	45	74	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84608130	84608130	+	Silent	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:84608130G>T	ENST00000344803.2	+	4	2792	c.2745G>T	c.(2743-2745)ctG>ctT	p.L915L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	915					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.L915L(2)									TGAGGATGCTGTGGGGCCTTC	0.458																																						uc004amn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(2743-2745)CTG>CTT		hypothetical protein LOC389763							53.0	49.0	50.0					9																	84608130		1867	4093	5960	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84608130G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2745G>T	9.37:g.84608130G>T							p.L915L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2792	+			915						Silent	SNP	ENST00000344803.2	37	c.2745G>T	CCDS47986.1																																																																																				PASS	0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		7	110	7	110	---	---	---	---
CENPP	401541	broad.mit.edu	37	9	95094618	95094618	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:95094618G>A	ENST00000375587.3	+	2	789	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	92					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.E92K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						AACAAGCACTGAGATGACAGA	0.323																																						uc004arz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(274-276)GAG>AAG		centromere protein P							49.0	51.0	50.0					9																	95094618		2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95094618G>A	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.274G>A	9.37:g.95094618G>A	ENSP00000364737:p.Glu92Lys					CENPP_uc010mqx.2_Intron|CENPP_uc004ary.1_Missense_Mutation_p.E92K	p.E92K	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN			2	814	+			92					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.274G>A	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	G	9.337	1.062078	0.19987	.	.	ENSG00000188312	ENST00000375587	.	.	.	4.97	2.96	0.34315	.	0.287951	0.25030	N	0.033688	T	0.21550	0.0519	N	0.26042	0.785	0.18873	N	0.999985	B	0.28082	0.2	B	0.21917	0.037	T	0.14200	-1.0481	9	0.56958	D	0.05	-15.0947	6.1291	0.20195	0.1009:0.191:0.7081:0.0	.	92	Q6IPU0	CENPP_HUMAN	K	92	.	ENSP00000364737:E92K	E	+	1	0	CENPP	94134439	0.113000	0.22115	0.070000	0.20053	0.151000	0.21798	0.929000	0.28844	1.388000	0.46506	0.551000	0.68910	GAG		PASS	0.323	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		36	52	36	52	---	---	---	---
ZNF782	158431	broad.mit.edu	37	9	99581238	99581238	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:99581238T>A	ENST00000481138.1	-	6	1728	c.1067A>T	c.(1066-1068)cAt>cTt	p.H356L	ZNF782_ENST00000535338.1_Missense_Mutation_p.H224L|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	356					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.H356L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AACCTTCTGATGTACACTGAA	0.413																																						uc004awp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1066-1068)CAT>CTT		zinc finger protein 782							159.0	148.0	151.0					9																	99581238		2203	4300	6503	SO:0001583	missense	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581238T>A	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1067A>T	9.37:g.99581238T>A	ENSP00000419397:p.His356Leu					ZNF782_uc011lup.1_Missense_Mutation_p.H224L	p.H356L	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN			6	1348	-		Acute lymphoblastic leukemia(62;0.0527)	356			C2H2-type 3; degenerate.		B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	c.1067A>T	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	t	12.53	1.965826	0.34659	.	.	ENSG00000196597	ENST00000481138;ENST00000535338	T;T	0.28069	1.63;1.63	3.57	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.497890	0.15064	N	0.282581	T	0.38188	0.1031	H	0.94886	3.595	0.22500	N	0.999041	P	0.48089	0.905	B	0.36092	0.217	T	0.46261	-0.9204	10	0.87932	D	0	.	6.8968	0.24260	0.0:0.2064:0.0:0.7936	.	356	Q6ZMW2	ZN782_HUMAN	L	356;224	ENSP00000419397:H356L;ENSP00000440624:H224L	ENSP00000419397:H356L	H	-	2	0	ZNF782	98621059	0.999000	0.42202	0.022000	0.16811	0.067000	0.16453	2.594000	0.46189	0.256000	0.21614	-0.273000	0.10243	CAT		PASS	0.413	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		5	482	5	482	---	---	---	---
NIPSNAP3A	25934	broad.mit.edu	37	9	107513369	107513369	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:107513369G>C	ENST00000374767.4	+	2	298	c.193G>C	c.(193-195)Gct>Cct	p.A65P		NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	65						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A65P(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TCTTCGGACAGCTCACTCTGA	0.368																																						uc004bch.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GCT>CCT		nipsnap homolog 3A							151.0	157.0	155.0					9																	107513369		2203	4300	6503	SO:0001583	missense	25934					cytosol		g.chr9:107513369G>C	BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.193G>C	9.37:g.107513369G>C	ENSP00000363899:p.Ala65Pro					NIPSNAP3A_uc011lvt.1_Missense_Mutation_p.A65P|NIPSNAP3A_uc011lvu.1_Missense_Mutation_p.A65P	p.A65P	NM_015469	NP_056284	Q9UFN0	NPS3A_HUMAN			2	298	+			65					A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	37	c.193G>C	CCDS6760.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661302	0.67700	.	.	ENSG00000136783	ENST00000374767	T	0.56275	0.47	5.49	5.49	0.81192	Dimeric alpha-beta barrel (1);	0.046786	0.85682	D	0.000000	T	0.56337	0.1978	M	0.61703	1.905	0.58432	D	0.999998	B;B	0.19445	0.017;0.036	B;B	0.30316	0.114;0.076	T	0.51545	-0.8692	10	0.30854	T	0.27	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	65;65	B4DW81;Q9UFN0	.;NPS3A_HUMAN	P	65	ENSP00000363899:A65P	ENSP00000363899:A65P	A	+	1	0	NIPSNAP3A	106553190	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.186000	0.65082	2.583000	0.87209	0.655000	0.94253	GCT		PASS	0.368	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469		29	345	29	345	---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112172595	112172595	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:112172595C>T	ENST00000374541.2	-	15	1518	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	PTPN3_ENST00000412145.1_Missense_Mutation_p.G341S|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000446349.1_Missense_Mutation_p.G296S|PTPN3_ENST00000262539.3_Missense_Mutation_p.G318S	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	472					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.G472C(1)|p.G472S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGATCAACGCCGTCAGGTGAG	0.552																																						uc004bed.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(3)	3						c.(1414-1416)GGC>AGC		protein tyrosine phosphatase, non-receptor type							90.0	96.0	94.0					9																	112172595		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112172595C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1414G>A	9.37:g.112172595C>T	ENSP00000363667:p.Gly472Ser					PTPN3_uc004beb.2_Missense_Mutation_p.G341S|PTPN3_uc004bec.2_Missense_Mutation_p.G296S|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.G427S|PTPN3_uc011lwh.1_Missense_Mutation_p.G318S|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Missense_Mutation_p.G185S|PTPN3_uc011lwf.1_Missense_Mutation_p.G140S	p.G472S	NM_002829	NP_002820	P26045	PTN3_HUMAN			15	1526	-			472					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1414G>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297578	0.95574	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.70164	-0.33;-0.34;-0.46;-0.27	5.67	5.67	0.87782	.	0.298657	0.35466	N	0.003181	T	0.70290	0.3207	L	0.44542	1.39	0.80722	D	1	D;D;D	0.69078	0.988;0.997;0.99	B;P;P	0.53490	0.407;0.672;0.727	T	0.64101	-0.6486	10	0.19590	T	0.45	.	19.7571	0.96298	0.0:1.0:0.0:0.0	.	318;427;472	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	S	472;341;296;472;318	ENSP00000416654:G341S;ENSP00000395384:G296S;ENSP00000363667:G472S;ENSP00000262539:G318S	ENSP00000262539:G318S	G	-	1	0	PTPN3	111212416	0.985000	0.35326	0.348000	0.25681	0.903000	0.53119	3.862000	0.56009	2.668000	0.90789	0.563000	0.77884	GGC		PASS	0.552	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			26	241	26	241	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113220768	113220768	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:113220768G>T	ENST00000401783.2	-	20	3895	c.3559C>A	c.(3559-3561)Cat>Aat	p.H1187N	SVEP1_ENST00000302728.8_Missense_Mutation_p.H1187N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.H1164N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1187					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.H1187N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGATTTCATGCCTCTTTTTA	0.398																																						uc010mtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(3559-3561)CAT>AAT		polydom							51.0	50.0	50.0					9																	113220768		1861	4115	5976	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113220768G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3559C>A	9.37:g.113220768G>T	ENSP00000384917:p.His1187Asn					SVEP1_uc010mua.1_Missense_Mutation_p.H1187N	p.H1187N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			20	3896	-			1187					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3559C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	6.376	0.437422	0.12104	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.77229	-0.92;-0.92;-1.08	5.6	3.03	0.35002	.	0.058812	0.64402	D	0.000001	T	0.55321	0.1913	N	0.08118	0	0.23406	N	0.997748	B;B	0.24675	0.109;0.046	B;B	0.19666	0.026;0.026	T	0.41233	-0.9520	10	0.28530	T	0.3	.	9.3412	0.38080	0.8391:0.0:0.1609:0.0	.	1187;1187	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	N	1187;1164;1187	ENSP00000384917:H1187N;ENSP00000363593:H1164N;ENSP00000304118:H1187N	ENSP00000304118:H1187N	H	-	1	0	SVEP1	112260589	0.999000	0.42202	0.972000	0.41901	0.022000	0.10575	4.390000	0.59646	0.325000	0.23359	-0.469000	0.05056	CAT		PASS	0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	25	12	25	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119204776	119204776	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:119204776G>A	ENST00000313400.4	-	21	3654	c.3554C>T	c.(3553-3555)aCc>aTc	p.T1185I	ASTN2_ENST00000361209.2_Missense_Mutation_p.T1134I|ASTN2_ENST00000361477.3_Missense_Mutation_p.T237I|ASTN2_ENST00000373996.3_Missense_Mutation_p.T1181I|ASTN2_ENST00000288520.5_Missense_Mutation_p.T286I|ASTN2_ENST00000341734.4_Missense_Mutation_p.T237I			O75129	ASTN2_HUMAN	astrotactin 2	1185	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.T237I(1)|p.T1134I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGTCCTCAGGGTCACCGTGCT	0.507																																						uc004bjs.1																			2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(3553-3555)ACC>ATC		astrotactin 2 isoform c							206.0	172.0	183.0					9																	119204776		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119204776G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3554C>T	9.37:g.119204776G>A	ENSP00000314038:p.Thr1185Ile					ASTN2_uc004bjr.1_Missense_Mutation_p.T1181I|ASTN2_uc004bjt.1_Missense_Mutation_p.T1134I|ASTN2_uc004bjp.1_Missense_Mutation_p.T278I|ASTN2_uc004bjq.1_Missense_Mutation_p.T237I|ASTN2_uc011lxr.1_Missense_Mutation_p.T237I|ASTN2_uc011lxs.1_Missense_Mutation_p.T237I|ASTN2_uc011lxt.1_Missense_Mutation_p.T237I|ASTN2_uc004bjo.1_5'UTR	p.T1185I	NM_198187	NP_937830	O75129	ASTN2_HUMAN			21	3655	-			1185			Extracellular (Potential).|Fibronectin type-III.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3554C>T		.	.	.	.	.	.	.	.	.	.	G	11.43	1.635958	0.29068	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.43	5.43	0.79202	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.059491	0.64402	D	0.000002	T	0.30541	0.0768	N	0.19112	0.55	0.46542	D	0.999098	P;P;B;P;B;P;P	0.46512	0.879;0.879;0.264;0.728;0.383;0.879;0.879	B;B;B;B;B;B;B	0.39590	0.107;0.173;0.048;0.095;0.263;0.173;0.304	T	0.04593	-1.0940	10	0.21540	T	0.41	-25.4172	19.2689	0.94000	0.0:0.0:1.0:0.0	.	237;237;1134;1185;1181;237;286	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	I	1185;1181;286;237;908;1134;237	ENSP00000314038:T1185I;ENSP00000363108:T1181I;ENSP00000288520:T286I;ENSP00000339925:T237I;ENSP00000363098:T908I;ENSP00000354504:T1134I;ENSP00000355116:T237I	ENSP00000288520:T286I	T	-	2	0	ASTN2	118244597	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	5.425000	0.66470	2.546000	0.85860	0.655000	0.94253	ACC		PASS	0.507	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		16	232	16	232	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475354	120475354	+	Silent	SNP	G	G	T	rs150022134		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:120475354G>T	ENST00000355622.6	+	3	1049	c.948G>T	c.(946-948)gtG>gtT	p.V316V	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.V276V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	316					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.V316V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTTCCCTGGTGAGTGTGACTA	0.323																																						uc004bjz.2																			1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(946-948)GTG>GTT		toll-like receptor 4 precursor							73.0	79.0	77.0					9																	120475354		2203	4299	6502	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475354G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.948G>T	9.37:g.120475354G>T						TLR4_uc004bka.2_Silent_p.V276V|TLR4_uc004bkb.2_Silent_p.V116V	p.V316V	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1239	+			316			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.948G>T	CCDS6818.1																																																																																				PASS	0.323	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		10	251	10	251	---	---	---	---
WDR34	89891	broad.mit.edu	37	9	131396538	131396538	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:131396538G>A	ENST00000372715.2	-	8	1399	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	447			R -> Q (in SRTD11). {ECO:0000269|PubMed:24183449}.|R -> W (in SRTD11). {ECO:0000269|PubMed:24183449, ECO:0000269|PubMed:24183451}.			axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)		p.R447W(1)		central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCAAGGGCCGCACTGGGGAC	0.607																																						uc004bvq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(1339-1341)CGG>TGG		WD repeat domain 34							58.0	65.0	62.0					9																	131396538		2203	4300	6503	SO:0001583	missense	89891					cytoplasm		g.chr9:131396538G>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1339C>T	9.37:g.131396538G>A	ENSP00000361800:p.Arg447Trp					WDR34_uc004bvs.1_Missense_Mutation_p.R438W|WDR34_uc004bvr.1_Missense_Mutation_p.R419W	p.R447W	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN			8	1463	-			447			WD 4.		Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.1339C>T	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181653	0.78677	.	.	ENSG00000119333	ENST00000372715	T	0.30182	1.54	5.23	4.31	0.51392	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	0.59348	0.2187	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66925	-0.5800	10	0.87932	D	0	-2.3377	14.0304	0.64613	0.0:0.0:0.8478:0.1522	.	447	Q96EX3	WDR34_HUMAN	W	447	ENSP00000361800:R447W	ENSP00000361800:R447W	R	-	1	2	WDR34	130436359	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.151000	0.50670	1.163000	0.42636	0.561000	0.74099	CGG		PASS	0.607	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		11	143	11	143	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137655544	137655544	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr9:137655544C>T	ENST00000371817.3	+	20	2409	c.1995C>T	c.(1993-1995)gaC>gaT	p.D665D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	665	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.D665D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGCAGGGTGACGACGGAGAAG	0.592																																						uc004cfe.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1993-1995)GAC>GAT		alpha 1 type V collagen preproprotein							127.0	114.0	119.0					9																	137655544		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137655544C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1995C>T	9.37:g.137655544C>T							p.D665D	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	20	2377	+		Myeloproliferative disorder(178;0.0341)	665			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1995C>T	CCDS6982.1																																																																																				PASS	0.592	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		13	183	13	183	---	---	---	---
FBXO18	84893	broad.mit.edu	37	10	5979143	5979143	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:5979143C>A	ENST00000362091.4	+	21	3147	c.3032C>A	c.(3031-3033)gCg>gAg	p.A1011E	FBXO18_ENST00000379999.5_Missense_Mutation_p.A1062E|FBXO18_ENST00000397269.3_Missense_Mutation_p.A515E|RP11-536K7.3_ENST00000397264.4_RNA	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1011					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.A1062E(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGGCCCCTGGCGTTCCTGACA	0.622																																						uc001iis.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3031-3033)GCG>GAG		F-box only protein, helicase, 18 isoform 2							36.0	39.0	38.0					10																	5979143		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5979143C>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.3032C>A	10.37:g.5979143C>A	ENSP00000355415:p.Ala1011Glu					FBXO18_uc001iir.2_Missense_Mutation_p.A954E|FBXO18_uc009xig.2_Missense_Mutation_p.A937E|FBXO18_uc001iit.2_Missense_Mutation_p.A1062E	p.A1011E	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			21	3127	+			1011					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.3032C>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.594973	0.86953	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	5.24	5.24	0.73138	.	0.221317	0.46442	D	0.000294	T	0.59348	0.2187	N	0.24115	0.695	0.46701	D	0.999165	D;P;P	0.58620	0.983;0.95;0.95	P;P;P	0.55303	0.773;0.598;0.598	T	0.64757	-0.6332	9	0.72032	D	0.01	-10.3277	17.6739	0.88225	0.0:1.0:0.0:0.0	.	1062;1011;937	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	E	515;1011;1062	.	ENSP00000355415:A1011E	A	+	2	0	FBXO18	6019149	0.994000	0.37717	0.945000	0.38365	0.864000	0.49448	4.325000	0.59234	2.457000	0.83068	0.536000	0.68110	GCG		PASS	0.622	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		5	38	5	38	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15688894	15688894	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:15688894G>T	ENST00000378076.3	-	12	1511	c.1158C>A	c.(1156-1158)ttC>ttA	p.F386L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	386					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.F386L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TAGCACTACCGAATCTCCCAA	0.478																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(1156-1158)TTC>TTA		integrin, alpha 8 precursor							116.0	104.0	108.0					10																	15688894		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15688894G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1158C>A	10.37:g.15688894G>T	ENSP00000367316:p.Phe386Leu					ITGA8_uc010qcb.1_Missense_Mutation_p.F371L	p.F386L	NM_003638	NP_003629	P53708	ITA8_HUMAN			12	1158	-			386			Extracellular (Potential).|FG-GAP 6.		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1158C>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384242	0.42308	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.24151	1.87	5.35	-3.28	0.05033	.	0.142358	0.64402	D	0.000004	T	0.39118	0.1066	M	0.85373	2.75	0.58432	D	0.999995	D;D	0.58620	0.983;0.971	P;P	0.51487	0.671;0.47	T	0.55211	-0.8176	10	0.87932	D	0	.	12.8268	0.57725	0.6898:0.0:0.3102:0.0	.	371;386	F5H818;P53708	.;ITA8_HUMAN	L	386;371	ENSP00000367316:F386L	ENSP00000367316:F386L	F	-	3	2	ITGA8	15728900	0.360000	0.24964	0.689000	0.30133	0.272000	0.26649	-0.170000	0.09897	-0.524000	0.06400	-0.219000	0.12488	TTC		PASS	0.478	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		21	73	21	73	---	---	---	---
MRC1	4360	broad.mit.edu	37	10	17905647	17905647	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:17905647A>G	ENST00000331429.2	+	11	1841	c.1738A>G	c.(1738-1740)Atc>Gtc	p.I580V															p.I580V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGTGGACCATCGAGGAAGA	0.453																																						uc001ipk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1738-1740)ATC>GTC		mannose receptor C type 1 precursor							75.0	75.0	75.0					10																	17905647		2152	4267	6419	SO:0001583	missense	4360				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	g.chr10:17905647A>G																												ENST00000331429.2:c.1738A>G	10.37:g.17905647A>G	ENSP00000332124:p.Ile580Val						p.I580V	NM_002438	NP_002429	P22897	MRC1_HUMAN			11	1841	+			580			C-type lectin 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000331429.2	37	c.1738A>G		.	.	.	.	.	.	.	.	.	.	A	5.581	0.292012	0.10567	.	.	ENSG00000183748	ENST00000331429	T	0.53857	0.6	4.06	-0.345	0.12624	.	0.461885	0.16977	N	0.191880	T	0.32704	0.0838	.	.	.	0.22142	N	0.999334	B	0.06786	0.001	B	0.08055	0.003	T	0.26326	-1.0106	8	0.22109	T	0.4	-24.9005	7.8261	0.29315	0.6824:0.0:0.3176:0.0	.	580	B9EJA8	.	V	580	ENSP00000332124:I580V	ENSP00000332124:I580V	I	+	1	0	AL928580.1	17945653	0.063000	0.20901	0.105000	0.21289	0.896000	0.52359	2.432000	0.44784	-0.270000	0.09285	0.451000	0.29950	ATC		PASS	0.453	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			25	165	25	165	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21134270	21134270	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:21134270C>G	ENST00000377122.4	-	12	1540	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	382					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.E382Q(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTTTAATCTCCTTCTCAAAA	0.343																																						uc001iqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1144-1146)GAG>CAG		nebulette sarcomeric isoform							126.0	122.0	123.0					10																	21134270		2203	4298	6501	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21134270C>G	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1144G>C	10.37:g.21134270C>G	ENSP00000366326:p.Glu382Gln					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	p.E382Q	NM_006393	NP_006384	O76041	NEBL_HUMAN			12	1541	-			382			Nebulin 10.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1144G>C	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571902	0.28003	.	.	ENSG00000078114	ENST00000377122	T	0.46451	0.87	5.95	5.95	0.96441	.	0.633406	0.17128	N	0.185947	T	0.27454	0.0674	N	0.17082	0.46	0.80722	D	1	B	0.02656	0.0	B	0.16722	0.016	T	0.09773	-1.0659	10	0.21540	T	0.41	.	11.3105	0.49362	0.0:0.918:0.0:0.082	.	382	O76041	NEBL_HUMAN	Q	382	ENSP00000366326:E382Q	ENSP00000366326:E382Q	E	-	1	0	NEBL	21174276	0.048000	0.20356	1.000000	0.80357	0.962000	0.63368	0.854000	0.27791	2.835000	0.97688	0.650000	0.86243	GAG		PASS	0.343	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		19	104	19	104	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25701259	25701259	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:25701259G>A	ENST00000376351.3	+	4	1551	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	398					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G398S(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGCAGGGAGGGCTGCCCCTT	0.488																																						uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1192-1194)GGC>AGC		G protein-coupled receptor 158 precursor							223.0	203.0	210.0					10																	25701259		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25701259G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1192G>A	10.37:g.25701259G>A	ENSP00000365529:p.Gly398Ser						p.G398S	NM_020752	NP_065803	Q5T848	GP158_HUMAN			4	1252	+			398			Extracellular (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1192G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524125	0.96431	.	.	ENSG00000151025	ENST00000376351	T	0.79141	-1.24	6.16	6.16	0.99307	.	0.065163	0.64402	D	0.000010	D	0.89891	0.6846	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89592	0.3828	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	398	Q5T848	GP158_HUMAN	S	398	ENSP00000365529:G398S	ENSP00000365529:G398S	G	+	1	0	GPR158	25741265	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.252000	0.95491	2.937000	0.99478	0.650000	0.86243	GGC		PASS	0.488	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		48	298	48	298	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809823	31809823	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:31809823A>C	ENST00000320985.10	+	7	1670	c.1560A>C	c.(1558-1560)aaA>aaC	p.K520N	ZEB1_ENST00000361642.5_Missense_Mutation_p.K521N|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.K504N|ZEB1_ENST00000560721.2_Missense_Mutation_p.K500N|ZEB1_ENST00000542815.3_Missense_Mutation_p.K453N			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	520					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.K520N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGAAGGACAAAAGCTTTGAAG	0.368																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(1558-1560)AAA>AAC		zinc finger E-box binding homeobox 1 isoform b							60.0	71.0	67.0					10																	31809823		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809823A>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1560A>C	10.37:g.31809823A>C	ENSP00000319248:p.Lys520Asn					ZEB1_uc001ivr.3_Missense_Mutation_p.K302N|ZEB1_uc010qee.1_Missense_Mutation_p.K302N|ZEB1_uc010qef.1_Missense_Mutation_p.K302N|ZEB1_uc009xlj.1_Missense_Mutation_p.K446N|ZEB1_uc010qeg.1_Missense_Mutation_p.K379N|ZEB1_uc009xlk.1_Missense_Mutation_p.K302N|ZEB1_uc001ivt.3_Missense_Mutation_p.K302N|ZEB1_uc001ivu.3_Missense_Mutation_p.K521N|ZEB1_uc001ivv.3_Missense_Mutation_p.K500N|ZEB1_uc010qeh.1_Missense_Mutation_p.K453N|ZEB1_uc009xlo.1_Missense_Mutation_p.K503N|ZEB1_uc009xlp.2_Missense_Mutation_p.K504N	p.K520N	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	1623	+		Prostate(175;0.0156)	520					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1560A>C	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339616	0.24339	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.45	4.15	0.48705	.	0.000000	0.64402	D	0.000003	T	0.72382	0.3453	L	0.59436	1.845	0.35501	D	0.799796	B;B;B;B;B;B;B;B	0.28082	0.2;0.138;0.013;0.085;0.017;0.017;0.017;0.085	B;B;B;B;B;B;B;B	0.22601	0.034;0.04;0.006;0.012;0.008;0.009;0.008;0.012	T	0.76876	-0.2797	10	0.72032	D	0.01	-30.4986	5.0563	0.14535	0.7024:0.0:0.1471:0.1505	.	453;520;504;520;520;500;521;520	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	N	302;520;521;520;453;520;500;379;411;504	ENSP00000444282:K302N;ENSP00000354487:K521N;ENSP00000444891:K453N;ENSP00000319248:K520N;ENSP00000391612:K504N	ENSP00000319248:K520N	K	+	3	2	ZEB1	31849829	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.802000	0.27069	2.201000	0.70794	0.533000	0.62120	AAA		PASS	0.368	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		23	168	23	168	---	---	---	---
MARCH8	220972	broad.mit.edu	37	10	45953836	45953836	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:45953836C>A	ENST00000319836.3	-	7	1476	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	MARCH8_ENST00000395769.2_Nonsense_Mutation_p.E243*|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000453424.2_Nonsense_Mutation_p.E525*|MARCH8_ENST00000395771.3_Nonsense_Mutation_p.E243*	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	243					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E243*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TTGCTTGTTTCTGGACAGTTT	0.358																																					NSCLC(102;658 1594 2173 16344 34808)	uc001jci.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(727-729)GAA>TAA		cellular modulator of immune recognition isoform							142.0	148.0	146.0					10																	45953836		2203	4300	6503	SO:0001587	stop_gained	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45953836C>A	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.727G>T	10.37:g.45953836C>A	ENSP00000317087:p.Glu243*					MARCH8_uc001jch.2_Nonsense_Mutation_p.E525*|MARCH8_uc001jcj.1_Nonsense_Mutation_p.E243*|MARCH8_uc001jck.1_Nonsense_Mutation_p.E243*|uc001jcf.2_5'Flank|MARCH8_uc001jcg.1_Nonsense_Mutation_p.E112*	p.E243*	NM_001002266	NP_001002266	Q5T0T0	MARH8_HUMAN			7	966	-			243					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Nonsense_Mutation	SNP	ENST00000319836.3	37	c.727G>T	CCDS7213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	43|43	10.095330|10.095330	0.99336|0.99336	.|.	.|.	ENSG00000165406|ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769|ENST00000453424	.|.	.|.	.|.	5.67|5.67	3.82|3.82	0.43975|0.43975	.|.	0.154190|.	0.64402|.	D|.	0.000018|.	.|T	.|0.61874	.|0.2382	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57957	.|-0.7721	.|4	0.19147|.	T|.	0.46|.	-15.2494|-15.2494	11.0816|11.0816	0.48064|0.48064	0.1456:0.7146:0.1398:0.0|0.1456:0.7146:0.1398:0.0	.|.	.|.	.|.	.|.	X|I	243|407	.|.	ENSP00000317087:E243X|.	E|R	-|-	1|2	0|0	MARCH8|MARCH8	45273842|45273842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.094000|6.094000	0.71431|0.71431	0.760000|0.760000	0.33108|0.33108	-0.121000|-0.121000	0.15023|0.15023	GAA|AGA		PASS	0.358	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		31	249	31	249	---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50819838	50819838	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:50819838G>T	ENST00000374115.3	+	1	1492	c.1052G>T	c.(1051-1053)cGc>cTc	p.R351L	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	351					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.R351L(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTGGCGGCGCGCTACCCACAC	0.697																																						uc001jhw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1051-1053)CGC>CTC		vesicular acetylcholine transporter							54.0	55.0	55.0					10																	50819838		2203	4297	6500	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819838G>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1052G>T	10.37:g.50819838G>T	ENSP00000363229:p.Arg351Leu					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.R351L	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1492	+			351			Cytoplasmic (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1052G>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792871	0.70452	.	.	ENSG00000187714	ENST00000374115	T	0.65178	-0.14	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.337670	0.27198	U	0.020476	T	0.64789	0.2630	M	0.75085	2.285	0.33074	D	0.535756	B	0.34264	0.446	B	0.42386	0.386	T	0.75878	-0.3162	10	0.72032	D	0.01	0.7378	5.9701	0.19346	0.1636:0.1785:0.6579:0.0	.	351	Q16572	VACHT_HUMAN	L	351	ENSP00000363229:R351L	ENSP00000363229:R351L	R	+	2	0	SLC18A3	50489844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.130000	0.64745	2.412000	0.81896	0.561000	0.74099	CGC		PASS	0.697	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		9	108	9	108	---	---	---	---
ASAH2	56624	broad.mit.edu	37	10	52005028	52005028	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:52005028C>A	ENST00000395526.4	-	2	313	c.314G>T	c.(313-315)gGt>gTt	p.G105V	ASAH2_ENST00000329428.6_Missense_Mutation_p.G86V|ASAH2_ENST00000447815.1_Missense_Mutation_p.G105V	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	105					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)	p.G105V(1)|p.G86V(1)		large_intestine(1)|lung(9)|urinary_tract(1)	11						TCGTCCAACACCAATATGGTA	0.453																																						uc001jjd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(313-315)GGT>GTT		N-acylsphingosine amidohydrolase 2 isoform a							177.0	184.0	182.0					10																	52005028		2203	4300	6503	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:52005028C>A	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.314G>T	10.37:g.52005028C>A	ENSP00000378897:p.Gly105Val					ASAH2_uc009xos.2_Missense_Mutation_p.G105V	p.G105V	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN			2	314	-			105			Lumenal (Potential).		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.314G>T	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600373	0.87055	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.78595	-1.19;-1.19;-1.19	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94174	0.7426	10	0.87932	D	0	.	17.2595	0.87066	0.0:1.0:0.0:0.0	.	105;105	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	V	105;105;86	ENSP00000378897:G105V;ENSP00000388206:G105V;ENSP00000329886:G86V	ENSP00000329886:G86V	G	-	2	0	ASAH2	51675034	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.897000	0.75671	2.649000	0.89929	0.655000	0.94253	GGT		PASS	0.453	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		21	256	21	256	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61830845	61830845	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:61830845A>G	ENST00000280772.2	-	37	9985	c.9794T>C	c.(9793-9795)aTt>aCt	p.I3265T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3265					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.I3265T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATCTGACTCAATCTGGTCCGC	0.438																																						uc001jky.2																			1	Substitution - Missense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(9793-9795)ATT>ACT		ankyrin 3 isoform 1							182.0	175.0	177.0					10																	61830845		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830845A>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9794T>C	10.37:g.61830845A>G	ENSP00000280772:p.Ile3265Thr					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.I3265T	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	9986	-			3265					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.9794T>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	0.734	-0.778773	0.02929	.	.	ENSG00000151150	ENST00000280772	T	0.61980	0.06	5.48	3.13	0.36017	.	0.859843	0.09910	N	0.739915	T	0.28732	0.0712	N	0.01874	-0.695	0.20307	N	0.999912	B	0.02656	0.0	B	0.01281	0.0	T	0.29610	-1.0006	10	0.08381	T	0.77	.	4.3658	0.11223	0.3432:0.3803:0.2765:0.0	.	3265	Q12955	ANK3_HUMAN	T	3265	ENSP00000280772:I3265T	ENSP00000280772:I3265T	I	-	2	0	ANK3	61500851	0.461000	0.25783	0.995000	0.50966	0.913000	0.54294	2.144000	0.42197	0.919000	0.36945	0.459000	0.35465	ATT		PASS	0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		86	333	86	333	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573941	64573941	+	Missense_Mutation	SNP	T	T	C	rs202183386		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:64573941T>C	ENST00000242480.3	-	2	782	c.457A>G	c.(457-459)Acc>Gcc	p.T153A	EGR2_ENST00000439032.1_Missense_Mutation_p.T153A|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Missense_Mutation_p.T103A	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	153					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.T153A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGGACATGGTGCACACACCC	0.622																																						uc010qim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(457-459)ACC>GCC		early growth response 2 protein isoform a							124.0	116.0	118.0					10																	64573941		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573941T>C	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.457A>G	10.37:g.64573941T>C	ENSP00000242480:p.Thr153Ala					EGR2_uc010qin.1_Missense_Mutation_p.T103A|EGR2_uc001jmi.2_Missense_Mutation_p.T153A|EGR2_uc010qio.1_Missense_Mutation_p.T166A|EGR2_uc009xph.2_Missense_Mutation_p.T153A	p.T153A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			3	611	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		153					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.457A>G	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740564	0.69304	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732;ENST00000432380	T;T;T	0.21734	1.99;1.99;1.99	5.01	3.87	0.44632	.	0.076847	0.52532	D	0.000062	T	0.18676	0.0448	L	0.47716	1.5	0.48087	D	0.99958	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.004	T	0.03503	-1.1030	10	0.32370	T	0.25	-21.652	10.5399	0.45026	0.0:0.077:0.0:0.923	.	103;153	P11161-2;P11161	.;EGR2_HUMAN	A	153;153;103;166	ENSP00000242480:T153A;ENSP00000402040:T153A;ENSP00000387634:T103A	ENSP00000242480:T153A	T	-	1	0	EGR2	64243947	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.068000	0.41471	0.919000	0.36945	0.455000	0.32223	ACC		PASS	0.622	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		33	111	33	111	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64974581	64974581	+	Missense_Mutation	SNP	C	C	T	rs562218545		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:64974581C>T	ENST00000399262.2	-	8	1564	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	JMJD1C_ENST00000399251.1_Missense_Mutation_p.R230Q|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R267Q|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R230Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	449					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.R230Q(1)|p.R449Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AACAGACTTCCGCTTCTCTGC	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17887	0.0		0.0	False		,,,				2504	0.0					uc001jmn.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1345-1347)CGG>CAG		jumonji domain containing 1C isoform a							159.0	141.0	147.0					10																	64974581		1840	4087	5927	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64974581C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1346G>A	10.37:g.64974581C>T	ENSP00000382204:p.Arg449Gln					JMJD1C_uc001jml.2_Missense_Mutation_p.R230Q|JMJD1C_uc001jmm.2_Missense_Mutation_p.R161Q|JMJD1C_uc010qiq.1_Missense_Mutation_p.R267Q|JMJD1C_uc009xpi.2_Missense_Mutation_p.R267Q|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.R161Q	p.R449Q	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			8	1646	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		449					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.1346G>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	7.766	0.706325	0.15239	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.52295	1.01;0.67;2.6;1.01	5.85	-1.68	0.08212	.	1.166780	0.06427	N	0.723412	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12553	-1.0543	10	0.13470	T	0.59	5.2386	0.9464	0.01366	0.4153:0.1093:0.1559:0.3195	.	449;267	Q15652;A0T124	JHD2C_HUMAN;.	Q	449;230;230;267	ENSP00000382204:R449Q;ENSP00000384990:R230Q;ENSP00000382195:R230Q;ENSP00000444682:R267Q	ENSP00000382195:R230Q	R	-	2	0	JMJD1C	64644587	0.000000	0.05858	0.001000	0.08648	0.968000	0.65278	-0.329000	0.07935	-0.552000	0.06167	-0.254000	0.11334	CGG		PASS	0.398	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		5	292	5	292	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	67863009	67863009	+	Splice_Site	SNP	T	T	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:67863009T>G	ENST00000433211.2	-	14	2059		c.e14-2		RP11-210G22.1_ENST00000608793.1_RNA|CTNNA3_ENST00000373744.4_Splice_Site	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.?(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTGGGGTCTATAAAAAGAA	0.428																																						uc009xpn.1																			2	Unknown(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.e14-1		catenin, alpha 3							97.0	81.0	87.0					10																	67863009		2203	4300	6503	SO:0001630	splice_region_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67863009T>G	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1885-2A>C	10.37:g.67863009T>G						CTNNA3_uc001jmw.2_Splice_Site_p.T629_splice	p.T629_splice	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			14	2008	-									Splice_Site	SNP	ENST00000433211.2	37	c.1885_splice	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833161	0.71258	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2238	0.54449	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNA3	67533015	1.000000	0.71417	0.928000	0.36995	0.802000	0.45316	4.949000	0.63596	2.192000	0.70111	0.533000	0.62120	.		PASS	0.428	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	Intron	23	72	23	72	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68687148	68687148	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:68687148G>T	ENST00000361320.4	+	2	1052	c.474G>T	c.(472-474)aaG>aaT	p.K158N	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	158					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.K158N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCTTGCGGAAGCTGCTGAGTT	0.463																																						uc001jmz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(472-474)AAG>AAT		leucine rich repeat transmembrane neuronal 3							96.0	103.0	100.0					10																	68687148		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687148G>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.474G>T	10.37:g.68687148G>T	ENSP00000355187:p.Lys158Asn					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.K158N	p.K158N	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1024	+			158			Extracellular (Potential).|LRR 5.		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.474G>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259997	0.39995	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.03860	3.78	5.42	3.52	0.40303	.	0.084537	0.50627	D	0.000102	T	0.07593	0.0191	N	0.05467	-0.045	0.50313	D	0.99986	D;D	0.89917	1.0;0.972	D;D	0.87578	0.998;0.96	T	0.44967	-0.9293	10	0.45353	T	0.12	.	10.1447	0.42755	0.1714:0.0:0.8286:0.0	.	158;158	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	N	158	ENSP00000355187:K158N	ENSP00000355187:K158N	K	+	3	2	LRRTM3	68357154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.038000	0.57318	0.613000	0.30089	0.650000	0.86243	AAG		PASS	0.463	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		71	199	71	199	---	---	---	---
HK1	3098	broad.mit.edu	37	10	71158372	71158372	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:71158372G>A	ENST00000359426.6	+	17	2501	c.2397G>A	c.(2395-2397)caG>caA	p.Q799Q	HK1_ENST00000360289.2_Silent_p.Q787Q|HK1_ENST00000298649.3_Silent_p.Q798Q|HK1_ENST00000448642.2_Silent_p.Q834Q|HK1_ENST00000404387.2_Silent_p.Q803Q	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	799	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.Q803Q(1)|p.Q798Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CACTGCTCCAGGTCCGGGCTA	0.612																																						uc001jpl.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2395-2397)CAG>CAA		hexokinase 1 isoform HKI							45.0	39.0	41.0					10																	71158372		2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71158372G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2397G>A	10.37:g.71158372G>A						HK1_uc001jpg.3_Silent_p.Q787Q|HK1_uc001jph.3_Silent_p.Q803Q|HK1_uc001jpi.3_Silent_p.Q803Q|HK1_uc001jpj.3_Silent_p.Q834Q|HK1_uc001jpk.3_Silent_p.Q798Q	p.Q799Q	NM_000188	NP_000179	P19367	HXK1_HUMAN			17	2498	+			799			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	c.2397G>A	CCDS7292.1																																																																																				PASS	0.612	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		11	34	11	34	---	---	---	---
NDUFB8	4714	broad.mit.edu	37	10	102289241	102289241	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:102289241C>A	ENST00000299166.4	-	2	120	c.108G>T	c.(106-108)atG>atT	p.M36I	NDUFB8_ENST00000370322.1_Missense_Mutation_p.M5I|SEC31B_ENST00000535773.1_5'UTR|NDUFB8_ENST00000557395.1_Missense_Mutation_p.M36I|NDUFB8_ENST00000531258.1_Missense_Mutation_p.M36I|NDUFB8_ENST00000370320.4_Missense_Mutation_p.M36I	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	36					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.M36I(1)		endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		GCCCCGGGAACATGTCCTTGG	0.592																																						uc001kri.1																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)ATG>ATT		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						57.0	57.0	57.0					10																	102289241		2203	4300	6503	SO:0001583	missense	4714				mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr10:102289241C>A	AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136		"""Mitochondrial respiratory chain complex / Complex I"""	7703	protein-coding gene	gene with protein product	"""complex I ASHI subunit"""	602140	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)"""			9763676	Standard	NM_001284368		Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000299166.4:c.108G>T	10.37:g.102289241C>A	ENSP00000299166:p.Met36Ile					SEC31B_uc009xwo.1_5'UTR|SEC31B_uc010qpq.1_5'UTR|SEC31B_uc010qpr.1_RNA	p.M36I	NM_005004	NP_004995	O95169	NDUB8_HUMAN		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	2	136	-		Colorectal(252;0.234)	36					A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Missense_Mutation	SNP	ENST00000299166.4	37	c.108G>T	CCDS7497.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244292	0.22796	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370322;ENST00000370320	.	.	.	5.3	5.3	0.74995	.	0.493749	0.23560	N	0.046863	T	0.66809	0.2827	M	0.72894	2.215	0.80722	D	1	B	0.23891	0.093	B	0.23716	0.048	T	0.63070	-0.6719	9	0.24483	T	0.36	-17.4417	17.1357	0.86739	0.0:1.0:0.0:0.0	.	36	O95169	NDUB8_HUMAN	I	36;36;5;36	.	ENSP00000299166:M36I	M	-	3	0	NDUFB8	102279231	0.998000	0.40836	1.000000	0.80357	0.282000	0.26991	1.372000	0.34261	2.471000	0.83476	0.462000	0.41574	ATG		PASS	0.592	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051225.1	NM_005004		13	81	13	81	---	---	---	---
NFKB2	4791	broad.mit.edu	37	10	104161252	104161252	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:104161252C>T	ENST00000369966.3	+	20	2520	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	NFKB2_ENST00000428099.1_Missense_Mutation_p.P757L|NFKB2_ENST00000189444.6_Missense_Mutation_p.P757L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	757			Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P757L(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	ATGGAGCCACCCCTGACCCCG	0.592			T	IGH@	B-NHL																																	uc001kvb.2				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(2269-2271)CCC>CTC		nuclear factor of kappa light polypeptide gene							55.0	65.0	62.0					10																	104161252		2106	4214	6320	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104161252C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2270C>T	10.37:g.104161252C>T	ENSP00000358983:p.Pro757Leu					NFKB2_uc001kva.2_Missense_Mutation_p.P757L|NFKB2_uc001kvd.2_Missense_Mutation_p.P757L|NFKB2_uc009xxc.2_Missense_Mutation_p.P757L	p.P757L	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	20	2535	+		Colorectal(252;0.00957)	757		Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).	ANK 7.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.2270C>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	c	8.969	0.972587	0.18736	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.38722	1.12;1.13;1.12	3.89	3.89	0.44902	.	0.231324	0.34700	N	0.003748	T	0.43787	0.1263	L	0.50333	1.59	0.09310	N	1	P;P	0.51791	0.948;0.948	P;P	0.51324	0.666;0.666	T	0.31943	-0.9925	10	0.54805	T	0.06	.	7.5989	0.28065	0.0:0.8843:0.0:0.1157	.	757;757	Q00653;A8K9D9	NFKB2_HUMAN;.	L	757	ENSP00000410256:P757L;ENSP00000358983:P757L;ENSP00000189444:P757L	ENSP00000189444:P757L	P	+	2	0	NFKB2	104151242	0.002000	0.14202	0.052000	0.19188	0.014000	0.08584	0.971000	0.29396	2.163000	0.67991	0.556000	0.70494	CCC		PASS	0.592	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			9	71	9	71	---	---	---	---
SLC18A2	6571	broad.mit.edu	37	10	119013575	119013575	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:119013575C>A	ENST00000298472.5	+	5	683	c.540C>A	c.(538-540)agC>agA	p.S180R	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	180					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)	p.S180R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTTCTCCAGCAGCTATGCCT	0.597																																						uc001ldd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)AGC>AGA		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						152.0	135.0	141.0					10																	119013575		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119013575C>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.540C>A	10.37:g.119013575C>A	ENSP00000298472:p.Ser180Arg					SLC18A2_uc009xyy.1_5'UTR	p.S180R	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	5	571	+		Colorectal(252;0.19)	180			Helical; (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.540C>A	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	5.841	0.339385	0.11069	.	.	ENSG00000165646	ENST00000298472	T	0.60171	0.21	5.94	1.88	0.25563	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.483439	0.26289	N	0.025239	T	0.31389	0.0795	N	0.20807	0.61	0.28100	N	0.931444	B	0.02656	0.0	B	0.08055	0.003	T	0.10382	-1.0632	10	0.09843	T	0.71	-4.8251	3.8016	0.08760	0.2311:0.3556:0.3335:0.0798	.	180	Q05940	VMAT2_HUMAN	R	180	ENSP00000298472:S180R	ENSP00000298472:S180R	S	+	3	2	SLC18A2	119003565	0.845000	0.29573	1.000000	0.80357	0.988000	0.76386	0.271000	0.18626	0.834000	0.34852	-0.244000	0.11960	AGC		PASS	0.597	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		30	268	30	268	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127708298	127708298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr10:127708298G>A	ENST00000368679.4	-	22	2944	c.2635C>T	c.(2635-2637)Caa>Taa	p.Q879*		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	879					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.Q879*(2)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCTCCCATTGTCCTGGGGTC	0.582																																						uc001ljk.2																			2	Substitution - Nonsense(2)		lung(2)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(2635-2637)CAA>TAA		ADAM metallopeptidase domain 12 isoform 1							65.0	65.0	65.0					10																	127708298		2203	4300	6503	SO:0001587	stop_gained	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127708298G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2635C>T	10.37:g.127708298G>A	ENSP00000357668:p.Gln879*					ADAM12_uc010qul.1_Nonsense_Mutation_p.Q830*	p.Q879*	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	22	3048	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	879			Cytoplasmic (Potential).		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Nonsense_Mutation	SNP	ENST00000368679.4	37	c.2635C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	38	7.155169	0.98099	.	.	ENSG00000148848	ENST00000368679	.	.	.	5.23	3.2	0.36748	.	0.348277	0.25529	N	0.030045	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	8.9554	0.35814	0.0:0.1621:0.6702:0.1677	.	.	.	.	X	879	.	ENSP00000357668:Q879X	Q	-	1	0	ADAM12	127698288	0.117000	0.22190	0.004000	0.12327	0.007000	0.05969	3.137000	0.50562	1.147000	0.42369	0.650000	0.86243	CAA		PASS	0.582	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			17	114	17	114	---	---	---	---
RNH1	6050	broad.mit.edu	37	11	499054	499054	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:499054T>C	ENST00000534797.1	-	4	1982	c.575A>G	c.(574-576)cAg>cGg	p.Q192R	RNH1_ENST00000397604.3_Missense_Mutation_p.Q192R|RNH1_ENST00000397614.1_Missense_Mutation_p.Q192R|RNH1_ENST00000356187.5_Missense_Mutation_p.Q192R|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000397615.2_Missense_Mutation_p.Q192R|RNH1_ENST00000438658.2_Missense_Mutation_p.Q192R|RNH1_ENST00000354420.2_Missense_Mutation_p.Q192R|RNH1_ENST00000533410.1_Missense_Mutation_p.Q192R			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.Q192R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCAGGCCCTGGCACAGCAC	0.672																																						uc001lpk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)CAG>CGG		ribonuclease/angiogenin inhibitor							55.0	43.0	47.0					11																	499054		2203	4299	6502	SO:0001583	missense	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:499054T>C		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.575A>G	11.37:g.499054T>C	ENSP00000433999:p.Gln192Arg					RNH1_uc001lpl.1_Missense_Mutation_p.Q192R|RNH1_uc001lpm.1_Missense_Mutation_p.Q192R|RNH1_uc001lpn.1_Missense_Mutation_p.Q192R|RNH1_uc001lpo.1_Missense_Mutation_p.Q192R|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.Q192R|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.Q192R|RNH1_uc001lpr.1_Missense_Mutation_p.Q192R|RNH1_uc001lps.1_Missense_Mutation_p.Q192R	p.Q192R	NM_203389	NP_976323	P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1983	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	192			LRR 7.		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	c.575A>G	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	T	8.445	0.851634	0.17034	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187;ENST00000527485;ENST00000529368	T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	3.7	-6.39	0.01951	.	0.987702	0.08227	N	0.978133	T	0.27098	0.0664	N	0.13235	0.315	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22521	-1.0214	10	0.41790	T	0.15	.	11.4203	0.49978	0.0:0.4832:0.0:0.5168	.	192	P13489	RINI_HUMAN	R	192	ENSP00000433999:Q192R;ENSP00000380738:Q192R;ENSP00000380739:Q192R;ENSP00000380729:Q192R;ENSP00000435594:Q192R;ENSP00000416589:Q192R;ENSP00000346402:Q192R;ENSP00000348515:Q192R;ENSP00000435748:Q192R;ENSP00000435057:Q192R	ENSP00000346402:Q192R	Q	-	2	0	RNH1	489054	0.000000	0.05858	0.014000	0.15608	0.062000	0.15995	-1.717000	0.01876	-1.466000	0.01897	0.391000	0.25812	CAG		PASS	0.672	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		14	63	14	63	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1018740	1018740	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:1018740G>T	ENST00000421673.2	-	31	4111	c.4061C>A	c.(4060-4062)aCa>aAa	p.T1354K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1354	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1354K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGCCGTTGTTCCTGGCAG	0.582																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4060-4062)ACA>AAA		mucin 6, gastric							187.0	196.0	193.0					11																	1018740		2185	4282	6467	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018740G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4061C>A	11.37:g.1018740G>T	ENSP00000406861:p.Thr1354Lys						p.T1354K	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4112	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1354			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.4061C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.288855	0.23478	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	1.11	1.11	0.20524	.	.	.	.	.	T	0.11495	0.0280	N	0.24115	0.695	0.09310	N	1	D	0.59357	0.985	P	0.45538	0.484	T	0.08932	-1.0698	9	0.09338	T	0.73	.	3.3965	0.07308	0.2719:0.0:0.7281:0.0	.	1354	Q6W4X9	MUC6_HUMAN	K	1354	ENSP00000406861:T1354K	ENSP00000406861:T1354K	T	-	2	0	MUC6	1008740	0.000000	0.05858	0.005000	0.12908	0.273000	0.26683	0.593000	0.23999	0.938000	0.37419	0.305000	0.20034	ACA		PASS	0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		37	166	37	166	---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142454	5142454	+	RNA	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:5142454G>A	ENST00000498233.1	-	0	944							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L119L(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATGGCTAGCAGGACTCCTGAT	0.443																																						uc001lzz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(355-357)CTG>TTG		olfactory receptor, family 52, subfamily A,							61.0	54.0	56.0					11																	5142454		2201	4298	6499			390053							g.chr11:5142454G>A			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142454G>A						OR52A4_uc001maa.2_RNA	p.L119L	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	355	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Silent	SNP	ENST00000498233.1	37	c.355C>T																																																																																					PASS	0.443	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		8	53	8	53	---	---	---	---
OR51V1	283111	broad.mit.edu	37	11	5221405	5221405	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:5221405T>G	ENST00000321255.1	-	1	525	c.526A>C	c.(526-528)Aat>Cat	p.N176H		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	176					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.N176H(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACAGTAATTAAAAAATTTC	0.398																																						uc010qyz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(526-528)AAT>CAT		olfactory receptor, family 51, subfamily V,							45.0	49.0	48.0					11																	5221405		2201	4296	6497	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221405T>G	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.526A>C	11.37:g.5221405T>G	ENSP00000321729:p.Asn176His						p.N176H	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	526	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	176			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321255.1	37	c.526A>C	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	T	0.841	-0.742033	0.03088	.	.	ENSG00000176742	ENST00000321255	T	0.36699	1.24	5.27	-10.5	0.00291	GPCR, rhodopsin-like superfamily (1);	1.191220	0.06078	N	0.661319	T	0.19208	0.0461	N	0.05534	-0.03	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.40757	-0.9546	10	0.33940	T	0.23	.	18.1665	0.89729	0.0545:0.0:0.1233:0.8222	.	176	Q9H2C8	O51V1_HUMAN	H	176	ENSP00000321729:N176H	ENSP00000321729:N176H	N	-	1	0	OR51V1	5177981	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.557000	0.05985	-2.800000	0.00352	-1.151000	0.01829	AAT		PASS	0.398	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		18	135	18	135	---	---	---	---
ZNF143	7702	broad.mit.edu	37	11	9530358	9530358	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:9530358A>C	ENST00000396602.2	+	12	1459	c.1340A>C	c.(1339-1341)gAg>gCg	p.E447A	ZNF143_ENST00000396597.3_Missense_Mutation_p.E416A|ZNF143_ENST00000396604.1_Missense_Mutation_p.E446A|ZNF143_ENST00000530463.1_Missense_Mutation_p.E446A|ZNF143_ENST00000299606.2_Missense_Mutation_p.E419A	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	447					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E447A(1)		endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GAGCCCATCGAGGAGGAGCAG	0.468																																						uc001mhr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1339-1341)GAG>GCG		zinc finger protein 143							91.0	83.0	86.0					11																	9530358		2201	4293	6494	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9530358A>C	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1340A>C	11.37:g.9530358A>C	ENSP00000379847:p.Glu447Ala					ZNF143_uc009yfu.2_Missense_Mutation_p.E446A|ZNF143_uc010rby.1_Missense_Mutation_p.E416A	p.E447A	NM_003442	NP_003433	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	12	1458	+			447					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.1340A>C	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753063	0.89753	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.11277	2.79;2.8;2.79;2.84;2.85	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	L	0.27053	0.805	0.80722	D	1	D;P;P	0.56035	0.974;0.956;0.956	D;D;D	0.70487	0.969;0.931;0.931	T	0.01608	-1.1313	10	0.87932	D	0	.	15.8239	0.78683	1.0:0.0:0.0:0.0	.	416;446;447	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	A	446;447;446;416;419	ENSP00000379849:E446A;ENSP00000379847:E447A;ENSP00000432154:E446A;ENSP00000379843:E416A;ENSP00000299606:E419A	ENSP00000299606:E419A	E	+	2	0	ZNF143	9486934	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.265000	0.95647	2.135000	0.66039	0.533000	0.62120	GAG		PASS	0.468	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		5	24	5	24	---	---	---	---
NUCB2	4925	broad.mit.edu	37	11	17332406	17332406	+	Missense_Mutation	SNP	G	G	A	rs377718768		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:17332406G>A	ENST00000529010.1	+	7	737	c.518G>A	c.(517-519)cGt>cAt	p.R173H	NUCB2_ENST00000323688.6_Missense_Mutation_p.R173H|NUCB2_ENST00000458064.2_Missense_Mutation_p.R173H	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	173						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.R173H(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GACAAGACTCGTCATGAAGAA	0.279																																						uc001mmw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)CGT>CAT		nucleobindin 2 precursor		G	HIS/ARG	0,3614		0,0,1807	67.0	66.0	67.0		518	5.8	0.8	11		67	1,8079		0,1,4039	no	missense	NUCB2	NM_005013.2	29	0,1,5846	AA,AG,GG		0.0124,0.0,0.0086	probably-damaging	173/421	17332406	1,11693	1807	4040	5847	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17332406G>A	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.518G>A	11.37:g.17332406G>A	ENSP00000436455:p.Arg173His					NUCB2_uc001mms.1_Missense_Mutation_p.R174H|NUCB2_uc001mmt.1_Missense_Mutation_p.R173H|NUCB2_uc001mmv.1_Missense_Mutation_p.R173H|NUCB2_uc009ygz.2_Missense_Mutation_p.R173H	p.R173H	NM_005013	NP_005004	P80303	NUCB2_HUMAN			7	763	+			173			By similarity.		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.518G>A	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732217	0.89482	0.0	1.24E-4	ENSG00000070081	ENST00000530527;ENST00000323688;ENST00000529010;ENST00000529313;ENST00000458064	T;T;T	0.33216	1.42;1.42;1.5	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.38672	-0.9650	10	0.38643	T	0.18	-10.894	20.1111	0.97911	0.0:0.0:1.0:0.0	.	173;173;173	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	H	173	ENSP00000320168:R173H;ENSP00000436455:R173H;ENSP00000408702:R173H	ENSP00000320168:R173H	R	+	2	0	NUCB2	17288982	1.000000	0.71417	0.821000	0.32701	0.901000	0.52897	9.852000	0.99516	2.741000	0.93983	0.655000	0.94253	CGT		PASS	0.279	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		7	296	7	296	---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45672017	45672017	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:45672017G>A	ENST00000308064.2	-	4	1127	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	153					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.R153C(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCCCGCGGCGGAAGATCCTG	0.692																																						uc001mys.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|pancreas(1)	5						c.(457-459)CGC>TGC		carbohydrate (keratan sulfate Gal-6)							31.0	38.0	36.0					11																	45672017		2200	4293	6493	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45672017G>A	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.457C>T	11.37:g.45672017G>A	ENSP00000309270:p.Arg153Cys						p.R153C	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1128	-			153			Lumenal (Potential).		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.457C>T	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655904	0.67586	.	.	ENSG00000175264	ENST00000308064	D	0.96716	-4.1	4.98	4.01	0.46588	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98070	1.0398	10	0.72032	D	0.01	-16.6382	12.1335	0.53957	0.0:0.0:0.6993:0.3007	.	153	O43916	CHST1_HUMAN	C	153	ENSP00000309270:R153C	ENSP00000309270:R153C	R	-	1	0	CHST1	45628593	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.550000	0.73905	2.310000	0.77875	0.462000	0.41574	CGC		PASS	0.692	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		10	30	10	30	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003175	50003175	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:50003175C>T	ENST00000335238.4	-	1	896	c.863G>A	c.(862-864)aGa>aAa	p.R288K		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R288K(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTCAGCATTTCTGAGTGTGTA	0.393																																						uc010ria.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(862-864)AGA>AAA		olfactory receptor, family 4, subfamily C,							65.0	60.0	62.0					11																	50003175		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003175C>T	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.863G>A	11.37:g.50003175C>T	ENSP00000334418:p.Arg288Lys						p.R288K	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	863	-			288			Cytoplasmic (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.863G>A	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.024056	0.54683	.	.	ENSG00000221954	ENST00000335238	T	0.39997	1.05	2.98	2.98	0.34508	.	0.000000	0.46145	U	0.000315	T	0.33177	0.0854	L	0.37750	1.13	0.23862	N	0.996631	P	0.45957	0.869	P	0.45037	0.467	T	0.16630	-1.0396	10	0.62326	D	0.03	.	6.1753	0.20441	0.0:0.8563:0.0:0.1437	.	288	Q96R67	OR4CC_HUMAN	K	288	ENSP00000334418:R288K	ENSP00000334418:R288K	R	-	2	0	OR4C12	49959751	0.861000	0.29849	0.596000	0.28811	0.909000	0.53808	4.110000	0.57831	1.698000	0.51180	0.398000	0.26397	AGA		PASS	0.393	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		33	148	33	148	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735469	55735469	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:55735469C>A	ENST00000312345.2	-	1	521	c.471G>T	c.(469-471)ttG>ttT	p.L157F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L157F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CGCAAAAGGGCAAAAGGAAAA	0.398																																						uc010rit.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(469-471)TTG>TTT		olfactory receptor, family 10, subfamily AG,							84.0	81.0	82.0					11																	55735469		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735469C>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.471G>T	11.37:g.55735469C>A	ENSP00000311477:p.Leu157Phe						p.L157F	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	471	-	Esophageal squamous(21;0.0137)		157			Extracellular (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.471G>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955633	0.53293	.	.	ENSG00000174970	ENST00000312345	T	0.00253	8.43	5.47	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.157599	0.29775	N	0.011233	T	0.00300	0.0009	M	0.70787	2.145	0.21984	N	0.999439	P	0.40731	0.728	P	0.47470	0.548	T	0.29701	-1.0003	10	0.54805	T	0.06	.	7.7812	0.29066	0.0:0.7177:0.1504:0.1319	.	157	Q8NH19	O10AG_HUMAN	F	157	ENSP00000311477:L157F	ENSP00000311477:L157F	L	-	3	2	OR10AG1	55492045	0.000000	0.05858	0.947000	0.38551	0.844000	0.47949	-1.149000	0.03182	1.322000	0.45245	0.477000	0.44152	TTG		PASS	0.398	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		19	111	19	111	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56086192	56086192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:56086192C>A	ENST00000312711.1	+	1	410	c.410C>A	c.(409-411)tCa>tAa	p.S137*		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S137*(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTAATCATGTCACGAAGGGTA	0.413																																						uc010rjf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(409-411)TCA>TAA		olfactory receptor, family 8, subfamily K,							124.0	118.0	120.0					11																	56086192		2201	4296	6497	SO:0001587	stop_gained	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086192C>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.410C>A	11.37:g.56086192C>A	ENSP00000323555:p.Ser137*						p.S137*	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	410	+	Esophageal squamous(21;0.00448)		137			Cytoplasmic (Potential).		Q6IFC4	Nonsense_Mutation	SNP	ENST00000312711.1	37	c.410C>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262319	0.23051	.	.	ENSG00000181689	ENST00000312711	.	.	.	4.56	4.56	0.56223	.	0.000000	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1294	0.59373	0.0:0.7222:0.2778:0.0	.	.	.	.	X	137	.	ENSP00000323555:S137X	S	+	2	0	OR8K3	55842768	0.002000	0.14202	0.947000	0.38551	0.012000	0.07955	0.489000	0.22387	2.518000	0.84900	0.573000	0.79308	TCA		PASS	0.413	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		39	188	39	188	---	---	---	---
OR5B3	441608	broad.mit.edu	37	11	58170463	58170463	+	Silent	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:58170463A>T	ENST00000309403.2	-	1	419	c.420T>A	c.(418-420)gcT>gcA	p.A140A		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A140A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGGCCAGACGAGCACACACAG	0.493																																						uc010rkf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(418-420)GCT>GCA		olfactory receptor, family 5, subfamily B,							118.0	106.0	110.0					11																	58170463		2201	4295	6496	SO:0001819	synonymous_variant	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170463A>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.420T>A	11.37:g.58170463A>T							p.A140A	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	420	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	140			Helical; Name=4; (Potential).		Q6IEV6	Silent	SNP	ENST00000309403.2	37	c.420T>A	CCDS31549.1																																																																																				PASS	0.493	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		32	136	32	136	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58189883	58189883	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:58189883G>C	ENST00000302581.2	-	1	903	c.852C>G	c.(850-852)aaC>aaG	p.N284K		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N284K(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGACCACAGGGTTCAGCATGG	0.433																																						uc010rkg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(850-852)AAC>AAG		olfactory receptor, family 5, subfamily B,							97.0	91.0	93.0					11																	58189883		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58189883G>C	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.852C>G	11.37:g.58189883G>C	ENSP00000303076:p.Asn284Lys						p.N284K	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	852	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	284			Helical; Name=7; (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.852C>G	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673958	0.29693	.	.	ENSG00000172365	ENST00000302581	T	0.59364	0.27	3.73	1.83	0.25207	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72938	0.3523	H	0.98218	4.175	0.34882	D	0.74465	D	0.53885	0.963	P	0.47705	0.555	T	0.79586	-0.1742	9	0.87932	D	0	-16.0028	6.553	0.22444	0.3178:0.0:0.6822:0.0	.	284	Q96R09	OR5B2_HUMAN	K	284	ENSP00000303076:N284K	ENSP00000303076:N284K	N	-	3	2	OR5B2	57946459	0.948000	0.32251	0.972000	0.41901	0.082000	0.17680	0.063000	0.14410	0.383000	0.24910	0.585000	0.79938	AAC		PASS	0.433	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		37	162	37	162	---	---	---	---
OR4D10	390197	broad.mit.edu	37	11	59245001	59245001	+	Missense_Mutation	SNP	G	G	T	rs372469184		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:59245001G>T	ENST00000530162.1	+	1	156	c.99G>T	c.(97-99)ttG>ttT	p.L33F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L33F(1)|p.L31F(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCTACTCTTGGTGTATGTGA	0.423																																						uc001nnz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(97-99)TTG>TTT		olfactory receptor, family 4, subfamily D,		G	PHE/LEU	0,4196		0,0,2098	132.0	138.0	136.0		99	1.2	0.0	11		136	2,8478		0,2,4238	no	missense	OR4D10	NM_001004705.1	22	0,2,6336	TT,TG,GG		0.0236,0.0,0.0158	benign	33/312	59245001	2,12674	2098	4240	6338	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245001G>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.99G>T	11.37:g.59245001G>T	ENSP00000436424:p.Leu33Phe						p.L33F	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	99	+			33			Helical; Name=1; (Potential).		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.99G>T	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	G	3.017	-0.202588	0.06219	0.0	2.36E-4	ENSG00000254466	ENST00000530162	T	0.13901	2.55	4.2	1.22	0.21188	.	.	.	.	.	T	0.07052	0.0179	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40346	-0.9568	9	0.23302	T	0.38	.	3.2146	0.06695	0.4021:0.0:0.414:0.1839	.	33	Q8NGI6	OR4DA_HUMAN	F	33	ENSP00000436424:L33F	ENSP00000436424:L33F	L	+	3	2	OR4D10	59001577	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.894000	0.04123	0.338000	0.23692	0.655000	0.94253	TTG		PASS	0.423	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		74	268	74	268	---	---	---	---
OOSP2	219990	broad.mit.edu	37	11	59811058	59811058	+	Silent	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:59811058C>A	ENST00000278855.2	+	2	366	c.181C>A	c.(181-183)Cgg>Agg	p.R61R	PLAC1L_ENST00000532905.1_Silent_p.R30R	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		61						extracellular region (GO:0005576)		p.R61R(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						CCCTGCAAATCGGATACATAC	0.388																																						uc001nol.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(181-183)CGG>AGG		placenta-specific 1-like precursor							108.0	104.0	105.0					11																	59811058		2201	4295	6496	SO:0001819	synonymous_variant	219990					extracellular region		g.chr11:59811058C>A																												ENST00000278855.2:c.181C>A	11.37:g.59811058C>A							p.R61R	NM_173801	NP_776162	Q86WS3	PLACL_HUMAN			2	366	+			61					E9PJA4|Q8N9U6	Silent	SNP	ENST00000278855.2	37	c.181C>A	CCDS7979.1																																																																																				PASS	0.388	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			21	77	21	77	---	---	---	---
PAAF1	80227	broad.mit.edu	37	11	73620469	73620469	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:73620469T>A	ENST00000310571.3	+	7	611	c.558T>A	c.(556-558)gaT>gaA	p.D186E	PAAF1_ENST00000376384.5_Missense_Mutation_p.D169E|PAAF1_ENST00000544909.1_Missense_Mutation_p.D187E|PAAF1_ENST00000544552.1_Missense_Mutation_p.D169E|PAAF1_ENST00000536003.1_Missense_Mutation_p.D169E|PAAF1_ENST00000535604.1_Missense_Mutation_p.D71E|PAAF1_ENST00000541951.1_Missense_Mutation_p.D71E	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	186					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.D186E(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CCATCGTTGATCGGGGGAGGA	0.512																																						uc001ouk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(556-558)GAT>GAA		proteasomal ATPase-associated factor 1							171.0	156.0	161.0					11																	73620469		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73620469T>A	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.558T>A	11.37:g.73620469T>A	ENSP00000311665:p.Asp186Glu					PAAF1_uc001oul.1_Missense_Mutation_p.D169E|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.D169E	p.D186E	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN			7	592	+	Breast(11;7.42e-05)		186			WD 3.		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.558T>A	CCDS8226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.506|9.506	1.104558|1.104558	0.20632|0.20632	.|.	.|.	ENSG00000175575|ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000544909|ENST00000540659	T;T;T;T;T;T;T;T;T;T;T|.	0.60424|.	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19|.	5.06|5.06	0.141|0.141	0.14811|0.14811	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.073827|.	0.56097|.	N|.	0.000038|.	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.11427|0.11427	0.14|0.14	0.31488|0.31488	N|N	0.666282|0.666282	B;B|.	0.21071|.	0.005;0.051|.	B;B|.	0.20577|.	0.007;0.03|.	T|T	0.31971|0.31971	-0.9924|-0.9924	10|5	0.02654|.	T|.	1|.	-3.6566|-3.6566	5.1207|5.1207	0.14858|0.14858	0.0:0.2478:0.1593:0.5929|0.0:0.2478:0.1593:0.5929	.|.	169;186|.	Q9BRP4-2;Q9BRP4|.	.;PAAF1_HUMAN|.	E|T	71;186;169;169;71;71;169;169;50;169;187|27	ENSP00000441333:D71E;ENSP00000311665:D186E;ENSP00000439747:D169E;ENSP00000438894:D169E;ENSP00000438789:D71E;ENSP00000439143:D71E;ENSP00000438124:D169E;ENSP00000441494:D169E;ENSP00000439877:D50E;ENSP00000365564:D169E;ENSP00000438071:D187E|.	ENSP00000311665:D186E|.	D|S	+|+	3|1	2|0	PAAF1|PAAF1	73298117|73298117	0.849000|0.849000	0.29639|0.29639	0.999000|0.999000	0.59377|0.59377	0.278000|0.278000	0.26855|0.26855	-0.348000|-0.348000	0.07740|0.07740	0.001000|0.001000	0.14605|0.14605	0.459000|0.459000	0.35465|0.35465	GAT|TCG		PASS	0.512	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		4	159	4	159	---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92899094	92899094	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:92899094C>A	ENST00000326402.4	-	8	987	c.857G>T	c.(856-858)gGc>gTc	p.G286V	SLC36A4_ENST00000529184.1_Missense_Mutation_p.G151V	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	286					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.G286V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACTCCTATGCCTTCAAAAGC	0.328																																						uc001pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(856-858)GGC>GTC		solute carrier family 36 (proton/amino acid							51.0	52.0	52.0					11																	92899094		2201	4297	6498	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92899094C>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.857G>T	11.37:g.92899094C>A	ENSP00000317382:p.Gly286Val					SLC36A4_uc001pdm.2_Missense_Mutation_p.G151V	p.G286V	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			8	954	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	286			Helical; (Potential).		Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.857G>T	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978956	0.74360	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.03386	3.95;3.95;3.95	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	M	0.89030	3	0.80722	D	1	D	0.65815	0.995	D	0.66602	0.945	T	0.00817	-1.1554	10	0.87932	D	0	-9.7974	20.3495	0.98807	0.0:1.0:0.0:0.0	.	286	Q6YBV0	S36A4_HUMAN	V	286;151;180	ENSP00000317382:G286V;ENSP00000436570:G151V;ENSP00000432061:G180V	ENSP00000317382:G286V	G	-	2	0	SLC36A4	92538742	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.803000	0.75180	2.814000	0.96858	0.591000	0.81541	GGC		PASS	0.328	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			15	39	15	39	---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661393	116661393	+	Silent	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:116661393G>T	ENST00000227665.4	-	3	586	c.552C>A	c.(550-552)acC>acA	p.T184T	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Silent_p.T184T			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	184					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)	p.T184T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TGAAGCGGCCGGTGTGGTGCA	0.687																																						uc001ppr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(550-552)ACC>ACA		apolipoprotein AV precursor							29.0	32.0	31.0					11																	116661393		2201	4296	6497	SO:0001819	synonymous_variant	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661393G>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.552C>A	11.37:g.116661393G>T						ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.T184T|APOA5_uc009yzf.2_Silent_p.T184T|APOA5_uc009yzg.2_Silent_p.T210T	p.T184T	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	3	560	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	184					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Silent	SNP	ENST00000227665.4	37	c.552C>A	CCDS8376.2																																																																																				PASS	0.687	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			14	24	14	24	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116732021	116732021	+	Silent	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:116732021G>C	ENST00000292055.4	-	18	2111	c.2076C>G	c.(2074-2076)ccC>ccG	p.P692P	SIK3_ENST00000488337.1_Intron|SIK3_ENST00000446921.2_Silent_p.P750P|SIK3_ENST00000434315.2_Silent_p.P591P|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Silent_p.P750P|SIK3_ENST00000542607.1_Silent_p.P692P	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	692	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.P798P(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGCTCATGGGGGGAGGACTAT	0.473																																						uc001ppy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(2074-2076)CCC>CCG		serine/threonine-protein kinase QSK							82.0	88.0	86.0					11																	116732021		2201	4296	6497	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116732021G>C	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2076C>G	11.37:g.116732021G>C						SIK3_uc001ppz.2_Silent_p.P591P|SIK3_uc001pqa.2_Silent_p.P692P|SIK3_uc001ppw.2_Silent_p.P109P|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_5'UTR	p.P692P	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			18	2112	-			692			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.2076C>G	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	g	10.20	1.285984	0.23478	.	.	ENSG00000160584	ENST00000445177;ENST00000446921	D;T	0.83506	-1.73;1.89	5.83	3.95	0.45737	.	0.000000	0.41294	U	0.000913	D	0.84356	0.5454	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.84445	0.0585	7	0.87932	D	0	.	5.8182	0.18512	0.3553:0.0:0.6447:0.0	.	.	.	.	A	792;715	ENSP00000391295:P792A;ENSP00000390442:P715A	ENSP00000391295:P792A	P	-	1	0	SIK3	116237231	0.968000	0.33430	1.000000	0.80357	0.997000	0.91878	0.077000	0.14738	1.454000	0.47793	0.655000	0.94253	CCC		PASS	0.473	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		35	99	35	99	---	---	---	---
AMICA1	120425	broad.mit.edu	37	11	118065080	118065080	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:118065080T>A	ENST00000356289.5	-	10	1318	c.1145A>T	c.(1144-1146)aAg>aTg	p.K382M	AMICA1_ENST00000533261.1_Missense_Mutation_p.K371M|AMICA1_ENST00000292067.7_Missense_Mutation_p.K372M|AMICA1_ENST00000526620.1_Missense_Mutation_p.K343M	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	382					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.K372M(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCACCTGACTTTTTTTCAAG	0.488																																						uc001psk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1144-1146)AAG>ATG		adhesion molecule, interacts with CXADR antigen							141.0	131.0	135.0					11																	118065080		2200	4296	6496	SO:0001583	missense	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118065080T>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.1145A>T	11.37:g.118065080T>A	ENSP00000348635:p.Lys382Met					AMICA1_uc001psg.2_Missense_Mutation_p.K192M|AMICA1_uc001psh.2_Missense_Mutation_p.K343M|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.K372M|AMICA1_uc001psj.2_Missense_Mutation_p.K371M|AMICA1_uc010rxw.1_Missense_Mutation_p.K343M	p.K382M	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	10	1319	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	382			Cytoplasmic (Potential).		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.1145A>T	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.998870	0.54147	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	D;D;D;D	0.98822	-4.6;-4.61;-4.61;-5.16	4.54	2.23	0.28157	.	0.425191	0.17356	N	0.177223	D	0.97442	0.9163	L	0.29908	0.895	0.09310	N	1	D;D;D	0.69078	0.996;0.996;0.997	P;P;D	0.63192	0.819;0.819;0.912	D	0.92884	0.6325	10	0.66056	D	0.02	-6.0554	5.7895	0.18353	0.0:0.2147:0.0:0.7853	.	382;371;372	Q86YT9;E9PR26;Q86YT9-2	JAML1_HUMAN;.;.	M	382;372;371;343	ENSP00000348635:K382M;ENSP00000292067:K372M;ENSP00000436117:K371M;ENSP00000431218:K343M	ENSP00000292067:K372M	K	-	2	0	AMICA1	117570290	0.000000	0.05858	0.035000	0.18076	0.154000	0.21943	-0.236000	0.09003	0.286000	0.22352	0.460000	0.39030	AAG		PASS	0.488	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		10	87	10	87	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120998575	120998575	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:120998575G>T	ENST00000392793.1	+	9	2160	c.1889G>T	c.(1888-1890)gGc>gTc	p.G630V	TECTA_ENST00000264037.2_Missense_Mutation_p.G630V			O75443	TECTA_HUMAN	tectorin alpha	630	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.G630V(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCACAGAGGGCTGCGAGTGC	0.657																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(1888-1890)GGC>GTC		tectorin alpha precursor							69.0	64.0	66.0					11																	120998575		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998575G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1889G>T	11.37:g.120998575G>T	ENSP00000376543:p.Gly630Val						p.G630V	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1889	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	630			TIL 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1889G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782131	0.90282	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.83673	-1.75;-1.75	5.37	5.37	0.77165	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94904	0.8059	10	0.87932	D	0	.	19.47	0.94959	0.0:0.0:1.0:0.0	.	630	O75443	TECTA_HUMAN	V	630	ENSP00000376543:G630V;ENSP00000264037:G630V	ENSP00000264037:G630V	G	+	2	0	TECTA	120503785	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.517000	0.98020	2.681000	0.91329	0.655000	0.94253	GGC		PASS	0.657	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		34	63	34	63	---	---	---	---
OR8D2	283160	broad.mit.edu	37	11	124189385	124189385	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:124189385C>T	ENST00000357438.2	-	1	799	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GTGCCAAAGGCTTTGGATTGC	0.433																																						uc010sah.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(709-711)GCC>ACC		olfactory receptor, family 8, subfamily D,							99.0	105.0	103.0					11																	124189385		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189385C>T	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.709G>A	11.37:g.124189385C>T	ENSP00000350022:p.Ala237Thr						p.A237T	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	709	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	237			Cytoplasmic (Potential).		B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.709G>A	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.508116	0.85282	.	.	ENSG00000197263	ENST00000357438	T	0.00357	7.89	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000218	T	0.00580	0.0019	M	0.73372	2.23	0.44275	D	0.997133	P	0.52692	0.955	P	0.54889	0.763	T	0.81057	-0.1105	10	0.87932	D	0	.	15.688	0.77426	0.0:1.0:0.0:0.0	.	237	Q9GZM6	OR8D2_HUMAN	T	237	ENSP00000350022:A237T	ENSP00000350022:A237T	A	-	1	0	OR8D2	123694595	1.000000	0.71417	0.995000	0.50966	0.713000	0.41058	5.069000	0.64370	2.206000	0.71126	0.530000	0.56133	GCC		PASS	0.433	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		65	170	65	170	---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310358	124310358	+	Silent	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:124310358A>G	ENST00000328064.2	-	1	696	c.624T>C	c.(622-624)ggT>ggC	p.G208G		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	208					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.G208G(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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;0.0277)		CTGTGGGCACACCAATATCAA	0.488																																						uc010sal.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(622-624)GGT>GGC		olfactory receptor, family 8, subfamily B,							189.0	157.0	168.0					11																	124310358		2201	4299	6500	SO:0001819	synonymous_variant	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310358A>G	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.624T>C	11.37:g.124310358A>G							p.G208G	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	624	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	208			Helical; Name=5; (Potential).		A1L446|Q96RC8	Silent	SNP	ENST00000328064.2	37	c.624T>C	CCDS8446.1																																																																																				PASS	0.488	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		48	93	48	93	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133794771	133794771	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr11:133794771G>A	ENST00000321016.8	-	15	2293	c.2063C>T	c.(2062-2064)gCc>gTc	p.A688V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.A688V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	688	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.A144V(1)|p.A688V(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGCATGACGGCCAGAACCCG	0.577																																						uc001qgx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2062-2064)GCC>GTC		immunoglobulin superfamily, member 9B							110.0	119.0	116.0					11																	133794771		2100	4219	6319	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133794771G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2063C>T	11.37:g.133794771G>A	ENSP00000317980:p.Ala688Val					IGSF9B_uc001qgy.1_Missense_Mutation_p.A530V	p.A688V	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	15	2294	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	688			Fibronectin type-III 2.|Extracellular (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2063C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.531654	0.96446	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.76060	-0.99;-0.99;-0.99	5.02	5.02	0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39985	N	0.001202	D	0.88123	0.6352	M	0.86953	2.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.88530	0.3102	10	0.44086	T	0.13	.	18.7177	0.91682	0.0:0.0:1.0:0.0	.	688	Q9UPX0	TUTLB_HUMAN	V	688;530;688	ENSP00000317980:A688V;ENSP00000436552:A530V;ENSP00000436576:A688V	ENSP00000317980:A688V	A	-	2	0	IGSF9B	133299981	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.837000	0.86796	2.493000	0.84123	0.655000	0.94253	GCC		PASS	0.577	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		4	199	4	199	---	---	---	---
ERC1	23085	broad.mit.edu	37	12	1480998	1480998	+	Splice_Site	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:1480998G>A	ENST00000397203.2	+	16	3186		c.e16-1		ERC1_ENST00000360905.4_Splice_Site|ERC1_ENST00000355446.5_Splice_Site|ERC1_ENST00000589028.1_Splice_Site|ERC1_ENST00000543086.3_Splice_Site|ERC1_ENST00000546231.2_Splice_Site			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1						I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.?(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TTCTTTTGCAGGCAAGAAGCT	0.458																																						uc001qjb.2																			1	Unknown(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.e16-1		RAB6-interacting protein 2 isoform epsilon							62.0	55.0	57.0					12																	1480998		2203	4300	6503	SO:0001630	splice_region_variant	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1480998G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2781-1G>A	12.37:g.1480998G>A						ERC1_uc001qiz.2_Splice_Site|ERC1_uc001qjc.2_Splice_Site_p.K899_splice|ERC1_uc001qja.2_Splice_Site|ERC1_uc001qjd.2_Splice_Site|ERC1_uc001qjf.2_Splice_Site_p.K927_splice|ERC1_uc010sdv.1_Splice_Site_p.K635_splice|ERC1_uc001qje.2_Splice_Site	p.K927_splice	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		16	3022	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)							A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Splice_Site	SNP	ENST00000397203.2	37	c.2781_splice	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806228	0.90623	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4007	0.94629	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERC1	1351259	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	9.869000	0.99810	2.573000	0.86826	0.563000	0.77884	.		PASS	0.458	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	Intron	6	85	6	85	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	2024039	2024039	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:2024039C>G	ENST00000382722.5	-	2	652	c.290G>C	c.(289-291)gGc>gCc	p.G97A	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G97A|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G97A|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G33A|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G33A|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G97A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	97					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G97A(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAAGAGAGAGCCTGAGTATTT	0.577																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(289-291)GGC>GCC		voltage-gated calcium channel alpha(2)delta-4							138.0	145.0	143.0					12																	2024039		1998	4167	6165	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2024039C>G	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.290G>C	12.37:g.2024039C>G	ENSP00000372169:p.Gly97Ala					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.G97A	p.G97A	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	2	521	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	97			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.290G>C	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222322	0.79464	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.07800	3.16	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	M	0.72894	2.215	0.40960	D	0.984619	D;D	0.89917	0.997;1.0	D;D	0.91635	0.942;0.999	T	0.01133	-1.1441	10	0.59425	D	0.04	.	19.229	0.93829	0.0:1.0:0.0:0.0	.	97;97	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	A	33;97;97	ENSP00000372169:G97A	ENSP00000280663:G97A	G	-	2	0	CACNA2D4	1894300	1.000000	0.71417	0.997000	0.53966	0.788000	0.44548	6.386000	0.73186	2.627000	0.88993	0.650000	0.86243	GGC		PASS	0.577	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			23	138	23	138	---	---	---	---
NRIP2	83714	broad.mit.edu	37	12	2943847	2943847	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:2943847C>T	ENST00000337508.4	-	1	343	c.303G>A	c.(301-303)ccG>ccA	p.P101P		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	101					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)	p.P101P(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGCTGTCCAGCGGGAGCAGGT	0.657																																						uc001qlc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(301-303)CCG>CCA		nuclear receptor interacting protein 2							61.0	64.0	63.0					12																	2943847		2203	4300	6503	SO:0001819	synonymous_variant	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2943847C>T	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.303G>A	12.37:g.2943847C>T						NRIP2_uc010sed.1_Silent_p.P101P|uc009zdz.1_5'Flank	p.P101P	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	375	-			101					A2RRE3|B4DV61	Silent	SNP	ENST00000337508.4	37	c.303G>A	CCDS8514.1																																																																																				PASS	0.657	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		18	220	18	220	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5153548	5153548	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:5153548C>A	ENST00000252321.3	+	1	464	c.235C>A	c.(235-237)Cct>Act	p.P79T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	79	2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.				atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.P79T(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCGGCCCTTGCCTCCGCTGCC	0.746																																						uc001qni.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(235-237)CCT>ACT		potassium voltage-gated channel, shaker-related							5.0	7.0	6.0					12																	5153548		2081	4090	6171	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153548C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.235C>A	12.37:g.5153548C>A	ENSP00000252321:p.Pro79Thr						p.P79T	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	464	+			79			2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.|2.		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.235C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	-	7.956	0.745955	0.15710	.	.	ENSG00000130037	ENST00000252321	D	0.97553	-4.43	.	.	.	.	.	.	.	.	D	0.88640	0.6491	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.79369	-0.1832	8	0.14252	T	0.57	.	3.5811	0.07954	2.0E-4:0.4998:0.4998:2.0E-4	.	79	P22460	KCNA5_HUMAN	T	79	ENSP00000252321:P79T	ENSP00000252321:P79T	P	+	1	0	KCNA5	5023809	0.001000	0.12720	0.446000	0.26920	0.284000	0.27059	-0.135000	0.10420	-0.000000	0.14550	0.000000	0.15137	CCT		PASS	0.746	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		5	9	5	9	---	---	---	---
TPI1	7167	broad.mit.edu	37	12	6979488	6979488	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:6979488C>T	ENST00000229270.4	+	7	1139	c.802C>T	c.(802-804)Ctt>Ttt	p.L268F	TPI1_ENST00000535434.1_Missense_Mutation_p.L149F|TPI1_ENST00000488464.2_Missense_Mutation_p.L149F|TPI1_ENST00000396705.5_Missense_Mutation_p.L231F	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	268					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)	p.L231F(1)|p.L268F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGATGGCTTCCTTGTGGGTGG	0.572											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(691-693)CTT>TTT		triosephosphate isomerase 1 isoform 1							79.0	69.0	72.0					12																	6979488		2203	4300	6503	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6979488C>T		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.802C>T	12.37:g.6979488C>T	ENSP00000229270:p.Leu268Phe		OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_uc010sfo.1_Missense_Mutation_p.L149F	p.L231F	NM_000365	NP_000356	P60174	TPIS_HUMAN			7	729	+			231					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.691C>T	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237356	0.58886	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.97959	-4.63;-4.63;-4.63	5.29	5.29	0.74685	.	0.000000	0.64402	U	0.000003	D	0.97739	0.9258	M	0.90650	3.135	0.80722	D	1	P	0.51933	0.949	P	0.45913	0.497	D	0.97990	1.0354	10	0.87932	D	0	.	11.9854	0.53145	0.0:0.9201:0.0:0.0799	.	268	P60174	TPIS_HUMAN	F	268;231;149	ENSP00000229270:L268F;ENSP00000379933:L231F;ENSP00000443599:L149F	ENSP00000229270:L268F	L	+	1	0	TPI1	6849749	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	4.963000	0.63694	2.478000	0.83669	0.561000	0.74099	CTT		PASS	0.572	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		34	53	34	53	---	---	---	---
FAM90A1	55138	broad.mit.edu	37	12	8376048	8376048	+	Silent	SNP	C	C	G	rs199858249		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:8376048C>G	ENST00000538603.1	-	6	987	c.429G>C	c.(427-429)ctG>ctC	p.L143L	FAM90A1_ENST00000307435.6_Silent_p.L143L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	143							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L143L(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCCTCACCCTCAGATAATCAG	0.542																																						uc001qui.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(427-429)CTG>CTC		hypothetical protein LOC55138							47.0	60.0	56.0					12																	8376048		2203	4300	6503	SO:0001819	synonymous_variant	55138						nucleic acid binding|zinc ion binding	g.chr12:8376048C>G	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.429G>C	12.37:g.8376048C>G						FAM90A1_uc001quh.2_Silent_p.L143L	p.L143L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	6	988	-			143					D3DUU9|Q9NVZ6	Silent	SNP	ENST00000538603.1	37	c.429G>C	CCDS31738.1																																																																																				PASS	0.542	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		6	126	6	126	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18435602	18435602	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:18435602G>A	ENST00000266497.5	+	1	625	c.587G>A	c.(586-588)gGa>gAa	p.G196E	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G196E|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.G196E|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.G196E			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	196					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.G196E(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAAAGGAGTGGACATGTGAAC	0.383																																						uc001rdt.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(586-588)GGA>GAA		phosphoinositide-3-kinase, class 2 gamma							137.0	131.0	133.0					12																	18435602		1858	4106	5964	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435602G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.587G>A	12.37:g.18435602G>A	ENSP00000266497:p.Gly196Glu					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.G196E|PIK3C2G_uc010sic.1_5'UTR	p.G196E	NM_004570	NP_004561	O75747	P3C2G_HUMAN			2	703	+		Hepatocellular(102;0.194)	196					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.587G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	7.206	0.594407	0.13875	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.60424	1.52;0.19;0.19;0.2	4.42	0.154	0.14901	.	1.598930	0.03442	N	0.209471	T	0.37652	0.1011	N	0.24115	0.695	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.16289	0.015;0.006	T	0.13495	-1.0507	10	0.06891	T	0.86	-0.253	3.9904	0.09535	0.3252:0.1758:0.4989:0.0	.	196;196	F5H369;O75747	.;P3C2G_HUMAN	E	196	ENSP00000443850:G196E;ENSP00000404845:G196E;ENSP00000266497:G196E;ENSP00000445381:G196E	ENSP00000266497:G196E	G	+	2	0	PIK3C2G	18326869	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.174000	0.03105	0.026000	0.15269	0.655000	0.94253	GGA		PASS	0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		205	268	205	268	---	---	---	---
PLCZ1	89869	broad.mit.edu	37	12	18854689	18854689	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:18854689C>T	ENST00000538330.1	-	5	490	c.109G>A	c.(109-111)Gtt>Att	p.V37I	PLCZ1_ENST00000447925.2_Missense_Mutation_p.V294I|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.V296I|PLCZ1_ENST00000541695.1_Missense_Mutation_p.V159I|PLCZ1_ENST00000539875.1_Missense_Mutation_p.V103I|PLCZ1_ENST00000435379.1_Missense_Mutation_p.V101I					phospholipase C, zeta 1									p.V296I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTATTTTTAACTAATATTTTG	0.338																																						uc010sid.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(886-888)GTT>ATT		phospholipase C, zeta 1							47.0	47.0	47.0					12																	18854689		2200	4297	6497	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18854689C>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.109G>A	12.37:g.18854689C>T	ENSP00000445880:p.Val37Ile					PLCZ1_uc001rdv.3_Missense_Mutation_p.V192I|PLCZ1_uc001rdw.3_Missense_Mutation_p.V37I|PLCZ1_uc001rdu.1_Missense_Mutation_p.V37I|PLCZ1_uc009zil.1_RNA	p.V296I	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			8	1077	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		296			PI-PLC X-box.			Missense_Mutation	SNP	ENST00000538330.1	37	c.886G>A		.	.	.	.	.	.	.	.	.	.	C	10.91	1.484715	0.26598	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	T;T;T;T;T;T;T;T;T	0.61859	0.07;0.9;0.9;0.16;0.9;0.16;0.07;0.9;0.16	5.35	2.56	0.30785	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.204155	0.42682	N	0.000667	T	0.25044	0.0608	N	0.03224	-0.385	0.30598	N	0.760834	B;P	0.38020	0.15;0.615	B;B	0.33196	0.087;0.159	T	0.30679	-0.9970	10	0.10636	T	0.68	.	7.7922	0.29127	0.0:0.7443:0.0:0.2557	.	296;37	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	I	37;296;294;101;159;103;31;37;123	ENSP00000445880:V37I;ENSP00000266505:V296I;ENSP00000402358:V294I;ENSP00000400504:V101I;ENSP00000443349:V159I;ENSP00000445026:V103I;ENSP00000445889:V31I;ENSP00000443762:V37I;ENSP00000438629:V123I	ENSP00000266505:V296I	V	-	1	0	PLCZ1	18745956	0.996000	0.38824	0.988000	0.46212	0.882000	0.50991	0.926000	0.28804	0.345000	0.23873	-0.140000	0.14226	GTT		PASS	0.338	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		3	52	3	52	---	---	---	---
AEBP2	121536	broad.mit.edu	37	12	19667652	19667652	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:19667652C>G	ENST00000398864.3	+	7	1441	c.1415C>G	c.(1414-1416)aCt>aGt	p.T472S	AEBP2_ENST00000360995.4_Missense_Mutation_p.T256S|AEBP2_ENST00000266508.9_Missense_Mutation_p.T472S|AEBP2_ENST00000541908.1_Missense_Mutation_p.T243S	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	472	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.T472S(1)		ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					CAGTTAAAAACTAAAGTAGTT	0.299																																						uc001ref.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1414-1416)ACT>AGT		AE binding protein 2 isoform b							80.0	78.0	78.0					12																	19667652		1827	4088	5915	SO:0001583	missense	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19667652C>G		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1415C>G	12.37:g.19667652C>G	ENSP00000381840:p.Thr472Ser					AEBP2_uc001ree.2_Missense_Mutation_p.T472S|AEBP2_uc001reg.1_Missense_Mutation_p.T243S	p.T472S	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN			7	1441	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		472			Interaction with SUZ12.		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	37	c.1415C>G	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718619	0.68844	.	.	ENSG00000139154	ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995;ENST00000512223;ENST00000398731	T;T;T;T	0.70986	-0.43;-0.37;-0.53;-0.33	5.79	5.79	0.91817	.	.	.	.	.	D	0.82582	0.5068	M	0.62723	1.935	0.58432	D	0.999999	D	0.69078	0.997	D	0.70716	0.97	T	0.79448	-0.1799	9	0.35671	T	0.21	.	20.0946	0.97833	0.0:1.0:0.0:0.0	.	472	Q6ZN18	AEBP2_HUMAN	S	243;472;406;472;256;82;70	ENSP00000437983:T243S;ENSP00000381840:T472S;ENSP00000266508:T472S;ENSP00000354267:T256S	ENSP00000266508:T472S	T	+	2	0	AEBP2	19558919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.117000	0.77129	2.761000	0.94854	0.644000	0.83932	ACT		PASS	0.299	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		3	67	3	67	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20874755	20874755	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:20874755C>A	ENST00000266509.2	+	8	1161	c.793C>A	c.(793-795)Cca>Aca	p.P265T	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P147T|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.P265T|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P265T|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P216T	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	265					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P265T(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AACCATTACCCCAAAAGATCC	0.388																																						uc001rej.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(793-795)CCA>ACA		solute carrier organic anion transporter family,							72.0	72.0	72.0					12																	20874755		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20874755C>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.793C>A	12.37:g.20874755C>A	ENSP00000266509:p.Pro265Thr					SLCO1C1_uc010sii.1_Missense_Mutation_p.P265T|SLCO1C1_uc010sij.1_Missense_Mutation_p.P216T|SLCO1C1_uc009zip.2_Missense_Mutation_p.P99T|SLCO1C1_uc001rei.2_Missense_Mutation_p.P265T|SLCO1C1_uc010sik.1_Missense_Mutation_p.P147T	p.P265T	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			9	1148	+	Esophageal squamous(101;0.149)		265			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.793C>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654702	0.67472	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.9	4.01	0.46588	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.177235	0.50627	D	0.000117	T	0.57607	0.2065	M	0.64080	1.96	0.44295	D	0.997164	D;P;P;P	0.65815	0.995;0.942;0.944;0.942	D;P;P;P	0.65010	0.931;0.868;0.803;0.868	T	0.58142	-0.7688	10	0.41790	T	0.15	.	13.374	0.60728	0.0:0.9241:0.0:0.0759	.	147;216;265;265	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	T	265;216;265;265;147	ENSP00000444149:P265T;ENSP00000438665:P216T;ENSP00000266509:P265T;ENSP00000370964:P265T;ENSP00000444527:P147T	ENSP00000266509:P265T	P	+	1	0	SLCO1C1	20766022	0.990000	0.36364	0.995000	0.50966	0.991000	0.79684	4.465000	0.60141	1.422000	0.47177	0.591000	0.81541	CCA		PASS	0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		68	116	68	116	---	---	---	---
BCAT1	586	broad.mit.edu	37	12	24985698	24985698	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:24985698A>G	ENST00000261192.7	-	9	1529	c.1003T>C	c.(1003-1005)Tgt>Cgt	p.C335R	RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000539282.1_Missense_Mutation_p.C347R|BCAT1_ENST00000544418.1_5'Flank|BCAT1_ENST00000342945.5_Missense_Mutation_p.C274R|BCAT1_ENST00000539780.1_Missense_Mutation_p.C298R|BCAT1_ENST00000538118.1_Missense_Mutation_p.C334R	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	335					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)	p.C335R(1)		breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CAAACAACACAGGCTGTACCA	0.423																																						uc001rgd.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(1003-1005)TGT>CGT		branched chain aminotransferase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						120.0	120.0	120.0					12																	24985698		1935	4150	6085	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:24985698A>G		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.1003T>C	12.37:g.24985698A>G	ENSP00000261192:p.Cys335Arg					BCAT1_uc001rgc.2_Missense_Mutation_p.C334R|BCAT1_uc010six.1_Missense_Mutation_p.C347R|BCAT1_uc010siy.1_Missense_Mutation_p.C298R|BCAT1_uc001rge.3_Missense_Mutation_p.C274R	p.C335R	NM_005504	NP_005495	P54687	BCAT1_HUMAN			9	1445	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		335					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.1003T>C	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.722043	0.68959	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	5.02	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.989	T	0.53570	-0.8420	10	0.87932	D	0	-14.2512	12.0441	0.53469	0.8555:0.1445:0.0:0.0	.	298;347;274;335;334	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	R	335;334;274;347;298	ENSP00000261192:C335R;ENSP00000440817:C334R;ENSP00000339805:C274R;ENSP00000443459:C347R;ENSP00000440827:C298R	ENSP00000261192:C335R	C	-	1	0	BCAT1	24876965	1.000000	0.71417	0.534000	0.28014	0.908000	0.53690	6.497000	0.73674	0.827000	0.34685	0.533000	0.62120	TGT		PASS	0.423	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		27	37	27	37	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29908774	29908774	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:29908774A>G	ENST00000539277.1	-	4	657	c.599T>C	c.(598-600)gTg>gCg	p.V200A	TMTC1_ENST00000256062.5_Missense_Mutation_p.V92A|TMTC1_ENST00000551659.1_Missense_Mutation_p.V200A|TMTC1_ENST00000381224.2_Missense_Mutation_p.V92A|TMTC1_ENST00000552618.1_Missense_Mutation_p.V200A	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	200						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.V92A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GAAGGGAGACACCGTGGAAGG	0.468																																						uc001rjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)GTG>GCG		transmembrane and tetratricopeptide repeat							95.0	88.0	90.0					12																	29908774		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29908774A>G		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.599T>C	12.37:g.29908774A>G	ENSP00000442046:p.Val200Ala					TMTC1_uc001rjc.1_Missense_Mutation_p.V92A	p.V92A	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			4	749	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		200			Helical; (Potential).		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.275T>C	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	A	4.340	0.062471	0.08388	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.68624	-0.34;-0.11;-0.34;-0.2;1.5	5.45	1.58	0.23477	.	0.896727	0.09708	N	0.766111	T	0.37237	0.0996	N	0.02357	-0.585	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.21518	-1.0243	9	.	.	.	0.1217	8.5489	0.33440	0.3291:0.0:0.6709:0.0	.	92;200	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	A	92;200;200;200;92	ENSP00000256062:V92A;ENSP00000448112:V200A;ENSP00000449043:V200A;ENSP00000442046:V200A;ENSP00000370622:V92A	.	V	-	2	0	TMTC1	29800041	0.698000	0.27777	0.516000	0.27786	0.771000	0.43674	2.015000	0.40961	0.266000	0.21894	-0.468000	0.05107	GTG		PASS	0.468	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		9	157	9	157	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40703026	40703026	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:40703026C>T	ENST00000298910.7	+	30	4366	c.4308C>T	c.(4306-4308)ttC>ttT	p.F1436F		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1436	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.F1436F(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTGGCTCTTCAATATAAAGG	0.408																																						uc001rmg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(4306-4308)TTC>TTT		leucine-rich repeat kinase 2							77.0	67.0	70.0					12																	40703026		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40703026C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4308C>T	12.37:g.40703026C>T						LRRK2_uc009zjw.2_Silent_p.F274F|LRRK2_uc001rmi.2_Silent_p.F269F	p.F1436F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			30	4429	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1436			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.4308C>T	CCDS31774.1																																																																																				PASS	0.408	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		15	108	15	108	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49448310	49448310	+	Splice_Site	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:49448310C>T	ENST00000301067.7	-	3	400		c.e3+1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(2)									TCCTCACTCACCTCCAGGTTC	0.542																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Unknown(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.e3+1		myeloid/lymphoid or mixed-lineage leukemia 2							17.0	19.0	18.0					12																	49448310		1926	4153	6079	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49448310C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.400+1G>A	12.37:g.49448310C>T		HNSCC(34;0.089)					p.G134_splice	NM_003482	NP_003473	O14686	MLL2_HUMAN			3	400	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.400_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586524	0.46110	.	.	ENSG00000167548	ENST00000301067;ENST00000547610	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3273	0.60467	0.0:0.8402:0.1598:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47734577	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	4.210000	0.58500	2.247000	0.74100	0.557000	0.71058	.		PASS	0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	3	32	3	32	---	---	---	---
KRT83	3889	broad.mit.edu	37	12	52714744	52714744	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:52714744T>C	ENST00000293670.3	-	1	438	c.376A>G	c.(376-378)Atc>Gtc	p.I126V		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	126	Coil 1A.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.I126V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCTTGTCGATGAAGGCCGCG	0.567																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	uc001saf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(376-378)ATC>GTC		keratin 83							201.0	174.0	183.0					12																	52714744		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52714744T>C	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.376A>G	12.37:g.52714744T>C	ENSP00000293670:p.Ile126Val						p.I126V	NM_002282	NP_002273	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	439	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		126			Rod.|Coil 1A.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.376A>G	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858711	0.71834	.	.	ENSG00000170523	ENST00000293670	D	0.91996	-2.95	4.7	4.7	0.59300	Filament (1);	0.000000	0.38381	N	0.001712	D	0.95217	0.8449	M	0.90705	3.14	0.43364	D	0.995442	P	0.43519	0.809	P	0.50378	0.639	D	0.96098	0.9067	10	0.72032	D	0.01	.	14.6217	0.68592	0.0:0.0:0.0:1.0	.	126	P78385	KRT83_HUMAN	V	126	ENSP00000293670:I126V	ENSP00000293670:I126V	I	-	1	0	KRT83	51001011	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.779000	0.85648	2.096000	0.63516	0.533000	0.62120	ATC		PASS	0.567	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		88	276	88	276	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53715196	53715196	+	Silent	SNP	T	T	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:53715196T>A	ENST00000209873.4	-	1	219	c.54A>T	c.(52-54)ctA>ctT	p.L18L	AAAS_ENST00000394384.3_Silent_p.L18L|AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	18					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.L18L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TGTGCTCATATAGGGTGACTT	0.637											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001scr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(52-54)CTA>CTT		achalasia, adrenocortical insufficiency,							122.0	126.0	125.0					12																	53715196		2203	4300	6503	SO:0001819	synonymous_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715196T>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.54A>T	12.37:g.53715196T>A			OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	AAAS_uc001scs.3_Silent_p.L18L	p.L18L	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN			1	217	-			18					Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	c.54A>T	CCDS8856.1																																																																																				PASS	0.637	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			139	364	139	364	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72092691	72092691	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:72092691G>A	ENST00000266673.5	+	5	1243	c.649G>A	c.(649-651)Gga>Aga	p.G217R	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Missense_Mutation_p.G217R	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	217						integral component of membrane (GO:0016021)		p.G217R(1)		large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TACCAATGGAGGAGTTACAGT	0.428																																						uc001sws.2																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)GGA>AGA		transmembrane protein 19							237.0	192.0	208.0					12																	72092691		2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72092691G>A	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.649G>A	12.37:g.72092691G>A	ENSP00000266673:p.Gly217Arg					TMEM19_uc001swr.1_Missense_Mutation_p.G203R|TMEM19_uc009zru.1_RNA	p.G217R	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	5	1232	+		Breast(359;0.0889)	217					B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.649G>A	CCDS9002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.285212|5.285212	0.95517|0.95517	.|.	.|.	ENSG00000139291|ENSG00000139291	ENST00000266673;ENST00000549735;ENST00000546677;ENST00000546795|ENST00000550787	.|.	.|.	.|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87892|0.87892	0.6292|0.6292	H|H	0.95816|0.95816	3.725|3.725	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.997;1.0|.	D;D|.	0.77557|.	0.954;0.99|.	D|D	0.90603|0.90603	0.4546|0.4546	9|5	0.87932|.	D|.	0|.	-10.3361|-10.3361	18.6193|18.6193	0.91316|0.91316	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	217;217|.	Q96HH6;Q96HH6-2|.	TMM19_HUMAN;.|.	R|K	217;217;116;61|32	.|.	ENSP00000266673:G217R|.	G|R	+|+	1|2	0|0	TMEM19|TMEM19	70378958|70378958	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.969000|0.969000	0.65631|0.65631	9.869000|9.869000	0.99810|0.99810	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GGA|AGG		PASS	0.428	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		89	216	89	216	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	73015511	73015511	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:73015511G>C	ENST00000261180.4	+	15	2616	c.2520G>C	c.(2518-2520)tgG>tgC	p.W840C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	840					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.W840C(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						TTTCAGATTGGATTTCCAGCA	0.388																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2518-2520)TGG>TGC		thyrotropin-releasing hormone degrading enzyme							90.0	82.0	85.0					12																	73015511		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73015511G>C	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.2520G>C	12.37:g.73015511G>C	ENSP00000261180:p.Trp840Cys						p.W840C	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			15	2550	+			840			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2520G>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371100	0.82573	.	.	ENSG00000072657	ENST00000261180	T	0.06608	3.28	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32481	-0.9905	10	0.87932	D	0	.	19.5612	0.95373	0.0:0.0:1.0:0.0	.	840	Q9UKU6	TRHDE_HUMAN	C	840	ENSP00000261180:W840C	ENSP00000261180:W840C	W	+	3	0	TRHDE	71301778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.687000	0.91594	0.655000	0.94253	TGG		PASS	0.388	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		28	80	28	80	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78360035	78360035	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:78360035T>A	ENST00000397909.2	+	4	614	c.441T>A	c.(439-441)agT>agA	p.S147R	NAV3_ENST00000228327.6_Missense_Mutation_p.S147R|NAV3_ENST00000266692.7_Missense_Mutation_p.S147R|NAV3_ENST00000536525.2_Missense_Mutation_p.S147R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	147	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S147R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTGCCTTAGTTTTCTAGCAG	0.338										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(439-441)AGT>AGA		neuron navigator 3							152.0	137.0	142.0					12																	78360035		1820	4089	5909	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78360035T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.441T>A	12.37:g.78360035T>A	ENSP00000381007:p.Ser147Arg	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S147R	p.S147R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			4	614	+			147			CH.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.441T>A		.	.	.	.	.	.	.	.	.	.	T	20.1	3.933106	0.73442	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.58	0.14	0.14804	Calponin homology domain (5);	0.000000	0.40554	U	0.001062	T	0.54679	0.1873	L	0.31845	0.965	0.80722	D	1	D;B	0.64830	0.994;0.0	P;B	0.61477	0.889;0.002	T	0.52653	-0.8547	10	0.62326	D	0.03	-6.0057	4.8151	0.13363	0.0:0.485:0.2027:0.3124	.	147;147	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	R	147	ENSP00000446628:S147R;ENSP00000446132:S147R;ENSP00000381007:S147R;ENSP00000228327:S147R;ENSP00000266692:S147R	ENSP00000228327:S147R	S	+	3	2	NAV3	76884166	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.911000	0.28584	0.044000	0.15775	0.528000	0.53228	AGT		PASS	0.338	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		15	165	15	165	---	---	---	---
CDK17	5128	broad.mit.edu	37	12	96691046	96691046	+	Splice_Site	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:96691046A>T	ENST00000261211.3	-	9	1477		c.e9+1		CDK17_ENST00000542666.1_Splice_Site|CDK17_ENST00000553042.1_Splice_Site|CDK17_ENST00000543119.2_Splice_Site	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17						protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AAGAAAACATACCTTTACGTT	0.363																																						uc001tep.1																			1	Unknown(1)		lung(1)	ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						c.e9+1		PCTAIRE protein kinase 2							153.0	123.0	133.0					12																	96691046		2203	4300	6503	SO:0001630	splice_region_variant	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96691046A>T		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.873+1T>A	12.37:g.96691046A>T						CDK17_uc009ztk.2_Splice_Site_p.K291_splice|CDK17_uc010svb.1_Splice_Site_p.K238_splice	p.K291_splice	NM_002595	NP_002586	Q00537	CDK17_HUMAN			9	1362	-								A8K1U6|B2RCQ2|Q8NEB8	Splice_Site	SNP	ENST00000261211.3	37	c.873_splice	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.074178	0.76415	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3478	0.74355	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK17	95215177	1.000000	0.71417	0.996000	0.52242	0.772000	0.43724	9.310000	0.96267	2.164000	0.68074	0.533000	0.62120	.		PASS	0.363	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	Intron	22	78	22	78	---	---	---	---
PARPBP	55010	broad.mit.edu	37	12	102576327	102576327	+	Splice_Site	SNP	G	G	T	rs74958875		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:102576327G>T	ENST00000358383.5	+	9	1230	c.1185G>T	c.(1183-1185)agG>agT	p.R395S	PARPBP_ENST00000327680.2_Splice_Site_p.R314S|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Splice_Site_p.R314S|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000541394.1_Splice_Site_p.R472S			Q9NWS1	PARI_HUMAN	PARP1 binding protein	395					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R314S(1)|p.R395S(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TTTGACATAGGTCTCCCACAC	0.343																																						uc001tjf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1183-1185)AGG>AGT		hypothetical protein LOC55010							40.0	41.0	41.0					12																	102576327		2203	4299	6502	SO:0001630	splice_region_variant	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102576327G>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1185-1G>T	12.37:g.102576327G>T						C12orf48_uc001tjg.2_Missense_Mutation_p.R314S|C12orf48_uc010swa.1_Missense_Mutation_p.R472S|C12orf48_uc001tjh.2_Missense_Mutation_p.R314S|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.R110S|C12orf48_uc001tjk.2_Missense_Mutation_p.R274S|C12orf48_uc009zud.2_Intron	p.R395S	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			9	1297	+			395					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.1185G>T	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607787	0.28623	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911;ENST00000417507	T;T;T;T;T	0.53206	0.63;0.68;0.65;0.63;1.25	5.26	-3.43	0.04810	.	0.170015	0.64402	D	0.000007	T	0.26268	0.0641	L	0.45137	1.4	0.47214	D	0.999354	B;B;B	0.28998	0.23;0.015;0.035	B;B;B	0.23574	0.047;0.015;0.015	T	0.02721	-1.1119	9	.	.	.	.	2.1117	0.03704	0.3595:0.1382:0.3668:0.1354	.	472;274;395	B4DZ31;Q9NWS1-7;Q9NWS1	.;.;PR1BP_HUMAN	S	314;472;395;314;241	ENSP00000332915:R314S;ENSP00000440850:R472S;ENSP00000351153:R395S;ENSP00000376643:R314S;ENSP00000411313:R241S	.	R	+	3	2	C12orf48	101100457	0.634000	0.27190	0.961000	0.40146	0.092000	0.18411	-0.652000	0.05366	-0.405000	0.07599	-0.469000	0.05056	AGG		PASS	0.343	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915	Missense_Mutation	15	62	15	62	---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114387903	114387903	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:114387903T>C	ENST00000545145.2	-	9	1135	c.1057A>G	c.(1057-1059)Aac>Gac	p.N353D	RBM19_ENST00000261741.5_Missense_Mutation_p.N353D|RBM19_ENST00000392561.3_Missense_Mutation_p.N353D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	353	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N353D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TACTCCCGGTTGCATTTCAGA	0.478																																						uc009zwi.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(1057-1059)AAC>GAC		RNA binding motif protein 19							246.0	172.0	197.0					12																	114387903		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114387903T>C	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1057A>G	12.37:g.114387903T>C	ENSP00000442053:p.Asn353Asp					RBM19_uc001tvn.3_Missense_Mutation_p.N353D|RBM19_uc001tvm.2_Missense_Mutation_p.N353D	p.N353D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			9	1201	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		353			RRM 2.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1057A>G	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154510	0.38021	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.32988	1.43;1.43;1.43	4.63	3.47	0.39725	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.292249	0.41823	D	0.000806	T	0.19485	0.0468	N	0.20304	0.555	0.43195	D	0.995031	B	0.17667	0.023	B	0.26969	0.075	T	0.04946	-1.0916	10	0.18276	T	0.48	-39.2078	10.8114	0.46549	0.0:0.0:0.1588:0.8412	.	353	Q9Y4C8	RBM19_HUMAN	D	353	ENSP00000442053:N353D;ENSP00000376344:N353D;ENSP00000261741:N353D	ENSP00000261741:N353D	N	-	1	0	RBM19	112872286	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	2.102000	0.41796	0.796000	0.33947	0.533000	0.62120	AAC		PASS	0.478	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		39	198	39	198	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124158247	124158247	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:124158247G>T	ENST00000303372.5	+	4	481	c.353G>T	c.(352-354)tGt>tTt	p.C118F	TCTN2_ENST00000426174.2_Missense_Mutation_p.C117F	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	118					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.C118F(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GAGTCCCCCTGTATCCTCCAG	0.458																																						uc001ufp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(352-354)TGT>TTT		tectonic family member 2 isoform 1							205.0	194.0	198.0					12																	124158247		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124158247G>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.353G>T	12.37:g.124158247G>T	ENSP00000304941:p.Cys118Phe					TCTN2_uc009zya.2_Missense_Mutation_p.C117F	p.C118F	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	4	481	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		118			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.353G>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848840	0.71603	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.91843	-2.92;-2.92	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	M	0.77103	2.36	0.42205	D	0.991789	D;D	0.59767	0.986;0.986	P;P	0.56216	0.794;0.794	D	0.94399	0.7621	10	0.41790	T	0.15	-17.8018	16.2458	0.82445	0.0:0.0:1.0:0.0	.	117;118	A8K7Y8;Q96GX1	.;TECT2_HUMAN	F	117;118	ENSP00000395171:C117F;ENSP00000304941:C118F	ENSP00000304941:C118F	C	+	2	0	TCTN2	122724200	0.998000	0.40836	0.035000	0.18076	0.194000	0.23727	5.336000	0.65935	2.345000	0.79718	0.650000	0.86243	TGT		PASS	0.458	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		93	375	93	375	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124303521	124303521	+	Missense_Mutation	SNP	G	G	T	rs536505200		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:124303521G>T	ENST00000409039.3	+	21	3476	c.3451G>T	c.(3451-3453)Gtt>Ttt	p.V1151F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1151	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.V1151F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAAGAACTGGTTGATAAGAT	0.363																																						uc001uft.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3451-3453)GTT>TTT		dynein, axonemal, heavy chain 10							127.0	117.0	120.0					12																	124303521		1878	4104	5982	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124303521G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3451G>T	12.37:g.124303521G>T	ENSP00000386770:p.Val1151Phe						p.V1151F	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	21	3476	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1151			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3451G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	5.604	0.296166	0.10622	.	.	ENSG00000197653	ENST00000409039	T	0.24350	1.86	5.55	5.55	0.83447	.	.	.	.	.	T	0.27900	0.0687	L	0.56769	1.78	0.28561	N	0.911144	B	0.06786	0.001	B	0.09377	0.004	T	0.07424	-1.0773	9	0.27082	T	0.32	.	14.1846	0.65598	0.0:0.0:0.8511:0.1489	.	1151	Q8IVF4	DYH10_HUMAN	F	1151	ENSP00000386770:V1151F	ENSP00000386770:V1151F	V	+	1	0	DNAH10	122869474	0.998000	0.40836	0.729000	0.30791	0.121000	0.20230	2.802000	0.47916	2.605000	0.88082	0.455000	0.32223	GTT		PASS	0.363	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			9	37	9	37	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124979765	124979765	+	Silent	SNP	C	C	A	rs369322766		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:124979765C>A	ENST00000405201.1	-	1	33	c.33G>T	c.(31-33)acG>acT	p.T11T	NCOR2_ENST00000404621.1_Silent_p.T11T|NCOR2_ENST00000397355.1_Silent_p.T11T|NCOR2_ENST00000356219.3_Silent_p.T11T|NCOR2_ENST00000429285.2_Silent_p.T11T|NCOR2_ENST00000404121.2_5'UTR			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	11					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.T11T(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)		TGGCCCTCCACGTCTGTGCCA	0.642																																						uc010tba.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(31-33)ACG>ACT		nuclear receptor co-repressor 2 isoform 2							36.0	41.0	39.0					12																	124979765		1985	4148	6133	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.chr12:124979765C>A	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.33G>T	12.37:g.124979765C>A						NCOR2_uc010tay.1_Silent_p.T11T|NCOR2_uc010taz.1_Silent_p.T11T|NCOR2_uc010tbb.1_Silent_p.T11T|NCOR2_uc010tbc.1_Silent_p.T11T|NCOR2_uc001ugj.1_Silent_p.T11T|NCOR2_uc001ugk.1_Silent_p.T11T	p.T11T	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)	1	150	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		11					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.33G>T	CCDS41858.2																																																																																				PASS	0.642	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		21	49	21	49	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132496111	132496111	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr12:132496111C>T	ENST00000333577.4	+	17	3590	c.3481C>T	c.(3481-3483)Cgt>Tgt	p.R1161C	EP400_ENST00000389561.2_Missense_Mutation_p.R1125C|EP400_ENST00000389562.2_Missense_Mutation_p.R1124C|EP400_ENST00000330386.6_Missense_Mutation_p.R1125C|EP400_ENST00000332482.4_Missense_Mutation_p.R1088C			Q96L91	EP400_HUMAN	E1A binding protein p400	1161	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R1124C(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGAATTGAAACGTTGGTGTCC	0.383																																						uc001ujn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(3373-3375)CGT>TGT		E1A binding protein p400							130.0	128.0	129.0					12																	132496111		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132496111C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3481C>T	12.37:g.132496111C>T	ENSP00000333602:p.Arg1161Cys					EP400_uc001ujl.2_Missense_Mutation_p.R1124C|EP400_uc001ujm.2_Missense_Mutation_p.R1125C	p.R1125C	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	15	3408	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1161			Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3373C>T		.	.	.	.	.	.	.	.	.	.	C	14.43	2.534502	0.45073	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.93978	3.48	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98768	1.0727	10	0.87932	D	0	.	18.7022	0.91625	0.0:1.0:0.0:0.0	.	1125;1125;1124	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	C	1161;1125;1124;1088;1125;1125;1125	ENSP00000333602:R1161C;ENSP00000374212:R1125C;ENSP00000374213:R1124C;ENSP00000331737:R1088C;ENSP00000330620:R1125C	ENSP00000330620:R1125C	R	+	1	0	EP400	131062064	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.885000	0.69736	2.396000	0.81511	0.573000	0.79308	CGT		PASS	0.383	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		41	147	41	147	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19748086	19748086	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr13:19748086C>A	ENST00000400113.3	-	5	1374	c.1270G>T	c.(1270-1272)Gac>Tac	p.D424Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	424					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.D424Y(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCTGCCAGGTCCTCGCGGGCC	0.582																																						uc009zzj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1270-1272)GAC>TAC		tubulin, alpha 3c							136.0	136.0	136.0					13																	19748086		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748086C>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1270G>T	13.37:g.19748086C>A	ENSP00000382982:p.Asp424Tyr						p.D424Y	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1319	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	424					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1270G>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	8.707	0.911046	0.17833	.	.	ENSG00000198033	ENST00000400113	D	0.84146	-1.81	1.22	1.22	0.21188	.	0.000000	0.48767	U	0.000174	D	0.86556	0.5961	.	.	.	0.49389	D	0.999782	.	.	.	.	.	.	D	0.85869	0.1415	7	0.87932	D	0	.	8.3643	0.32378	0.0:1.0:0.0:0.0	.	.	.	.	Y	424	ENSP00000382982:D424Y	ENSP00000382982:D424Y	D	-	1	0	TUBA3C	18646086	1.000000	0.71417	0.996000	0.52242	0.231000	0.25187	6.395000	0.73228	0.982000	0.38575	0.194000	0.17425	GAC		PASS	0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		52	155	52	155	---	---	---	---
IFT88	8100	broad.mit.edu	37	13	21163959	21163959	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr13:21163959A>G	ENST00000319980.6	+	6	517	c.190A>G	c.(190-192)Aaa>Gaa	p.K64E	IFT88_ENST00000351808.5_Missense_Mutation_p.K55E|IFT88_ENST00000537103.1_Intron|IFT88_ENST00000382778.4_Missense_Mutation_p.K64E	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	64					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.K64E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GATAACTGCTAAAATATCAAG	0.328																																						uc001unh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(190-192)AAA>GAA		intraflagellar transport 88 homolog isoform 1							78.0	78.0	78.0					13																	21163959		2203	4298	6501	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21163959A>G	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.190A>G	13.37:g.21163959A>G	ENSP00000323580:p.Lys64Glu					IFT88_uc001uni.2_Missense_Mutation_p.K55E|IFT88_uc001unj.2_Missense_Mutation_p.K54E|IFT88_uc010tcq.1_Intron	p.K64E	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	6	586	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	64					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.190A>G	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027917	0.75390	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980	T;T;T	0.34072	1.38;1.42;1.41	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.64997	1.995	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.53457	-0.8436	10	0.45353	T	0.12	-31.3148	12.9754	0.58534	1.0:0.0:0.0:0.0	.	64	Q13099	IFT88_HUMAN	E	64;55;64	ENSP00000372228:K64E;ENSP00000261632:K55E;ENSP00000323580:K64E	ENSP00000323580:K64E	K	+	1	0	IFT88	20061959	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.481000	0.66826	1.988000	0.58038	0.533000	0.62120	AAA		PASS	0.328	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		27	58	27	58	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23911629	23911629	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr13:23911629C>A	ENST00000382292.3	-	9	6659	c.6386G>T	c.(6385-6387)gGg>gTg	p.G2129V	SACS_ENST00000382298.3_Missense_Mutation_p.G2129V|SACS_ENST00000402364.1_Missense_Mutation_p.G1379V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2129					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.G1982V(1)|p.G2129V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGGAATCTCCCATCTTTAAT	0.378																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(6385-6387)GGG>GTG		sacsin							52.0	56.0	55.0					13																	23911629		2203	4297	6500	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911629C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6386G>T	13.37:g.23911629C>A	ENSP00000371729:p.Gly2129Val					SACS_uc001uoo.2_Missense_Mutation_p.G1982V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.G2129V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6975	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2129					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.6386G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870141	0.33069	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88818	-2.28;-2.43;-2.28	5.84	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.92782	0.7705	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93461	0.6810	10	0.87932	D	0	.	14.9133	0.70776	0.0:0.9314:0.0:0.0686	.	2129	Q9NZJ4	SACS_HUMAN	V	2129;1379;2129	ENSP00000371729:G2129V;ENSP00000385844:G1379V;ENSP00000371735:G2129V	ENSP00000371729:G2129V	G	-	2	0	SACS	22809629	1.000000	0.71417	0.893000	0.35052	0.042000	0.13812	7.487000	0.81328	1.472000	0.48140	-0.136000	0.14681	GGG		PASS	0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		39	109	39	109	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32914593	32914593	+	Missense_Mutation	SNP	G	G	A	rs80358849		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr13:32914593G>A	ENST00000380152.3	+	11	6334	c.6101G>A	c.(6100-6102)cGt>cAt	p.R2034H	BRCA2_ENST00000544455.1_Missense_Mutation_p.R2034H			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2034			R -> C (in dbSNP:rs1799954). {ECO:0000269|PubMed:12215251, ECO:0000269|PubMed:12569143, ECO:0000269|PubMed:8673091}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.R2034H(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTGCTATACGTACTCCAGAA	0.348			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	GRCh37	CM074720	BRCA2	M	rs80358849	c.(6100-6102)CGT>CAT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							62.0	62.0	62.0					13																	32914593		2203	4299	6502	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914593G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6101G>A	13.37:g.32914593G>A	ENSP00000369497:p.Arg2034His	TCGA Ovarian(8;0.087)					p.R2034H	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6328	+		Lung SC(185;0.0262)	2034					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6101G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.617019	0.00118	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00686	5.85;5.85	5.61	0.568	0.17333	.	0.981833	0.08353	N	0.958965	T	0.00328	0.0010	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	10	0.08179	T	0.78	.	5.2799	0.15670	0.6081:0.0:0.2723:0.1196	.	2034	P51587	BRCA2_HUMAN	H	2034	ENSP00000369497:R2034H;ENSP00000439902:R2034H	ENSP00000369497:R2034H	R	+	2	0	BRCA2	31812593	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.048000	0.14078	0.094000	0.17404	-0.294000	0.09567	CGT		PASS	0.348	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		42	117	42	117	---	---	---	---
ALG5	29880	broad.mit.edu	37	13	37539757	37539757	+	Missense_Mutation	SNP	C	C	A	rs556818916		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr13:37539757C>A	ENST00000239891.3	-	8	794	c.728G>T	c.(727-729)cGa>cTa	p.R243L	ALG5_ENST00000413537.2_3'UTR|ALG5_ENST00000443765.1_Missense_Mutation_p.R213L	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	243					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)	p.R243L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		AGCTGCTTCTCGAGTAAATAA	0.448																																						uc001uvy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)CGA>CTA		dolichyl-phosphate beta-glucosyltransferase							133.0	124.0	127.0					13																	37539757		2203	4300	6503	SO:0001583	missense	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37539757C>A	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.728G>T	13.37:g.37539757C>A	ENSP00000239891:p.Arg243Leu					ALG5_uc010teq.1_Missense_Mutation_p.R213L|ALG5_uc010ter.1_RNA	p.R243L	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	8	795	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	243			Lumenal (Potential).		B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.728G>T	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412289	0.96072	.	.	ENSG00000120697	ENST00000443765;ENST00000239891	T;T	0.68624	-0.34;-0.34	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86734	0.1950	10	0.66056	D	0.02	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	213;243	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	L	213;243	ENSP00000390533:R213L;ENSP00000239891:R243L	ENSP00000239891:R243L	R	-	2	0	ALG5	36437757	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.794000	0.85869	2.873000	0.98535	0.561000	0.74099	CGA		PASS	0.448	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		4	224	4	224	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454001	84454001	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr13:84454001C>A	ENST00000377084.2	-	1	2527	c.1642G>T	c.(1642-1644)Ggt>Tgt	p.G548C		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	548	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.G548C(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACTTCGGAACCCAAGCGTTCT	0.532																																						uc001vlk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1642-1644)GGT>TGT		slit and trk like 1 protein precursor							59.0	55.0	56.0					13																	84454001		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454001C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1642G>T	13.37:g.84454001C>A	ENSP00000366288:p.Gly548Cys						p.G548C	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2528	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	548			LRRCT 2.|Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1642G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664245	0.47572	.	.	ENSG00000178235	ENST00000377084	T	0.54071	0.59	5.22	5.22	0.72569	Cysteine-rich flanking region, C-terminal (1);	0.109400	0.64402	D	0.000010	T	0.52175	0.1718	L	0.46157	1.445	0.50467	D	0.999872	P	0.42556	0.783	P	0.44359	0.447	T	0.56475	-0.7973	10	0.66056	D	0.02	-7.4188	14.2667	0.66123	0.0:0.85:0.15:0.0	.	548	Q96PX8	SLIK1_HUMAN	C	548	ENSP00000366288:G548C	ENSP00000366288:G548C	G	-	1	0	SLITRK1	83352002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.511000	0.53400	2.603000	0.88011	0.655000	0.94253	GGT		PASS	0.532	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		21	52	21	52	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329379	88329379	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr13:88329379A>T	ENST00000325089.6	+	2	1955	c.1736A>T	c.(1735-1737)gAg>gTg	p.E579V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.E338V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	579	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.E579V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTGTGGGTGGAGCAGCTCAAA	0.527																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1735-1737)GAG>GTG		SLIT and NTRK-like family, member 5 precursor							154.0	139.0	144.0					13																	88329379		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329379A>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1736A>T	13.37:g.88329379A>T	ENSP00000366283:p.Glu579Val					SLITRK5_uc010tic.1_Missense_Mutation_p.E338V	p.E579V	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1955	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		579			LRRCT 2.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1736A>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380172	0.61845	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.55930	0.71;0.49	5.26	5.26	0.73747	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77287	0.4108	M	0.91196	3.185	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.82564	-0.0394	9	.	.	.	-16.2585	13.1122	0.59278	1.0:0.0:0.0:0.0	.	338;579	B4DSH5;O94991	.;SLIK5_HUMAN	V	579;338	ENSP00000366283:E579V;ENSP00000442244:E338V	.	E	+	2	0	SLITRK5	87127380	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.335000	0.96500	1.977000	0.57605	0.454000	0.30748	GAG		PASS	0.527	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			24	243	24	243	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329602	88329602	+	Silent	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr13:88329602C>G	ENST00000325089.6	+	2	2178	c.1959C>G	c.(1957-1959)ggC>ggG	p.G653G	SLITRK5_ENST00000400028.3_Silent_p.G412G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	653					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.G653G(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGAGCTTGGGCGCAGGCGGAG	0.652																																						uc001vln.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1957-1959)GGC>GGG		SLIT and NTRK-like family, member 5 precursor							69.0	75.0	73.0					13																	88329602		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329602C>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1959C>G	13.37:g.88329602C>G						SLITRK5_uc010tic.1_Silent_p.G412G	p.G653G	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2178	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		653			Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1959C>G	CCDS9465.1																																																																																				PASS	0.652	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			19	60	19	60	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20403890	20403890	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr14:20403890G>T	ENST00000285600.4	+	1	124	c.65G>T	c.(64-66)gGa>gTa	p.G22V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G22V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AATTCCTGGGGACTTCAACTT	0.353																																						uc001vwj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(64-66)GGA>GTA		olfactory receptor, family 4, subfamily K,							356.0	396.0	383.0					14																	20403890		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20403890G>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.65G>T	14.37:g.20403890G>T	ENSP00000285600:p.Gly22Val						p.G22V	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	65	+	all_cancers(95;0.00108)		22			Extracellular (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.65G>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	2.851	-0.238313	0.05944	.	.	ENSG00000155249	ENST00000285600	T	0.00438	7.42	4.77	0.424	0.16468	.	0.385559	0.22204	N	0.063193	T	0.00241	0.0007	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.17098	0.017	T	0.44667	-0.9313	10	0.59425	D	0.04	.	5.6565	0.17644	0.4069:0.1648:0.4283:0.0	.	22	Q8NGD4	OR4K1_HUMAN	V	22	ENSP00000285600:G22V	ENSP00000285600:G22V	G	+	2	0	OR4K1	19473730	0.000000	0.05858	0.020000	0.16555	0.109000	0.19521	0.468000	0.22051	-0.351000	0.08249	-0.361000	0.07541	GGA		PASS	0.353	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			52	834	52	834	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20404050	20404050	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr14:20404050C>A	ENST00000285600.4	+	1	284	c.225C>A	c.(223-225)aaC>aaA	p.N75K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N75K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTCAGTCTAACTTTGCCACCC	0.378																																						uc001vwj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(223-225)AAC>AAA		olfactory receptor, family 4, subfamily K,							218.0	230.0	226.0					14																	20404050		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404050C>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.225C>A	14.37:g.20404050C>A	ENSP00000285600:p.Asn75Lys						p.N75K	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	225	+	all_cancers(95;0.00108)		75			Helical; Name=2; (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.225C>A	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	11.76	1.734588	0.30774	.	.	ENSG00000155249	ENST00000285600	T	0.00392	7.58	4.94	-0.0869	0.13679	GPCR, rhodopsin-like superfamily (1);	0.208574	0.33772	N	0.004562	T	0.00210	0.0006	L	0.38175	1.15	0.09310	N	0.999994	B	0.20459	0.045	B	0.20184	0.028	T	0.46938	-0.9155	10	0.87932	D	0	.	4.4253	0.11500	0.1507:0.4114:0.0:0.4378	.	75	Q8NGD4	OR4K1_HUMAN	K	75	ENSP00000285600:N75K	ENSP00000285600:N75K	N	+	3	2	OR4K1	19473890	0.000000	0.05858	0.901000	0.35422	0.996000	0.88848	-2.387000	0.01060	0.029000	0.15352	0.655000	0.94253	AAC		PASS	0.378	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			105	451	105	451	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20444630	20444630	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr14:20444630T>C	ENST00000305051.5	+	1	1028	c.953T>C	c.(952-954)gTg>gCg	p.V318A		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V318A(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AACAAAGAAGTGAAGGCAGCT	0.383																																						uc010tkx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)GTG>GCG		olfactory receptor, family 4, subfamily K,							78.0	80.0	79.0					14																	20444630		2202	4299	6501	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444630T>C		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.953T>C	14.37:g.20444630T>C	ENSP00000304077:p.Val318Ala						p.V318A	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	953	+	all_cancers(95;0.00108)		318			Cytoplasmic (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.953T>C	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	12.01	1.808666	0.31961	.	.	ENSG00000169488	ENST00000305051	T	0.39592	1.07	3.69	3.69	0.42338	.	0.578633	0.15482	N	0.260045	T	0.40743	0.1129	L	0.46670	1.46	0.09310	N	1	P	0.35139	0.486	B	0.40038	0.317	T	0.39418	-0.9615	10	0.87932	D	0	.	10.609	0.45410	0.0:0.0:0.0:1.0	.	318	Q8NH41	OR4KF_HUMAN	A	318	ENSP00000304077:V318A	ENSP00000304077:V318A	V	+	2	0	OR4K15	19514470	0.145000	0.22656	0.341000	0.25589	0.975000	0.68041	3.207000	0.51106	1.665000	0.50811	0.482000	0.46254	GTG		PASS	0.383	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			29	120	29	120	---	---	---	---
PYGL	5836	broad.mit.edu	37	14	51398405	51398405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr14:51398405G>A	ENST00000216392.7	-	4	846	c.514C>T	c.(514-516)Cga>Tga	p.R172*	PYGL_ENST00000532462.1_Nonsense_Mutation_p.R172*|PYGL_ENST00000544180.2_Nonsense_Mutation_p.R138*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	172					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.R172*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CATCCATCTCGGATCTTCTGA	0.413																																						uc001wyu.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(514-516)CGA>TGA		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						109.0	102.0	104.0					14																	51398405		2203	4300	6503	SO:0001587	stop_gained	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51398405G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.514C>T	14.37:g.51398405G>A	ENSP00000216392:p.Arg172*					PYGL_uc010tqq.1_Nonsense_Mutation_p.R138*|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Nonsense_Mutation_p.R172*	p.R172*	NM_002863	NP_002854	P06737	PYGL_HUMAN			4	641	-	all_epithelial(31;0.00825)|Breast(41;0.148)		172					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Nonsense_Mutation	SNP	ENST00000216392.7	37	c.514C>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	G	40	8.068219	0.98638	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	.	.	.	5.66	3.77	0.43336	.	0.165297	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	0.4086	9.5976	0.39584	0.0:0.2921:0.557:0.1509	.	.	.	.	X	172;138;172	.	ENSP00000216392:R172X	R	-	1	2	PYGL	50468155	0.835000	0.29415	0.999000	0.59377	0.995000	0.86356	1.279000	0.33191	0.805000	0.34159	0.655000	0.94253	CGA		PASS	0.413	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		69	154	69	154	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58790254	58790254	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr14:58790254G>T	ENST00000355431.3	+	8	874	c.501G>T	c.(499-501)aaG>aaT	p.K167N	ARID4A_ENST00000348476.3_Missense_Mutation_p.K167N|ARID4A_ENST00000431317.2_Missense_Mutation_p.K167N|ARID4A_ENST00000395168.3_Missense_Mutation_p.K167N	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	167					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K167N(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATGAAGACAAGCGCCGTCTCA	0.373																																						uc001xdp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|lung(1)	6						c.(499-501)AAG>AAT		retinoblastoma-binding protein 1 isoform I							146.0	137.0	140.0					14																	58790254		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58790254G>T	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.501G>T	14.37:g.58790254G>T	ENSP00000347602:p.Lys167Asn					ARID4A_uc001xdo.2_Missense_Mutation_p.K167N|ARID4A_uc001xdq.2_Missense_Mutation_p.K167N	p.K167N	NM_002892	NP_002883	P29374	ARI4A_HUMAN			8	755	+			167					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.501G>T	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310022	0.60414	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.15718	2.4;2.4;2.41;2.4	5.44	2.63	0.31362	.	0.245701	0.47852	D	0.000204	T	0.27313	0.0670	L	0.36672	1.1	0.48236	D	0.999615	D;D;D	0.76494	0.999;0.999;0.988	D;D;P	0.72338	0.977;0.958;0.885	T	0.00624	-1.1639	10	0.49607	T	0.09	-21.2721	9.6152	0.39687	0.3391:0.0:0.6609:0.0	.	167;167;167	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	N	167;167;167;130;167	ENSP00000347602:K167N;ENSP00000344556:K167N;ENSP00000378597:K167N;ENSP00000397368:K167N	ENSP00000344556:K167N	K	+	3	2	ARID4A	57860007	0.972000	0.33761	0.965000	0.40720	0.860000	0.49131	0.173000	0.16724	0.364000	0.24374	-0.119000	0.15052	AAG		PASS	0.373	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		54	92	54	92	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64421613	64421613	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr14:64421613C>A	ENST00000344113.4	+	8	979	c.767C>A	c.(766-768)cCc>cAc	p.P256H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000341472.5_Missense_Mutation_p.P256H|SYNE2_ENST00000554584.1_Missense_Mutation_p.P256H|SYNE2_ENST00000356081.3_Missense_Mutation_p.P256H|SYNE2_ENST00000358025.3_Missense_Mutation_p.P256H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	256	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.P256H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTAAAAATCCCCAGATTGCTG	0.358																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(766-768)CCC>CAC		spectrin repeat containing, nuclear envelope 2							80.0	71.0	73.0					14																	64421613		1813	4082	5895	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64421613C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.767C>A	14.37:g.64421613C>A	ENSP00000341781:p.Pro256His					SYNE2_uc001xgk.2_Missense_Mutation_p.P256H|SYNE2_uc001xgl.2_Missense_Mutation_p.P256H	p.P256H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	8	997	+			256			CH 2.|Cytoplasmic (Potential).|Actin-binding.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.767C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948084	0.34377	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74	5.19	5.19	0.71726	Calponin homology domain (5);	0.122334	0.36444	N	0.002585	D	0.98194	0.9403	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99081	1.0837	10	0.87932	D	0	.	19.0856	0.93202	0.0:1.0:0.0:0.0	.	256;256;256	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	H	256	ENSP00000350719:P256H;ENSP00000341781:P256H;ENSP00000344528:P256H;ENSP00000348382:P256H;ENSP00000452570:P256H	ENSP00000261678:P256H	P	+	2	0	SYNE2	63491366	1.000000	0.71417	0.993000	0.49108	0.022000	0.10575	7.400000	0.79949	2.574000	0.86865	0.650000	0.86243	CCC		PASS	0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		41	57	41	57	---	---	---	---
ZBTB1	22890	broad.mit.edu	37	14	64989632	64989632	+	Silent	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr14:64989632T>C	ENST00000554015.1	+	4	1841	c.1410T>C	c.(1408-1410)tgT>tgC	p.C470C	ZBTB1_ENST00000394712.2_Silent_p.C470C|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Silent_p.C470C			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	470					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.C470C(2)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CTCAACGATGTGGCGAGCCCC	0.423																																						uc001xhh.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1408-1410)TGT>TGC		zinc finger and BTB domain containing 1 isoform							112.0	110.0	110.0					14																	64989632		2203	4300	6503	SO:0001819	synonymous_variant	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64989632T>C	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1410T>C	14.37:g.64989632T>C						ZBTB1_uc010aqg.2_Silent_p.C470C|ZBTB1_uc001xhi.2_Silent_p.C470C	p.C470C	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	4	1841	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	470			C2H2-type 2; atypical.		A8K6S8|Q86SW8	Silent	SNP	ENST00000554015.1	37	c.1410T>C	CCDS45126.1																																																																																				PASS	0.423	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			65	153	65	153	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921782	95921782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr14:95921782C>A	ENST00000334258.5	-	5	1083	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*	SYNE3_ENST00000557275.1_Nonsense_Mutation_p.E357*|SYNE3_ENST00000554873.1_Nonsense_Mutation_p.E114*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.E357*	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	357					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.E357*(3)		breast(1)|endometrium(2)|lung(25)	28						TGCAGGCCCTCCTGGGCCAGC	0.667																																						uc001yei.3																			3	Substitution - Nonsense(3)		lung(3)	central_nervous_system(1)	1						c.(1069-1071)GAG>TAG		nesprin-3							27.0	32.0	30.0					14																	95921782		2203	4299	6502	SO:0001587	stop_gained	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95921782C>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1069G>T	14.37:g.95921782C>A	ENSP00000334308:p.Glu357*					C14orf49_uc010avi.2_Nonsense_Mutation_p.E357*|C14orf49_uc001yej.1_Nonsense_Mutation_p.E357*	p.E357*	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	5	1084	-		all_cancers(154;0.0937)	357			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Nonsense_Mutation	SNP	ENST00000334258.5	37	c.1069G>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428269	0.96131	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	.	.	.	4.99	0.972	0.19704	.	0.183165	0.26193	N	0.025800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-11.9516	5.2972	0.15758	0.0:0.4731:0.2759:0.251	.	.	.	.	X	357;114;357;357	.	ENSP00000334308:E357X	E	-	1	0	C14orf49	94991535	0.008000	0.16893	0.019000	0.16419	0.015000	0.08874	0.126000	0.15769	0.129000	0.18514	0.455000	0.32223	GAG		PASS	0.667	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		6	46	6	46	---	---	---	---
EML1	2009	broad.mit.edu	37	14	100331948	100331948	+	Silent	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr14:100331948G>T	ENST00000262233.6	+	3	487	c.348G>T	c.(346-348)ggG>ggT	p.G116G	EML1_ENST00000327921.9_Silent_p.G85G|EML1_ENST00000556758.1_3'UTR|EML1_ENST00000334192.4_Silent_p.G116G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	116					brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.G116G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCCCCTCCGGGGTCAGGAAAG	0.498																																						uc001ygs.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(346-348)GGG>GGT		echinoderm microtubule associated protein like 1							54.0	53.0	53.0					14																	100331948		2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100331948G>T	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.348G>T	14.37:g.100331948G>T						EML1_uc010avt.1_Silent_p.G103G|EML1_uc010tww.1_Silent_p.G85G|EML1_uc001ygq.2_Silent_p.G116G|EML1_uc001ygr.2_Silent_p.G116G	p.G116G	NM_004434	NP_004425	O00423	EMAL1_HUMAN			3	417	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	116					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.348G>T	CCDS32155.1																																																																																				PASS	0.498	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		17	69	17	69	---	---	---	---
CRIP2	1397	broad.mit.edu	37	14	105945787	105945787	+	Silent	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr14:105945787C>G	ENST00000329146.4	+	7	1229	c.516C>G	c.(514-516)ccC>ccG	p.P172P	CRIP2_ENST00000483017.3_Silent_p.P246P|CRIP2_ENST00000548989.1_3'UTR	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	172	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)	p.P172P(1)		lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		ACGGCCAGCCCTACTGCCACA	0.642																																						uc001yrd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(514-516)CCC>CCG		cysteine-rich protein 2							132.0	122.0	125.0					14																	105945787		2201	4300	6501	SO:0001819	synonymous_variant	1397						zinc ion binding	g.chr14:105945787C>G		CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.516C>G	14.37:g.105945787C>G						CRIP2_uc010tyr.1_Silent_p.P246P|CRIP2_uc001yre.1_Silent_p.P244P|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA	p.P172P	NM_001312	NP_001303	P52943	CRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)	7	585	+		Melanoma(154;0.226)	172			LIM zinc-binding 2.		A1A4U1|B7Z6C0|E9PD13	Silent	SNP	ENST00000329146.4	37	c.516C>G	CCDS10003.1	.	.	.	.	.	.	.	.	.	.	c	7.252	0.603502	0.14002	.	.	ENSG00000182809	ENST00000550577;ENST00000538259	.	.	.	4.05	0.852	0.18995	.	.	.	.	.	T	0.53850	0.1822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44967	-0.9293	4	.	.	.	-2.1316	6.8375	0.23945	0.1509:0.6627:0.0:0.1864	.	.	.	.	V	68;156	.	.	L	+	1	2	CRIP2	105016832	0.138000	0.22547	1.000000	0.80357	0.656000	0.38851	-0.671000	0.05250	0.369000	0.24510	-0.676000	0.03789	CTA		PASS	0.642	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074597.3	NM_001312		10	111	10	111	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382732	22382732	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr15:22382732C>A	ENST00000328795.4	+	1	351	c.260C>A	c.(259-261)tCt>tAt	p.S87Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S87Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTTCCTCTCTGAGAAAAAG	0.507																																						uc001yuc.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(259-261)TCT>TAT		olfactory receptor, family 4, subfamily N,							68.0	68.0	68.0					15																	22382732		2203	4291	6494	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382732C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.260C>A	15.37:g.22382732C>A	ENSP00000332500:p.Ser87Tyr					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.S87Y	p.S87Y	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1241	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	87			Extracellular (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.260C>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	1.779	-0.482517	0.04383	.	.	ENSG00000183706	ENST00000328795	T	0.00411	7.53	3.2	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.297179	0.24642	N	0.036799	T	0.00300	0.0009	M	0.73430	2.235	0.26314	N	0.977786	B	0.12013	0.005	B	0.13407	0.009	T	0.53774	-0.8391	10	0.02654	T	1	-16.3637	3.5018	0.07676	0.2494:0.6113:0.0:0.1393	.	87	Q8N0Y3	OR4N4_HUMAN	Y	87	ENSP00000332500:S87Y	ENSP00000332500:S87Y	S	+	2	0	OR4N4	19884096	0.000000	0.05858	1.000000	0.80357	0.059000	0.15707	-1.652000	0.01988	1.793000	0.52555	0.184000	0.17185	TCT		PASS	0.507	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			18	258	18	258	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40280230	40280230	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr15:40280230G>A	ENST00000263791.5	+	15	2493	c.2450G>A	c.(2449-2451)gGa>gAa	p.G817E	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.G789E	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	817	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.G817E(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ATTGACCAGGGACTGTATCGA	0.398																																						uc001zkm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|skin(1)	4						c.(2449-2451)GGA>GAA		eukaryotic translation initiation factor 2 alpha							160.0	150.0	153.0					15																	40280230		1891	4122	6013	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40280230G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2450G>A	15.37:g.40280230G>A	ENSP00000263791:p.Gly817Glu					EIF2AK4_uc010bbj.1_Missense_Mutation_p.G518E	p.G817E	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	15	2500	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	817			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.2450G>A	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744689	0.89663	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.63913	-0.07;-0.07	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054916	0.64402	D	0.000001	T	0.74465	0.3720	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75283	-0.3372	10	0.72032	D	0.01	-19.2442	19.6699	0.95907	0.0:0.0:1.0:0.0	.	817	Q9P2K8	E2AK4_HUMAN	E	817;789	ENSP00000263791:G817E;ENSP00000372174:G789E	ENSP00000263791:G817E	G	+	2	0	EIF2AK4	38067522	1.000000	0.71417	0.987000	0.45799	0.945000	0.59286	5.219000	0.65262	2.759000	0.94783	0.591000	0.81541	GGA		PASS	0.398	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			26	185	26	185	---	---	---	---
DECR2	26063	broad.mit.edu	37	16	460303	460303	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:460303T>A	ENST00000219481.5	+	5	536	c.398T>A	c.(397-399)gTg>gAg	p.V133E	DECR2_ENST00000424398.2_Missense_Mutation_p.V121E|DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000397710.1_Silent_p.R195R	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	133					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)	p.R195R(1)|p.V133E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TTCAAGACCGTGATGGACATC	0.607																																						uc002chb.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(397-399)GTG>GAG		2,4-dienoyl CoA reductase 2							109.0	88.0	95.0					16																	460303		2202	4300	6502	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:460303T>A	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.398T>A	16.37:g.460303T>A	ENSP00000219481:p.Val133Glu					DECR2_uc002chc.2_Missense_Mutation_p.V49E|DECR2_uc010bqv.2_Missense_Mutation_p.V49E|DECR2_uc002chd.2_Missense_Mutation_p.V49E|DECR2_uc002che.1_RNA	p.V133E	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN			5	504	+		Hepatocellular(16;0.00015)	133					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.398T>A	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789709	0.90367	.	.	ENSG00000242612	ENST00000219481;ENST00000424398	T;T	0.26223	1.75;1.75	5.66	5.66	0.87406	NAD(P)-binding domain (1);	0.055071	0.64402	D	0.000001	T	0.60170	0.2248	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70092	-0.4967	10	0.87932	D	0	.	15.0569	0.71921	0.0:0.0:0.0:1.0	.	133	Q9NUI1	DECR2_HUMAN	E	133;121	ENSP00000219481:V133E;ENSP00000400374:V121E	ENSP00000219481:V133E	V	+	2	0	DECR2	400304	1.000000	0.71417	0.937000	0.37676	0.674000	0.39518	7.867000	0.87062	2.163000	0.67991	0.459000	0.35465	GTG		PASS	0.607	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		15	91	15	91	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1607944	1607944	+	Silent	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:1607944G>T	ENST00000426508.2	-	19	2754	c.2391C>A	c.(2389-2391)ctC>ctA	p.L797L	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	797					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.L797L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCTTTTGATGAGCTTGATGG	0.547																																						uc002cmb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2389-2391)CTC>CTA		intraflagellar transport 140							173.0	163.0	166.0					16																	1607944		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1607944G>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2391C>A	16.37:g.1607944G>T						IFT140_uc002clz.2_Silent_p.L448L	p.L797L	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			19	2753	-		Hepatocellular(780;0.219)	797			TPR 1.		A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.2391C>A	CCDS10439.1																																																																																				PASS	0.547	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		22	333	22	333	---	---	---	---
MMP25	64386	broad.mit.edu	37	16	3107201	3107201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:3107201C>T	ENST00000336577.4	+	5	1066	c.829C>T	c.(829-831)Caa>Taa	p.Q277*	RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	281					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q277*(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	TGGCCTGCAGCAACTCTATGG	0.622																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	uc002cth.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(829-831)CAA>TAA		matrix metalloproteinase 25 preproprotein							104.0	110.0	108.0					16																	3107201		2197	4300	6497	SO:0001587	stop_gained	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3107201C>T	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.829C>T	16.37:g.3107201C>T	ENSP00000337816:p.Gln277*					uc002ctj.1_Intron	p.Q277*	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN			5	1066	+			277					Q96F04|Q96TE2	Nonsense_Mutation	SNP	ENST00000336577.4	37	c.829C>T	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	c	35	5.470317	0.96274	.	.	ENSG00000008516	ENST00000336577	.	.	.	4.67	4.67	0.58626	.	0.000000	0.47455	D	0.000227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	10.3621	0.44001	0.196:0.8039:0.0:0.0	.	.	.	.	X	277	.	ENSP00000337816:Q277X	Q	+	1	0	MMP25	3047202	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	1.435000	0.34969	2.156000	0.67533	0.306000	0.20318	CAA		PASS	0.622	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		16	153	16	153	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20788733	20788733	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:20788733A>G	ENST00000289416.5	+	4	944	c.469A>G	c.(469-471)Aaa>Gaa	p.K157E	ACSM3_ENST00000450120.2_Missense_Mutation_p.K112E|ACSM3_ENST00000440284.2_Missense_Mutation_p.K157E	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	157					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.K157E(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GCTGACCCAGAAAGACATTCT	0.388																																						uc002dhr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(469-471)AAA>GAA		SA hypertension-associated homolog isoform 1							87.0	85.0	86.0					16																	20788733		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20788733A>G	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.469A>G	16.37:g.20788733A>G	ENSP00000289416:p.Lys157Glu					ACSM3_uc002dhq.2_Missense_Mutation_p.K157E|ACSM3_uc010vba.1_Missense_Mutation_p.K149E	p.K157E	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			4	656	+			157					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.469A>G	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.484039	0.63962	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.35236	1.32;1.32;1.32	6.05	6.05	0.98169	AMP-dependent synthetase/ligase (1);	0.378782	0.29587	N	0.011728	T	0.48857	0.1523	L	0.35487	1.065	0.39606	D	0.969817	D;D;D	0.65815	0.992;0.986;0.995	D;D;D	0.65233	0.911;0.933;0.923	T	0.48186	-0.9057	10	0.49607	T	0.09	-21.6577	16.5932	0.84781	1.0:0.0:0.0:0.0	.	112;157;157	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	E	157;157;112	ENSP00000289416:K157E;ENSP00000394565:K157E;ENSP00000395297:K112E	ENSP00000289416:K157E	K	+	1	0	ACSM3	20696234	0.995000	0.38212	1.000000	0.80357	0.165000	0.22458	2.284000	0.43478	2.320000	0.78422	0.528000	0.53228	AAA		PASS	0.388	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		15	189	15	189	---	---	---	---
OTOA	146183	broad.mit.edu	37	16	21721274	21721274	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:21721274G>A	ENST00000286149.4	+	12	1213	c.1212G>A	c.(1210-1212)ttG>ttA	p.L404L	OTOA_ENST00000388957.3_Silent_p.L66L|OTOA_ENST00000388958.3_Silent_p.L390L|OTOA_ENST00000388956.4_Silent_p.L311L			Q7RTW8	OTOAN_HUMAN	otoancorin	404					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.L390L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGGTTCTTTGTCGGATGCAG	0.547																																						uc002djh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1168-1170)TTG>TTA		otoancorin isoform 1							81.0	80.0	80.0					16																	21721274		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21721274G>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1212G>A	16.37:g.21721274G>A						uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.L311L|OTOA_uc002dji.2_Silent_p.L66L|OTOA_uc010vbk.1_Silent_p.L38L	p.L390L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	12	1171	+			404					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.1170G>A																																																																																					PASS	0.547	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			9	93	9	93	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25255279	25255279	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:25255279C>A	ENST00000328086.7	-	6	2611	c.1808G>T	c.(1807-1809)aGg>aTg	p.R603M		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	603					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R603M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTTTCTTGCCTTGAAGGTGA	0.542																																						uc002dod.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1807-1809)AGG>ATG		zinc finger with KRAB and SCAN domains 2							132.0	120.0	124.0					16																	25255279		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255279C>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1808G>T	16.37:g.25255279C>A	ENSP00000331626:p.Arg603Met					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R399M	p.R603M	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2215	-			603					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1808G>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058834	0.36277	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.08282	3.11	5.48	4.52	0.55395	.	0.597682	0.17321	N	0.178485	T	0.06872	0.0175	L	0.29908	0.895	0.30603	N	0.760285	B;B	0.34015	0.232;0.435	B;B	0.30105	0.111;0.111	T	0.10177	-1.0641	10	0.33940	T	0.23	-0.0894	11.6035	0.51017	0.1912:0.8088:0.0:0.0	.	399;603	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	M	603	ENSP00000331626:R603M	ENSP00000331626:R603M	R	-	2	0	ZKSCAN2	25162780	0.681000	0.27614	0.970000	0.41538	0.837000	0.47467	1.471000	0.35365	1.414000	0.47017	0.655000	0.94253	AGG		PASS	0.542	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		84	193	84	193	---	---	---	---
HS3ST4	9951	broad.mit.edu	37	16	26147076	26147076	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:26147076G>C	ENST00000331351.5	+	2	1270	c.878G>C	c.(877-879)aGg>aCg	p.R293T	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	293					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.R293T(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCCGTGACCAGGGCCATCTCT	0.527																																						uc002dof.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)	2						c.(877-879)AGG>ACG		heparan sulfate D-glucosaminyl							147.0	136.0	140.0					16																	26147076		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147076G>C	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.878G>C	16.37:g.26147076G>C	ENSP00000330606:p.Arg293Thr						p.R293T	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1270	+			293			Lumenal (Potential).|PAPS and substrate (By similarity).		Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.878G>C	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697020	0.88830	.	.	ENSG00000182601	ENST00000331351	T	0.62232	0.04	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000004	D	0.86615	0.5975	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91148	0.4951	10	0.87932	D	0	.	18.0433	0.89325	0.0:0.0:1.0:0.0	.	293	Q9Y661	HS3S4_HUMAN	T	293	ENSP00000330606:R293T	ENSP00000330606:R293T	R	+	2	0	HS3ST4	26054577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.491000	0.84063	0.655000	0.94253	AGG		PASS	0.527	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		71	171	71	171	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31419188	31419188	+	Silent	SNP	C	C	T	rs145577588		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:31419188C>T	ENST00000389202.2	+	9	1009	c.960C>T	c.(958-960)gcC>gcT	p.A320A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	320	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.A320A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACTTTGCAGCCCTTGGCAGCA	0.587																																						uc002ebv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(958-960)GCC>GCT		integrin, alpha D precursor		C		1,4393	2.1+/-5.4	0,1,2196	64.0	61.0	62.0		960	-10.0	0.0	16	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous	ITGAD	NM_005353.2		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		320/1162	31419188	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31419188C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.960C>T	16.37:g.31419188C>T						ITGAD_uc010vfl.1_Missense_Mutation_p.P353S|ITGAD_uc010cap.1_Silent_p.A320A|ITGAD_uc002ebw.1_Missense_Mutation_p.P164S	p.A320A	NM_005353	NP_005344	Q13349	ITAD_HUMAN			9	1009	+			320			Extracellular (Potential).|VWFA.		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.960C>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	c	5.407	0.260331	0.10239	2.28E-4	0.0	ENSG00000156886	ENST00000316569	.	.	.	5.01	-10.0	0.00425	.	.	.	.	.	T	0.25457	0.0619	.	.	.	0.22656	N	0.998882	B	0.12013	0.005	B	0.09377	0.004	T	0.37798	-0.9690	7	0.87932	D	0	.	8.4065	0.32619	0.1101:0.6606:0.0779:0.1514	.	353	B7Z6V7	.	S	217	.	ENSP00000323325:P217S	P	+	1	0	ITGAD	31326689	0.000000	0.05858	0.004000	0.12327	0.650000	0.38633	-3.389000	0.00488	-2.164000	0.00782	-1.427000	0.01099	CCT		PASS	0.587	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		12	111	12	111	---	---	---	---
ARMC5	79798	broad.mit.edu	37	16	31473727	31473727	+	Missense_Mutation	SNP	G	G	T	rs118073437		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:31473727G>T	ENST00000563544.1	+	4	1405	c.859G>T	c.(859-861)Gtc>Ttc	p.V287F	ARMC5_ENST00000538189.1_Missense_Mutation_p.V319F|ARMC5_ENST00000408912.3_Missense_Mutation_p.V382F|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.V287F|ARMC5_ENST00000457010.2_Missense_Mutation_p.V287F			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	287								p.V287F(1)|p.V382F(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGCCCACTCGTCAGCCTGGC	0.652																																						uc002ecc.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(859-861)GTC>TTC		armadillo repeat containing 5 isoform a							32.0	36.0	35.0					16																	31473727		2084	4220	6304	SO:0001583	missense	79798						binding	g.chr16:31473727G>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.859G>T	16.37:g.31473727G>T	ENSP00000456877:p.Val287Phe					ARMC5_uc010vfn.1_Missense_Mutation_p.V382F|ARMC5_uc010vfo.1_Missense_Mutation_p.V319F|ARMC5_uc002eca.3_Missense_Mutation_p.V287F|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.V287F	p.V287F	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			3	1388	+			287			ARM 4.		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.859G>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	g	19.68	3.872143	0.72180	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	4.51	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.064061	0.64402	D	0.000008	T	0.69196	0.3084	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.91635	0.961;0.961;0.961;0.999	T	0.73113	-0.4085	10	0.72032	D	0.01	-21.8534	14.7442	0.69477	0.0:0.0:1.0:0.0	.	319;382;287;287	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	F	382;319;287;287	ENSP00000386125:V382F;ENSP00000443995:V319F;ENSP00000268314:V287F;ENSP00000399561:V287F	ENSP00000268314:V287F	V	+	1	0	ARMC5	31381228	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	5.948000	0.70249	2.060000	0.61445	0.450000	0.29827	GTC		PASS	0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		20	61	20	61	---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47494854	47494854	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:47494854G>A	ENST00000320640.6	-	1	331	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	PHKB_ENST00000299167.8_5'Flank|ITFG1_ENST00000544001.2_Intron|PHKB_ENST00000566044.1_5'Flank|PHKB_ENST00000455779.1_5'Flank|PHKB_ENST00000323584.5_5'Flank	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	35						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.H35Y(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GTGACGTTGTGCAGCGCCCGC	0.716																																						uc002eet.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(103-105)CAC>TAC		integrin alpha FG-GAP repeat containing 1							18.0	17.0	18.0					16																	47494854		2200	4299	6499	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47494854G>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.103C>T	16.37:g.47494854G>A	ENSP00000319918:p.His35Tyr					ITFG1_uc010vgh.1_Intron|PHKB_uc010vgi.1_5'Flank|PHKB_uc002eeu.3_5'Flank|PHKB_uc002eev.3_5'Flank|ITFG1_uc010cbf.1_5'Flank	p.H35Y	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			1	165	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	35					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.103C>T	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.524215	0.64747	.	.	ENSG00000129636	ENST00000320640	.	.	.	4.58	4.58	0.56647	.	0.142052	0.49305	D	0.000142	T	0.42539	0.1207	L	0.36672	1.1	0.80722	D	1	P	0.42296	0.775	B	0.34652	0.187	T	0.48647	-0.9017	9	0.46703	T	0.11	-2.7401	17.5503	0.87873	0.0:0.0:1.0:0.0	.	35	Q8TB96	TIP_HUMAN	Y	35	.	ENSP00000319918:H35Y	H	-	1	0	ITFG1	46052355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.965000	0.87945	2.359000	0.80004	0.591000	0.81541	CAC		PASS	0.716	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		6	25	6	25	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48158147	48158147	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:48158147G>C	ENST00000311303.3	-	10	1909	c.1564C>G	c.(1564-1566)Ctc>Gtc	p.L522V	ABCC12_ENST00000416054.1_Missense_Mutation_p.L522V|ABCC12_ENST00000448542.1_Missense_Mutation_p.L522V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	522	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L522V(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTGCAAGGAGGGAGCTCTTT	0.507																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1564-1566)CTC>GTC		ATP-binding cassette protein C12							255.0	235.0	242.0					16																	48158147		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48158147G>C	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1564C>G	16.37:g.48158147G>C	ENSP00000311030:p.Leu522Val					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.L522V	p.L522V	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			10	1910	-		all_cancers(37;0.0474)|all_lung(18;0.047)	522			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1564C>G	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083257	0.76642	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.96774	-4.12;-4.12;-4.12	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	M	0.78049	2.395	0.58432	D	0.999992	P;P	0.51537	0.855;0.946	P;P	0.56865	0.587;0.808	D	0.97152	0.9832	10	0.51188	T	0.08	.	14.5055	0.67750	0.0:0.1477:0.8523:0.0	.	522;522	Q96J65-2;Q96J65	.;MRP9_HUMAN	V	522;522;464;522	ENSP00000311030:L522V;ENSP00000401855:L522V;ENSP00000413046:L522V	ENSP00000311030:L522V	L	-	1	0	ABCC12	46715648	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.098000	0.50259	2.583000	0.87209	0.650000	0.86243	CTC		PASS	0.507	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		156	365	156	365	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50348274	50348274	+	Missense_Mutation	SNP	C	C	G	rs376861086		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:50348274C>G	ENST00000394697.2	+	24	3268	c.2928C>G	c.(2926-2928)gaC>gaG	p.D976E	ADCY7_ENST00000254235.3_Missense_Mutation_p.D976E			P51828	ADCY7_HUMAN	adenylate cyclase 7	976	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|cellular response to ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|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)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.D976E(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GTAAGCTGGACGGCATCAACA	0.637																																						uc002egd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2926-2928)GAC>GAG		adenylate cyclase 7	Bromocriptine(DB01200)						115.0	83.0	94.0					16																	50348274		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50348274C>G	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2928C>G	16.37:g.50348274C>G	ENSP00000378187:p.Asp976Glu						p.D976E	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	23	3196	+		all_cancers(37;0.0127)	976			Cytoplasmic (Potential).|Guanylate cyclase 2.		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.2928C>G	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550368	0.65311	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	T;T	0.80033	-1.33;-1.33	5.12	-5.18	0.02840	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.45867	U	0.000335	T	0.72827	0.3509	L	0.35723	1.085	0.80722	D	1	P	0.52061	0.95	P	0.48770	0.589	T	0.72827	-0.4175	10	0.21014	T	0.42	.	16.3786	0.83431	0.0:0.1284:0.0:0.8716	.	976	P51828	ADCY7_HUMAN	E	976	ENSP00000378187:D976E;ENSP00000254235:D976E	ENSP00000254235:D976E	D	+	3	2	ADCY7	48905775	0.000000	0.05858	0.937000	0.37676	0.998000	0.95712	-3.788000	0.00366	-0.854000	0.04131	0.655000	0.94253	GAC		PASS	0.637	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			7	61	7	61	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56917983	56917983	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:56917983C>T	ENST00000563236.1	+	14	1717	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	SLC12A3_ENST00000566786.1_Silent_p.Y563Y|SLC12A3_ENST00000262502.5_Silent_p.Y563Y|SLC12A3_ENST00000438926.2_Silent_p.Y564Y			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	564					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.Y564Y(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CATTCCAATACTACAACAAGT	0.612																																						uc010ccm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1690-1692)TAC>TAT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						161.0	126.0	138.0					16																	56917983		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56917983C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1692C>T	16.37:g.56917983C>T						SLC12A3_uc002ekd.3_Silent_p.Y564Y|SLC12A3_uc010ccn.2_Silent_p.Y563Y	p.Y564Y	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			14	1721	+			564			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.1692C>T	CCDS58464.1																																																																																				PASS	0.612	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			8	82	8	82	---	---	---	---
DDX28	55794	broad.mit.edu	37	16	68055731	68055731	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:68055731G>A	ENST00000332395.5	-	1	2039	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	459	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R459W(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TCCAGGCCCCGAGAGGCTATG	0.552																																						uc002evh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1375-1377)CGG>TGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							59.0	58.0	59.0					16																	68055731		2198	4300	6498	SO:0001583	missense	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68055731G>A	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1375C>T	16.37:g.68055731G>A	ENSP00000332340:p.Arg459Trp					DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	p.R459W	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	2229	-		Ovarian(137;0.0563)	459			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000332395.5	37	c.1375C>T	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963690	0.53507	.	.	ENSG00000182810	ENST00000332395	T	0.79352	-1.26	5.81	3.71	0.42584	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91788	0.7402	H	0.97240	3.965	0.48288	D	0.999621	D	0.89917	1.0	D	0.97110	1.0	D	0.94353	0.7581	10	0.87932	D	0	-19.9747	13.9681	0.64221	0.0:0.0:0.6238:0.3762	.	459	Q9NUL7	DDX28_HUMAN	W	459	ENSP00000332340:R459W	ENSP00000332340:R459W	R	-	1	2	DDX28	66613232	1.000000	0.71417	0.997000	0.53966	0.427000	0.31564	2.777000	0.47717	1.420000	0.47138	0.557000	0.71058	CGG		PASS	0.552	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		12	77	12	77	---	---	---	---
DDX28	55794	broad.mit.edu	37	16	68056949	68056949	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:68056949G>A	ENST00000332395.5	-	1	821	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'UTR	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	53						mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R53W(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		AGGTTCCGCCGCCTGCTCTGC	0.731																																						uc002evh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(157-159)CGG>TGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							9.0	10.0	10.0					16																	68056949		2168	4269	6437	SO:0001583	missense	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68056949G>A	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.157C>T	16.37:g.68056949G>A	ENSP00000332340:p.Arg53Trp					DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	p.R53W	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	1011	-		Ovarian(137;0.0563)	53						Missense_Mutation	SNP	ENST00000332395.5	37	c.157C>T	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584583	0.28268	.	.	ENSG00000182810	ENST00000332395	T	0.03580	3.88	5.32	0.979	0.19745	.	0.852991	0.10571	N	0.659178	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	D	0.56968	0.978	B	0.41299	0.353	T	0.50110	-0.8866	10	0.66056	D	0.02	-0.8713	7.1163	0.25418	0.0691:0.2264:0.5885:0.116	.	53	Q9NUL7	DDX28_HUMAN	W	53	ENSP00000332340:R53W	ENSP00000332340:R53W	R	-	1	2	DDX28	66614450	0.004000	0.15560	0.001000	0.08648	0.005000	0.04900	1.383000	0.34385	0.786000	0.33708	0.655000	0.94253	CGG		PASS	0.731	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		6	15	6	15	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71663316	71663316	+	Silent	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:71663316C>A	ENST00000268485.3	+	2	558	c.514C>A	c.(514-516)Cga>Aga	p.R172R	RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000567501.1_5'UTR|MARVELD3_ENST00000299952.4_Silent_p.R172R|MARVELD3_ENST00000565261.1_Missense_Mutation_p.D117E|MARVELD3_ENST00000567566.1_Silent_p.R172R	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	172					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.R172R(2)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CAGGCCTGGACGAGAGGAGGT	0.517																																						uc002fat.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(514-516)CGA>AGA		MARVEL domain containing 3 isoform 2							100.0	93.0	96.0					16																	71663316		2198	4300	6498	SO:0001819	synonymous_variant	91862					integral to membrane		g.chr16:71663316C>A	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	ENST00000268485.3:c.514C>A	16.37:g.71663316C>A						MARVELD3_uc002fas.1_Silent_p.R172R|MARVELD3_uc002fau.2_Silent_p.R172R|MARVELD3_uc010cge.2_Missense_Mutation_p.D117E	p.R172R	NM_052858	NP_443090	Q96A59	MALD3_HUMAN			2	577	+		Ovarian(137;0.125)	172			Cytoplasmic (Potential).		A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000268485.3	37	c.514C>A	CCDS10904.1																																																																																				PASS	0.517	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		16	104	16	104	---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88643785	88643785	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:88643785T>A	ENST00000301011.5	+	2	454	c.254T>A	c.(253-255)gTg>gAg	p.V85E	ZC3H18_ENST00000452588.2_Missense_Mutation_p.V85E	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	85						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V85E(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GACTCAGAGGTGAATGAGCTG	0.632																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(253-255)GTG>GAG		zinc finger CCCH-type containing 18							34.0	38.0	37.0					16																	88643785		2197	4300	6497	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643785T>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.254T>A	16.37:g.88643785T>A	ENSP00000301011:p.Val85Glu					ZC3H18_uc010voy.1_Splice_Site_p.E84_splice|ZC3H18_uc010voz.1_Missense_Mutation_p.V85E|ZC3H18_uc010vpa.1_Missense_Mutation_p.V85E	p.V85E	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	454	+			85					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.254T>A	CCDS10967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.080|0.080	-1.184902|-1.184902	0.01620|0.01620	.|.	.|.	ENSG00000158545|ENSG00000158545	ENST00000545404|ENST00000301011;ENST00000289509;ENST00000452588	.|T;T	.|0.31510	.|1.49;1.49	5.35|5.35	-4.47|-4.47	0.03525|0.03525	.|.	.|0.796314	.|0.11373	.|N	.|0.570685	.|T	.|0.08891	.|0.0220	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	.|T	.|0.34650	.|-0.9820	.|10	.|0.02654	.|T	.|1	.|-2.2299	2.8294|2.8294	0.05495|0.05495	0.149:0.4332:0.0857:0.3321|0.149:0.4332:0.0857:0.3321	.|.	.|85;85	.|E7ERS3;Q86VM9	.|.;ZCH18_HUMAN	.|E	-1|85	.|ENSP00000301011:V85E;ENSP00000416951:V85E	.|ENSP00000289509:V85E	.|V	+|+	.|2	.|0	ZC3H18|ZC3H18	87171286|87171286	0.012000|0.012000	0.17670|0.17670	0.006000|0.006000	0.13384|0.13384	0.003000|0.003000	0.03518|0.03518	0.201000|0.201000	0.17276|0.17276	-0.554000|-0.554000	0.06150|0.06150	-1.213000|-1.213000	0.01624|0.01624	.|GTG		PASS	0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		5	30	5	30	---	---	---	---
ZNF276	92822	broad.mit.edu	37	16	89799888	89799888	+	Splice_Site	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr16:89799888A>T	ENST00000443381.2	+	8	1377		c.e8-1		ZNF276_ENST00000446326.2_Splice_Site|ZNF276_ENST00000568064.1_Splice_Site|ZNF276_ENST00000289816.5_Splice_Site	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCTTCATTGCAGGGAGGAGCT	0.627																																						uc002fos.3																			2	Unknown(2)		lung(2)		0						c.e8-2		zinc finger protein 276 isoform a							109.0	104.0	105.0					16																	89799888		2198	4300	6498	SO:0001630	splice_region_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89799888A>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1281-1A>T	16.37:g.89799888A>T						ZNF276_uc010ciq.2_Splice_Site_p.R213_splice|ZNF276_uc002fop.2_Splice_Site_p.R335_splice|ZNF276_uc002foq.3_Splice_Site_p.R352_splice|ZNF276_uc010cir.2_Splice_Site|ZNF276_uc002for.3_Splice_Site_p.R213_splice|ZNF276_uc010cis.2_Splice_Site_p.R186_splice|ZNF276_uc002fot.3_Splice_Site|ZNF276_uc010vpm.1_Splice_Site_p.R265_splice|ZNF276_uc010cit.1_Splice_Site_p.R186_splice	p.R427_splice	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	8	1378	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)						Q0VGA1|Q2TBE8|Q3B7H7	Splice_Site	SNP	ENST00000443381.2	37	c.1281_splice	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761150	0.69763	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3004	0.73945	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF276	88327389	1.000000	0.71417	0.997000	0.53966	0.731000	0.41821	8.210000	0.89753	2.201000	0.70794	0.533000	0.62120	.		PASS	0.627	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287	Intron	15	130	15	130	---	---	---	---
SMG6	23293	broad.mit.edu	37	17	2202478	2202478	+	Silent	SNP	C	C	T	rs147802850		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:2202478C>T	ENST00000263073.6	-	2	1619	c.1569G>A	c.(1567-1569)acG>acA	p.T523T	SMG6_ENST00000544865.1_Silent_p.T492T	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	523					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.T523T(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTTATAGCCCGTATAGGGAT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		19104	0.0		0.0	False		,,,				2504	0.001				Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|lung(1)|kidney(1)	4						c.(1567-1569)ACG>ACA		Smg-6 homolog, nonsense mediated mRNA decay		C	,	1,4405	2.1+/-5.4	0,1,2202	130.0	139.0	136.0		1476,1569	0.7	1.0	17	dbSNP_134	136	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	SMG6	NM_001170957.1,NM_017575.4	,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,	492/1389,523/1420	2202478	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202478C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1569G>A	17.37:g.2202478C>T						SMG6_uc002fud.1_Silent_p.T492T	p.T523T	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			2	1624	-			523					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.1569G>A	CCDS11016.1																																																																																				PASS	0.537	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			6	399	6	399	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3919650	3919650	+	Silent	SNP	C	C	A	rs373957147		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:3919650C>A	ENST00000381638.2	-	49	8236	c.8112G>T	c.(8110-8112)tcG>tcT	p.S2704S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2704							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S2704S(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACGGGTGTTTCGACTCCCTCA	0.612																																						uc002fxe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(8110-8112)TCG>TCT		zinc finger, ZZ type with EF hand domain 1							189.0	140.0	156.0					17																	3919650		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3919650C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8112G>T	17.37:g.3919650C>A						ZZEF1_uc002fxg.1_Silent_p.S25S	p.S2704S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			49	8176	-			2704					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.8112G>T	CCDS11043.1																																																																																				PASS	0.612	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		46	148	46	148	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577156	7577156	+	Splice_Site	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:7577156C>A	ENST00000269305.4	-	8	972		c.e8-1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(25)|p.0?(8)|p.E258fs*71(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)	TAGATTACCACTACTCAGGAT	0.512		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		34	Unknown(25)|Whole gene deletion(8)|Deletion - Frameshift(1)	p.?(18)|p.0?(7)|p.E258fs*71(1)	lung(7)|upper_aerodigestive_tract(6)|urinary_tract(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|central_nervous_system(2)|oesophagus(2)|large_intestine(1)|breast(1)|ovary(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.e8-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							39.0	35.0	36.0					17																	7577156		2203	4299	6502	SO:0001630	splice_region_variant	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.chr17:7577156C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.783-1G>T	17.37:g.7577156C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice	p.S261_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	977	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.783_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889808	0.52014	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.446	0.75232	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517881	1.000000	0.71417	0.988000	0.46212	0.068000	0.16541	6.325000	0.72901	2.509000	0.84616	0.462000	0.41574	.		PASS	0.512	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	7	33	7	33	---	---	---	---
DHRS7C	201140	broad.mit.edu	37	17	9676195	9676195	+	Nonsense_Mutation	SNP	G	G	A	rs200331893		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:9676195G>A	ENST00000330255.5	-	5	631	c.619C>T	c.(619-621)Cga>Tga	p.R207*	DHRS7C_ENST00000571134.1_Nonsense_Mutation_p.R206*	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	207					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)	p.R207*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACTTCGGCTCGGAGGCAGTCA	0.602																																						uc010vvb.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(619-621)CGA>TGA		dehydrogenase/reductase (SDR family) member 7C							55.0	60.0	59.0					17																	9676195		2202	4300	6502	SO:0001587	stop_gained	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9676195G>A		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.619C>T	17.37:g.9676195G>A	ENSP00000327975:p.Arg207*					DHRS7C_uc010cof.2_Nonsense_Mutation_p.R206*	p.R207*	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN			5	619	-			207					B7ZW74|B9EJH3	Nonsense_Mutation	SNP	ENST00000330255.5	37	c.619C>T	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270330	0.95429	.	.	ENSG00000184544	ENST00000330255	.	.	.	4.99	2.87	0.33458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.783	0.57487	0.0:0.0:0.6066:0.3934	.	.	.	.	X	207	.	ENSP00000327975:R207X	R	-	1	2	DHRS7C	9616920	0.996000	0.38824	0.996000	0.52242	0.983000	0.72400	0.516000	0.22817	1.298000	0.44778	0.561000	0.74099	CGA		PASS	0.602	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		5	36	5	36	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18023488	18023488	+	Missense_Mutation	SNP	C	C	G	rs546359628		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:18023488C>G	ENST00000205890.5	+	2	1712	c.1374C>G	c.(1372-1374)ttC>ttG	p.F458L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	458					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.F458L(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)					CCGCCTTCTTCGAGCAGCAAG	0.642																																						uc010vxh.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(1372-1374)TTC>TTG		myosin XV							34.0	42.0	40.0					17																	18023488		2129	4221	6350	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023488C>G	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.1374C>G	17.37:g.18023488C>G	ENSP00000205890:p.Phe458Leu						p.F458L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	1712	+	all_neural(463;0.228)		458			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1374C>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914167	0.52546	.	.	ENSG00000091536	ENST00000205890	T	0.37915	1.17	5.4	-0.186	0.13272	.	.	.	.	.	T	0.22085	0.0532	L	0.29908	0.895	0.80722	D	1	B	0.25772	0.134	B	0.22880	0.042	T	0.03981	-1.0987	9	0.45353	T	0.12	.	6.2311	0.20736	0.0:0.3942:0.1269:0.4789	.	458	Q9UKN7	MYO15_HUMAN	L	458	ENSP00000205890:F458L	ENSP00000205890:F458L	F	+	3	2	MYO15A	17964213	0.033000	0.19621	0.991000	0.47740	0.956000	0.61745	-0.783000	0.04638	-0.220000	0.09988	-0.258000	0.10820	TTC		PASS	0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	51	4	51	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319268	21319268	+	Missense_Mutation	SNP	G	G	A	rs546877383		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:21319268G>A	ENST00000583088.1	+	3	1509	c.614G>A	c.(613-615)cGt>cAt	p.R205H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R205H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	205					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R205H(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GTGGCCCTGCGTGACGGCAAG	0.622										Prostate(3;0.18)			.|||	1	0.000199681	0.0008	0.0	5008	,	,		42399	0.0		0.0	False		,,,				2504	0.0					uc002gyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(613-615)CGT>CAT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)																																			SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319268G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.614G>A	17.37:g.21319268G>A	ENSP00000463778:p.Arg205His	Prostate(3;0.18)					p.R205H	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1319	+			205			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.614G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590552	0.66219	.	.	ENSG00000184185	ENST00000331718	D	0.95342	-3.68	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.93200	0.7834	M	0.71206	2.165	0.80722	D	1	P	0.48998	0.918	B	0.36608	0.229	D	0.94287	0.7525	10	0.72032	D	0.01	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	205	Q14500	IRK12_HUMAN	H	205	ENSP00000328150:R205H	ENSP00000328150:R205H	R	+	2	0	KCNJ12	21259861	1.000000	0.71417	0.956000	0.39512	0.820000	0.46376	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	CGT		PASS	0.622	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		11	48	11	48	---	---	---	---
GOSR1	9527	broad.mit.edu	37	17	28819754	28819754	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:28819754A>T	ENST00000225724.5	+	6	570	c.498A>T	c.(496-498)gaA>gaT	p.E166D	GOSR1_ENST00000581721.1_Missense_Mutation_p.E162D|GOSR1_ENST00000467337.2_Missense_Mutation_p.E101D|GOSR1_ENST00000451249.2_Missense_Mutation_p.E164D	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	166					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.E166D(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						TTTTGAAAGAACATGACCACC	0.318																																						uc002hfe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)GAA>GAT		golgi SNAP receptor complex member 1 isoform 1							134.0	135.0	134.0					17																	28819754		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28819754A>T	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.498A>T	17.37:g.28819754A>T	ENSP00000225724:p.Glu166Asp					GOSR1_uc002hfd.2_Missense_Mutation_p.E164D|GOSR1_uc002hff.2_Missense_Mutation_p.E101D	p.E166D	NM_004871	NP_004862	O95249	GOSR1_HUMAN			6	524	+			166			Cytoplasmic (Potential).		J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.498A>T	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835660	0.71373	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833;ENST00000427274	T;T	0.80304	-1.36;-1.36	4.93	3.81	0.43845	.	0.000000	0.85682	D	0.000000	D	0.88746	0.6520	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87997	0.2753	10	0.62326	D	0.03	-15.4647	9.7986	0.40751	0.9155:0.0:0.0845:0.0	.	166;164	O95249;E9PCW1	GOSR1_HUMAN;.	D	166;164;101;164	ENSP00000225724:E166D;ENSP00000414441:E164D	ENSP00000225724:E166D	E	+	3	2	GOSR1	25843880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.601000	0.36773	0.690000	0.31570	0.460000	0.39030	GAA		PASS	0.318	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			30	134	30	134	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35898443	35898443	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:35898443C>T	ENST00000339208.6	-	18	3640	c.3500G>A	c.(3499-3501)gGc>gAc	p.G1167D	SYNRG_ENST00000502449.2_Missense_Mutation_p.G1044D|SYNRG_ENST00000591288.1_Missense_Mutation_p.G961D|SYNRG_ENST00000346661.4_Missense_Mutation_p.G1167D|SYNRG_ENST00000345615.4_Missense_Mutation_p.G1089D|SYNRG_ENST00000585472.1_Missense_Mutation_p.G1088D|SYNRG_ENST00000394378.2_Missense_Mutation_p.G1089D	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1167					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.G1167D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATATTCCATGCCTTGAGCTGA	0.308																																						uc002hoa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3499-3501)GGC>GAC		synergin, gamma isoform 1							129.0	134.0	133.0					17																	35898443		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35898443C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3500G>A	17.37:g.35898443C>T	ENSP00000343610:p.Gly1167Asp					SYNRG_uc010wde.1_Missense_Mutation_p.G1089D|SYNRG_uc010wdf.1_Missense_Mutation_p.G1089D|SYNRG_uc002hoc.2_Missense_Mutation_p.G1088D|SYNRG_uc002hoe.2_Missense_Mutation_p.G1089D|SYNRG_uc002hod.2_Missense_Mutation_p.G1044D|SYNRG_uc010wdg.1_Missense_Mutation_p.G961D|SYNRG_uc002hob.2_Missense_Mutation_p.G1167D	p.G1167D	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			18	3583	-			1167					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.3500G>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826402	0.90955	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;D	0.84370	0.24;-1.84	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.91747	0.7390	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.91849	0.5490	10	0.72032	D	0.01	-13.849	19.7885	0.96447	0.0:1.0:0.0:0.0	.	961;1089;1089;1089;1167;1167	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	D	1167;961;1167;1089;1089	ENSP00000005279:G1167D;ENSP00000377903:G1089D	ENSP00000343610:G961D	G	-	2	0	SYNRG	32972556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.712000	0.84684	2.752000	0.94435	0.655000	0.94253	GGC		PASS	0.308	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		69	350	69	350	---	---	---	---
DNAJC7	7266	broad.mit.edu	37	17	40135656	40135656	+	Splice_Site	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:40135656T>C	ENST00000457167.4	-	10	1247		c.e10-2		DNAJC7_ENST00000316603.7_Splice_Site|DNAJC7_ENST00000426588.3_Splice_Site	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7						chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TCCATGTAACTGAGAAGGAAA	0.393																																					Colon(63;618 1117 8600 10857 19751)	uc002hyo.2																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e10-1		DnaJ (Hsp40) homolog, subfamily C, member 7							136.0	114.0	121.0					17																	40135656		1950	4146	6096	SO:0001630	splice_region_variant	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40135656T>C	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1011-2A>G	17.37:g.40135656T>C						DNAJC7_uc010cxu.2_Splice_Site_p.C281_splice|DNAJC7_uc010cxv.2_Intron|DNAJC7_uc010wgb.1_Splice_Site_p.C281_splice|DNAJC7_uc010wgc.1_Splice_Site_p.C195_splice|DNAJC7_uc002hyp.2_Splice_Site_p.C281_splice	p.C337_splice	NM_003315	NP_003306	Q99615	DNJC7_HUMAN			10	1248	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)						Q7Z784	Splice_Site	SNP	ENST00000457167.4	37	c.1011_splice	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.757056	0.89843	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6726	0.77289	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC7	37389182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.258000	0.51507	2.241000	0.73720	0.533000	0.62120	.		PASS	0.393	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2		Intron	6	15	6	15	---	---	---	---
RPRML	388394	broad.mit.edu	37	17	45056142	45056142	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:45056142G>A	ENST00000322329.3	-	1	472	c.232C>T	c.(232-234)Ctt>Ttt	p.L78F	GOSR2_ENST00000439730.2_Intron|LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.2_ENST00000571841.1_Intron	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	78						integral component of membrane (GO:0016021)		p.L78F(1)		lung(1)	1						ACCACGGTAAGCGACAGCACG	0.682																																						uc002ilb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CTT>TTT		reprimo-like							36.0	34.0	34.0					17																	45056142		2201	4300	6501	SO:0001583	missense	388394					integral to membrane		g.chr17:45056142G>A	BC033942	CCDS11508.1	17q21.32	2006-09-26				ENSG00000179673			32422	protein-coding gene	gene with protein product							Standard	NM_203400		Approved	MGC43894	uc002ilb.3	Q8N4K4		ENST00000322329.3:c.232C>T	17.37:g.45056142G>A	ENSP00000318032:p.Leu78Phe					GOSR2_uc010wkh.1_Intron	p.L78F	NM_203400	NP_981945	Q8N4K4	RPRML_HUMAN			1	473	-			78			Helical; (Potential).			Missense_Mutation	SNP	ENST00000322329.3	37	c.232C>T	CCDS11508.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881789	0.72294	.	.	ENSG00000179673	ENST00000322329	.	.	.	3.57	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.66297	2.02	0.58432	D	0.999998	D	0.71674	0.998	D	0.66979	0.948	T	0.71556	-0.4557	9	0.87932	D	0	-18.2546	8.7362	0.34530	0.115:0.0:0.885:0.0	.	78	Q8N4K4	RPRML_HUMAN	F	78	.	ENSP00000318032:L78F	L	-	1	0	RPRML	42411141	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.511000	0.45476	1.800000	0.52685	0.313000	0.20887	CTT		PASS	0.682	RPRML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440919.1	NM_203400		5	34	5	34	---	---	---	---
OSBPL7	114881	broad.mit.edu	37	17	45895919	45895919	+	Missense_Mutation	SNP	G	G	A	rs201097417		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:45895919G>A	ENST00000007414.3	-	6	624	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	OSBPL7_ENST00000392507.3_Missense_Mutation_p.R145C	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	145					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.R145C(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ATGTCCAGGCGGTGGGCTAGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		19686	0.001		0.0	False		,,,				2504	0.0					uc002ilx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)CGC>TGC		oxysterol-binding protein-like protein 7		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	35.0	38.0	37.0		433	4.9	1.0	17		37	0,8600		0,0,4300	yes	missense	OSBPL7	NM_145798.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	145/843	45895919	1,13005	2203	4300	6503	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45895919G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.433C>T	17.37:g.45895919G>A	ENSP00000007414:p.Arg145Cys					OSBPL7_uc002ilw.1_5'Flank	p.R145C	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN			6	636	-			145					D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.433C>T	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342661	0.24339	2.27E-4	0.0	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.18502	2.21;2.21	5.84	4.88	0.63580	.	0.000000	0.37809	N	0.001939	T	0.11965	0.0291	N	0.19112	0.55	0.43471	D	0.995688	B	0.02656	0.0	B	0.04013	0.001	T	0.05022	-1.0911	10	0.62326	D	0.03	-13.0041	10.8957	0.47021	0.0863:0.0:0.9137:0.0	.	145	Q9BZF2	OSBL7_HUMAN	C	145	ENSP00000007414:R145C;ENSP00000376295:R145C	ENSP00000007414:R145C	R	-	1	0	OSBPL7	43250918	1.000000	0.71417	0.997000	0.53966	0.446000	0.32137	4.094000	0.57721	1.484000	0.48361	0.563000	0.77884	CGC		PASS	0.627	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		8	69	8	69	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51902007	51902007	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:51902007A>T	ENST00000268919.4	+	1	1769	c.1613A>T	c.(1612-1614)aAc>aTc	p.N538I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	538	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N538I(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGATATGCAAACAGAGTAAAA	0.428																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(1612-1614)AAC>ATC		kinesin family member 2B							69.0	66.0	67.0					17																	51902007		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902007A>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1613A>T	17.37:g.51902007A>T	ENSP00000268919:p.Asn538Ile					uc010wna.1_RNA	p.N538I	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1769	+			538					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1613A>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036093	0.75617	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75477	-0.94	5.51	5.51	0.81932	Kinesin, motor domain (3);	0.000000	0.48767	D	0.000168	T	0.79476	0.4452	M	0.72576	2.205	0.45216	D	0.99822	P	0.47106	0.89	P	0.48873	0.593	T	0.82540	-0.0406	10	0.87932	D	0	.	14.744	0.69477	1.0:0.0:0.0:0.0	.	538	Q8N4N8	KIF2B_HUMAN	I	538;426	ENSP00000268919:N538I	ENSP00000268919:N538I	N	+	2	0	KIF2B	49257006	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	5.264000	0.65513	2.210000	0.71456	0.533000	0.62120	AAC		PASS	0.428	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		26	121	26	121	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56060750	56060750	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:56060750T>C	ENST00000581208.1	-	2	78	c.38A>G	c.(37-39)cAt>cGt	p.H13R	VEZF1_ENST00000584396.1_Missense_Mutation_p.H4R	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	13					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H13R(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGAAGCTTCATGGGCCTAAAA	0.493																																						uc002ivf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(37-39)CAT>CGT		zinc finger protein 161							54.0	60.0	58.0					17																	56060750		2198	4300	6498	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060750T>C	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.38A>G	17.37:g.56060750T>C	ENSP00000462337:p.His13Arg					VEZF1_uc010dcn.1_5'UTR	p.H13R	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			2	181	-			13						Missense_Mutation	SNP	ENST00000581208.1	37	c.38A>G	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.963221	0.34659	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.81	4.73	0.59995	.	0.091081	0.85682	D	0.000000	T	0.29389	0.0732	N	0.14661	0.345	0.52099	D	0.999941	P	0.34977	0.478	B	0.25987	0.065	T	0.07501	-1.0769	9	0.12430	T	0.62	-5.8591	11.9167	0.52769	0.0:0.0:0.1454:0.8546	.	13	Q14119	VEZF1_HUMAN	R	13	.	ENSP00000258963:H13R	H	-	2	0	VEZF1	53415749	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.375000	0.79646	1.015000	0.39444	0.448000	0.29417	CAT		PASS	0.493	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			46	148	46	148	---	---	---	---
OR4D1	26689	broad.mit.edu	37	17	56232691	56232691	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:56232691G>A	ENST00000268912.5	+	1	198	c.177G>A	c.(175-177)atG>atA	p.M59I		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	59					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.M59I(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						ACACACCCATGTATTTTCTGC	0.478																																						uc010wno.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)ATG>ATA		olfactory receptor, family 4, subfamily D,							173.0	170.0	171.0					17																	56232691		2115	4270	6385	SO:0001583	missense	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232691G>A	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.177G>A	17.37:g.56232691G>A	ENSP00000365451:p.Met59Ile					MSX2P1_uc002ivn.2_5'Flank	p.M59I	NM_012374	NP_036506	Q15615	OR4D1_HUMAN			1	177	+			59			Helical; Name=2; (Potential).		B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	c.177G>A	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	g	26.0	4.696985	0.88830	.	.	ENSG00000141194	ENST00000268912	T	0.09350	2.99	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.073992	0.64402	D	0.000020	T	0.48277	0.1491	H	0.96301	3.8	0.50813	D	0.999899	D	0.65815	0.995	D	0.77004	0.989	T	0.64179	-0.6468	10	0.87932	D	0	-33.2336	17.178	0.86846	0.0:0.0:1.0:0.0	.	59	Q15615	OR4D1_HUMAN	I	59	ENSP00000365451:M59I	ENSP00000365451:M59I	M	+	3	0	OR4D1	53587690	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.759000	0.85235	2.652000	0.90054	0.543000	0.68304	ATG		PASS	0.478	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			16	515	16	515	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67047206	67047206	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:67047206A>T	ENST00000340001.4	-	2	273	c.62T>A	c.(61-63)cTc>cAc	p.L21H	ABCA9_ENST00000453985.2_Missense_Mutation_p.L21H|ABCA9_ENST00000495634.1_Missense_Mutation_p.L21H|ABCA9_ENST00000370732.2_Missense_Mutation_p.L21H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	21					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L21H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCATTTTTTGAGACAGTTCTT	0.373																																						uc002jhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(61-63)CTC>CAC		ATP-binding cassette, sub-family A, member 9							132.0	122.0	126.0					17																	67047206		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67047206A>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.62T>A	17.37:g.67047206A>T	ENSP00000342216:p.Leu21His					ABCA9_uc010dez.2_Missense_Mutation_p.L21H|ABCA9_uc002jhv.2_Missense_Mutation_p.L21H	p.L21H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			2	205	-	Breast(10;1.47e-12)		21					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.62T>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384464	0.42308	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.91521	-2.69;-2.86	4.88	4.88	0.63580	.	0.275980	0.19491	N	0.112991	D	0.95313	0.8479	M	0.87547	2.89	0.35172	D	0.771639	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.97766	1.0223	10	0.87932	D	0	.	10.8009	0.46487	1.0:0.0:0.0:0.0	.	21;21	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	H	21;4;21;16	ENSP00000342216:L21H;ENSP00000359767:L21H	ENSP00000342216:L21H	L	-	2	0	ABCA9	64558801	0.992000	0.36948	0.997000	0.53966	0.079000	0.17450	4.598000	0.61069	2.047000	0.60756	0.533000	0.62120	CTC		PASS	0.373	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		12	110	12	110	---	---	---	---
C17orf70	80233	broad.mit.edu	37	17	79514179	79514179	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:79514179G>A	ENST00000327787.8	-	5	1975	c.1929C>T	c.(1927-1929)agC>agT	p.S643S	C17orf70_ENST00000425898.2_Silent_p.S292S|C17orf70_ENST00000537152.1_Silent_p.S492S			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	643					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S643S(1)|p.S492S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGTGTGCCTGCTCAGGGGCA	0.692																																						uc002kaq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1927-1929)AGC>AGT		Fanconi anemia core complex 100 kDa subunit							42.0	50.0	47.0					17																	79514179		2202	4299	6501	SO:0001819	synonymous_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514179G>A	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1929C>T	17.37:g.79514179G>A						C17orf70_uc002kao.1_Silent_p.S292S|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.S492S	p.S643S	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1984	-	all_neural(118;0.0878)|Melanoma(429;0.242)		643					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	37	c.1929C>T	CCDS32765.2																																																																																				PASS	0.692	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		27	109	27	109	---	---	---	---
HEXDC	284004	broad.mit.edu	37	17	80400154	80400154	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr17:80400154A>C	ENST00000327949.9	+	12	1366	c.1355A>C	c.(1354-1356)cAc>cCc	p.H452P	HEXDC_ENST00000337014.6_Missense_Mutation_p.T482P|HEXDC_ENST00000577944.1_Silent_p.A454A			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	452					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)	p.T482P(4)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAAAACGTGCACCCCAGCCTG	0.677																																						uc002kew.2																			4	Substitution - Missense(4)		lung(2)|kidney(2)	ovary(1)|skin(1)	2						c.(1354-1356)CAC>CCC		SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;							19.0	23.0	22.0					17																	80400154		2027	4180	6207	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80400154A>C	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1355A>C	17.37:g.80400154A>C	ENSP00000332634:p.His452Pro					HEXDC_uc002kev.3_Missense_Mutation_p.T482P|HEXDC_uc010diq.2_Silent_p.A454A|HEXDC_uc010wvm.1_RNA	p.H452P			Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		12	1406	+	Breast(20;0.00106)|all_neural(118;0.0804)		452					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.1355A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.539|9.539	1.112830|1.112830	0.20795|0.20795	.|.	.|.	ENSG00000169660|ENSG00000169660	ENST00000327949|ENST00000337014	T|T	0.30182|0.38077	1.54|1.16	5.25|5.25	-6.61|-6.61	0.01818|0.01818	.|.	.|36.350000	.|0.00166	.|N	.|0.000000	T|T	0.29355|0.29355	0.0731|0.0731	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|D	0.47604|0.53151	0.898|0.958	B|P	0.41271|0.47981	0.352|0.563	T|T	0.44862|0.44862	-0.9300|-0.9300	8|8	0.36615|.	T|.	0.2|.	-1.361|-1.361	1.0988|1.0988	0.01679|0.01679	0.252:0.1099:0.3008:0.3374|0.252:0.1099:0.3008:0.3374	.|.	452|482	Q8WVB3|Q8WVB3-2	HEXDC_HUMAN|.	P|P	452|482	ENSP00000332634:H452P|ENSP00000337854:T482P	ENSP00000332634:H452P|.	H|T	+|+	2|1	0|0	HEXDC|HEXDC	77993443|77993443	0.001000|0.001000	0.12720|0.12720	0.039000|0.039000	0.18376|0.18376	0.795000|0.795000	0.44927|0.44927	0.116000|0.116000	0.15561|0.15561	-1.797000|-1.797000	0.01252|0.01252	-0.496000|-0.496000	0.04628|0.04628	CAC|ACC		PASS	0.677	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		9	16	9	16	---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2960765	2960765	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr18:2960765G>T	ENST00000261596.4	-	2	312	c.74C>A	c.(73-75)gCc>gAc	p.A25D	RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	25	N-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.A25D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AGAGAGGGTGGCCTGGTTAAT	0.488																																						uc002klo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(73-75)GCC>GAC		lipin 2							124.0	105.0	112.0					18																	2960765		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2960765G>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.74C>A	18.37:g.2960765G>T	ENSP00000261596:p.Ala25Asp						p.A25D	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	2	313	-			25			N-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.74C>A	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	36	5.610227	0.96637	.	.	ENSG00000101577	ENST00000261596;ENST00000455369;ENST00000455221	T	0.79940	-1.32	5.74	5.74	0.90152	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93363	0.6728	10	0.62326	D	0.03	.	19.9351	0.97137	0.0:0.0:1.0:0.0	.	25	Q92539	LPIN2_HUMAN	D	25;25;62	ENSP00000261596:A25D	ENSP00000261596:A25D	A	-	2	0	LPIN2	2950765	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.358000	0.97109	2.703000	0.92315	0.655000	0.94253	GCC		PASS	0.488	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		29	81	29	81	---	---	---	---
APCDD1	147495	broad.mit.edu	37	18	10471799	10471799	+	Missense_Mutation	SNP	C	C	T	rs143954637		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr18:10471799C>T	ENST00000355285.5	+	3	869	c.515C>T	c.(514-516)cCg>cTg	p.P172L	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1									p.P172L(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CGCACATGCCCGGGCTTCCTC	0.657																																						uc002kom.3																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)CCG>CTG		adenomatosis polyposis coli down-regulated 1		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	64.0	70.0	68.0		515	5.3	0.9	18	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	APCDD1	NM_153000.4	98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	172/515	10471799	2,13004	2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471799C>T	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.515C>T	18.37:g.10471799C>T	ENSP00000347433:p.Pro172Leu						p.P172L	NM_153000	NP_694545	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	869	+			172			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000355285.5	37	c.515C>T	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379467	0.42207	2.27E-4	1.16E-4	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.17370	2.28	5.3	5.3	0.74995	.	0.103094	0.64402	D	0.000004	T	0.20700	0.0498	L	0.54323	1.7	0.80722	D	1	B	0.17465	0.022	B	0.09377	0.004	T	0.02491	-1.1151	10	0.30854	T	0.27	-32.2852	18.945	0.92618	0.0:1.0:0.0:0.0	.	172	Q8J025	APCD1_HUMAN	L	172;223	ENSP00000347433:P172L	ENSP00000347433:P172L	P	+	2	0	APCDD1	10461799	1.000000	0.71417	0.942000	0.38095	0.322000	0.28314	4.048000	0.57390	2.477000	0.83638	0.655000	0.94253	CCG		PASS	0.657	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		17	189	17	189	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65181205	65181205	+	Missense_Mutation	SNP	C	C	G	rs368246469		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr18:65181205C>G	ENST00000310045.7	-	2	2144	c.671G>C	c.(670-672)cGc>cCc	p.R224P	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	214					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.R224P(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCCCCATGAGCGGACCTTGGA	0.383																																						uc002lke.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(670-672)CGC>CCC		dermatan sulfate epimerase-like							94.0	91.0	92.0					18																	65181205		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181205C>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.671G>C	18.37:g.65181205C>G	ENSP00000310565:p.Arg224Pro						p.R224P	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	1895	-		Esophageal squamous(42;0.129)	214					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.671G>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588444	0.66105	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.30981	1.51	4.75	4.75	0.60458	.	0.000000	0.64402	U	0.000001	T	0.57710	0.2072	M	0.74881	2.28	0.58432	D	0.999996	D	0.76494	0.999	D	0.85130	0.997	T	0.63251	-0.6679	10	0.72032	D	0.01	.	18.1297	0.89597	0.0:1.0:0.0:0.0	.	214	Q8IZU8	DSEL_HUMAN	P	224;214	ENSP00000310565:R224P	ENSP00000310565:R224P	R	-	2	0	DSEL	63332185	1.000000	0.71417	0.986000	0.45419	0.724000	0.41520	5.909000	0.69923	2.372000	0.80975	0.555000	0.69702	CGC		PASS	0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		17	187	17	187	---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	76936834	76936834	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr18:76936834A>T	ENST00000426216.2	+	8	817	c.800A>T	c.(799-801)gAt>gTt	p.D267V	ATP9B_ENST00000307671.7_Missense_Mutation_p.D267V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	267					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D267V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		ATTCGAACTGATCAACTAGAT	0.468																																						uc002lmx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(799-801)GAT>GTT		ATPase, class II, type 9B							105.0	102.0	103.0					18																	76936834		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76936834A>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.800A>T	18.37:g.76936834A>T	ENSP00000398076:p.Asp267Val					ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Missense_Mutation_p.D267V|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_5'UTR	p.D267V	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	8	814	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	267			Cytoplasmic (Potential).		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.800A>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572386	0.86542	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.90563	-2.69;-2.69	5.56	5.56	0.83823	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95667	0.8591	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96308	0.9226	10	0.87932	D	0	.	15.7105	0.77623	1.0:0.0:0.0:0.0	.	267;267	O43861;O43861-2	ATP9B_HUMAN;.	V	267	ENSP00000398076:D267V;ENSP00000304500:D267V	ENSP00000304500:D267V	D	+	2	0	ATP9B	75037822	1.000000	0.71417	0.767000	0.31495	0.992000	0.81027	8.380000	0.90149	2.105000	0.64084	0.533000	0.62120	GAT		PASS	0.468	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		29	136	29	136	---	---	---	---
PQLC1	80148	broad.mit.edu	37	18	77710832	77710832	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr18:77710832G>A	ENST00000397778.2	-	2	277	c.95C>T	c.(94-96)cCc>cTc	p.P32L	PQLC1_ENST00000409073.1_5'Flank|PQLC1_ENST00000357575.4_Missense_Mutation_p.P32L|PQLC1_ENST00000590381.1_Missense_Mutation_p.P32L	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	32	PQ-loop 1.					integral component of membrane (GO:0016021)		p.P32L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CGGGACGTAGGGCACCACCCC	0.667																																						uc002lnl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(94-96)CCC>CTC		PQ loop repeat containing 1 isoform 1							49.0	43.0	45.0					18																	77710832		2201	4299	6500	SO:0001583	missense	80148					integral to membrane		g.chr18:77710832G>A	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.95C>T	18.37:g.77710832G>A	ENSP00000380880:p.Pro32Leu					PQLC1_uc010dre.2_5'UTR|PQLC1_uc002lnk.2_Missense_Mutation_p.P32L|PQLC1_uc010xfm.1_Missense_Mutation_p.P32L	p.P32L	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	2	267	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	32			PQ-loop 1.		B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	37	c.95C>T	CCDS12020.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680847	0.96774	.	.	ENSG00000122490	ENST00000397778;ENST00000357575;ENST00000351365	D;D	0.97888	-4.59;-4.59	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99808	1.1039	10	0.72032	D	0.01	-41.4196	17.8253	0.88664	0.0:0.0:1.0:0.0	.	32;32;32	B7Z7D9;Q8N2U9;G5E989	.;PQLC1_HUMAN;.	L	32	ENSP00000380880:P32L;ENSP00000350188:P32L	ENSP00000315627:P32L	P	-	2	0	PQLC1	75811820	1.000000	0.71417	0.951000	0.38953	0.980000	0.70556	8.820000	0.92003	2.184000	0.69523	0.491000	0.48974	CCC		PASS	0.667	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		5	23	5	23	---	---	---	---
P2RY11	5032	broad.mit.edu	37	19	10226670	10226670	+	IGR	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:10226670C>T	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Missense_Mutation_p.G226R|EIF3G_ENST00000587168.1_5'Flank	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)	p.G226R(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			ATGGACTCCCCGCGGCGGCTG	0.677																																						uc002mnd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)GGG>AGG		eukaryotic translation initiation factor 3,							26.0	28.0	27.0					19																	10226670		2198	4298	6496	SO:0001628	intergenic_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10226670C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10226670C>T							p.G226R	NM_003755	NP_003746	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		8	740	-			226					B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.676G>A	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479810	0.84747	.	.	ENSG00000130811	ENST00000253108	T	0.35421	1.31	4.22	4.22	0.49857	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62863	-0.6764	10	0.29301	T	0.29	-32.1099	15.5064	0.75745	0.0:1.0:0.0:0.0	.	226	O75821	EIF3G_HUMAN	R	226	ENSP00000253108:G226R	ENSP00000253108:G226R	G	-	1	0	EIF3G	10087670	1.000000	0.71417	0.794000	0.32065	0.723000	0.41478	5.373000	0.66162	2.175000	0.68902	0.561000	0.74099	GGG		PASS	0.677	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		12	10	12	10	---	---	---	---
RAVER1	125950	broad.mit.edu	37	19	10439520	10439520	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:10439520G>A	ENST00000293677.6	-	3	686	c.605C>T	c.(604-606)tCg>tTg	p.S202L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	185	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S202L(1)|p.S185L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			ACGGGCAGCCGAGTCCTTCTT	0.642																																						uc002moa.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(604-606)TCG>TTG		RAVER1							30.0	36.0	34.0					19																	10439520		2127	4237	6364	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10439520G>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.605C>T	19.37:g.10439520G>A	ENSP00000293677:p.Ser202Leu						p.S202L	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	685	-			185			RRM 2.		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.605C>T	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702519	0.88924	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.18502	2.21	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.80982	2.52	0.54753	D	0.999989	D	0.63880	0.993	P	0.58928	0.848	T	0.39272	-0.9622	10	0.62326	D	0.03	-14.2763	15.9636	0.79950	0.0:0.0:1.0:0.0	.	202	E9PAU2	.	L	202;185	ENSP00000293677:S202L	ENSP00000293677:S202L	S	-	2	0	RAVER1	10300520	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.349000	0.97066	2.357000	0.79964	0.650000	0.86243	TCG		PASS	0.642	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		13	19	13	19	---	---	---	---
ATG4D	84971	broad.mit.edu	37	19	10657905	10657905	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:10657905G>C	ENST00000309469.4	+	5	984	c.811G>C	c.(811-813)Gtg>Ctg	p.V271L	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	271					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.V271L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCGCCTGGTGGTGTACGTTTC	0.627																																						uc002mov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(811-813)GTG>CTG		APG4 autophagy 4 homolog D							50.0	44.0	46.0					19																	10657905		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10657905G>C	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.811G>C	19.37:g.10657905G>C	ENSP00000311318:p.Val271Leu					ATG4D_uc010xlh.1_Missense_Mutation_p.V208L|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Intron	p.V271L	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		5	931	+			271					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.811G>C	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611688	0.87258	.	.	ENSG00000130734	ENST00000309469	T	0.50001	0.76	5.08	4.05	0.47172	.	0.062092	0.64402	D	0.000006	T	0.65059	0.2655	M	0.78456	2.415	0.80722	D	1	D;D	0.59767	0.975;0.986	P;P	0.62014	0.854;0.897	T	0.68708	-0.5337	10	0.59425	D	0.04	-32.9313	12.453	0.55686	0.0837:0.0:0.9163:0.0	.	208;271	B4DGM8;Q86TL0	.;ATG4D_HUMAN	L	271	ENSP00000311318:V271L	ENSP00000311318:V271L	V	+	1	0	ATG4D	10518905	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	6.089000	0.71384	1.124000	0.41980	0.561000	0.74099	GTG		PASS	0.627	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		9	24	9	24	---	---	---	---
ZNF791	163049	broad.mit.edu	37	19	12738992	12738992	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:12738992G>A	ENST00000343325.4	+	4	811	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	ZNF791_ENST00000540038.1_Missense_Mutation_p.E108K|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.E185K|AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	217					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.E217K(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAAGCCCTATGAATGTAAACA	0.418																																						uc002mua.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(649-651)GAA>AAA		zinc finger protein 791							60.0	60.0	60.0					19																	12738992		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738992G>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.649G>A	19.37:g.12738992G>A	ENSP00000342974:p.Glu217Lys					ZNF791_uc010xml.1_Missense_Mutation_p.E185K|ZNF791_uc010dyu.1_Missense_Mutation_p.E108K|ZNF791_uc010xmm.1_Missense_Mutation_p.E108K	p.E217K	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			4	811	+			217			C2H2-type 5.		B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.649G>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	G	8.173	0.792043	0.16258	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.06608	3.28;3.28;3.28	1.83	0.715	0.18186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01870	0.0059	N	0.01522	-0.82	0.09310	N	1	B	0.13594	0.008	B	0.17433	0.018	T	0.48068	-0.9067	9	0.13853	T	0.58	.	2.4601	0.04539	0.1889:0.0:0.5242:0.2869	.	217	Q3KP31	ZN791_HUMAN	K	217;199;185;108	ENSP00000342974:E217K;ENSP00000441761:E185K;ENSP00000441038:E108K	ENSP00000342974:E217K	E	+	1	0	ZNF791	12599992	0.000000	0.05858	0.994000	0.49952	0.942000	0.58702	-1.568000	0.02144	0.103000	0.17682	-0.339000	0.08088	GAA		PASS	0.418	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		17	94	17	94	---	---	---	---
CYP4F12	66002	broad.mit.edu	37	19	15807890	15807890	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:15807890C>A	ENST00000550308.1	+	13	1950	c.1570C>A	c.(1570-1572)Cag>Aag	p.Q524K	CYP4F12_ENST00000324632.10_Missense_Mutation_p.Q524K	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	524					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.Q524K(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGTAAGCTTGCAGTGACTTTC	0.577																																						uc002nbl.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1570-1572)CAG>AAG		cytochrome P450, family 4, subfamily F,							56.0	60.0	59.0					19																	15807890		2176	4292	6468	SO:0001583	missense	66002							g.chr19:15807890C>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1570C>A	19.37:g.15807890C>A	ENSP00000448998:p.Gln524Lys						p.Q524K	NM_023944	NP_076433					13	1631	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.1570C>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	7.754	0.704053	0.15172	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.66815	-0.23;-0.23	2.31	-1.47	0.08772	.	0.401967	0.12162	U	0.493860	T	0.37785	0.1016	N	0.08118	0	0.09310	N	1	B	0.23591	0.088	B	0.18561	0.022	T	0.19647	-1.0299	10	0.59425	D	0.04	.	2.5127	0.04660	0.2335:0.4807:0.0:0.2858	.	524	Q9HCS2	CP4FC_HUMAN	K	524	ENSP00000448998:Q524K;ENSP00000321821:Q524K	ENSP00000321821:Q524K	Q	+	1	0	CYP4F12	15668890	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	1.204000	0.32296	-0.237000	0.09739	0.313000	0.20887	CAG		PASS	0.577	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			26	68	26	68	---	---	---	---
CYP4F11	57834	broad.mit.edu	37	19	16032946	16032946	+	Nonsense_Mutation	SNP	C	C	T	rs375971202		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:16032946C>T	ENST00000402119.4	-	8	1442	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	CYP4F11_ENST00000326742.8_Nonsense_Mutation_p.W339*|CYP4F11_ENST00000591841.1_Nonsense_Mutation_p.W14*|CYP4F11_ENST00000248041.8_Nonsense_Mutation_p.W339*	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.W339*(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTATAGGACCCAGGAGAGACC	0.542																																						uc002nbu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1015-1017)TGG>TAG		cytochrome P450 family 4 subfamily F polypeptide							105.0	92.0	96.0					19																	16032946		2203	4300	6503	SO:0001587	stop_gained	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16032946C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1016G>A	19.37:g.16032946C>T	ENSP00000384588:p.Trp339*					CYP4F11_uc010eab.1_Nonsense_Mutation_p.W339*|CYP4F11_uc002nbt.2_Nonsense_Mutation_p.W339*	p.W339*	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			9	1052	-			339						Nonsense_Mutation	SNP	ENST00000402119.4	37	c.1016G>A	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.645425	0.87859	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	.	.	.	2.77	2.77	0.32553	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2762	0.49168	0.0:1.0:0.0:0.0	.	.	.	.	X	339	.	ENSP00000248041:W339X	W	-	2	0	CYP4F11	15893946	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.770000	0.74990	1.531000	0.49152	0.484000	0.47621	TGG		PASS	0.542	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		9	141	9	141	---	---	---	---
MAP1S	55201	broad.mit.edu	37	19	17835951	17835951	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:17835951G>T	ENST00000324096.4	+	4	548	c.397G>T	c.(397-399)Ggg>Tgg	p.G133W	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.G107W|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	133	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.G133W(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						GCTACAGACAGGGGGCTTCTC	0.622																																						uc002nhe.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(397-399)GGG>TGG		BPY2 interacting protein 1							88.0	82.0	84.0					19																	17835951		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.chr19:17835951G>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.397G>T	19.37:g.17835951G>T	ENSP00000325313:p.Gly133Trp					MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.G133W|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.G107W	p.G133W	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			4	406	+			133			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.397G>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858856	0.71834	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20332	2.08;2.08	4.29	4.29	0.51040	.	0.000000	0.52532	D	0.000077	T	0.48277	0.1491	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.55798	-0.8084	10	0.87932	D	0	-40.6708	14.2264	0.65863	0.0:0.0:1.0:0.0	.	107;133;133	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	W	133;107	ENSP00000325313:G133W;ENSP00000439243:G107W	ENSP00000325313:G133W	G	+	1	0	MAP1S	17696951	1.000000	0.71417	0.973000	0.42090	0.797000	0.45037	9.173000	0.94815	1.931000	0.55961	0.491000	0.48974	GGG		PASS	0.622	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		55	110	55	110	---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21477059	21477059	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:21477059A>T	ENST00000356929.3	-	4	906	c.709T>A	c.(709-711)Tca>Aca	p.S237T		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	173					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.S237T(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GTAAGAGTTGAGGACTGGTTA	0.353																																						uc002npq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(2)	6						c.(709-711)TCA>ACA		zinc finger protein 708							39.0	41.0	41.0					19																	21477059		2167	4282	6449	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21477059A>T	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.709T>A	19.37:g.21477059A>T	ENSP00000349401:p.Ser237Thr					ZNF708_uc002npr.1_Missense_Mutation_p.S173T|ZNF708_uc010ecs.1_Missense_Mutation_p.S173T	p.S237T	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	907	-			237			C2H2-type 4.		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.709T>A	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	4.351	0.064590	0.08388	.	.	ENSG00000182141	ENST00000356929	T	0.36157	1.27	1.05	-0.848	0.10727	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37293	0.0998	M	0.73319	2.225	0.09310	N	1	P	0.45474	0.859	P	0.45610	0.487	T	0.27571	-1.0070	9	0.40728	T	0.16	.	5.7911	0.18361	0.7358:0.2642:0.0:0.0	.	237	P17019	ZN708_HUMAN	T	237	ENSP00000349401:S237T	ENSP00000349401:S237T	S	-	1	0	ZNF708	21268899	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-1.268000	0.02836	0.408000	0.25621	0.397000	0.26171	TCA		PASS	0.353	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		28	71	28	71	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22375845	22375845	+	Silent	SNP	T	T	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:22375845T>G	ENST00000397121.2	-	2	420	c.103A>C	c.(103-105)Aga>Cga	p.R35R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R35R(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCTCATGTCTCTTCATATTC	0.413																																						uc002nqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(103-105)AGA>CGA		zinc finger protein 676							100.0	119.0	112.0					19																	22375845		1510	2709	4219	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22375845T>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.103A>C	19.37:g.22375845T>G							p.R35R	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			2	421	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	35			KRAB.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.103A>C	CCDS42539.1																																																																																				PASS	0.413	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		45	102	45	102	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934746	30934746	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:30934746G>C	ENST00000355537.3	+	2	424	c.277G>C	c.(277-279)Gac>Cac	p.D93H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	93					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.D93H(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGGGAGGTGGACACCAGCCT	0.667																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(277-279)GAC>CAC		zinc finger protein 536							31.0	29.0	30.0					19																	30934746		2202	4298	6500	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934746G>C		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.277G>C	19.37:g.30934746G>C	ENSP00000347730:p.Asp93His					ZNF536_uc010edd.1_Missense_Mutation_p.D93H	p.D93H	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	415	+	Esophageal squamous(110;0.0834)		93					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.277G>C	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218666	0.39201	.	.	ENSG00000198597	ENST00000355537	T	0.10099	2.91	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00581	-1.1660	10	0.59425	D	0.04	-38.7092	19.7691	0.96356	0.0:0.0:1.0:0.0	.	93;93	A7E228;O15090	.;ZN536_HUMAN	H	93	ENSP00000347730:D93H	ENSP00000347730:D93H	D	+	1	0	ZNF536	35626586	1.000000	0.71417	0.980000	0.43619	0.968000	0.65278	9.467000	0.97671	2.689000	0.91719	0.462000	0.41574	GAC		PASS	0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	25	7	25	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34887209	34887209	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:34887209G>A	ENST00000356487.5	+	13	1307	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	GPI_ENST00000586425.1_Missense_Mutation_p.D356N|GPI_ENST00000415930.3_Missense_Mutation_p.D367N	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	356					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.D356N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTTCCAGGGCGACATGGAGTC	0.507																																						uc002nvg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1066-1068)GAC>AAC		glucose phosphate isomerase							55.0	59.0	58.0					19																	34887209		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34887209G>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1066G>A	19.37:g.34887209G>A	ENSP00000348877:p.Asp356Asn					GPI_uc002nvf.2_Missense_Mutation_p.D395N|GPI_uc010xrv.1_Missense_Mutation_p.D367N|GPI_uc010xrw.1_Missense_Mutation_p.D328N|GPI_uc010edl.1_Missense_Mutation_p.D356N|GPI_uc002nvi.1_Missense_Mutation_p.D19N	p.D356N	NM_000175	NP_000166	P06744	G6PI_HUMAN			13	1169	+	Esophageal squamous(110;0.162)		356					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.1066G>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780719	0.90195	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.93906	-3.31;-3.31	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.95472	0.8529	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.81914	0.99;0.97;0.99;0.995	D	0.92846	0.6293	10	0.12103	T	0.63	-5.6164	19.2994	0.94138	0.0:0.0:1.0:0.0	.	328;367;329;356	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	N	367;356	ENSP00000405573:D367N;ENSP00000348877:D356N	ENSP00000348877:D356N	D	+	1	0	GPI	39579049	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.854000	0.99522	2.566000	0.86566	0.555000	0.69702	GAC		PASS	0.507	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			52	239	52	239	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36219920	36219920	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:36219920C>A	ENST00000222270.7	+	21	4722	c.4722C>A	c.(4720-4722)caC>caA	p.H1574Q	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.H1574Q	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1574					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.H1576Q(1)									CCTTCTCACACCTGGAGGACC	0.602																																						uc010eei.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(4720-4722)CAC>CAA		myeloid/lymphoid or mixed-lineage leukemia 4							81.0	84.0	83.0					19																	36219920		2027	4183	6210	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36219920C>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4722C>A	19.37:g.36219920C>A	ENSP00000222270:p.His1574Gln						p.H1574Q	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		22	4722	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1574					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.4722C>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791713	0.31685	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82711	-1.64;-1.64	5.13	4.05	0.47172	.	0.000000	0.47093	D	0.000251	T	0.63426	0.2510	N	0.22421	0.69	0.40933	D	0.984409	P	0.44195	0.828	B	0.36289	0.221	T	0.61446	-0.7061	10	0.12766	T	0.61	.	5.7539	0.18162	0.0:0.6932:0.2004:0.1064	.	1574	Q9UMN6	MLL4_HUMAN	Q	1574	ENSP00000222270:H1574Q;ENSP00000398837:H1574Q	ENSP00000222270:H1574Q	H	+	3	2	AD000671.1	40911760	0.049000	0.20398	1.000000	0.80357	0.963000	0.63663	0.575000	0.23729	2.669000	0.90835	0.655000	0.94253	CAC		PASS	0.602	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		13	239	13	239	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36594257	36594257	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:36594257C>T	ENST00000270301.7	+	30	3512	c.3512C>T	c.(3511-3513)aCg>aTg	p.T1171M	WDR62_ENST00000401500.2_Missense_Mutation_p.T1176M			O43379	WDR62_HUMAN	WD repeat domain 62	1171					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.T1171M(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCTGCCTTACGAGCCTGGCG	0.642																																						uc002odc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3511-3513)ACG>ATG		WD repeat domain 62 isoform 2							156.0	120.0	132.0					19																	36594257		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36594257C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3512C>T	19.37:g.36594257C>T	ENSP00000270301:p.Thr1171Met					WDR62_uc002odd.2_Missense_Mutation_p.T1176M	p.T1171M	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		30	3603	+	Esophageal squamous(110;0.162)		1171			WD 14.		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.3512C>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326531	0.24080	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.51574	0.78;0.7	4.63	3.59	0.41128	.	0.930650	0.08742	U	0.900463	T	0.49745	0.1575	L	0.27053	0.805	0.21105	N	0.999789	D;D	0.76494	0.999;0.998	P;P	0.59288	0.855;0.72	T	0.34129	-0.9841	10	0.44086	T	0.13	0.1086	8.5554	0.33478	0.0:0.8947:0.0:0.1053	.	1176;1171	O43379-4;O43379	.;WDR62_HUMAN	M	1176;1171	ENSP00000384792:T1176M;ENSP00000270301:T1171M	ENSP00000270301:T1171M	T	+	2	0	WDR62	41286097	0.010000	0.17322	0.007000	0.13788	0.006000	0.05464	0.824000	0.27379	1.311000	0.45024	0.455000	0.32223	ACG		PASS	0.642	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		51	143	51	143	---	---	---	---
ZNF565	147929	broad.mit.edu	37	19	36673707	36673707	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:36673707G>A	ENST00000355114.5	-	5	2007	c.1281C>T	c.(1279-1281)ggC>ggT	p.G427G	ZNF565_ENST00000304116.5_Silent_p.G387G|ZNF565_ENST00000392173.2_Silent_p.G387G			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	427					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.G387G(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AGGGTCTGTCGCCAGTATGGA	0.463																																						uc002odn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1159-1161)GGC>GGT		zinc finger protein 565							132.0	110.0	117.0					19																	36673707		2203	4300	6503	SO:0001819	synonymous_variant	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673707G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1281C>T	19.37:g.36673707G>A						ZNF565_uc010ees.2_Silent_p.G322G|ZNF565_uc002odo.2_Silent_p.G387G	p.G387G	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1269	-	Esophageal squamous(110;0.162)		387					B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37	c.1161C>T																																																																																					PASS	0.463	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		27	307	27	307	---	---	---	---
GGN	199720	broad.mit.edu	37	19	38877212	38877212	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:38877212G>A	ENST00000334928.6	-	3	822	c.690C>T	c.(688-690)gcC>gcT	p.A230A	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	230	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)		p.A230A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCAGGCTGGGCCATTTCGC	0.677																																						uc002oij.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(688-690)GCC>GCT		gametogenetin							13.0	15.0	14.0					19																	38877212		2106	4160	6266	SO:0001819	synonymous_variant	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38877212G>A	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.690C>T	19.37:g.38877212G>A						GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.A147A	p.A230A	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	825	-	all_cancers(60;3.4e-06)		230			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	c.690C>T	CCDS12516.1																																																																																				PASS	0.677	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		5	86	5	86	---	---	---	---
CYP2A6	1548	broad.mit.edu	37	19	41356272	41356272	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:41356272C>G	ENST00000301141.5	-	1	80	c.60G>C	c.(58-60)ttG>ttC	p.L20F	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	20					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.L20F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AAACAGACATCAAGACCATTA	0.562																																						uc002opl.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(58-60)TTG>TTC		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						103.0	87.0	93.0					19																	41356272		2203	4298	6501	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41356272C>G	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.60G>C	19.37:g.41356272C>G	ENSP00000301141:p.Leu20Phe					CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	p.L20F	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	81	-			20					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.60G>C	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	5.664	0.307074	0.10733	.	.	ENSG00000255974	ENST00000301141	T	0.72167	-0.63	2.86	1.8	0.24995	.	0.704963	0.12346	U	0.477014	T	0.60143	0.2246	L	0.51422	1.61	0.09310	N	1	B	0.25609	0.13	B	0.30782	0.12	T	0.48115	-0.9063	10	0.25106	T	0.35	.	3.9855	0.09514	0.0:0.6039:0.2487:0.1474	.	20	P11509	CP2A6_HUMAN	F	20	ENSP00000301141:L20F	ENSP00000301141:L20F	L	-	3	2	CYP2A6	46048112	0.186000	0.23225	0.848000	0.33437	0.036000	0.12997	0.268000	0.18571	0.413000	0.25759	0.173000	0.16961	TTG		PASS	0.562	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		10	869	10	869	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43579569	43579569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:43579569C>A	ENST00000406487.1	-	3	744	c.646G>T	c.(646-648)Gaa>Taa	p.E216*		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	216	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E216*(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ATTTCACATTCATAGGGTCCT	0.512																																						uc002ovr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(646-648)GAA>TAA		pregnancy specific beta-1-glycoprotein 2							233.0	245.0	241.0					19																	43579569		2202	4298	6500	SO:0001587	stop_gained	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579569C>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.646G>T	19.37:g.43579569C>A	ENSP00000385706:p.Glu216*					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Nonsense_Mutation_p.E216*|PSG2_uc010eiq.1_Nonsense_Mutation_p.E216*|PSG2_uc002ovs.3_Nonsense_Mutation_p.E216*|PSG2_uc002ovt.3_Nonsense_Mutation_p.E216*	p.E216*	NM_031246	NP_112536	P11465	PSG2_HUMAN			3	739	-		Prostate(69;0.00682)	216			Ig-like C2-type 1.		Q8TCD9|Q9UEA4|Q9UQ78	Nonsense_Mutation	SNP	ENST00000406487.1	37	c.646G>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	15.35	2.807560	0.50421	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	.	.	.	1.33	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.0088	0.19562	0.0:1.0:0.0:0.0	.	.	.	.	X	216	.	ENSP00000332984:E216X	E	-	1	0	PSG2	48271409	0.073000	0.21202	0.077000	0.20336	0.022000	0.10575	-0.196000	0.09532	0.703000	0.31848	0.454000	0.30748	GAA		PASS	0.512	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		191	458	191	458	---	---	---	---
GPR4	2828	broad.mit.edu	37	19	46094366	46094366	+	Silent	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:46094366G>T	ENST00000323040.4	-	2	1703	c.759C>A	c.(757-759)ggC>ggA	p.G253G	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	253					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G253G(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCCAGGGGCGGCCCAGGTAGA	0.622																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(757-759)GGC>GGA		G protein-coupled receptor 4							37.0	42.0	40.0					19																	46094366		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094366G>T	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.759C>A	19.37:g.46094366G>T						OPA3_uc010xxk.1_Intron	p.G253G	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1704	-			253			Extracellular (Potential).		A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.759C>A	CCDS12669.1																																																																																				PASS	0.622	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		38	58	38	58	---	---	---	---
FUT2	2524	broad.mit.edu	37	19	49206451	49206451	+	Missense_Mutation	SNP	G	G	A	rs143120145	byFrequency	TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:49206451G>A	ENST00000425340.2	+	2	355	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	FUT2_ENST00000391876.4_Missense_Mutation_p.A80T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	80					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)	p.A80T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GGGCGAGTACGCCACACTGTA	0.627													G|||	3	0.000599042	0.0	0.0	5008	,	,		17472	0.0		0.003	False		,,,				2504	0.0					uc002pke.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(238-240)GCC>ACC		fucosyltransferase 2		G	THR/ALA,THR/ALA	0,4406		0,0,2203	51.0	47.0	48.0		238,238	3.3	1.0	19	dbSNP_134	48	11,8589	7.7+/-29.5	0,11,4289	no	missense,missense	FUT2	NM_000511.5,NM_001097638.2	58,58	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	probably-damaging,probably-damaging	80/344,80/344	49206451	11,12995	2203	4300	6503	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206451G>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.238G>A	19.37:g.49206451G>A	ENSP00000387498:p.Ala80Thr					FUT2_uc010emc.2_Missense_Mutation_p.A80T	p.A80T	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	349	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	80			Lumenal (Potential).		Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.238G>A	CCDS33069.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	16.53	3.149112	0.57151	0.0	0.001279	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.97378	-4.36;-4.36;-4.36	4.33	3.27	0.37495	.	.	.	.	.	D	0.98498	0.9499	M	0.90922	3.16	0.37060	D	0.898009	D	0.89917	1.0	D	0.97110	1.0	D	0.99939	1.1391	9	0.87932	D	0	.	11.5043	0.50456	0.0:0.0:0.8188:0.1812	.	80	Q10981	FUT2_HUMAN	T	80	ENSP00000430227:A80T;ENSP00000387498:A80T;ENSP00000375748:A80T	ENSP00000375748:A80T	A	+	1	0	FUT2	53898263	1.000000	0.71417	0.983000	0.44433	0.297000	0.27493	3.303000	0.51858	0.917000	0.36895	0.549000	0.68633	GCC		PASS	0.627	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		9	46	9	46	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274601	51274601	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:51274601G>T	ENST00000270590.4	+	1	881	c.744G>T	c.(742-744)tgG>tgT	p.W248C		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	248					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.W248C(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGGAGGGCTGGGTCCATGCCA	0.612																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(742-744)TGG>TGT		G protein-coupled receptor 32							50.0	55.0	54.0					19																	51274601		2203	4297	6500	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274601G>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.744G>T	19.37:g.51274601G>T	ENSP00000270590:p.Trp248Cys						p.W248C	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	744	+		all_neural(266;0.131)	248			Cytoplasmic (Potential).		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.744G>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	1.882	-0.457574	0.04508	.	.	ENSG00000142511	ENST00000270590	T	0.36878	1.23	2.56	-0.101	0.13618	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39963	0.1098	L	0.33485	1.01	0.09310	N	1	D	0.57899	0.981	D	0.67231	0.95	T	0.21999	-1.0229	9	0.38643	T	0.18	.	5.1452	0.14981	0.1309:0.0:0.6681:0.201	.	248	O75388	GPR32_HUMAN	C	248	ENSP00000270590:W248C	ENSP00000270590:W248C	W	+	3	0	GPR32	55966413	0.048000	0.20356	0.045000	0.18777	0.347000	0.29111	1.392000	0.34486	-0.078000	0.12730	0.313000	0.20887	TGG		PASS	0.612	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			8	119	8	119	---	---	---	---
SIGLEC14	100049587	broad.mit.edu	37	19	52149112	52149112	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:52149112C>G	ENST00000360844.6	-	3	664	c.623G>C	c.(622-624)gGc>gCc	p.G208A	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	208	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G208A(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGTTGGTGCCATGGTCCTC	0.637																																						uc002pxf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(622-624)GGC>GCC		sialic acid binding Ig-like lectin 14 precursor							61.0	58.0	59.0					19																	52149112		2064	4192	6256	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149112C>G	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.623G>C	19.37:g.52149112C>G	ENSP00000354090:p.Gly208Ala						p.G208A	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	743	-		all_neural(266;0.0299)	208			Ig-like C2-type 1.|Extracellular (Potential).		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.623G>C	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281542	0.23392	.	.	ENSG00000254415	ENST00000360844	T	0.19938	2.11	3.1	-0.496	0.12027	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.380726	0.20697	N	0.087350	T	0.43722	0.1260	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.72625	0.978	T	0.22034	-1.0228	10	0.87932	D	0	.	5.6941	0.17845	0.0:0.608:0.0:0.392	.	208	Q08ET2	SIG14_HUMAN	A	208	ENSP00000354090:G208A	ENSP00000354090:G208A	G	-	2	0	SIGLEC14	56840924	0.723000	0.28027	0.115000	0.21578	0.200000	0.23975	1.031000	0.30165	-0.108000	0.12066	-0.346000	0.07831	GGC		PASS	0.637	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		25	64	25	64	---	---	---	---
ZNF415	55786	broad.mit.edu	37	19	53612976	53612976	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:53612976T>C	ENST00000500065.4	-	4	655	c.322A>G	c.(322-324)Aac>Gac	p.N108D	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.N156D|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.N95D|ZNF415_ENST00000455735.2_Missense_Mutation_p.N156D|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.N108D|ZNF415_ENST00000421033.1_Missense_Mutation_p.N120D|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000601215.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N108D(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTCACTTTGTTGCAATTTCTT	0.373																																						uc002qax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(466-468)AAC>GAC		RecName: Full=Zinc finger protein 415;							132.0	120.0	124.0					19																	53612976		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612976T>C	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.322A>G	19.37:g.53612976T>C	ENSP00000439435:p.Asn108Asp					ZNF415_uc002qat.2_Missense_Mutation_p.N120D|ZNF415_uc002qaw.2_Missense_Mutation_p.N108D|ZNF415_uc010yds.1_Missense_Mutation_p.N108D|ZNF415_uc010ydt.1_Missense_Mutation_p.N108D|ZNF415_uc002qau.2_Missense_Mutation_p.N95D|ZNF415_uc002qav.2_Missense_Mutation_p.N120D|ZNF415_uc002qba.2_5'UTR|ZNF415_uc002qay.2_Missense_Mutation_p.N95D|ZNF415_uc002qaz.2_Missense_Mutation_p.N156D	p.N156D	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	815	-			156					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.466A>G	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466026	0.26335	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25	2.83	-2.39	0.06602	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B;P;B;B;B;B	0.47762	0.034;0.9;0.067;0.028;0.065;0.11	B;B;B;B;B;B	0.40940	0.017;0.344;0.007;0.001;0.017;0.017	T	0.34925	-0.9809	9	0.33940	T	0.23	.	4.0563	0.09818	0.0:0.4017:0.2072:0.3911	.	108;156;156;108;95;120	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	D	108;108;156;120;156;95	ENSP00000243643:N108D;ENSP00000439435:N108D;ENSP00000396492:N156D;ENSP00000395055:N120D;ENSP00000388787:N156D;ENSP00000414601:N95D	ENSP00000243643:N108D	N	-	1	0	ZNF415	58304788	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.568000	0.05909	-0.840000	0.04206	0.260000	0.18958	AAC		PASS	0.373	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		9	214	9	214	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54760442	54760442	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:54760442C>A	ENST00000316219.5	-	3	372	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	LILRB5_ENST00000449561.2_Missense_Mutation_p.V89L|LILRB5_ENST00000345866.6_Missense_Mutation_p.V89L|LILRB5_ENST00000450632.1_Missense_Mutation_p.V89L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	89	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.V89L(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTCATACACCGTGGATGGA	0.607																																						uc002qex.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(265-267)GTG>TTG		leukocyte immunoglobulin-like receptor,							236.0	224.0	228.0					19																	54760442		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760442C>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.265G>T	19.37:g.54760442C>A	ENSP00000320390:p.Val89Leu					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.V89L|LILRB5_uc002qey.2_Missense_Mutation_p.V89L|LILRB5_uc002qez.2_Missense_Mutation_p.V89L|LILRB5_uc002qfa.1_Missense_Mutation_p.V79L|LILRB5_uc010yes.1_RNA	p.V89L	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	376	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		89			Ig-like C2-type 1.|Extracellular (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.265G>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268598	0.23136	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	3.27	0.962	0.19643	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.687350	0.01420	N	0.014321	T	0.13670	0.0331	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.27882	0.061;0.192;0.035;0.009;0.008	B;B;B;B;B	0.38842	0.063;0.283;0.05;0.004;0.071	T	0.35871	-0.9771	10	0.72032	D	0.01	.	3.0841	0.06272	0.0:0.1497:0.2505:0.5998	.	89;80;89;89;89	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	L	89	ENSP00000320390:V89L;ENSP00000414225:V89L;ENSP00000406478:V89L;ENSP00000263430:V89L	ENSP00000320390:V89L	V	-	1	0	LILRB5	59452254	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.022000	0.01439	0.025000	0.15241	-0.510000	0.04470	GTG		PASS	0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			57	486	57	486	---	---	---	---
LENG9	94059	broad.mit.edu	37	19	54974197	54974197	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:54974197C>G	ENST00000333834.4	-	1	697	c.579G>C	c.(577-579)gaG>gaC	p.E193D		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	193							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.E171D(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		ACTCGGCACCCTCTGCCCCGT	0.731																																						uc010yez.1																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)GAG>GAC		leukocyte receptor cluster (LRC) member 9							11.0	13.0	13.0					19																	54974197		2085	4138	6223	SO:0001583	missense	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54974197C>G	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.579G>C	19.37:g.54974197C>G	ENSP00000331647:p.Glu193Asp						p.E193D	NM_198988	NP_945339	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	698	-	Ovarian(34;0.19)		193					B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	c.579G>C	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124748	0.37533	.	.	ENSG00000182909	ENST00000333834	T	0.33216	1.42	3.91	-4.76	0.03229	.	0.755692	0.11098	U	0.599997	T	0.12732	0.0309	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24764	-1.0151	10	0.22706	T	0.39	-5.4087	2.3015	0.04163	0.1285:0.4694:0.1976:0.2046	.	193	Q96B70	LENG9_HUMAN	D	193	ENSP00000331647:E193D	ENSP00000331647:E193D	E	-	3	2	LENG9	59666009	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.115000	0.10741	-0.740000	0.04803	0.555000	0.69702	GAG		PASS	0.731	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		4	26	4	26	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55451509	55451509	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:55451509C>T	ENST00000590030.1	-	3	718	c.678G>A	c.(676-678)ctG>ctA	p.L226L	NLRP7_ENST00000448121.2_Silent_p.L226L|NLRP7_ENST00000588756.1_Silent_p.L226L|NLRP7_ENST00000592784.1_Silent_p.L226L|NLRP7_ENST00000340844.2_Silent_p.L226L|NLRP7_ENST00000328092.5_Silent_p.L226L|NLRP7_ENST00000446217.1_Silent_p.L254L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	226	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.L226L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTTTGGAGATCAGCTCTGCAA	0.552																																						uc002qih.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(676-678)CTG>CTA		NACHT, leucine rich repeat and PYD containing 7							114.0	112.0	113.0					19																	55451509		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451509C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.678G>A	19.37:g.55451509C>T						NLRP7_uc002qig.3_Silent_p.L226L|NLRP7_uc002qii.3_Silent_p.L226L|NLRP7_uc010esk.2_Silent_p.L226L|NLRP7_uc010esl.2_Silent_p.L254L	p.L226L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	754	-			226			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.678G>A	CCDS33109.1																																																																																				PASS	0.552	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		19	162	19	162	---	---	---	---
HSPBP1	23640	broad.mit.edu	37	19	55776691	55776691	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:55776691G>A	ENST00000255631.5	-	8	1270	c.960C>T	c.(958-960)ctC>ctT	p.L320L	HSPBP1_ENST00000587922.1_Silent_p.L320L|HSPBP1_ENST00000433386.2_Silent_p.L320L|HSPBP1_ENST00000376343.3_Silent_p.L218L	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	323					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)	p.L320L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGTGGCGGAGGAGCTCCTCCA	0.657																																						uc002qjx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1096-1098)CTC>CTT		hsp70-interacting protein							83.0	77.0	79.0					19																	55776691		2203	4300	6503	SO:0001819	synonymous_variant	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55776691G>A		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.960C>T	19.37:g.55776691G>A						HSPBP1_uc002qjy.2_Silent_p.L320L|HSPBP1_uc002qkb.2_Missense_Mutation_p.P317S|HSPBP1_uc002qka.2_Silent_p.L320L|HSPBP1_uc002qkd.2_Silent_p.L320L|HSPBP1_uc002qkc.2_Silent_p.L320L|uc002qke.2_5'Flank	p.L366L	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	6	1208	-			323					B3KQP0|B4DG11|O95351|Q6ZNU5	Silent	SNP	ENST00000255631.5	37	c.1098C>T	CCDS33111.1																																																																																				PASS	0.657	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		42	87	42	87	---	---	---	---
ZFP28	140612	broad.mit.edu	37	19	57065666	57065666	+	Silent	SNP	C	C	T	rs200309652		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:57065666C>T	ENST00000301318.3	+	8	1583	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	504					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.P504P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GGGAGAAACCCTTTGATTGCA	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20289	0.0		0.0	False		,,,				2504	0.0				Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1510-1512)CCC>CCT		zinc finger protein 28							104.0	84.0	91.0					19																	57065666		2203	4300	6503	SO:0001819	synonymous_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065666C>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1512C>T	19.37:g.57065666C>T						uc002qnk.1_Intron	p.P504P	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1583	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	504					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	c.1512C>T	CCDS12946.1																																																																																				PASS	0.438	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		37	113	37	113	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57326170	57326170	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:57326170C>A	ENST00000326441.9	-	10	4003	c.3640G>T	c.(3640-3642)Gca>Tca	p.A1214S	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1088S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A1090S|PEG3_ENST00000423103.2_Missense_Mutation_p.A1214S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1214					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A1214S(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCCTCTCTGCAGCACGATTC	0.488																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3640-3642)GCA>TCA		paternally expressed 3 isoform 1							105.0	101.0	102.0					19																	57326170		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326170C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3640G>T	19.37:g.57326170C>A	ENSP00000326581:p.Ala1214Ser					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A1185S|PEG3_uc002qnv.2_Missense_Mutation_p.A1214S|PEG3_uc002qnw.2_Missense_Mutation_p.A1090S|PEG3_uc002qnx.2_Missense_Mutation_p.A1088S|PEG3_uc010etr.2_Missense_Mutation_p.A1214S	p.A1214S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3991	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1214					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3640G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	5.993	0.367064	0.11352	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02709	4.19;4.19	4.06	0.695	0.18070	.	0.682368	0.12816	N	0.436839	T	0.01387	0.0045	N	0.08118	0	.	.	.	B;B;B	0.18863	0.01;0.031;0.03	B;B;B	0.14023	0.003;0.006;0.01	T	0.45101	-0.9284	9	0.25751	T	0.34	-5.0161	1.6612	0.02792	0.2986:0.3501:0.2396:0.1117	.	1090;1214;1149	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1214	ENSP00000326581:A1214S;ENSP00000403051:A1214S	ENSP00000326581:A1214S	A	-	1	0	ZIM2	62017982	0.000000	0.05858	0.002000	0.10522	0.665000	0.39181	-0.241000	0.08940	0.269000	0.21961	0.655000	0.94253	GCA		PASS	0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			45	110	45	110	---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58805630	58805630	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:58805630G>A	ENST00000196548.5	+	4	587	c.456G>A	c.(454-456)gaG>gaA	p.E152E	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Silent_p.E152E			P17098	ZNF8_HUMAN	zinc finger protein 8	152					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E152E(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CACTCAAGGAGCAGAATAACT	0.507																																						uc002qry.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(454-456)GAG>GAA		zinc finger protein 8							57.0	48.0	51.0					19																	58805630		2203	4300	6503	SO:0001819	synonymous_variant	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58805630G>A	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.456G>A	19.37:g.58805630G>A						ZNF8_uc002qrz.2_RNA	p.E152E	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	586	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	152					Q6PI99	Silent	SNP	ENST00000196548.5	37	c.456G>A	CCDS12974.1																																																																																				PASS	0.507	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		16	38	16	38	---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3520918	3520918	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr20:3520918A>T	ENST00000262919.5	+	3	612	c.544A>T	c.(544-546)Agt>Tgt	p.S182C	ATRN_ENST00000446916.2_Missense_Mutation_p.S182C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	182	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S182C(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TACAGAGTGTAGTTGGGACCA	0.338																																						uc002wim.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(544-546)AGT>TGT		attractin isoform 1							181.0	178.0	179.0					20																	3520918		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3520918A>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.544A>T	20.37:g.3520918A>T	ENSP00000262919:p.Ser182Cys					ATRN_uc002wil.2_Missense_Mutation_p.S182C	p.S182C	NM_139321	NP_647537	O75882	ATRN_HUMAN			3	634	+			182			Extracellular (Potential).|CUB.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.544A>T	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543322	0.86022	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.18810	2.19;2.19	5.08	5.08	0.68730	CUB (5);	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	0.986;1.0	D;D	0.87578	0.93;0.998	T	0.44937	-0.9295	10	0.66056	D	0.02	-17.3206	13.9687	0.64225	1.0:0.0:0.0:0.0	.	182;182	O75882;O75882-2	ATRN_HUMAN;.	C	182;182;108	ENSP00000262919:S182C;ENSP00000416587:S182C	ENSP00000262919:S182C	S	+	1	0	ATRN	3468918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.766000	0.91728	2.122000	0.65172	0.528000	0.53228	AGT		PASS	0.338	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		70	372	70	372	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44665972	44665972	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr20:44665972G>T	ENST00000454036.2	+	6	678	c.629G>T	c.(628-630)gGc>gTc	p.G210V	SLC12A5_ENST00000372315.1_Missense_Mutation_p.G187V|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G187V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	210					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.G187V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTCTACCTGGGCACTACCTTT	0.567																																						uc010zxl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(628-630)GGC>GTC		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						89.0	75.0	80.0					20																	44665972		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44665972G>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.629G>T	20.37:g.44665972G>T	ENSP00000387694:p.Gly210Val					SLC12A5_uc002xra.2_Missense_Mutation_p.G187V|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G187V	p.G210V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			6	705	+		Myeloproliferative disorder(115;0.0122)	210			Helical; (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.629G>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591755	0.86953	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000243964	D;D;D	0.98419	-4.92;-4.92;-4.92	4.79	4.79	0.61399	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99266	0.9744	H	0.95224	3.64	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79784	0.993;0.983;0.987	D	0.98847	1.0757	10	0.87932	D	0	.	17.0107	0.86405	0.0:0.0:1.0:0.0	.	210;187;187	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	V	210;187;187	ENSP00000387694:G210V;ENSP00000361389:G187V;ENSP00000243964:G187V	ENSP00000243964:G187V	G	+	2	0	SLC12A5	44099379	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.657000	0.98554	2.492000	0.84095	0.655000	0.94253	GGC		PASS	0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			14	59	14	59	---	---	---	---
CD40	958	broad.mit.edu	37	20	44755307	44755307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr20:44755307C>T	ENST00000372285.3	+	6	598	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Intron	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	176					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)	p.Q176*(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				GGTTGTGCAACAGGCAGGCAC	0.498									Immune Deficiency with Hyper-IgM																													uc002xrg.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|skin(1)	2						c.(526-528)CAG>TAG		CD40 antigen isoform 1 precursor	Simvastatin(DB00641)						190.0	146.0	161.0					20																	44755307		2203	4300	6503	SO:0001587	stop_gained	958	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44755307C>T	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.526C>T	20.37:g.44755307C>T	ENSP00000361359:p.Gln176*					CD40_uc002xrh.1_Intron|CD40_uc002xri.1_Nonsense_Mutation_p.Q176*|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_Intron|CD40_uc002xrl.1_5'Flank	p.Q176*	NM_001250	NP_001241	P25942	TNR5_HUMAN			6	603	+		Myeloproliferative disorder(115;0.0122)	176			TNFR-Cys 4.|Extracellular (Potential).		E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Nonsense_Mutation	SNP	ENST00000372285.3	37	c.526C>T	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344618	0.41498	.	.	ENSG00000101017	ENST00000372285	.	.	.	4.6	2.54	0.30619	.	1.426730	0.04212	N	0.331932	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-0.9655	7.5533	0.27810	0.2047:0.479:0.3162:0.0	.	.	.	.	X	176	.	ENSP00000361359:Q176X	Q	+	1	0	CD40	44188714	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.642000	0.24735	0.570000	0.29347	-0.494000	0.04653	CAG		PASS	0.498	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		20	129	20	129	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55027084	55027084	+	Silent	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr20:55027084T>C	ENST00000360314.3	+	6	1077	c.852T>C	c.(850-852)agT>agC	p.S284S	CASS4_ENST00000371336.3_Silent_p.S284S|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	284					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.S284S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ATCCTCCAAGTGGCAGATCCA	0.507																																						uc002xxp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(850-852)AGT>AGC		HEF-like protein isoform a							63.0	66.0	65.0					20																	55027084		2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027084T>C	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.852T>C	20.37:g.55027084T>C						CASS4_uc002xxq.3_Silent_p.S284S|CASS4_uc002xxr.2_Silent_p.S284S|CASS4_uc010zze.1_Silent_p.S230S|CASS4_uc010gio.2_Intron	p.S284S	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1077	+			284					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.852T>C	CCDS33492.1																																																																																				PASS	0.507	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		4	130	4	130	---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56227421	56227421	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr20:56227421G>A	ENST00000341744.3	-	4	871	c.552C>T	c.(550-552)cgC>cgT	p.R184R	PMEPA1_ENST00000347215.4_Silent_p.R149R|PMEPA1_ENST00000395814.1_Silent_p.R134R|PMEPA1_ENST00000395816.3_Silent_p.R134R|PMEPA1_ENST00000265626.4_Silent_p.R134R	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	184					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)	p.R184R(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TTGGGGGTGCGCGCACCGACT	0.677																																						uc002xyq.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	pancreas(1)	1						c.(550-552)CGC>CGT		transmembrane prostate androgen-induced protein							39.0	41.0	40.0					20																	56227421		2203	4300	6503	SO:0001819	synonymous_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227421G>A	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.552C>T	20.37:g.56227421G>A						PMEPA1_uc002xyr.2_Silent_p.R134R|PMEPA1_uc002xys.2_Silent_p.R149R|PMEPA1_uc002xyt.2_Silent_p.R134R	p.R184R	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN			4	945	-			184			Cytoplasmic (Potential).		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	ENST00000341744.3	37	c.552C>T	CCDS13463.1																																																																																				PASS	0.677	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		11	51	11	51	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57415203	57415203	+	Silent	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr20:57415203C>A	ENST00000313949.7	+	1	431	c.42C>A	c.(40-42)cgC>cgA	p.R14R	GNAS_ENST00000371098.2_Silent_p.R14R|GNAS_ENST00000371075.3_Silent_p.R14R|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R14R(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCGAGCTCGCCATAATTACA	0.682			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzt.2				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		1	Substitution - coding silent(1)		lung(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(40-42)CGC>CGA		GNAS complex locus NESP55							30.0	37.0	35.0					20																	57415203		2199	4292	6491	SO:0001819	synonymous_variant	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415203C>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.42C>A	20.37:g.57415203C>A		TSP Lung(22;0.16)				GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	p.R14R	NM_016592	NP_057676	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	409	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	c.42C>A	CCDS13471.1																																																																																				PASS	0.682	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		9	66	9	66	---	---	---	---
NTSR1	4923	broad.mit.edu	37	20	61386124	61386124	+	Missense_Mutation	SNP	C	C	A	rs140186245	byFrequency	TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr20:61386124C>A	ENST00000370501.3	+	2	1173	c.802C>A	c.(802-804)Cgc>Agc	p.R268S		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	268					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.R268S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGTCATGGTACGCCAGGCGGC	0.622																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(802-804)CGC>AGC		neurotensin receptor 1							129.0	104.0	113.0					20																	61386124		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386124C>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.802C>A	20.37:g.61386124C>A	ENSP00000359532:p.Arg268Ser						p.R268S	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1173	+	Breast(26;3.65e-08)		268			Cytoplasmic (Potential).		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.802C>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	c	2.413	-0.334825	0.05278	.	.	ENSG00000101188	ENST00000370501	T	0.41400	1.0	4.25	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.999600	0.08092	N	0.999188	T	0.20820	0.0501	N	0.01789	-0.72	0.31469	N	0.668597	B	0.21071	0.051	B	0.23419	0.046	T	0.24048	-1.0171	10	0.40728	T	0.16	-15.9644	11.0433	0.47844	0.5879:0.4121:0.0:0.0	.	268	P30989	NTR1_HUMAN	S	268	ENSP00000359532:R268S	ENSP00000359532:R268S	R	+	1	0	NTSR1	60856569	1.000000	0.71417	0.997000	0.53966	0.209000	0.24338	2.200000	0.42724	0.870000	0.35726	0.306000	0.20318	CGC		PASS	0.622	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			17	129	17	129	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61522414	61522414	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr20:61522414C>A	ENST00000266070.4	-	15	3764	c.3439G>T	c.(3439-3441)Ggt>Tgt	p.G1147C	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1147C|DIDO1_ENST00000395335.2_Missense_Mutation_p.G1147C|DIDO1_ENST00000395340.1_Missense_Mutation_p.G1147C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1147					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G1147C(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTACAACACCAAAGCGGCCA	0.557																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(3439-3441)GGT>TGT		death inducer-obliterator 1 isoform c							103.0	101.0	101.0					20																	61522414		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61522414C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3439G>T	20.37:g.61522414C>A	ENSP00000266070:p.Gly1147Cys					DIDO1_uc002yds.1_Missense_Mutation_p.G1147C|DIDO1_uc002ydt.1_Missense_Mutation_p.G1147C|DIDO1_uc002ydu.1_Missense_Mutation_p.G1147C	p.G1147C	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			15	3703	-	Breast(26;5.68e-08)		1147					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3439G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773461	0.69992	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.36157	1.54;1.54;1.27;1.27	5.24	4.3	0.51218	Spen paralogue and orthologue SPOC, C-terminal (1);	0.000000	0.43919	D	0.000506	T	0.62672	0.2447	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.69606	-0.5100	10	0.87932	D	0	-39.7374	14.1602	0.65441	0.0:0.9274:0.0:0.0726	.	1147;1147	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	C	1147	ENSP00000266070:G1147C;ENSP00000378752:G1147C;ENSP00000378749:G1147C;ENSP00000378744:G1147C	ENSP00000266070:G1147C	G	-	1	0	DIDO1	60992859	1.000000	0.71417	0.252000	0.24328	0.594000	0.36715	7.624000	0.83124	1.342000	0.45619	-0.140000	0.14226	GGT		PASS	0.557	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		15	85	15	85	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15561360	15561360	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr21:15561360G>C	ENST00000536861.1	-	2	426	c.427C>G	c.(427-429)Ctt>Gtt	p.L143V	LIPI_ENST00000344577.2_Missense_Mutation_p.L164V			Q6XZB0	LIPI_HUMAN	lipase, member I	143					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.L164V(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTTACCAAAAGATTTTTAATG	0.333																																						uc002yjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(490-492)CTT>GTT		lipase, member I							35.0	40.0	38.0					21																	15561360		2200	4289	6489	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561360G>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.427C>G	21.37:g.15561360G>C	ENSP00000440381:p.Leu143Val					LIPI_uc010gkw.1_Missense_Mutation_p.L97V	p.L164V	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	500	-			143					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.490C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.17|14.17	2.456767|2.456767	0.43634|0.43634	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211	D;D|.	0.95377|.	-3.69;-3.69|.	5.12|5.12	4.18|4.18	0.49190|0.49190	.|.	0.097761|.	0.64402|.	D|.	0.000004|.	T|T	0.68961|0.68961	0.3058|0.3058	M|M	0.84683|0.84683	2.71|2.71	0.31221|0.31221	N|N	0.697415|0.697415	P;P|.	0.48503|.	0.911;0.851|.	P;P|.	0.54590|.	0.756;0.493|.	T|T	0.72561|0.72561	-0.4256|-0.4256	10|5	0.87932|.	D|.	0|.	.|.	12.6081|12.6081	0.56535|0.56535	0.0:0.0:0.7181:0.2819|0.0:0.0:0.7181:0.2819	.|.	143;164|.	G1JSG6;Q6XZB0-2|.	.;.|.	V|C	164;143;38|22	ENSP00000343331:L164V;ENSP00000440381:L143V|.	ENSP00000343331:L164V|.	L|S	-|-	1|2	0|0	LIPI|LIPI	14483231|14483231	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.790000|0.790000	0.44656|0.44656	3.316000|3.316000	0.51960|0.51960	2.561000|2.561000	0.86390|0.86390	0.650000|0.650000	0.86243|0.86243	CTT|TCT		PASS	0.333	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		8	115	8	115	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22746194	22746194	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr21:22746194C>T	ENST00000400546.1	+	9	1305	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	NCAM2_ENST00000284894.7_Silent_p.G210G|NCAM2_ENST00000535285.1_Silent_p.G377G	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	352	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G352G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCCTGGACGGCCGTATCGAAG	0.413																																						uc002yld.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1054-1056)GGC>GGT		neural cell adhesion molecule 2 precursor							120.0	112.0	114.0					21																	22746194		1907	4115	6022	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22746194C>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1056C>T	21.37:g.22746194C>T						NCAM2_uc011acb.1_Silent_p.G210G|NCAM2_uc011acc.1_Silent_p.G377G	p.G352G	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	9	1305	+		Lung NSC(9;0.195)	352			Ig-like C2-type 4.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1056C>T	CCDS42910.1																																																																																				PASS	0.413	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		4	147	4	147	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46021554	46021554	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr21:46021554T>G	ENST00000380102.2	+	1	1058	c.1033T>G	c.(1033-1035)Tgc>Ggc	p.C345G	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	345	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GGCCAGCTGCTGCCGCCCAGC	0.701																																						uc002zfn.3																			0					0						c.(1018-1020)TGC>GGC		keratin associated protein 10-7							32.0	38.0	36.0					21																	46021554		2192	4279	6471	SO:0001583	missense	386675					keratin filament		g.chr21:46021554T>G	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.1033T>G	21.37:g.46021554T>G	ENSP00000369445:p.Cys345Gly					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C340G	NM_198689	NP_941962	P60409	KR107_HUMAN			2	1043	+			345			29.|30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.1018T>G		.	.	.	.	.	.	.	.	.	.	t	10.73	1.432854	0.25813	.	.	ENSG00000205441	ENST00000380102	T	0.00730	5.77	3.73	3.73	0.42828	.	.	.	.	.	T	0.01627	0.0052	M	0.83223	2.63	0.36806	D	0.885603	P	0.46142	0.873	B	0.40009	0.316	T	0.55655	-0.8107	9	0.56958	D	0.05	.	10.6665	0.45734	0.0:0.0:0.0:1.0	.	340	P60409-2	.	G	345	ENSP00000369445:C345G	ENSP00000369445:C345G	C	+	1	0	KRTAP10-7	44845982	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	1.528000	0.35985	1.473000	0.48159	0.383000	0.25322	TGC		PASS	0.701	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		11	40	11	40	---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47423790	47423790	+	Missense_Mutation	SNP	C	C	A	rs568039462		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr21:47423790C>A	ENST00000361866.3	+	35	3064	c.2950C>A	c.(2950-2952)Cgc>Agc	p.R984S	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	984	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)	p.R984S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCCCCACATCCGCGTCCTGGT	0.677																																						uc002zhu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2950-2952)CGC>AGC		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						51.0	50.0	50.0					21																	47423790		2203	4299	6502	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423790C>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2950C>A	21.37:g.47423790C>A	ENSP00000355180:p.Arg984Ser					COL6A1_uc010gqd.1_Missense_Mutation_p.R315S|COL6A1_uc002zhv.1_Missense_Mutation_p.R315S|COL6A1_uc002zhw.1_Missense_Mutation_p.R78S	p.R984S	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	3052	+	all_hematologic(128;0.24)		984			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.2950C>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330530	0.81690	.	.	ENSG00000142156	ENST00000361866	D	0.84298	-1.83	4.83	4.83	0.62350	von Willebrand factor, type A (3);	0.066281	0.64402	D	0.000008	D	0.85881	0.5800	L	0.56769	1.78	0.53005	D	0.999963	P	0.39964	0.697	P	0.45232	0.474	D	0.84137	0.0415	10	0.26408	T	0.33	-20.0466	17.9387	0.89020	0.0:1.0:0.0:0.0	.	984	P12109	CO6A1_HUMAN	S	984	ENSP00000355180:R984S	ENSP00000355180:R984S	R	+	1	0	COL6A1	46248218	0.861000	0.29849	0.906000	0.35671	0.978000	0.69477	3.434000	0.52841	2.232000	0.73038	0.596000	0.82720	CGC		PASS	0.677	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		29	66	29	66	---	---	---	---
AP1B1	162	broad.mit.edu	37	22	29726514	29726514	+	Silent	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr22:29726514C>T	ENST00000405198.1	-	20	2650	c.2619G>A	c.(2617-2619)gcG>gcA	p.A873A	AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000415447.1_Silent_p.A866A|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000402502.1_Silent_p.A866A|AP1B1_ENST00000357586.2_Silent_p.A873A|AP1B1_ENST00000432560.2_Silent_p.A866A|AP1B1_ENST00000317368.7_Silent_p.A846A|AP1B1_ENST00000356015.2_Silent_p.A866A			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	873					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.A873A(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTTGCTGCTCGCAGCCTCTG	0.652																																						uc003afj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2617-2619)GCG>GCA		adaptor-related protein complex 1 beta 1 subunit							70.0	64.0	66.0					22																	29726514		2203	4300	6503	SO:0001819	synonymous_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29726514C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2619G>A	22.37:g.29726514C>T						AP1B1_uc003afi.2_Silent_p.A866A|AP1B1_uc003afk.2_Silent_p.A866A|AP1B1_uc003afl.2_Silent_p.A846A|AP1B1_uc003afh.2_Silent_p.A70A|AP1B1_uc011ako.1_Silent_p.A426A	p.A873A	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			21	2803	-			873					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.2619G>A	CCDS13855.1																																																																																				PASS	0.652	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		29	92	29	92	---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30185168	30185168	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr22:30185168C>T	ENST00000397771.2	-	21	2285	c.2108G>A	c.(2107-2109)cGg>cAg	p.R703Q	ASCC2_ENST00000307790.3_Missense_Mutation_p.R703Q|ASCC2_ENST00000542393.1_Missense_Mutation_p.R627Q			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	703					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R703Q(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GCTGTCATGCCGGTACCTGAG	0.642																																						uc003agr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2107-2109)CGG>CAG		activating signal cointegrator 1 complex subunit							188.0	172.0	177.0					22																	30185168		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30185168C>T	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.2108G>A	22.37:g.30185168C>T	ENSP00000380877:p.Arg703Gln					ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.R703Q|ASCC2_uc011akr.1_Missense_Mutation_p.R627Q	p.R703Q	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		20	2213	-			703					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.2108G>A	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738499	0.89573	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.11385	2.78;2.78;2.8	5.89	4.88	0.63580	.	0.113985	0.56097	D	0.000028	T	0.21962	0.0529	L	0.58101	1.795	0.45837	D	0.998702	D;D	0.76494	0.999;0.995	D;P	0.63381	0.914;0.656	T	0.00507	-1.1699	10	0.22109	T	0.4	-23.0336	9.9092	0.41394	0.0:0.86:0.0:0.14	.	627;703	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	Q	703;703;627	ENSP00000305502:R703Q;ENSP00000380877:R703Q;ENSP00000437570:R627Q	ENSP00000305502:R703Q	R	-	2	0	ASCC2	28515168	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.648000	0.37271	2.793000	0.96121	0.561000	0.74099	CGG		PASS	0.642	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		9	431	9	431	---	---	---	---
TCN2	6948	broad.mit.edu	37	22	31019016	31019016	+	Missense_Mutation	SNP	G	G	A	rs367605153		TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr22:31019016G>A	ENST00000215838.3	+	8	1662	c.1168G>A	c.(1168-1170)Gga>Aga	p.G390R	TCN2_ENST00000407817.3_Missense_Mutation_p.G363R|TCN2_ENST00000405742.3_Missense_Mutation_p.G386R			P20062	TCO2_HUMAN	transcobalamin II	390					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.G390R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAAGCGGCCGGAGAAAGGGA	0.562																																						uc003aip.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1168-1170)GGA>AGA		transcobalamin II precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						86.0	83.0	84.0					22																	31019016		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31019016G>A		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.1168G>A	22.37:g.31019016G>A	ENSP00000215838:p.Gly390Arg					TCN2_uc003aiq.1_Missense_Mutation_p.G386R|TCN2_uc003air.1_Missense_Mutation_p.G363R	p.G390R	NM_000355	NP_000346	P20062	TCO2_HUMAN			8	1326	+			390					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.1168G>A	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	2.754	-0.259317	0.05791	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.33654	1.4;1.4;1.4	5.51	3.37	0.38596	.	0.344806	0.35179	N	0.003389	T	0.27241	0.0668	L	0.48877	1.53	0.21064	N	0.999796	B;B;B	0.24768	0.111;0.088;0.088	B;B;B	0.17722	0.019;0.01;0.01	T	0.14172	-1.0482	10	0.16896	T	0.51	-9.7689	10.1701	0.42904	0.1634:0.0:0.8366:0.0	.	363;386;390	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	R	390;386;363	ENSP00000215838:G390R;ENSP00000385914:G386R;ENSP00000384914:G363R	ENSP00000215838:G390R	G	+	1	0	TCN2	29349016	0.002000	0.14202	0.132000	0.22025	0.096000	0.18686	1.078000	0.30754	1.306000	0.44926	0.585000	0.79938	GGA		PASS	0.562	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		14	135	14	135	---	---	---	---
RTCB	51493	broad.mit.edu	37	22	32791054	32791054	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr22:32791054C>A	ENST00000216038.5	-	9	1236	c.1138G>T	c.(1138-1140)Gct>Tct	p.A380S	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.A380S(1)									GGAGGGAAAGCGCGGGTGGAT	0.478																																						uc003amm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1138-1140)GCT>TCT		hypothetical protein LOC51493							236.0	165.0	189.0					22																	32791054		2203	4300	6503	SO:0001583	missense	51493				cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding	g.chr22:32791054C>A	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.1138G>T	22.37:g.32791054C>A	ENSP00000216038:p.Ala380Ser						p.A380S	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN			9	1269	-			380						Missense_Mutation	SNP	ENST00000216038.5	37	c.1138G>T	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204718	0.79127	.	.	ENSG00000100220	ENST00000216038	T	0.50548	0.74	5.79	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	L	0.51853	1.615	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.58797	-0.7573	10	0.51188	T	0.08	-14.38	12.1277	0.53926	0.0:0.8622:0.0:0.1378	.	380	Q9Y3I0	RTCB_HUMAN	S	380	ENSP00000216038:A380S	ENSP00000216038:A380S	A	-	1	0	C22orf28	31121054	1.000000	0.71417	0.017000	0.16124	0.904000	0.53231	7.733000	0.84916	0.801000	0.34066	0.555000	0.69702	GCT		PASS	0.478	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		11	122	11	122	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120361	38120361	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr22:38120361A>G	ENST00000406386.3	+	7	2053	c.1798A>G	c.(1798-1800)Aca>Gca	p.T600A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	600					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.N597fs*18(1)|p.T600A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAACCCCACAACATCCTGTGC	0.577																																						uc003atr.2																			2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(1)|prostate(1)	central_nervous_system(1)	1						c.(1798-1800)ACA>GCA		TRIO and F-actin binding protein isoform 6							85.0	122.0	110.0					22																	38120361		1938	4137	6075	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120361A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1798A>G	22.37:g.38120361A>G	ENSP00000384312:p.Thr600Ala					TRIOBP_uc003atu.2_Missense_Mutation_p.T428A|TRIOBP_uc003atq.1_Missense_Mutation_p.T600A|TRIOBP_uc003ats.1_Missense_Mutation_p.T428A	p.T600A	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2069	+	Melanoma(58;0.0574)		600					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1798A>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	3.930	-0.016408	0.07681	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19938	2.11	2.34	-0.12	0.13539	.	.	.	.	.	T	0.14356	0.0347	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32613	-0.9900	9	0.23891	T	0.37	.	4.4675	0.11696	0.6293:0.0:0.3707:0.0	.	600	Q9H2D6	TARA_HUMAN	A	600	ENSP00000384312:T600A	ENSP00000384312:T600A	T	+	1	0	TRIOBP	36450307	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.804000	0.04535	0.097000	0.17492	0.254000	0.18369	ACA		PASS	0.577	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			14	157	14	157	---	---	---	---
MCHR1	2847	broad.mit.edu	37	22	41077401	41077401	+	Silent	SNP	T	T	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr22:41077401T>G	ENST00000249016.4	+	2	1434	c.738T>G	c.(736-738)ccT>ccG	p.P246P	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	246					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)	p.P246P(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCATCACCCCTGTGTGGCTGT	0.612																																						uc003ayz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(736-738)CCT>CCG		G protein-coupled receptor 24							98.0	83.0	88.0					22																	41077401		2203	4300	6503	SO:0001819	synonymous_variant	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077401T>G		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.738T>G	22.37:g.41077401T>G						MCHR1_uc003aza.2_Silent_p.P135P	p.P246P	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			2	1006	+			246			Helical; Name=4; (Potential).		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.738T>G	CCDS14004.1																																																																																				PASS	0.612	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		28	151	28	151	---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41739497	41739497	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr22:41739497G>A	ENST00000352645.4	+	13	1633	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R459Q	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	475					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R459Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGCCGGCTCCGGAGCTCGGAG	0.667																																						uc003azw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1375-1377)CGG>CAG		zinc finger CCCH-type containing 7B							42.0	44.0	43.0					22																	41739497		2203	4299	6502	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41739497G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1376G>A	22.37:g.41739497G>A	ENSP00000345793:p.Arg459Gln					ZC3H7B_uc010gyl.1_Intron	p.R459Q	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			13	1592	+			475					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.1376G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485944	0.84854	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.24350	1.86;1.86	5.58	4.57	0.56435	.	0.178934	0.48767	D	0.000167	T	0.15176	0.0366	N	0.19112	0.55	0.33015	D	0.528038	P	0.46220	0.874	B	0.39465	0.3	T	0.12553	-1.0543	10	0.72032	D	0.01	-30.6169	8.1317	0.31031	0.22:0.0:0.78:0.0	.	459	Q9UGR2-2	.	Q	459	ENSP00000345793:R459Q;ENSP00000263243:R459Q	ENSP00000263243:R459Q	R	+	2	0	ZC3H7B	40069443	0.995000	0.38212	0.966000	0.40874	0.987000	0.75469	2.720000	0.47252	2.640000	0.89533	0.491000	0.48974	CGG		PASS	0.667	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		10	89	10	89	---	---	---	---
FAM19A5	25817	broad.mit.edu	37	22	49042420	49042420	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr22:49042420G>C	ENST00000402357.1	+	2	257	c.124G>C	c.(124-126)Gcc>Ccc	p.A42P	FAM19A5_ENST00000358295.5_Missense_Mutation_p.A35P|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	42						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A42P(1)|p.A35P(1)		large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		TCAGCTGGCCGCCGGCACCTG	0.667																																						uc003bim.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(124-126)GCC>CCC		family with sequence similarity 19 (chemokine							30.0	38.0	35.0					22																	49042420		2094	4239	6333	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042420G>C	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.124G>C	22.37:g.49042420G>C	ENSP00000383933:p.Ala42Pro					FAM19A5_uc003bio.3_Missense_Mutation_p.A35P	p.A42P	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	241	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	42					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.124G>C	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830875	0.91036	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.68577	0.3016	L	0.37630	1.12	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.974;0.989	T	0.71951	-0.4437	8	0.87932	D	0	.	17.3357	0.87280	0.0:0.0:1.0:0.0	.	35;42	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	P	42;42;35	.	ENSP00000336812:A42P	A	+	1	0	FAM19A5	47428856	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.827000	0.92041	2.417000	0.82017	0.655000	0.94253	GCC		PASS	0.667	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		3	24	3	24	---	---	---	---
GLRA2	2742	broad.mit.edu	37	X	14748527	14748527	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:14748527C>A	ENST00000218075.4	+	9	1809	c.1279C>A	c.(1279-1281)Cca>Aca	p.P427T	GLRA2_ENST00000355020.4_Missense_Mutation_p.P427T|GLRA2_ENST00000443437.2_Missense_Mutation_p.P338T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	427					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.P427T(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AGCTGCCTTCCCATTGGCCTT	0.468																																						uc010nep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1279-1281)CCA>ACA		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						190.0	144.0	159.0					X																	14748527		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14748527C>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.1279C>A	X.37:g.14748527C>A	ENSP00000218075:p.Pro427Thr					GLRA2_uc010neq.2_Missense_Mutation_p.P427T|GLRA2_uc004cwe.3_Missense_Mutation_p.P427T|GLRA2_uc011mio.1_Missense_Mutation_p.P338T|GLRA2_uc011mip.1_Missense_Mutation_p.P405T	p.P427T	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			10	1611	+	Hepatocellular(33;0.128)		427			Helical; (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.1279C>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580145	0.86645	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.84730	-1.89;-1.89;-1.89	5.5	5.5	0.81552	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.999;0.981;1.0	D	0.95327	0.8426	10	0.87932	D	0	.	18.4797	0.90807	0.0:1.0:0.0:0.0	.	411;427;427	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	338;427;427	ENSP00000387756:P338T;ENSP00000218075:P427T;ENSP00000347123:P427T	ENSP00000218075:P427T	P	+	1	0	GLRA2	14658448	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.743000	0.85020	2.306000	0.77630	0.544000	0.68410	CCA		PASS	0.468	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			59	90	59	90	---	---	---	---
PTCHD1	139411	broad.mit.edu	37	X	23410788	23410788	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:23410788A>T	ENST00000379361.4	+	3	2013	c.1153A>T	c.(1153-1155)Acc>Tcc	p.T385S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	385	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.T385S(1)|p.T280S(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GTACCTGGTCACCTTTGGCAT	0.468																																						uc004dal.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|kidney(1)|skin(1)	6						c.(1153-1155)ACC>TCC		patched domain containing 1							120.0	100.0	107.0					X																	23410788		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23410788A>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1153A>T	X.37:g.23410788A>T	ENSP00000368666:p.Thr385Ser						p.T385S	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	1161	+			385			Helical; (Potential).|SSD.		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.1153A>T	CCDS35215.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.59|17.59	3.428451|3.428451	0.62844|0.62844	.|.	.|.	ENSG00000165186|ENSG00000165186	ENST00000456522|ENST00000379361	.|D	.|0.82081	.|-1.57	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Sterol-sensing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79381|0.79381	0.4436|0.4436	L|L	0.50333|0.50333	1.59|1.59	0.51482|0.51482	D|D	0.999924|0.999924	.|B	.|0.11235	.|0.004	.|B	.|0.24701	.|0.055	T|T	0.73636|0.73636	-0.3920|-0.3920	5|10	.|0.20519	.|T	.|0.43	.|.	14.5355|14.5355	0.67958|0.67958	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|385	.|Q96NR3	.|PTHD1_HUMAN	L|S	100|385	.|ENSP00000368666:T385S	.|ENSP00000368666:T385S	H|T	+|+	2|1	0|0	PTCHD1|PTCHD1	23320709|23320709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.910000|8.910000	0.92685|0.92685	1.881000|1.881000	0.54492|0.54492	0.486000|0.486000	0.48141|0.48141	CAC|ACC		PASS	0.468	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		53	78	53	78	---	---	---	---
SUPT20HL1	100130302	broad.mit.edu	37	X	24382696	24382696	+	IGR	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:24382696G>T								AC004552.1 (15673 upstream) : PDK3 (100641 downstream)														p.G612C(1)									AGGCTCCACTGGCCTAAAGGC	0.612																																						uc011mjx.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1819-1821)GGC>TGC		hypothetical protein LOC100130302							26.0	25.0	25.0					X																	24382696		1568	3582	5150	SO:0001628	intergenic_variant	100130302							g.chrX:24382696G>T																													X.37:g.24382696G>T							p.G607C	NM_001136234	NP_001129706					1	1819	+									Missense_Mutation	SNP		37	c.1819G>T																																																																																				0	PASS	0.612									14	11	14	11	---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48849876	48849876	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:48849876G>T	ENST00000376441.1	-	6	455	c.421C>A	c.(421-423)Cag>Aag	p.Q141K	GRIPAP1_ENST00000376423.4_Intron|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.Q96K|GRIPAP1_ENST00000473581.1_5'Flank|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.Q141K	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	141						blood microparticle (GO:0072562)|endosome (GO:0005768)		p.Q141K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTTTCAGCCTGTAGCCTCAGC	0.617																																						uc004dly.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|kidney(1)	3						c.(421-423)CAG>AAG		GRIP1 associated protein 1 isoform 1							65.0	47.0	53.0					X																	48849876		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48849876G>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.421C>A	X.37:g.48849876G>T	ENSP00000365624:p.Gln141Lys					GRIPAP1_uc004dlz.2_5'Flank|GRIPAP1_uc004dma.2_Intron	p.Q141K	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			6	456	-			141			Potential.		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.421C>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	g	32	5.118807	0.94385	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	T;T;T	0.25085	1.82;1.82;1.82	5.73	5.73	0.89815	.	0.068026	0.64402	D	0.000014	T	0.32852	0.0843	L	0.54323	1.7	0.80722	D	1	P	0.51147	0.942	P	0.47299	0.543	T	0.02398	-1.1165	10	0.35671	T	0.21	-20.0393	15.5872	0.76491	0.0:0.0:1.0:0.0	.	141	Q4V328	GRAP1_HUMAN	K	141;96;141;141	ENSP00000365608:Q141K;ENSP00000365627:Q96K;ENSP00000365624:Q141K	ENSP00000365608:Q141K	Q	-	1	0	GRIPAP1	48734820	1.000000	0.71417	0.997000	0.53966	0.903000	0.53119	8.029000	0.88807	2.391000	0.81399	0.597000	0.82753	CAG		PASS	0.617	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		3	18	3	18	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53642764	53642764	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:53642764C>T	ENST00000342160.3	-	21	2447	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N	HUWE1_ENST00000262854.6_Missense_Mutation_p.D664N|HUWE1_ENST00000218328.8_Missense_Mutation_p.D664N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	664					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.D664N(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGAGCTCATCGACAGCACTC	0.443																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(1990-1992)GAT>AAT		HECT, UBA and WWE domain containing 1							190.0	134.0	153.0					X																	53642764		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53642764C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1990G>A	X.37:g.53642764C>T	ENSP00000340648:p.Asp664Asn						p.D664N	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			22	2392	-			664					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1990G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558280	0.96514	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.63744	-0.06;-0.06;-0.06	5.75	5.75	0.90469	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-type fold (1);	0.061437	0.64402	D	0.000008	T	0.81465	0.4828	M	0.83223	2.63	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.83917	0.0299	10	0.72032	D	0.01	.	17.596	0.88012	0.0:1.0:0.0:0.0	.	664	Q7Z6Z7	HUWE1_HUMAN	N	664	ENSP00000340648:D664N;ENSP00000262854:D664N;ENSP00000218328:D664N	ENSP00000218328:D664N	D	-	1	0	HUWE1	53659489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.417000	0.80156	2.426000	0.82243	0.544000	0.68410	GAT		PASS	0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		29	39	29	39	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77267092	77267092	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:77267092C>G	ENST00000341514.6	+	9	2248	c.2093C>G	c.(2092-2094)tCt>tGt	p.S698C	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.S698C	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	698					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.S698C(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTTCATTCTTCTATGTTCCTG	0.383																																						uc004ecx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2092-2094)TCT>TGT		ATPase, Cu++ transporting, alpha polypeptide							233.0	223.0	226.0					X																	77267092		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77267092C>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2093C>G	X.37:g.77267092C>G	ENSP00000345728:p.Ser698Cys					ATP7A_uc004ecw.2_3'UTR	p.S698C	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			9	2253	+			698			Extracellular (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2093C>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595718	0.66219	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.90620	-2.7;-2.7	5.51	5.51	0.81932	.	0.259045	0.38720	N	0.001599	D	0.93112	0.7807	M	0.63843	1.955	0.80722	D	1	P	0.52463	0.953	P	0.53954	0.738	D	0.93717	0.7029	10	0.72032	D	0.01	2.6319	18.4754	0.90791	0.0:1.0:0.0:0.0	.	698	Q04656	ATP7A_HUMAN	C	698	ENSP00000343026:S698C;ENSP00000345728:S698C	ENSP00000345728:S698C	S	+	2	0	ATP7A	77153748	0.999000	0.42202	1.000000	0.80357	0.558000	0.35554	7.298000	0.78815	2.304000	0.77564	0.594000	0.82650	TCT		PASS	0.383	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		17	340	17	340	---	---	---	---
APOOL	139322	broad.mit.edu	37	X	84310876	84310876	+	Silent	SNP	G	G	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:84310876G>A	ENST00000373173.2	+	5	426	c.339G>A	c.(337-339)ccG>ccA	p.P113P		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	113						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.P113P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATTTTCTTCCGAAAATGGGAG	0.338																																						uc004eem.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(337-339)CCG>CCA		apolipoprotein O-like precursor							52.0	45.0	47.0					X																	84310876		1792	4059	5851	SO:0001819	synonymous_variant	139322					extracellular region		g.chrX:84310876G>A	AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"""chromosome X open reading frame 33"", ""family with sequence similarity 121A"""	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.339G>A	X.37:g.84310876G>A						APOOL_uc010nmp.2_Intron	p.P113P	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN			5	353	+			113					Q3KNU7|Q5H9D1	Silent	SNP	ENST00000373173.2	37	c.339G>A	CCDS48138.1																																																																																				PASS	0.338	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057385.2	NM_198450		15	8	15	8	---	---	---	---
TEX13A	56157	broad.mit.edu	37	X	104464752	104464752	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:104464752G>T	ENST00000413579.1	-	2	441	c.330C>A	c.(328-330)gaC>gaA	p.D110E	TEX13A_ENST00000372575.1_Missense_Mutation_p.D110E|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.D110E			Q9BXU3	TX13A_HUMAN	testis expressed 13A	110							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCTTCTTCAGGTCTGATGCCA	0.617																																						uc004ema.2																			0				ovary(2)	2						c.(328-330)GAC>GAA		testis expressed sequence 13A							33.0	34.0	33.0					X																	104464752		2182	4261	6443	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464752G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.330C>A	X.37:g.104464752G>T	ENSP00000399753:p.Asp110Glu					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.D110E	p.D110E	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	442	-			110					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.330C>A		.	.	.	.	.	.	.	.	.	.	G	6.762	0.509410	0.12883	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.84	-2.88	0.05682	.	0.693003	0.11871	N	0.521411	T	0.18002	0.0432	.	.	.	0.09310	N	1	P;P	0.35612	0.512;0.512	B;B	0.37198	0.243;0.243	T	0.21827	-1.0234	8	0.18710	T	0.47	.	3.2923	0.06953	0.2431:0.0:0.2663:0.4906	.	110;110	C9JWK0;Q9BXU3	.;TX13A_HUMAN	E	110	.	ENSP00000361656:D110E	D	-	3	2	TEX13A	104351408	0.012000	0.17670	0.000000	0.03702	0.015000	0.08874	-0.057000	0.11768	-0.966000	0.03587	-0.322000	0.08575	GAC		PASS	0.617	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		10	25	10	25	---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105279114	105279114	+	Silent	SNP	T	T	C			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:105279114T>C	ENST00000327674.4	-	2	1220	c.885A>G	c.(883-885)ttA>ttG	p.L295L	SERPINA7_ENST00000372563.1_Silent_p.L295L|SERPINA7_ENST00000487487.1_5'UTR			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	295					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L295L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCTTCTGTAGTAAGCGGTTCC	0.493																																						uc004eme.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(883-885)TTA>TTG		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						217.0	211.0	213.0					X																	105279114		2203	4300	6503	SO:0001819	synonymous_variant	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105279114T>C	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.885A>G	X.37:g.105279114T>C						SERPINA7_uc010npd.2_Silent_p.L295L|SERPINA7_uc010npe.1_Silent_p.L295L	p.L295L	NM_000354	NP_000345	P05543	THBG_HUMAN			2	901	-			295					D3DUX1	Silent	SNP	ENST00000327674.4	37	c.885A>G	CCDS14518.1																																																																																				PASS	0.493	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		132	203	132	203	---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112022909	112022909	+	Splice_Site	SNP	C	C	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:112022909C>A	ENST00000524145.1	-	11	2548		c.e11-1		AMOT_ENST00000371959.3_Splice_Site|AMOT_ENST00000371962.1_Splice_Site|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000304758.1_Splice_Site			Q4VCS5	AMOT_HUMAN	angiomotin						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.?(2)		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						AGGAGAATGCCTACAAATGAA	0.458																																						uc004epr.2																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e10-1		angiomotin isoform 1							56.0	49.0	51.0					X																	112022909		2203	4300	6503	SO:0001630	splice_region_variant	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:112022909C>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.2474-1G>T	X.37:g.112022909C>A						AMOT_uc004eps.2_Splice_Site_p.G416_splice|AMOT_uc011mtc.1_Intron	p.G825_splice	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			10	2474	-								Q504X5|Q9HD27|Q9UPT1	Splice_Site	SNP	ENST00000524145.1	37	c.2474_splice	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736223	0.49045	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9832	0.86334	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMOT	111909565	1.000000	0.71417	0.910000	0.35882	0.546000	0.35178	6.769000	0.74985	2.218000	0.71995	0.523000	0.50628	.		PASS	0.458	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265	Intron	19	26	19	26	---	---	---	---
RBMX	27316	broad.mit.edu	37	X	135960086	135960086	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:135960086C>T	ENST00000320676.7	-	4	530	c.376G>A	c.(376-378)Gga>Aga	p.G126R	RBMX_ENST00000562646.1_Missense_Mutation_p.G126R|RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Intron|SNORD61_ENST00000384252.1_RNA	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	126					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G126R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ATGTGTCCTCCCCGTGAGGGA	0.547																																						uc004fae.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)GGA>AGA		RNA binding motif protein, X-linked isoform 1							73.0	69.0	70.0					X																	135960086		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135960086C>T		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.376G>A	X.37:g.135960086C>T	ENSP00000359645:p.Gly126Arg					RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.G126R|RBMX_uc011mwg.1_Missense_Mutation_p.G87R|RBMX_uc004faf.1_Intron|RBMX_uc010nsf.1_Missense_Mutation_p.G87R|RBMX_uc004fag.1_5'UTR	p.G126R	NM_002139	NP_002130	P38159	HNRPG_HUMAN			4	586	-	Acute lymphoblastic leukemia(192;0.000127)		126					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.376G>A	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	17.72	3.460202	0.63401	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.81415	-1.49	5.65	5.65	0.86999	.	0.068843	0.64402	U	0.000018	D	0.86393	0.5922	M	0.72894	2.215	0.80722	D	1	B;D	0.64830	0.094;0.994	B;P	0.55713	0.025;0.782	D	0.86141	0.1581	10	0.41790	T	0.15	.	16.9816	0.86329	0.0:1.0:0.0:0.0	.	126;113	P38159;Q8N8Y7	HNRPG_HUMAN;.	R	126;113	ENSP00000359645:G126R	ENSP00000359645:G126R	G	-	1	0	RBMX	135787752	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	6.006000	0.70724	2.388000	0.81334	0.504000	0.49776	GGA		PASS	0.547	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		39	40	39	40	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995307	140995307	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:140995307C>G	ENST00000285879.4	+	4	2403	c.2117C>G	c.(2116-2118)tCt>tGt	p.S706C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	706								p.S706C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCCCTGTCTTCTCTCCAT	0.552										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2116-2118)TCT>TGT		melanoma antigen family C, 1							68.0	71.0	70.0					X																	140995307		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995307C>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2117C>G	X.37:g.140995307C>G	ENSP00000285879:p.Ser706Cys	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S706C	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2403	+	Acute lymphoblastic leukemia(192;6.56e-05)		706					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2117C>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	4.780	0.144958	0.09134	.	.	ENSG00000155495	ENST00000285879	T	0.02974	4.09	0.96	0.96	0.19631	.	.	.	.	.	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.49477	0.612	T	0.48019	-0.9071	9	0.87932	D	0	.	4.4278	0.11513	0.376:0.624:0.0:0.0	.	706	O60732	MAGC1_HUMAN	C	706	ENSP00000285879:S706C	ENSP00000285879:S706C	S	+	2	0	MAGEC1	140822973	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.013000	0.12678	0.187000	0.20147	0.190000	0.17370	TCT		PASS	0.552	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		85	90	85	90	---	---	---	---
FEZ2	9637	broad.mit.edu	37	2	36785621	36785622	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr2:36785621_36785622insT	ENST00000405912.3	-	6	937_938	c.938_939insA	c.(937-939)aacfs	p.N313fs	FEZ2_ENST00000379245.4_Frame_Shift_Ins_p.N340fs|FEZ2_ENST00000305852.7_Frame_Shift_Ins_p.N142fs|FEZ2_ENST00000487919.1_5'UTR	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	313					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				ACGGTGGTCCGTTTTTTTTCTC	0.317																																						uc002rph.2																			0				ovary(1)	1						c.(937-939)AACfs		zygin 2 isoform 1																																				SO:0001589	frameshift_variant	9637				axon guidance|signal transduction		protein binding	g.chr2:36785621_36785622insT	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.939dupA	2.37:g.36785629_36785629dupT	ENSP00000385112:p.Asn313fs					FEZ2_uc002rpe.2_Frame_Shift_Ins_p.N142fs|FEZ2_uc002rpf.2_Frame_Shift_Ins_p.N142fs|FEZ2_uc002rpg.2_Frame_Shift_Ins_p.N340fs|FEZ2_uc002rpi.2_Frame_Shift_Ins_p.N168fs|FEZ2_uc002rpj.2_Intron	p.N313fs	NM_005102	NP_005093	Q9UHY8	FEZ2_HUMAN			6	985_986	-		all_hematologic(82;0.21)	313					Q5EBN3|Q76LN0|Q99690	Frame_Shift_Ins	INS	ENST00000405912.3	37	c.938_939insA	CCDS46257.1																																																																																					0.317	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1			4	2	4	2	---	---	---	---
PITX2	5308	broad.mit.edu	37	4	111554138	111554138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr4:111554138delC	ENST00000354925.2	-	4	1722	c.17delG	c.(16-18)cgcfs	p.R6fs	PITX2_ENST00000394598.2_Frame_Shift_Del_p.R6fs|PITX2_ENST00000355080.5_Frame_Shift_Del_p.R6fs|PITX2_ENST00000394595.3_Frame_Shift_Del_p.R6fs	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	6					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CACCAGTTTGCGGCAGTTGGT	0.602																																						uc003iad.2																			0					0						c.(16-18)CGCfs		paired-like homeodomain transcription factor 2							134.0	134.0	134.0					4																	111554138		2203	4300	6503	SO:0001589	frameshift_variant	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	g.chr4:111554138delC	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.17delG	4.37:g.111554138delC	ENSP00000347004:p.Arg6fs					PITX2_uc003iae.2_Frame_Shift_Del_p.R6fs|PITX2_uc010iml.2_5'UTR|PITX2_uc003iaf.2_Frame_Shift_Del_p.R6fs	p.R6fs	NM_153426	NP_700475	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	2	599	-		Hepatocellular(203;0.217)	6					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Frame_Shift_Del	DEL	ENST00000354925.2	37	c.17delG	CCDS3692.1																																																																																					0.602	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			276	161	276	161	---	---	---	---
ZNF431	170959	broad.mit.edu	37	19	21366765	21366765	+	Frame_Shift_Del	DEL	A	A	-			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chr19:21366765delA	ENST00000311048.7	+	5	1803	c.1659delA	c.(1657-1659)tcafs	p.S553fs	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	553					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ACCAGTCCTCAAACCTTATTA	0.343																																						uc002npp.2																			0				central_nervous_system(2)	2						c.(1657-1659)TCAfs		zinc finger protein 431							57.0	63.0	61.0					19																	21366765		2202	4300	6502	SO:0001589	frameshift_variant	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366765delA	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1659delA	19.37:g.21366765delA	ENSP00000308578:p.Ser553fs					ZNF431_uc010ecq.2_Frame_Shift_Del_p.S462fs|ZNF431_uc010ecr.2_Frame_Shift_Del_p.S554fs	p.S553fs	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN			5	1806	+			553					A8KAK7|Q8IWC4	Frame_Shift_Del	DEL	ENST00000311048.7	37	c.1659delA	CCDS32979.1																																																																																					0.343	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		75	41	75	41	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107408661	107408662	+	Frame_Shift_Ins	INS	-	-	A			TCGA-66-2767-01A-01D-1522-08	TCGA-66-2767-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca748128-272c-4fad-9a1f-01328b93b3f4	68afa3dd-7970-4f7c-88fe-e20b259e1a7e	g.chrX:107408661_107408662insA	ENST00000372216.4	-	38	3849_3850	c.3749_3750insT	c.(3748-3750)ttgfs	p.L1250fs	COL4A6_ENST00000394872.2_Frame_Shift_Ins_p.L1250fs|COL4A6_ENST00000538570.1_Frame_Shift_Ins_p.L1225fs|COL4A6_ENST00000545689.1_Frame_Shift_Ins_p.L1225fs|COL4A6_ENST00000334504.7_Frame_Shift_Ins_p.L1249fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1250	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGAGTGAGGGCAAGGAGATGCC	0.589									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(3748-3750)TTGfs		type IV alpha 6 collagen isoform A precursor																																				SO:0001589	frameshift_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107408661_107408662insA	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3750dupT	X.37:g.107408663_107408663dupA	ENSP00000361290:p.Leu1250fs					COL4A6_uc004env.3_Frame_Shift_Ins_p.L1249fs|COL4A6_uc011msn.1_Frame_Shift_Ins_p.L1225fs|COL4A6_uc010npk.2_Frame_Shift_Ins_p.L1225fs|COL4A6_uc010npj.2_5'Flank	p.L1250fs	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			38	3852_3853	-			1250			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Ins	INS	ENST00000372216.4	37	c.3749_3750insT	CCDS14541.1																																																																																					0.589	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			69	44	69	44	---	---	---	---
