#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
PRDM16	63976	broad.mit.edu	37	1	3322187	3322187	+	Silent	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:3322187C>A	ENST00000270722.5	+	8	1210	c.1161C>A	c.(1159-1161)atC>atA	p.I387I	PRDM16_ENST00000378391.2_Silent_p.I387I|PRDM16_ENST00000378398.3_Silent_p.I388I|PRDM16_ENST00000514189.1_Silent_p.I388I|PRDM16_ENST00000441472.2_Silent_p.I387I|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.I387I|PRDM16_ENST00000511072.1_Silent_p.I388I			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	387					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.I387I(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACAAGCATATCCACAGCACGG	0.697			T	EVI1	"""MDS, AML"""																																	uc001akf.2				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1159-1161)ATC>ATA		PR domain containing 16 isoform 1							57.0	65.0	62.0					1																	3322187		2198	4292	6490	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3322187C>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1161C>A	1.37:g.3322187C>A						PRDM16_uc001akc.2_Silent_p.I387I|PRDM16_uc001akd.2_Silent_p.I387I|PRDM16_uc001ake.2_Silent_p.I387I|PRDM16_uc009vlh.2_Silent_p.I88I	p.I387I	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	8	1241	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	387			C2H2-type 5.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.1161C>A	CCDS41236.2																																																																																				PASS	0.697	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		34	41	34	41	---	---	---	---
PRDM16	63976	broad.mit.edu	37	1	3342715	3342715	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:3342715C>G	ENST00000270722.5	+	14	3259	c.3210C>G	c.(3208-3210)gaC>gaG	p.D1070E	PRDM16_ENST00000378391.2_Missense_Mutation_p.D1070E|PRDM16_ENST00000378398.3_Missense_Mutation_p.D1070E|PRDM16_ENST00000514189.1_Missense_Mutation_p.D1070E|PRDM16_ENST00000441472.2_Missense_Mutation_p.D1069E|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.D1069E|PRDM16_ENST00000511072.1_Missense_Mutation_p.D1071E			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1070	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.D1069E(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGAAAGAAGACTCTTATTTCT	0.522			T	EVI1	"""MDS, AML"""																																	uc001akf.2				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(3208-3210)GAC>GAG		PR domain containing 16 isoform 1							91.0	101.0	98.0					1																	3342715		1967	4141	6108	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3342715C>G	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3210C>G	1.37:g.3342715C>G	ENSP00000270722:p.Asp1070Glu					PRDM16_uc001akc.2_Missense_Mutation_p.D1069E|PRDM16_uc001akd.2_Missense_Mutation_p.D1069E|PRDM16_uc001ake.2_Missense_Mutation_p.D1070E|PRDM16_uc009vlh.2_Missense_Mutation_p.D770E	p.D1070E	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	14	3290	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	1070			Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.3210C>G	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736658	0.30774	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06068	3.38;3.39;3.4;3.4;3.38;3.4;3.4;3.35;3.35	4.48	2.56	0.30785	.	0.000000	0.52532	D	0.000067	T	0.14657	0.0354	L	0.52266	1.64	0.47994	D	0.999563	D;P;D;P	0.76494	0.999;0.808;0.983;0.709	D;P;D;P	0.78314	0.991;0.825;0.95;0.672	T	0.03524	-1.1028	10	0.30854	T	0.27	.	7.9193	0.29837	0.0:0.6394:0.0:0.3606	.	1070;1070;1069;1069	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	E	1071;1070;1069;1069;1070;1070;1070;886;886;878	ENSP00000426975:D1071E;ENSP00000367651:D1070E;ENSP00000407968:D1069E;ENSP00000405253:D1069E;ENSP00000367643:D1070E;ENSP00000421400:D1070E;ENSP00000270722:D1070E;ENSP00000422504:D886E;ENSP00000425796:D878E	ENSP00000270722:D1070E	D	+	3	2	PRDM16	3332575	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	1.974000	0.40559	0.875000	0.35847	0.462000	0.41574	GAC		PASS	0.522	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		4	62	4	62	---	---	---	---
ESPN	83715	broad.mit.edu	37	1	6512037	6512037	+	Missense_Mutation	SNP	G	G	T	rs375388717		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:6512037G>T	ENST00000377828.1	+	10	2374	c.2206G>T	c.(2206-2208)Gtg>Ttg	p.V736L	ESPN_ENST00000416731.1_Missense_Mutation_p.V170L|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Missense_Mutation_p.V170L	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	736					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)	p.V736L(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGCTGGACGTGGAGGCTCT	0.667																																						uc001amy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2206-2208)GTG>TTG		espin							23.0	24.0	24.0					1																	6512037		2202	4300	6502	SO:0001583	missense	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6512037G>T	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2206G>T	1.37:g.6512037G>T	ENSP00000367059:p.Val736Leu					ESPN_uc001amz.2_Missense_Mutation_p.V170L	p.V736L	NM_031475	NP_113663	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	10	2374	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	736					Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	c.2206G>T	CCDS70.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.053509|3.053509	0.55218|0.55218	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000434576|ENST00000377828;ENST00000416731	.|T;D	.|0.83755	.|-0.34;-1.76	5.14|5.14	4.22|4.22	0.49857|0.49857	.|.	.|0.136337	.|0.49916	.|D	.|0.000136	D|D	0.85318|0.85318	0.5669|0.5669	L|L	0.45137|0.45137	1.4|1.4	0.45607|0.45607	D|D	0.998542|0.998542	.|D;D	.|0.65815	.|0.966;0.995	.|P;P	.|0.62184	.|0.546;0.899	D|D	0.86078|0.86078	0.1542|0.1542	5|10	.|0.66056	.|D	.|0.02	-26.1549|-26.1549	11.7842|11.7842	0.52032|0.52032	0.0862:0.0:0.9138:0.0|0.0862:0.0:0.9138:0.0	.|.	.|170;736	.|B1AK53-2;B1AK53	.|.;ESPN_HUMAN	L|L	79|736;170	.|ENSP00000367059:V736L;ENSP00000399239:V170L	.|ENSP00000367059:V736L	R|V	+|+	2|1	0|0	ESPN|ESPN	6434624|6434624	0.996000|0.996000	0.38824|0.38824	0.951000|0.951000	0.38953|0.38953	0.660000|0.660000	0.38997|0.38997	2.281000|2.281000	0.43452|0.43452	2.399000|2.399000	0.81585|0.81585	0.491000|0.491000	0.48974|0.48974	CGT|GTG		PASS	0.667	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		7	7	7	7	---	---	---	---
FUCA1	2517	broad.mit.edu	37	1	24189745	24189745	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:24189745G>C	ENST00000374479.3	-	3	548	c.541C>G	c.(541-543)Cta>Gta	p.L181V		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	181					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)	p.L181V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GAGTGGTATAGTCCATAGCGG	0.343																																						uc001bie.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(541-543)CTA>GTA		fucosidase, alpha-L-1, tissue precursor							93.0	87.0	89.0					1																	24189745		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24189745G>C	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.541C>G	1.37:g.24189745G>C	ENSP00000363603:p.Leu181Val					FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA	p.L181V	NM_000147	NP_000138	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	3	586	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	181					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.541C>G	CCDS244.2	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737783	0.30774	.	.	ENSG00000179163	ENST00000374479	T	0.56275	0.47	5.43	5.43	0.79202	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.057209	0.64402	D	0.000001	T	0.57844	0.2081	L	0.50333	1.59	0.58432	D	0.999998	P	0.41214	0.742	P	0.50049	0.629	T	0.56577	-0.7956	10	0.49607	T	0.09	-16.6342	12.7171	0.57121	0.0746:0.0:0.9254:0.0	.	181	P04066	FUCO_HUMAN	V	181	ENSP00000363603:L181V	ENSP00000363603:L181V	L	-	1	2	FUCA1	24062332	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	5.046000	0.64226	2.823000	0.97156	0.650000	0.86243	CTA		PASS	0.343	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		5	26	5	26	---	---	---	---
IL22RA1	58985	broad.mit.edu	37	1	24460774	24460774	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:24460774C>A	ENST00000270800.1	-	4	496	c.458G>T	c.(457-459)cGg>cTg	p.R153L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	153	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)	p.R153L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAGGGTTAGCCGGTGGCCATC	0.522																																						uc001biq.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(457-459)CGG>CTG		interleukin 22 receptor, alpha 1 precursor							112.0	95.0	101.0					1																	24460774		2203	4300	6503	SO:0001583	missense	58985					integral to membrane	interferon receptor activity	g.chr1:24460774C>A	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.458G>T	1.37:g.24460774C>A	ENSP00000270800:p.Arg153Leu					IL22RA1_uc010oeg.1_Missense_Mutation_p.R45L|IL22RA1_uc009vrb.1_Missense_Mutation_p.R17L|IL22RA1_uc010oeh.1_Missense_Mutation_p.R153L	p.R153L	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	4	497	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	153			Extracellular (Potential).|Fibronectin type-III 2.		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	c.458G>T	CCDS247.1	.	.	.	.	.	.	.	.	.	.	C	2.775	-0.254908	0.05829	.	.	ENSG00000142677	ENST00000270800	T	0.39406	1.08	4.98	-9.97	0.00440	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.278620	0.05486	N	0.555755	T	0.21347	0.0514	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.008	T	0.22173	-1.0224	10	0.09338	T	0.73	-10.7396	9.9978	0.41909	0.0:0.1081:0.1068:0.785	.	45;153	B4E2V9;Q8N6P7	.;I22R1_HUMAN	L	153	ENSP00000270800:R153L	ENSP00000270800:R153L	R	-	2	0	IL22RA1	24333361	0.001000	0.12720	0.007000	0.13788	0.001000	0.01503	-2.265000	0.01172	-1.682000	0.01446	-2.320000	0.00252	CGG		PASS	0.522	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			23	14	23	14	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39801940	39801940	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:39801940C>T	ENST00000372915.3	+	36	9782	c.9695C>T	c.(9694-9696)tCt>tTt	p.S3232F	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1667F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S3264F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.S3227F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3232					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S1667F(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTCTCAAATCTGAAATAGCA	0.398																																						uc010oiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4999-5001)TCT>TTT		microfilament and actin filament cross-linker							70.0	71.0	71.0					1																	39801940		2202	4300	6502	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801940C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9695C>T	1.37:g.39801940C>T	ENSP00000362006:p.Ser3232Phe					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.S1667F	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	5131	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3232					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.5000C>T		.	.	.	.	.	.	.	.	.	.	C	3.560	-0.089798	0.07053	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.70282	-0.47;0.46	5.1	3.08	0.35506	.	1.315740	0.05298	N	0.522379	T	0.64294	0.2585	N	0.24115	0.695	0.20196	N	0.999926	B	0.32425	0.371	B	0.39119	0.291	T	0.58808	-0.7571	10	0.66056	D	0.02	.	9.5255	0.39162	0.1598:0.6854:0.1548:0.0	.	3232	Q9UPN3	MACF1_HUMAN	F	3232;1667	ENSP00000362006:S3232F;ENSP00000289893:S1667F	ENSP00000289893:S1667F	S	+	2	0	MACF1	39574527	0.015000	0.18098	0.387000	0.26183	0.265000	0.26407	1.398000	0.34554	1.138000	0.42230	0.563000	0.77884	TCT		PASS	0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	21	18	21	---	---	---	---
RAB3B	5865	broad.mit.edu	37	1	52399038	52399038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:52399038C>A	ENST00000371655.3	-	4	636	c.424G>T	c.(424-426)Gag>Tag	p.E142*		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	142					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.E142*(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						ACAACCCTCTCTTCCTCCATG	0.463																																						uc001cth.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(424-426)GAG>TAG		RAB3B, member RAS oncogene family							190.0	147.0	162.0					1																	52399038		2203	4300	6503	SO:0001587	stop_gained	5865				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:52399038C>A	BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"""RAB, member RAS oncogene"""	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.424G>T	1.37:g.52399038C>A	ENSP00000360718:p.Glu142*						p.E142*	NM_002867	NP_002858	P20337	RAB3B_HUMAN			4	549	-			142					Q5VUL2|Q9BSI1	Nonsense_Mutation	SNP	ENST00000371655.3	37	c.424G>T	CCDS560.1	.	.	.	.	.	.	.	.	.	.	C	37	6.578371	0.97680	.	.	ENSG00000169213	ENST00000371655;ENST00000537650	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.2576	18.4044	0.90529	0.0:1.0:0.0:0.0	.	.	.	.	X	142	.	ENSP00000360718:E142X	E	-	1	0	RAB3B	52171626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.395000	0.79876	2.692000	0.91855	0.655000	0.94253	GAG		PASS	0.463	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1	NM_002867		26	35	26	35	---	---	---	---
ANKRD13C	81573	broad.mit.edu	37	1	70790558	70790558	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:70790558G>C	ENST00000370944.4	-	3	868	c.555C>G	c.(553-555)atC>atG	p.I185M	ANKRD13C_ENST00000262346.6_Intron	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	185					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.I185M(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CTCCATAGCTGATGGCTTCCG	0.378																																						uc001dex.3																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)ATC>ATG		ankyrin repeat domain 13C							93.0	90.0	91.0					1																	70790558		2203	4300	6503	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70790558G>C		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.555C>G	1.37:g.70790558G>C	ENSP00000359982:p.Ile185Met					ANKRD13C_uc009wbk.2_Intron	p.I185M	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN			3	881	-			185			ANK 3.		B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.555C>G	CCDS648.2	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765856	0.69878	.	.	ENSG00000118454	ENST00000370944	T	0.68025	-0.3	5.17	4.26	0.50523	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	L	0.39692	1.235	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73075	-0.4097	10	0.87932	D	0	.	13.4149	0.60963	0.0763:0.0:0.9237:0.0	.	185	Q8N6S4	AN13C_HUMAN	M	185	ENSP00000359982:I185M	ENSP00000359982:I185M	I	-	3	3	ANKRD13C	70563146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.440000	0.59975	1.313000	0.45069	0.650000	0.86243	ATC		PASS	0.378	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		5	85	5	85	---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84348776	84348776	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:84348776T>A	ENST00000260505.8	-	20	2790	c.2413A>T	c.(2413-2415)Act>Tct	p.T805S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	805					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.T805S(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGCAAAGGAGTCACCACCTCC	0.453																																						uc001djc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2413-2415)ACT>TCT		tubulin tyrosine ligase-like family, member 7							106.0	107.0	106.0					1																	84348776		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84348776T>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2413A>T	1.37:g.84348776T>A	ENSP00000260505:p.Thr805Ser					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	p.T805S	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	20	2809	-			805					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.2413A>T	CCDS690.2	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801502	0.31869	.	.	ENSG00000137941	ENST00000260505	T	0.03065	4.06	5.65	4.49	0.54785	.	0.302038	0.35235	N	0.003357	T	0.01156	0.0038	L	0.29908	0.895	0.32281	N	0.567536	B	0.02656	0.0	B	0.06405	0.002	T	0.47724	-0.9095	10	0.25106	T	0.35	.	11.5412	0.50667	0.1486:0.0:0.0:0.8514	.	805	Q6ZT98	TTLL7_HUMAN	S	805	ENSP00000260505:T805S	ENSP00000260505:T805S	T	-	1	0	TTLL7	84121364	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	4.948000	0.63590	0.906000	0.36621	0.528000	0.53228	ACT		PASS	0.453	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		41	48	41	48	---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84417877	84417877	+	Silent	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:84417877T>C	ENST00000260505.8	-	2	395	c.18A>G	c.(16-18)caA>caG	p.Q6Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	6					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.Q6Q(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TACCTCCTTCTTGAGGCAGAG	0.363																																						uc001djc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(16-18)CAA>CAG		tubulin tyrosine ligase-like family, member 7							92.0	87.0	89.0					1																	84417877		2203	4300	6503	SO:0001819	synonymous_variant	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84417877T>C	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.18A>G	1.37:g.84417877T>C						TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	p.Q6Q	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	2	414	-			6					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Silent	SNP	ENST00000260505.8	37	c.18A>G	CCDS690.2																																																																																				PASS	0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		27	25	27	25	---	---	---	---
CCBL2	56267	broad.mit.edu	37	1	89414823	89414823	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:89414823G>A	ENST00000260508.4	-	11	1429	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	CCBL2_ENST00000370491.3_Silent_p.P330P|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	364					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.P364P(1)|p.P330P(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		CAGGAACTATGGGTTTTAGGC	0.368																																						uc001dmp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1090-1092)CCC>CCT		kynurenine aminotransferase III isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						121.0	111.0	114.0					1																	89414823		2203	4300	6503	SO:0001819	synonymous_variant	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89414823G>A	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1092C>T	1.37:g.89414823G>A						CCBL2_uc001dmq.2_Silent_p.P330P|CCBL2_uc001dmr.2_Silent_p.P200P	p.P364P	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	11	1469	-		Lung NSC(277;0.123)	364					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Silent	SNP	ENST00000260508.4	37	c.1092C>T	CCDS30766.1																																																																																				PASS	0.368	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		29	16	29	16	---	---	---	---
MTF2	22823	broad.mit.edu	37	1	93599277	93599277	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:93599277T>C	ENST00000370298.4	+	12	1467	c.1178T>C	c.(1177-1179)aTa>aCa	p.I393T	MTF2_ENST00000370303.4_Missense_Mutation_p.I336T|MTF2_ENST00000540243.1_Missense_Mutation_p.I291T|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Missense_Mutation_p.I291T	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	393					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.I393T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AGCAATGGCATAGAAAAAAAA	0.343																																						uc009wdj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1177-1179)ATA>ACA		metal response element binding transcription							59.0	63.0	62.0					1																	93599277		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93599277T>C	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1178T>C	1.37:g.93599277T>C	ENSP00000359321:p.Ile393Thr					MTF2_uc010oth.1_Missense_Mutation_p.I291T|MTF2_uc009wdk.2_Missense_Mutation_p.I336T|MTF2_uc001dpi.3_Missense_Mutation_p.I120T|MTF2_uc010oti.1_Missense_Mutation_p.I291T|MTF2_uc001dpj.3_Missense_Mutation_p.I291T|MTF2_uc001dpl.3_Missense_Mutation_p.I291T|MTF2_uc001dpm.3_Missense_Mutation_p.I62T	p.I393T	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	12	1470	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	393					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.1178T>C	CCDS742.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096351	0.36952	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	T;T;T;T	0.29397	1.57;1.57;1.98;2.02	5.24	5.24	0.73138	.	0.373408	0.33732	N	0.004608	T	0.07818	0.0196	N	0.19112	0.55	0.35955	D	0.834194	B;B;B	0.16166	0.016;0.0;0.0	B;B;B	0.12156	0.007;0.002;0.0	T	0.17018	-1.0383	10	0.14252	T	0.57	-1.4472	10.6568	0.45680	0.1428:0.0:0.0:0.8572	.	336;393;291	B1AKT6;Q9Y483;B4DZG1	.;MTF2_HUMAN;.	T	291;291;393;336	ENSP00000444962:I291T;ENSP00000443295:I291T;ENSP00000359321:I393T;ENSP00000359326:I336T	ENSP00000359321:I393T	I	+	2	0	MTF2	93371865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.500000	0.53318	2.114000	0.64651	0.533000	0.62120	ATA		PASS	0.343	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		17	26	17	26	---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114641783	114641783	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:114641783T>C	ENST00000610222.1	-	5	1443	c.1297A>G	c.(1297-1299)Atc>Gtc	p.I433V	SYT6_ENST00000609117.1_Missense_Mutation_p.I348V|SYT6_ENST00000607941.1_Missense_Mutation_p.I348V|SYT6_ENST00000393296.1_Missense_Mutation_p.I433V|SYT6_ENST00000369547.1_Missense_Mutation_p.I348V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	433	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.I348V(1)|p.I348F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTCAAAGATGATGGCCTCA	0.463																																						uc001eev.2																			2	Substitution - Missense(2)		ovary(1)|lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1042-1044)ATC>GTC		synaptotagmin VI							288.0	224.0	246.0					1																	114641783		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114641783T>C		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1297A>G	1.37:g.114641783T>C	ENSP00000476396:p.Ile433Val					SYT6_uc001eeu.2_5'UTR	p.I348V	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1292	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	433			Cytoplasmic (Potential).|C2 2.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.1042A>G		.	.	.	.	.	.	.	.	.	.	T	4.560	0.103997	0.08731	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.77	5.77	0.91146	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	N	0.00729	-1.24	0.58432	D	0.999999	B	0.16166	0.016	B	0.25291	0.059	T	0.39722	-0.9600	10	0.02654	T	1	.	16.0879	0.81070	0.0:0.0:0.0:1.0	.	433	Q5T7P8	SYT6_HUMAN	V	348;433;348;433	ENSP00000358560:I348V;ENSP00000376974:I433V;ENSP00000358559:I348V;ENSP00000358558:I433V	ENSP00000358558:I433V	I	-	1	0	SYT6	114443306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.276000	0.72601	2.199000	0.70637	0.533000	0.62120	ATC		PASS	0.463	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		64	110	64	110	---	---	---	---
ZNF687	57592	broad.mit.edu	37	1	151260589	151260589	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:151260589G>T	ENST00000368879.2	+	2	1920	c.1822G>T	c.(1822-1824)Gtg>Ttg	p.V608L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V608L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGACCAGATGGTGGGGCAGCC	0.612																																						uc001exq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1822-1824)GTG>TTG		zinc finger protein 687							69.0	59.0	63.0					1																	151260589		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151260589G>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1822G>T	1.37:g.151260589G>T	ENSP00000357874:p.Val608Leu					ZNF687_uc001exp.1_Missense_Mutation_p.V617L|ZNF687_uc009wmo.2_Missense_Mutation_p.V608L|ZNF687_uc009wmp.2_Missense_Mutation_p.V608L	p.V608L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1920	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		608					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1822G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.492128|3.492128	0.64074|0.64074	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|.	0.23754|.	1.89;1.89;1.89|.	5.12|5.12	4.21|4.21	0.49690|0.49690	.|.	0.000000|.	0.32161|.	N|.	0.006499|.	T|T	0.30792|0.30792	0.0776|0.0776	L|L	0.38531|0.38531	1.155|1.155	0.43444|0.43444	D|D	0.995628|0.995628	P;B;P|.	0.43885|.	0.82;0.11;0.82|.	P;B;P|.	0.45099|.	0.469;0.064;0.469|.	T|T	0.15009|0.15009	-1.0452|-1.0452	10|5	0.25106|.	T|.	0.35|.	.|.	6.8301|6.8301	0.23905|0.23905	0.2603:0.0:0.7397:0.0|0.2603:0.0:0.7397:0.0	.|.	608;608;608|.	Q8N1G0-2;Q8N1G0;F8WCX2|.	.;ZN687_HUMAN;.|.	L|C	608|210	ENSP00000336620:V608L;ENSP00000319829:V608L;ENSP00000357874:V608L|.	ENSP00000319829:V608L|.	V|W	+|+	1|3	0|0	ZNF687|ZNF687	149527213|149527213	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.061000|6.061000	0.71148|0.71148	1.389000|1.389000	0.46526|0.46526	0.561000|0.561000	0.74099|0.74099	GTG|TGG		PASS	0.612	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		4	79	4	79	---	---	---	---
IL6R	3570	broad.mit.edu	37	1	154427045	154427045	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:154427045C>T	ENST00000368485.3	+	9	1585	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Intron	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	383					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.A383V(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CTCTGCATTGCCATTGTTCTG	0.468																																						uc001fez.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1147-1149)GCC>GTC		interleukin 6 receptor isoform 1 precursor							109.0	94.0	99.0					1																	154427045		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154427045C>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1148C>T	1.37:g.154427045C>T	ENSP00000357470:p.Ala383Val					IL6R_uc001ffa.1_Intron	p.A383V	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		9	1585	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		383			Helical; (Potential).		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.1148C>T	CCDS1067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.95|10.95	1.496809|1.496809	0.26861|0.26861	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000368485|ENST00000515190	T|.	0.23754|.	1.89|.	4.23|4.23	2.27|2.27	0.28462|0.28462	.|.	1.283680|.	0.05207|.	N|.	0.506074|.	T|T	0.14743|0.14743	0.0356|0.0356	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B|.	0.22346|.	0.068|.	B|.	0.15870|.	0.014|.	T|T	0.25222|0.25222	-1.0138|-1.0138	10|5	0.42905|.	T|.	0.14|.	-14.3486|-14.3486	6.357|6.357	0.21406|0.21406	0.0:0.2069:0.5837:0.2094|0.0:0.2069:0.5837:0.2094	.|.	383|.	P08887|.	IL6RA_HUMAN|.	V|S	383|186	ENSP00000357470:A383V|.	ENSP00000357470:A383V|.	A|P	+|+	2|1	0|0	IL6R|IL6R	152693669|152693669	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.010000|0.010000	0.07245|0.07245	0.245000|0.245000	0.18142|0.18142	0.384000|0.384000	0.24942|0.24942	-0.321000|-0.321000	0.08615|0.08615	GCC|CCA		PASS	0.468	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		6	43	6	43	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158585049	158585049	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:158585049C>A	ENST00000368147.4	-	48	6925	c.6745G>T	c.(6745-6747)Ggg>Tgg	p.G2249W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2249					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.G2249W(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)					ATCCGCAACCCAAGCTGGTAG	0.542																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6745-6747)GGG>TGG		spectrin, alpha, erythrocytic 1							151.0	158.0	155.0					1																	158585049		2119	4247	6366	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.chr1:158585049C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6745G>T	1.37:g.158585049C>A	ENSP00000357129:p.Gly2249Trp						p.G2249W	NM_003126	NP_003117	P02549	SPTA1_HUMAN			48	6944	-	all_hematologic(112;0.0378)		2249			Spectrin 21.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6745G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883061	0.72410	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	0.8;0.8	5.54	5.54	0.83059	.	0.000000	0.32836	N	0.005592	T	0.64735	0.2625	M	0.81497	2.545	0.51233	D	0.999916	D	0.89917	1.0	D	0.97110	1.0	T	0.59236	-0.7492	10	0.29301	T	0.29	.	18.234	0.89944	0.0:1.0:0.0:0.0	.	2249	P02549	SPTA1_HUMAN	W	2249;2246	ENSP00000357130:G2249W;ENSP00000357129:G2246W	ENSP00000357129:G2246W	G	-	1	0	SPTA1	156851673	1.000000	0.71417	0.854000	0.33618	0.413000	0.31143	7.104000	0.77024	2.884000	0.98904	0.655000	0.94253	GGG		PASS	0.542	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		79	152	79	152	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158609783	158609783	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:158609783C>G	ENST00000368147.4	-	34	4932	c.4752G>C	c.(4750-4752)caG>caC	p.Q1584H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1584					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.Q1584H(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)					GTTCCTTCAGCTGTTCCAGTT	0.483																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4750-4752)CAG>CAC		spectrin, alpha, erythrocytic 1							167.0	151.0	156.0					1																	158609783		1941	4144	6085	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.chr1:158609783C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4752G>C	1.37:g.158609783C>G	ENSP00000357129:p.Gln1584His						p.Q1584H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			34	4951	-	all_hematologic(112;0.0378)		1584			Spectrin 15.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4752G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479323	0.26511	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49720	1.28;0.77	5.53	-2.59	0.06209	.	1.270610	0.06120	N	0.668761	T	0.17789	0.0427	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41592	-0.9500	10	0.51188	T	0.08	.	7.2125	0.25941	0.0:0.2807:0.4408:0.2784	.	1584	P02549	SPTA1_HUMAN	H	1584	ENSP00000357130:Q1584H;ENSP00000357129:Q1584H	ENSP00000357129:Q1584H	Q	-	3	2	SPTA1	156876407	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.328000	0.02680	-0.337000	0.08426	0.655000	0.94253	CAG		PASS	0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		42	96	42	96	---	---	---	---
OR6N2	81442	broad.mit.edu	37	1	158746513	158746513	+	Missense_Mutation	SNP	T	T	C	rs140258151		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:158746513T>C	ENST00000339258.1	-	1	912	c.913A>G	c.(913-915)Atc>Gtc	p.I305V		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I305V(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTCTGGAAGATGGTCCTCTTG	0.383																																						uc010pir.1																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)ATC>GTC		olfactory receptor, family 6, subfamily N,		T	VAL/ILE	0,4406		0,0,2203	168.0	161.0	163.0		913	0.2	0.9	1	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6N2	NM_001005278.1	29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	305/318	158746513	1,13005	2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746513T>C	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.913A>G	1.37:g.158746513T>C	ENSP00000344101:p.Ile305Val						p.I305V	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	913	-	all_hematologic(112;0.0378)		305			Cytoplasmic (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.913A>G	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	T	3.238	-0.155899	0.06544	0.0	1.16E-4	ENSG00000188340	ENST00000339258	T	0.37752	1.18	4.14	0.215	0.15253	.	.	.	.	.	T	0.05823	0.0152	N	0.13043	0.29	0.20703	N	0.999863	B	0.02656	0.0	B	0.01281	0.0	T	0.35649	-0.9780	9	0.42905	T	0.14	-10.4439	1.4417	0.02356	0.1806:0.1015:0.1734:0.5445	.	305	Q8NGY6	OR6N2_HUMAN	V	305	ENSP00000344101:I305V	ENSP00000344101:I305V	I	-	1	0	OR6N2	157013137	0.000000	0.05858	0.907000	0.35723	0.017000	0.09413	-1.088000	0.03379	-0.141000	0.11374	0.377000	0.23210	ATC		PASS	0.383	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			5	134	5	134	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167097663	167097663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:167097663G>T	ENST00000361200.2	+	6	3461	c.3295G>T	c.(3295-3297)Gga>Tga	p.G1099*	DUSP27_ENST00000443333.1_Nonsense_Mutation_p.G1099*|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.G1099*|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1099					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G1099*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAAGAAGAGGGAGAGAAAGA	0.498																																						uc001geb.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(3295-3297)GGA>TGA		dual specificity phosphatase 27							40.0	37.0	38.0					1																	167097663		2203	4300	6503	SO:0001587	stop_gained	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097663G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3295G>T	1.37:g.167097663G>T	ENSP00000354483:p.Gly1099*						p.G1099*	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3295	+			1099					A0AUM4|Q9C074	Nonsense_Mutation	SNP	ENST00000361200.2	37	c.3295G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	42	9.463418	0.99178	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.4	5.4	0.78164	.	0.000000	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.0843	19.1783	0.93612	0.0:0.0:1.0:0.0	.	.	.	.	X	1099	.	ENSP00000271385:G1099X	G	+	1	0	DUSP27	165364287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.171000	0.58236	2.532000	0.85374	0.549000	0.68633	GGA		PASS	0.498	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		18	42	18	42	---	---	---	---
ZNF648	127665	broad.mit.edu	37	1	182026397	182026397	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:182026397T>C	ENST00000339948.3	-	2	956	c.749A>G	c.(748-750)tAc>tGc	p.Y250C		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	250					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.Y250C(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CAGGCACCTGTAGGGACGCGC	0.731																																					NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(748-750)TAC>TGC		zinc finger protein 648							9.0	10.0	9.0					1																	182026397		2182	4246	6428	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026397T>C	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.749A>G	1.37:g.182026397T>C	ENSP00000344129:p.Tyr250Cys						p.Y250C	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	957	-			250					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.749A>G	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.370944	0.42003	.	.	ENSG00000179930	ENST00000339948	T	0.07567	3.18	2.77	1.65	0.23941	.	.	.	.	.	T	0.22820	0.0551	M	0.86178	2.8	0.09310	N	1	D	0.64830	0.994	P	0.59643	0.861	T	0.07868	-1.0750	9	0.87932	D	0	.	4.3768	0.11274	0.0:0.1588:0.0:0.8412	.	250	Q5T619	ZN648_HUMAN	C	250	ENSP00000344129:Y250C	ENSP00000344129:Y250C	Y	-	2	0	ZNF648	180293020	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.262000	0.18460	0.482000	0.27582	0.533000	0.62120	TAC		PASS	0.731	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		4	7	4	7	---	---	---	---
COLGALT2	23127	broad.mit.edu	37	1	183933096	183933096	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:183933096C>T	ENST00000361927.4	-	6	1262	c.891G>A	c.(889-891)aaG>aaA	p.K297K	COLGALT2_ENST00000367520.3_Silent_p.K34K|COLGALT2_ENST00000546159.1_Silent_p.K297K	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	297					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.K297K(1)									TCTGATGGGGCTTCAGGGGGA	0.527																																						uc001gqr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(889-891)AAG>AAA		glycosyltransferase 25 domain containing 2							160.0	124.0	136.0					1																	183933096		2203	4300	6503	SO:0001819	synonymous_variant	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183933096C>T	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.891G>A	1.37:g.183933096C>T						GLT25D2_uc010poj.1_Silent_p.K297K|GLT25D2_uc001gqq.2_Silent_p.K34K|GLT25D2_uc001gqs.2_Silent_p.K177K	p.K297K	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			6	1263	-			297					O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.891G>A	CCDS1360.1																																																																																				PASS	0.527	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		6	90	6	90	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196883696	196883696	+	Intron	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:196883696A>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.T171S|CFHR4_ENST00000367416.2_Missense_Mutation_p.T417S|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Missense_Mutation_p.T171S			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.T171S(1)|p.T417S(1)		large_intestine(2)|ovary(1)|skin(3)	6						GCTCCATGACACATTGGACTA	0.408																																						uc001gto.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(511-513)ACA>TCA		complement factor H-related 4 precursor							128.0	116.0	120.0					1																	196883696		1943	4158	6101	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196883696A>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34889A>T	1.37:g.196883696A>T						CFHR4_uc009wyy.2_Missense_Mutation_p.T417S|CFHR4_uc001gtp.2_Missense_Mutation_p.T418S	p.T171S	NM_006684	NP_006675	Q92496	FHR4_HUMAN			4	580	+			171			Sushi 3.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.511A>T		.	.	.	.	.	.	.	.	.	.	A	9.779	1.174718	0.21704	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.63417	-0.04;-0.04;-0.04	3.53	-0.877	0.10621	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.65144	0.2663	L	0.49571	1.57	0.09310	N	1	P;D;D	0.76494	0.94;0.999;0.959	P;D;P	0.70487	0.497;0.969;0.675	T	0.56703	-0.7935	9	0.07175	T	0.84	.	9.1476	0.36942	0.409:0.591:0.0:0.0	.	417;418;171	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	S	417;171;171;171	ENSP00000356386:T417S;ENSP00000356388:T171S;ENSP00000251424:T171S	ENSP00000251424:T171S	T	+	1	0	CFHR4	195150319	0.151000	0.22747	0.018000	0.16275	0.168000	0.22595	0.285000	0.18883	-0.264000	0.09365	0.333000	0.21579	ACA		PASS	0.408	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		32	62	32	62	---	---	---	---
NR5A2	2494	broad.mit.edu	37	1	200143295	200143295	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:200143295A>G	ENST00000367362.3	+	8	1829	c.1583A>G	c.(1582-1584)tAt>tGt	p.Y528C	NR5A2_ENST00000236914.3_Missense_Mutation_p.Y482C|NR5A2_ENST00000544748.1_Missense_Mutation_p.Y456C	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	528					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Y528C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GATGTGCCCTATAATAACCTT	0.458																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1582-1584)TAT>TGT		nuclear receptor subfamily 5, group A, member 2							53.0	50.0	51.0					1																	200143295		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200143295A>G	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1583A>G	1.37:g.200143295A>G	ENSP00000356331:p.Tyr528Cys					NR5A2_uc001gvc.2_Missense_Mutation_p.Y482C|NR5A2_uc009wzh.2_Missense_Mutation_p.Y488C|NR5A2_uc010pph.1_Missense_Mutation_p.Y456C	p.Y528C	NM_205860	NP_995582	O00482	NR5A2_HUMAN			8	1789	+	Prostate(682;0.19)		528					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.1583A>G	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	A	3.756	-0.050654	0.07407	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	T;T;T	0.51071	0.72;0.72;0.72	5.95	4.82	0.62117	Nuclear hormone receptor, ligand-binding (2);	0.046860	0.85682	D	0.000000	T	0.10035	0.0246	N	0.00151	-1.98	0.47905	D	0.999543	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25187	-1.0139	9	.	.	.	.	3.4177	0.07381	0.6848:0.0:0.3152:0.0	.	482;528	F1D8R9;O00482	.;NR5A2_HUMAN	C	528;482;456	ENSP00000356331:Y528C;ENSP00000236914:Y482C;ENSP00000439116:Y456C	.	Y	+	2	0	NR5A2	198409918	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	7.801000	0.85960	2.272000	0.75746	0.460000	0.39030	TAT		PASS	0.458	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			25	44	25	44	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216373167	216373167	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:216373167C>A	ENST00000307340.3	-	17	3999	c.3613G>T	c.(3613-3615)Gct>Tct	p.A1205S	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.A1205S|USH2A_ENST00000366943.2_Missense_Mutation_p.A1205S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1205	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A1205S(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)		CAGATGGTAGCTGAGGTTTCA	0.473										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.(3613-3615)GCT>TCT		usherin isoform B							99.0	103.0	102.0					1																	216373167		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.chr1:216373167C>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.3613G>T	1.37:g.216373167C>A	ENSP00000305941:p.Ala1205Ser	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.A1205S	p.A1205S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	17	4000	-			1205			Extracellular (Potential).|Fibronectin type-III 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3613G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573734	0.65765	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.59083	0.29;0.29;0.29	5.87	3.03	0.35002	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.314076	0.22451	N	0.059898	T	0.63827	0.2544	M	0.74881	2.28	0.42075	D	0.991224	P;P	0.44521	0.837;0.698	P;P	0.49999	0.628;0.492	T	0.60762	-0.7199	10	0.33940	T	0.23	.	10.2441	0.43330	0.0:0.7369:0.0:0.2631	.	1205;1205	O75445-2;O75445	.;USH2A_HUMAN	S	1205	ENSP00000305941:A1205S;ENSP00000355910:A1205S;ENSP00000355909:A1205S	ENSP00000305941:A1205S	A	-	1	0	USH2A	214439790	0.070000	0.21116	0.328000	0.25416	0.999000	0.98932	0.724000	0.25954	0.497000	0.27926	0.655000	0.94253	GCT		PASS	0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		39	87	39	87	---	---	---	---
TAF1A	9015	broad.mit.edu	37	1	222742979	222742979	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:222742979G>T	ENST00000352967.4	-	7	955	c.767C>A	c.(766-768)gCc>gAc	p.A256D	TAF1A_ENST00000366890.1_Missense_Mutation_p.A142D|TAF1A_ENST00000350027.4_Missense_Mutation_p.A256D|TAF1A_ENST00000543857.1_Missense_Mutation_p.A256D|TAF1A_ENST00000391882.1_Missense_Mutation_p.A142D|TAF1A_ENST00000465263.1_5'UTR	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	256					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.A256D(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TACCTCTTGGGCTCCATCTCG	0.353																																						uc009xdz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)GCC>GAC		TBP-associated factor 1A isoform 2							101.0	98.0	99.0					1																	222742979		2203	4300	6503	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222742979G>T	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.767C>A	1.37:g.222742979G>T	ENSP00000327072:p.Ala256Asp					TAF1A_uc001hni.1_Missense_Mutation_p.A142D|TAF1A_uc001hnj.2_Missense_Mutation_p.A256D|TAF1A_uc001hnk.2_Missense_Mutation_p.A142D|TAF1A_uc010pur.1_Missense_Mutation_p.A256D	p.A256D	NM_139352	NP_647603	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	7	956	-			256					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.767C>A	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657432	0.88154	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.96	5.96	0.96718	.	0.149179	0.64402	D	0.000010	T	0.69223	0.3087	M	0.81341	2.54	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.983	T	0.72327	-0.4327	10	0.87932	D	0	-1.705	12.5086	0.55995	0.0768:0.0:0.9232:0.0	.	256;256	B4DS21;Q15573	.;TAF1A_HUMAN	D	142;256;256;142;218;218;256	ENSP00000355856:A142D;ENSP00000339976:A256D;ENSP00000327072:A256D;ENSP00000375754:A142D;ENSP00000375755:A218D;ENSP00000437725:A256D	ENSP00000339976:A256D	A	-	2	0	TAF1A	220809602	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.480000	0.66820	2.831000	0.97527	0.650000	0.86243	GCC		PASS	0.353	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		27	43	27	43	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	240990468	240990468	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:240990468C>G	ENST00000407727.1	-	9	613	c.614G>C	c.(613-615)gGa>gCa	p.G205A	RGS7_ENST00000366563.1_Missense_Mutation_p.G205A|RGS7_ENST00000331110.7_Missense_Mutation_p.G179A|RGS7_ENST00000366562.4_Missense_Mutation_p.G205A|RGS7_ENST00000366564.1_Missense_Mutation_p.G205A|RGS7_ENST00000366565.1_Missense_Mutation_p.G205A|RGS7_ENST00000446183.2_Missense_Mutation_p.G121A|RGS7_ENST00000348120.2_Missense_Mutation_p.G152A|RGS7_ENST00000401882.1_Missense_Mutation_p.G152A			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	205					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.G205A(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ATTTACACATCCAGGCTGGGA	0.433																																						uc001hyv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(613-615)GGA>GCA		regulator of G-protein signaling 7							131.0	119.0	123.0					1																	240990468		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240990468C>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.614G>C	1.37:g.240990468C>G	ENSP00000384428:p.Gly205Ala					RGS7_uc010pyh.1_Missense_Mutation_p.G179A|RGS7_uc010pyj.1_Missense_Mutation_p.G121A|RGS7_uc001hyu.2_Missense_Mutation_p.G205A|RGS7_uc009xgn.1_Missense_Mutation_p.G152A|RGS7_uc001hyw.2_Missense_Mutation_p.G205A|RGS7_uc001hyt.2_Missense_Mutation_p.G37A	p.G205A	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		10	944	-		all_cancers(173;0.0131)	205					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.614G>C		.	.	.	.	.	.	.	.	.	.	C	23.5	4.421013	0.83559	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.52754	1.1;1.18;1.15;1.12;0.65;1.21;1.14;1.15;1.09;1.21	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;0.999;1.0;0.992;1.0;0.973;0.999	T	0.78540	-0.2165	10	0.87932	D	0	-15.4807	15.0171	0.71594	0.0:1.0:0.0:0.0	.	121;179;152;205;205;205;205	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	A	179;205;205;205;36;152;121;205;205;152	ENSP00000331485:G179A;ENSP00000355523:G205A;ENSP00000355522:G205A;ENSP00000355521:G205A;ENSP00000404399:G36A;ENSP00000341242:G152A;ENSP00000390138:G121A;ENSP00000355520:G205A;ENSP00000384428:G205A;ENSP00000385508:G152A	ENSP00000331485:G179A	G	-	2	0	RGS7	239057091	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.347000	0.73004	2.631000	0.89168	0.655000	0.94253	GGA		PASS	0.433	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		4	73	4	73	---	---	---	---
OPN3	23596	broad.mit.edu	37	1	241767615	241767615	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:241767615G>A	ENST00000366554.2	-	2	746	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	214					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.P214S(1)		endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACACCCAGGGGCACCACCAGG	0.512																																						uc001hza.2																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)CCC>TCC		opsin 3							90.0	83.0	85.0					1																	241767615		2203	4300	6503	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241767615G>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.640C>T	1.37:g.241767615G>A	ENSP00000355512:p.Pro214Ser					OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.P214S	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		2	785	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	214			Helical; Name=5; (Potential).		Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.640C>T	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149879	0.78001	.	.	ENSG00000054277	ENST00000366554	T	0.55930	0.49	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89594	0.3830	10	0.87932	D	0	.	17.7743	0.88502	0.0:0.0:1.0:0.0	.	214	Q9H1Y3	OPN3_HUMAN	S	214	ENSP00000355512:P214S	ENSP00000355512:P214S	P	-	1	0	OPN3	239834238	1.000000	0.71417	0.991000	0.47740	0.615000	0.37417	8.881000	0.92415	2.279000	0.76181	0.650000	0.86243	CCC		PASS	0.512	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		22	64	22	64	---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243333015	243333015	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:243333015C>A	ENST00000366542.1	-	12	1809	c.1758G>T	c.(1756-1758)caG>caT	p.Q586H	RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.Q488H|CEP170_ENST00000366543.1_Missense_Mutation_p.Q488H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	586						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.Q586H(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AACTAGCCCACTGTGAAACCC	0.403																																						uc001hzs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(1756-1758)CAG>CAT		centrosomal protein 170kDa isoform alpha							91.0	82.0	84.0					1																	243333015		1869	4100	5969	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243333015C>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1758G>T	1.37:g.243333015C>A	ENSP00000355500:p.Gln586His					CEP170_uc001hzt.2_Missense_Mutation_p.Q488H|CEP170_uc001hzu.2_Missense_Mutation_p.Q488H	p.Q586H	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		12	2166	-	all_neural(11;0.101)	all_cancers(173;0.003)	586					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1758G>T	CCDS44339.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.71|17.71|17.71	3.456931|3.456931|3.456931	0.63401|0.63401|0.63401	.|.|.	.|.|.	ENSG00000143702|ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000336415|ENST00000522895	T;T;T|.|.	0.55052|.|.	0.82;0.54;0.55|.|.	4.66|4.66|4.66	-5.83|-5.83|-5.83	0.02325|0.02325|0.02325	.|.|.	0.115814|.|.	0.64402|.|.	D|.|.	0.000012|.|.	T|T|T	0.62672|0.62672|0.62672	0.2447|0.2447|0.2447	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.76494|.|.	0.998;0.998;0.999|.|.	D;D;D|.|.	0.85130|.|.	0.994;0.988;0.997|.|.	T|T|T	0.63554|0.63554|0.63554	-0.6611|-0.6611|-0.6611	10|5|5	0.59425|.|.	D|.|.	0.04|.|.	-8.9642|-8.9642|-8.9642	12.2293|12.2293|12.2293	0.54478|0.54478|0.54478	0.0:0.416:0.0:0.584|0.0:0.416:0.0:0.584|0.0:0.416:0.0:0.584	.|.|.	488;488;586|.|.	Q5SW79-3;Q5SW79-2;Q5SW79|.|.	.;.;CE170_HUMAN|.|.	H|I|L	586;488;488|550|115	ENSP00000355500:Q586H;ENSP00000355502:Q488H;ENSP00000355501:Q488H|.|.	ENSP00000355500:Q586H|.|.	Q|S|V	-|-|-	3|2|1	2|0|0	CEP170|CEP170|CEP170	241399638|241399638|241399638	0.116000|0.116000|0.116000	0.22171|0.22171|0.22171	0.628000|0.628000|0.628000	0.29241|0.29241|0.29241	0.976000|0.976000|0.976000	0.68499|0.68499|0.68499	-0.436000|-0.436000|-0.436000	0.06922|0.06922|0.06922	-1.969000|-1.969000|-1.969000	0.01005|0.01005|0.01005	-0.344000|-0.344000|-0.344000	0.07964|0.07964|0.07964	CAG|AGT|GTG		PASS	0.403	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		26	34	26	34	---	---	---	---
C1orf100	200159	broad.mit.edu	37	1	244541905	244541905	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:244541905T>A	ENST00000308105.4	+	4	402	c.289T>A	c.(289-291)Tac>Aac	p.Y97N	C1orf100_ENST00000470211.1_3'UTR|C1orf100_ENST00000366537.1_Missense_Mutation_p.Y65N|RP11-518L10.5_ENST00000417765.1_RNA	NM_001012970.1	NP_001012988.1	Q5SVJ3	CA100_HUMAN	chromosome 1 open reading frame 100	97								p.Y97N(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			AGAAACCACTTACCGACGAGA	0.423																																						uc001iah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)TAC>AAC		hypothetical protein LOC200159							95.0	88.0	90.0					1																	244541905		2203	4300	6503	SO:0001583	missense	200159							g.chr1:244541905T>A	BC054479	CCDS31079.1, CCDS60465.1	1q44	2008-02-05			ENSG00000173728	ENSG00000173728			30435	protein-coding gene	gene with protein product							Standard	NM_001276348		Approved		uc001iah.4	Q5SVJ3	OTTHUMG00000040104	ENST00000308105.4:c.289T>A	1.37:g.244541905T>A	ENSP00000311218:p.Tyr97Asn					C1orf100_uc001iai.2_Missense_Mutation_p.Y65N	p.Y97N	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)		4	402	+	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		97					Q5SVJ4	Missense_Mutation	SNP	ENST00000308105.4	37	c.289T>A	CCDS31079.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079352	0.55753	.	.	ENSG00000173728	ENST00000366537;ENST00000308105	.	.	.	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000020	T	0.71978	0.3404	M	0.68952	2.095	0.40869	D	0.983898	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75819	-0.3183	9	0.87932	D	0	-6.8796	10.9124	0.47116	0.0:0.0:0.0:1.0	.	65;97	Q5SVJ3-2;Q5SVJ3	.;CA100_HUMAN	N	65;97	.	ENSP00000311218:Y97N	Y	+	1	0	C1orf100	242608528	0.991000	0.36638	0.962000	0.40283	0.465000	0.32709	3.379000	0.52440	2.073000	0.62155	0.533000	0.62120	TAC		PASS	0.423	C1orf100-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096712.1	NM_001012970		27	72	27	72	---	---	---	---
OR2C3	81472	broad.mit.edu	37	1	247695001	247695001	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:247695001C>T	ENST00000366487.3	-	2	1174	c.813G>A	c.(811-813)caG>caA	p.Q271Q	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q270Q(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGAACTTGCCCTGCTCATGGG	0.537																																						uc009xgy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(811-813)CAG>CAA		olfactory receptor, family 2, subfamily C,							119.0	102.0	108.0					1																	247695001		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695001C>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.813G>A	1.37:g.247695001C>T						C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.Q271Q	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1175	-	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;0.0242)	271			Extracellular (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.813G>A	CCDS1634.2																																																																																				PASS	0.537	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		17	64	17	64	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978866	247978866	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:247978866G>T	ENST00000357627.1	-	1	165	c.166C>A	c.(166-168)Ccc>Acc	p.P56T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P56T(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAATACACGGGGGTGTGGAGA	0.408																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CCC>ACC		olfactory receptor, family 14, subfamily A,							73.0	73.0	73.0					1																	247978866		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978866G>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.166C>A	1.37:g.247978866G>T	ENSP00000350248:p.Pro56Thr						p.P56T	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	166	-			56			Helical; Name=2; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.166C>A	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833208	0.32421	.	.	ENSG00000196772	ENST00000357627	T	0.02032	4.49	3.51	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	U	0.000384	T	0.18718	0.0449	H	0.97983	4.12	0.29345	N	0.865731	D	0.76494	0.999	D	0.79784	0.993	T	0.14643	-1.0465	10	0.72032	D	0.01	.	9.2072	0.37296	0.1837:0.0:0.8163:0.0	.	56	Q8NHC5	O14AG_HUMAN	T	56	ENSP00000350248:P56T	ENSP00000350248:P56T	P	-	1	0	OR14A16	246045489	0.997000	0.39634	0.327000	0.25402	0.030000	0.12068	2.785000	0.47782	0.329000	0.23460	0.590000	0.80494	CCC		PASS	0.408	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		18	37	18	37	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248263011	248263011	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:248263011T>A	ENST00000358120.2	+	2	479	c.334T>A	c.(334-336)Tta>Ata	p.L112I	OR2L13_ENST00000366478.2_Missense_Mutation_p.L112I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L112I(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TTCTGAAGGCTTACTCCTGAC	0.498																																						uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(334-336)TTA>ATA		olfactory receptor, family 2, subfamily L,							248.0	227.0	234.0					1																	248263011		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263011T>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.334T>A	1.37:g.248263011T>A	ENSP00000350836:p.Leu112Ile						p.L112I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	671	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		112			Helical; Name=3; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.334T>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268554	0.59540	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.03801	3.8;3.8	4.07	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35805	N	0.002964	T	0.09686	0.0238	N	0.25957	0.775	0.18873	N	0.999983	D	0.71674	0.998	D	0.80764	0.994	T	0.07177	-1.0786	10	0.48119	T	0.1	.	9.4203	0.38548	0.0:0.0896:0.0:0.9104	.	112	Q8N349	OR2LD_HUMAN	I	112	ENSP00000355434:L112I;ENSP00000350836:L112I	ENSP00000350836:L112I	L	+	1	2	OR2L13	246329634	0.000000	0.05858	0.964000	0.40570	0.520000	0.34377	-2.506000	0.00962	1.688000	0.51068	0.528000	0.53228	TTA		PASS	0.498	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		114	241	114	241	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616170	248616170	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:248616170C>A	ENST00000342927.3	+	1	94	c.72C>A	c.(70-72)ttC>ttA	p.F24L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F24L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCTGCCTTCCCCGGGCTTC	0.527																																						uc001iek.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(70-72)TTC>TTA		olfactory receptor, family 2, subfamily T,							170.0	191.0	184.0					1																	248616170		2202	4300	6502	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616170C>A	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.72C>A	1.37:g.248616170C>A	ENSP00000343062:p.Phe24Leu						p.F24L	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	72	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		24			Extracellular (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.72C>A	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	c	4.817	0.151817	0.09185	.	.	ENSG00000196240	ENST00000342927	T	0.02631	4.22	3.2	0.0205	0.14125	.	0.790509	0.11006	N	0.609944	T	0.00845	0.0028	N	0.00869	-1.13	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47222	-0.9134	10	0.07990	T	0.79	.	4.2351	0.10621	0.0:0.4968:0.1745:0.3287	.	24	Q6IF00	OR2T2_HUMAN	L	24	ENSP00000343062:F24L	ENSP00000343062:F24L	F	+	3	2	OR2T2	246682793	0.000000	0.05858	0.021000	0.16686	0.399000	0.30720	-0.018000	0.12568	-0.210000	0.10140	0.298000	0.19748	TTC		PASS	0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		113	273	113	273	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685254	248685254	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:248685254G>T	ENST00000343414.4	+	1	339	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V103L(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGCTCTATGTGGCCATGGG	0.532																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(307-309)GTG>TTG		olfactory receptor, family 2, subfamily G,							108.0	107.0	107.0					1																	248685254		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685254G>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.307G>T	1.37:g.248685254G>T	ENSP00000341291:p.Val103Leu						p.V103L	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	307	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	103			Helical; Name=3; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.307G>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	5.381	0.255512	0.10185	.	.	ENSG00000188558	ENST00000343414	T	0.00384	7.6	3.68	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.206543	0.24400	U	0.038856	T	0.00178	0.0005	N	0.17922	0.545	0.09310	N	1	P	0.39940	0.696	B	0.30782	0.12	T	0.51004	-0.8760	10	0.34782	T	0.22	.	9.1383	0.36888	0.0:0.0:0.4571:0.5428	.	103	Q5TZ20	OR2G6_HUMAN	L	103	ENSP00000341291:V103L	ENSP00000341291:V103L	V	+	1	0	OR2G6	246751877	0.001000	0.12720	0.120000	0.21714	0.114000	0.19823	0.918000	0.28678	0.672000	0.31204	0.400000	0.26472	GTG		PASS	0.532	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		83	104	83	104	---	---	---	---
SH3BP5L	80851	broad.mit.edu	37	1	249106314	249106314	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr1:249106314C>A	ENST00000366472.5	-	7	2196	c.967G>T	c.(967-969)Ggg>Tgg	p.G323W	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.G291W|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	323								p.G323W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGCCGGGCCCCAGGCTGCTG	0.716																																						uc001iew.1																			1	Substitution - Missense(1)		lung(1)		0						c.(967-969)GGG>TGG		SH3-binding domain protein 5-like							16.0	21.0	19.0					1																	249106314		2192	4284	6476	SO:0001583	missense	80851							g.chr1:249106314C>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.967G>T	1.37:g.249106314C>A	ENSP00000355428:p.Gly323Trp					SH3BP5L_uc010pzp.1_Missense_Mutation_p.G216W|SH3BP5L_uc010pzq.1_Missense_Mutation_p.G291W|SH3BP5L_uc001iev.1_Missense_Mutation_p.G204W	p.G323W	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	1519	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	323					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	c.967G>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	9.660	1.143845	0.21205	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	4.12	3.2	0.36748	.	0.315612	0.29908	N	0.010896	T	0.26011	0.0634	N	0.19112	0.55	0.29853	N	0.82825	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.16364	-1.0405	9	0.56958	D	0.05	-49.0228	8.0968	0.30833	0.0:0.8871:0.0:0.1129	.	291;216;323;181	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	W	323;291	.	ENSP00000355428:G323W	G	-	1	0	SH3BP5L	247072937	0.970000	0.33590	0.807000	0.32361	0.412000	0.31113	3.107000	0.50329	1.070000	0.40811	0.313000	0.20887	GGG		PASS	0.716	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		43	52	43	52	---	---	---	---
SOX11	6664	broad.mit.edu	37	2	5832877	5832877	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:5832877G>T	ENST00000322002.3	+	1	79	c.24G>T	c.(22-24)ttG>ttT	p.L8F	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	8					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)	p.L8F(1)		central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CGGAGAGCTTGGAAGCGGAGA	0.701																																						uc002qyj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(22-24)TTG>TTT		SRY-box 11							21.0	23.0	22.0					2																	5832877		2202	4299	6501	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5832877G>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.24G>T	2.37:g.5832877G>T	ENSP00000322568:p.Leu8Phe						p.L8F	NM_003108	NP_003099	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	79	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		8					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.24G>T	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	g	14.39	2.520008	0.44866	.	.	ENSG00000176887	ENST00000322002	D	0.97850	-4.57	3.37	2.37	0.29283	.	0.452996	0.18412	U	0.142002	D	0.93393	0.7893	N	0.22421	0.69	0.25420	N	0.988276	P	0.37731	0.607	B	0.34180	0.177	D	0.89445	0.3726	10	0.66056	D	0.02	.	11.6945	0.51536	0.0:0.315:0.685:0.0	.	8	P35716	SOX11_HUMAN	F	8	ENSP00000322568:L8F	ENSP00000322568:L8F	L	+	3	2	SOX11	5750328	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.694000	0.25512	1.554000	0.49487	0.472000	0.43445	TTG		PASS	0.701	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		14	13	14	13	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15542399	15542399	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:15542399C>A	ENST00000281513.5	-	26	2989	c.2964G>T	c.(2962-2964)caG>caT	p.Q988H	NBAS_ENST00000441750.1_Missense_Mutation_p.Q868H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	988					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q988H(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCAGTTGGTCCTGATCAGGAA	0.368																																						uc002rcc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(2962-2964)CAG>CAT		neuroblastoma-amplified protein							133.0	128.0	129.0					2																	15542399		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15542399C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2964G>T	2.37:g.15542399C>A	ENSP00000281513:p.Gln988His					NBAS_uc010exl.1_Missense_Mutation_p.Q60H|NBAS_uc002rcd.1_RNA	p.Q988H	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			26	2990	-			988					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2964G>T	CCDS1685.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.47|17.47|17.47	3.398566|3.398566|3.398566	0.62177|0.62177|0.62177	.|.|.	.|.|.	ENSG00000151779|ENSG00000151779|ENSG00000151779	ENST00000429842|ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	.|T;T;T|.	.|0.17370|.	.|2.28;2.28;2.28|.	5.65|5.65|5.65	2.82|2.82|2.82	0.32997|0.32997|0.32997	.|Secretory pathway Sec39 (1);|.	.|0.157496|.	.|0.64402|.	.|D|.	.|0.000019|.	.|T|T	.|0.55162|0.55162	.|0.1903|0.1903	L|L|L	0.47716|0.47716|0.47716	1.5|1.5|1.5	0.41372|0.41372|0.41372	D|D|D	0.987495|0.987495|0.987495	.|D;P|.	.|0.71674|.	.|0.998;0.917|.	.|D;P|.	.|0.64877|.	.|0.93;0.76|.	.|T|T	.|0.45789|0.45789	.|-0.9237|-0.9237	.|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	8.7146|8.7146|8.7146	0.34403|0.34403|0.34403	0.0:0.6807:0.0:0.3193|0.0:0.6807:0.0:0.3193|0.0:0.6807:0.0:0.3193	.|.|.	.|868;988|.	.|A2RRP1-2;A2RRP1|.	.|.;NBAS_HUMAN|.	X|H|M	86|868;988;35|36	.|ENSP00000413201:Q868H;ENSP00000281513:Q988H;ENSP00000396501:Q35H|.	.|ENSP00000281513:Q988H|.	G|Q|R	-|-|-	1|3|2	0|2|0	NBAS|NBAS|NBAS	15459850|15459850|15459850	0.968000|0.968000|0.968000	0.33430|0.33430|0.33430	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	0.099000|0.099000|0.099000	0.15210|0.15210|0.15210	0.293000|0.293000|0.293000	0.22520|0.22520|0.22520	-0.136000|-0.136000|-0.136000	0.14681|0.14681|0.14681	GGA|CAG|AGG		PASS	0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		14	53	14	53	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24949570	24949570	+	Silent	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:24949570A>T	ENST00000406961.1	+	15	3364	c.2712A>T	c.(2710-2712)tcA>tcT	p.S904S	NCOA1_ENST00000407230.1_Silent_p.S753S|NCOA1_ENST00000395856.3_Silent_p.S904S|NCOA1_ENST00000288599.5_Silent_p.S904S|NCOA1_ENST00000538539.1_Silent_p.S904S|NCOA1_ENST00000405141.1_Silent_p.S904S|NCOA1_ENST00000348332.3_Silent_p.S904S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	904	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.S904S(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGTAAATCAGAAGAGTAAG	0.333			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(2710-2712)TCA>TCT		nuclear receptor coactivator 1 isoform 1							72.0	74.0	73.0					2																	24949570		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24949570A>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2712A>T	2.37:g.24949570A>T						NCOA1_uc010eye.2_Silent_p.S904S|NCOA1_uc002rfi.2_Silent_p.S753S|NCOA1_uc002rfj.2_Silent_p.S904S|NCOA1_uc002rfl.2_Silent_p.S904S	p.S904S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			13	2970	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		904			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.2712A>T	CCDS1712.1																																																																																				PASS	0.333	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		18	22	18	22	---	---	---	---
CCDC121	79635	broad.mit.edu	37	2	27850564	27850564	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:27850564C>G	ENST00000324364.3	-	2	283	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000424214.1_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000264718.3_5'Flank|GPN1_ENST00000407583.3_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.E197Q|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000458167.2_5'Flank|ZNF512_ENST00000556601.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	35								p.E35Q(1)|p.E197Q(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					AATCTGTTTTCAGCCTGGACA	0.428																																						uc002rle.2																			2	Substitution - Missense(2)		lung(2)		0						c.(103-105)GAA>CAA		coiled-coil domain containing 121 isoform 3							108.0	114.0	112.0					2																	27850564		2203	4297	6500	SO:0001583	missense	79635							g.chr2:27850564C>G	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.103G>C	2.37:g.27850564C>G	ENSP00000339087:p.Glu35Gln					ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.E199Q|CCDC121_uc002rld.2_Missense_Mutation_p.E197Q|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	p.E35Q	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN			2	284	-	Acute lymphoblastic leukemia(172;0.155)		35					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.103G>C	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063968	0.55432	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.46451	0.87;0.87	4.61	3.73	0.42828	.	0.485871	0.18786	N	0.131188	T	0.57373	0.2049	M	0.68952	2.095	0.18873	N	0.999983	D	0.76494	0.999	D	0.66847	0.947	T	0.48055	-0.9068	10	0.72032	D	0.01	-22.466	8.526	0.33304	0.0:0.8896:0.0:0.1104	.	35	Q6ZUS5	CC121_HUMAN	Q	35;197	ENSP00000339087:E35Q;ENSP00000412150:E197Q	ENSP00000339087:E35Q	E	-	1	0	CCDC121	27704068	0.997000	0.39634	0.397000	0.26308	0.025000	0.11179	1.233000	0.32648	0.904000	0.36572	0.467000	0.42956	GAA		PASS	0.428	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		79	191	79	191	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50758548	50758548	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:50758548C>A	ENST00000406316.2	-	11	3640	c.2164G>T	c.(2164-2166)Gat>Tat	p.D722Y	NRXN1_ENST00000404971.1_Missense_Mutation_p.D762Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.D722Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.D714Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.D722Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.D714Y	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	722	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.D722Y(1)|p.D762Y(1)|p.D763Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGCTCCCATCATAGCTCAAA	0.413																																						uc010fbq.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2284-2286)GAT>TAT		neurexin 1 isoform alpha2 precursor							39.0	40.0	40.0					2																	50758548		1946	4159	6105	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50758548C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2164G>T	2.37:g.50758548C>A	ENSP00000384311:p.Asp722Tyr					NRXN1_uc002rxb.3_Missense_Mutation_p.D394Y|NRXN1_uc002rxe.3_Missense_Mutation_p.D722Y|NRXN1_uc002rxc.1_RNA	p.D762Y	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3761	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2284G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996076	0.93167	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.89863	0.6838	M	0.69823	2.125	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.89808	0.3980	10	0.87932	D	0	.	20.3316	0.98722	0.0:1.0:0.0:0.0	.	762;722;714	Q9ULB1-3;F8WB18;A7E294	.;.;.	Y	762;722;714;722;763;714;722	ENSP00000385142:D762Y;ENSP00000384311:D722Y;ENSP00000434015:D714Y;ENSP00000385017:D722Y;ENSP00000385434:D714Y;ENSP00000385681:D722Y	ENSP00000385017:D722Y	D	-	1	0	NRXN1	50612052	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.772000	0.85439	2.871000	0.98454	0.655000	0.94253	GAT		PASS	0.413	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			13	21	13	21	---	---	---	---
COMMD1	150684	broad.mit.edu	37	2	62227991	62227991	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:62227991G>A	ENST00000311832.5	+	2	368	c.336G>A	c.(334-336)caG>caA	p.Q112Q	COMMD1_ENST00000472729.1_3'UTR|COMMD1_ENST00000538736.1_Silent_p.Q112Q	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	112					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.Q112Q(1)		large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			TCATGAACCAGAGCCGCTGGA	0.498																																						uc002sbp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(334-336)CAG>CAA		MURR1							60.0	64.0	63.0					2																	62227991		2203	4300	6503	SO:0001819	synonymous_variant	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62227991G>A	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.336G>A	2.37:g.62227991G>A						COMMD1_uc002sbq.1_RNA	p.Q112Q	NM_152516	NP_689729	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		2	347	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		112					B4DFQ4|Q96GS0	Silent	SNP	ENST00000311832.5	37	c.336G>A	CCDS1869.1																																																																																				PASS	0.498	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		8	73	8	73	---	---	---	---
PCYOX1	51449	broad.mit.edu	37	2	70486501	70486501	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:70486501G>C	ENST00000433351.2	+	2	150	c.122G>C	c.(121-123)gGa>gCa	p.G41A	PCYOX1_ENST00000545138.1_5'UTR|PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000264441.5_Missense_Mutation_p.G41A	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	41					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)	p.G41A(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GCGATTATTGGAGCCGGAATT	0.438																																						uc002sgn.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(121-123)GGA>GCA		prenylcysteine oxidase 1 precursor							132.0	145.0	141.0					2																	70486501		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70486501G>C	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.122G>C	2.37:g.70486501G>C	ENSP00000387654:p.Gly41Ala					PCYOX1_uc010fdo.2_5'UTR|PCYOX1_uc010yqu.1_Missense_Mutation_p.G41A	p.G41A	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN			2	188	+			41					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.122G>C	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755878	0.89843	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	D;D	0.99915	-7.99;-7.99	5.39	5.39	0.77823	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96431	0.9319	10	0.66056	D	0.02	-15.5793	17.8844	0.88849	0.0:0.0:1.0:0.0	.	41;41	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	A	41	ENSP00000387654:G41A;ENSP00000264441:G41A	ENSP00000264441:G41A	G	+	2	0	PCYOX1	70340005	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.182000	0.94881	2.795000	0.96236	0.655000	0.94253	GGA		PASS	0.438	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		16	295	16	295	---	---	---	---
NAGK	55577	broad.mit.edu	37	2	71305575	71305575	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:71305575G>A	ENST00000244204.6	+	10	1034	c.972G>A	c.(970-972)ggG>ggA	p.G324G	NAGK_ENST00000443938.2_Silent_p.G320G|NAGK_ENST00000418807.3_Silent_p.G273G|NAGK_ENST00000443872.2_Silent_p.G176G|NAGK_ENST00000455662.2_Silent_p.G370G			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	324				G -> R (in Ref. 2; BAA91923). {ECO:0000305}.	carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.G324G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GGCACATCGGGCACCTCCTCC	0.607																																						uc002shp.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(970-972)GGG>GGA		N-Acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						33.0	31.0	32.0					2																	71305575		2202	4278	6480	SO:0001819	synonymous_variant	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71305575G>A	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.972G>A	2.37:g.71305575G>A						NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Silent_p.G175G|NAGK_uc002shr.2_Silent_p.G273G	p.G324G	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN			10	1378	+			324	G -> R (in Ref. 2; BAA91923).				B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Silent	SNP	ENST00000244204.6	37	c.972G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.740|7.740	0.700992|0.700992	0.15172|0.15172	.|.	.|.	ENSG00000124357|ENSG00000124357	ENST00000524537|ENST00000443938	.|T	.|0.31769	.|1.48	4.82|4.82	1.25|1.25	0.21368|0.21368	.|.	.|0.155085	.|0.56097	.|D	.|0.000024	T|T	0.33760|0.33760	0.0874|0.0874	.|.	.|.	.|.	0.53005|0.53005	D|D	0.999968|0.999968	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.03910|0.03910	-1.0993|-1.0993	4|7	.|0.42905	.|T	.|0.14	-18.0046|-18.0046	6.723|6.723	0.23340|0.23340	0.132:0.4862:0.3818:0.0|0.132:0.4862:0.3818:0.0	.|.	.|.	.|.	.|.	T|D	89|342	.|ENSP00000411846:G342D	.|ENSP00000411846:G342D	A|G	+|+	1|2	0|0	NAGK|NAGK	71159083|71159083	0.000000|0.000000	0.05858|0.05858	0.985000|0.985000	0.45067|0.45067	0.942000|0.942000	0.58702|0.58702	-1.411000|-1.411000	0.02478|0.02478	0.035000|0.035000	0.15519|0.15519	0.563000|0.563000	0.77884|0.77884	GCA|GGC		PASS	0.607	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			10	14	10	14	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77745583	77745583	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:77745583C>A	ENST00000409093.1	-	3	1748	c.1412G>T	c.(1411-1413)aGa>aTa	p.R471I	LRRTM4_ENST00000409088.3_Missense_Mutation_p.R471I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R471I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R472I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R472I			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	471					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.R471I(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTCAGACTCTCTGGCCTTTTT	0.453																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1411-1413)AGA>ATA		leucine rich repeat transmembrane neuronal 4							78.0	77.0	77.0					2																	77745583		1900	4130	6030	SO:0001583	missense	80059					integral to membrane		g.chr2:77745583C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1412G>T	2.37:g.77745583C>A	ENSP00000386357:p.Arg471Ile					LRRTM4_uc002snq.2_Missense_Mutation_p.R471I|LRRTM4_uc002sns.2_Missense_Mutation_p.R471I|LRRTM4_uc002snt.2_Missense_Mutation_p.R472I	p.R471I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1827	-			471			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1412G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763809	0.69878	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87541	0.6203	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.993;0.996;0.998	D;D;D	0.69824	0.926;0.966;0.949	D	0.88169	0.2863	10	0.72032	D	0.01	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	472;471;471	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	I	472;471;471;471;472	ENSP00000387228:R472I;ENSP00000387297:R471I;ENSP00000386357:R471I;ENSP00000386236:R471I;ENSP00000386286:R472I	ENSP00000386236:R471I	R	-	2	0	LRRTM4	77599091	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.670000	0.90874	0.655000	0.94253	AGA		PASS	0.453	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		34	62	34	62	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77745861	77745861	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:77745861G>T	ENST00000409093.1	-	3	1470	c.1134C>A	c.(1132-1134)ccC>ccA	p.P378P	LRRTM4_ENST00000409088.3_Silent_p.P378P|LRRTM4_ENST00000409884.1_Silent_p.P378P|LRRTM4_ENST00000409282.1_Silent_p.P379P|LRRTM4_ENST00000409911.1_Silent_p.P379P			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	378					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.P378P(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAGGTTTCTGGGGAGTTTGGG	0.478																																						uc002snr.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1132-1134)CCC>CCA		leucine rich repeat transmembrane neuronal 4							132.0	128.0	130.0					2																	77745861		1884	4110	5994	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745861G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1134C>A	2.37:g.77745861G>T						LRRTM4_uc002snq.2_Silent_p.P378P|LRRTM4_uc002sns.2_Silent_p.P378P|LRRTM4_uc002snt.2_Silent_p.P379P	p.P378P	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1549	-			378			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1134C>A	CCDS46346.1																																																																																				PASS	0.478	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		21	54	21	54	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80874899	80874899	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:80874899C>T	ENST00000402739.4	+	18	2769	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	CTNNA2_ENST00000496558.1_Missense_Mutation_p.P874S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P829S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P874S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P908S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P553S|CTNNA2_ENST00000466387.1_Missense_Mutation_p.P874S	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	922					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.P874S(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						GAGAGAAAAGCCTGAAGAATT	0.458																																						uc010ysh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2764-2766)CCT>TCT		catenin, alpha 2 isoform 1							147.0	147.0	147.0					2																	80874899		1866	4113	5979	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.chr2:80874899C>T		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.2764C>T	2.37:g.80874899C>T	ENSP00000384638:p.Pro922Ser					CTNNA2_uc010yse.1_Missense_Mutation_p.P874S|CTNNA2_uc010ysf.1_Missense_Mutation_p.P874S|CTNNA2_uc010ysg.1_Missense_Mutation_p.P829S|CTNNA2_uc010ysi.1_Missense_Mutation_p.P506S|CTNNA2_uc010ysj.1_Missense_Mutation_p.P203S	p.P922S	NM_004389	NP_004380	P26232	CTNA2_HUMAN			18	2769	+			922					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2764C>T		.	.	.	.	.	.	.	.	.	.	C	15.75	2.925419	0.52759	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39229	1.2;1.2;1.17;1.09;1.2;1.16;2.4	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	L	0.55990	1.75	0.49687	D	0.99981	B;B;B;B	0.31730	0.123;0.123;0.337;0.203	B;B;B;B	0.32624	0.09;0.041;0.149;0.149	T	0.18366	-1.0339	9	.	.	.	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	506;922;829;874	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	S	874;874;908;922;874;829;553	ENSP00000418191:P874S;ENSP00000419295:P874S;ENSP00000355398:P908S;ENSP00000384638:P922S;ENSP00000444675:P874S;ENSP00000441705:P829S;ENSP00000341500:P553S	.	P	+	1	0	CTNNA2	80728410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.856000	0.69518	2.820000	0.97059	0.650000	0.86243	CCT		PASS	0.458	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		86	200	86	200	---	---	---	---
KCMF1	56888	broad.mit.edu	37	2	85276654	85276654	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:85276654G>T	ENST00000409785.4	+	6	1126	c.767G>T	c.(766-768)cGg>cTg	p.R256L		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	256							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R256L(1)		ovary(3)	3						AACGCAACCCGGCGTACTAAC	0.517																																						uc002sox.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(766-768)CGG>CTG		potassium channel modulatory factor 1							111.0	124.0	119.0					2																	85276654		2193	4296	6489	SO:0001583	missense	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85276654G>T	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.767G>T	2.37:g.85276654G>T	ENSP00000386738:p.Arg256Leu						p.R256L	NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN			6	1111	+			256			Potential.		Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	c.767G>T	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330806	0.81690	.	.	ENSG00000176407	ENST00000409785	T	0.47869	0.83	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	L	0.39898	1.24	0.80722	D	1	B	0.13594	0.008	B	0.12837	0.008	T	0.13548	-1.0505	10	0.36615	T	0.2	-11.5381	17.9158	0.88950	0.0:0.0:1.0:0.0	.	256	Q9P0J7	KCMF1_HUMAN	L	256	ENSP00000386738:R256L	ENSP00000386738:R256L	R	+	2	0	KCMF1	85130165	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.442000	0.97566	2.832000	0.97577	0.655000	0.94253	CGG		PASS	0.517	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		25	40	25	40	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90260015	90260015	+	RNA	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:90260015A>T	ENST00000471857.1	+	0	299									immunoglobulin kappa variable 1D-8																		TACAGGAGACAGAGTCACCAT	0.458																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							105.0	106.0	106.0					2																	90260015		1953	4143	6096			0							g.chr2:90260015A>T	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260015A>T														30		+									RNA	SNP	ENST00000471857.1	37	c.3998A>T																																																																																					PASS	0.458	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		30	133	30	133	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98421889	98421890	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:98421889_98421890CC>AA	ENST00000186436.5	-	21	2461_2462	c.2233_2234GG>TT	c.(2233-2235)GGa>TTa	p.G745L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	745						integral component of membrane (GO:0016021)		p.G745V(1)|p.G632*(1)|p.G632L(1)|p.G745L(1)|p.G745*(1)|p.G632V(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						ACACTGTAGTCCAGGATCAAAA	0.401																																						uc002syh.3																			6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(6)	ovary(4)|central_nervous_system(2)	6						c.(2233-2235)GGA>GTA|c.(2233-2235)GGA>TGA		RW1 protein																																				SO:0001583	missense	23505					integral to membrane		g.chr2:98421889C>A|g.chr2:98421890C>A	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.2233_2234delinsAA	2.37:g.98421889_98421890delinsAA	ENSP00000186436:p.Gly745Leu						p.G745V|p.G745*	NM_015348	NP_056163	Q92545	TM131_HUMAN			21	2463|2462	-			745						Missense_Mutation|Nonsense_Mutation	SNP	ENST00000186436.5	37	c.2234G>T|c.2233G>T	CCDS46368.1																																																																																				PASS	0.401	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		10	54|52	10	52	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109389037	109389037	+	Splice_Site	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:109389037G>T	ENST00000283195.6	+	22	8239	c.8113G>T	c.(8113-8115)Gat>Tat	p.D2705Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2705	2 X 50 AA approximate repeats.|Interaction with SUMO1.|Required for E3 SUMO-ligase activity.				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.D2705Y(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						AAATACAGCAGGTATGTTAAG	0.299																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(8113-8115)GAT>TAT		RAN binding protein 2							54.0	60.0	58.0					2																	109389037		2203	4297	6500	SO:0001630	splice_region_variant	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.chr2:109389037G>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.8113+1G>T	2.37:g.109389037G>T							p.D2705Y	NM_006267	NP_006258	P49792	RBP2_HUMAN			22	8239	+			2705			Required for E3 SUMO-ligase activity.|Interaction with SUMO1.|2 X 50 AA approximate repeats.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.8113G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116352	0.56505	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29397	1.57	5.42	5.42	0.78866	.	.	.	.	.	T	0.26846	0.0657	N	0.19112	0.55	0.80722	D	1	P	0.49961	0.93	P	0.45037	0.467	T	0.03175	-1.1064	9	0.66056	D	0.02	-6.1899	16.138	0.81502	0.0:0.0:1.0:0.0	.	2705	P49792	RBP2_HUMAN	Y	1729;2705	ENSP00000283195:D2705Y	ENSP00000283195:D2705Y	D	+	1	0	RANBP2	108755469	1.000000	0.71417	0.998000	0.56505	0.516000	0.34256	4.007000	0.57093	2.834000	0.97654	0.585000	0.79938	GAT		PASS	0.299	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Missense_Mutation	19	40	19	40	---	---	---	---
IL36RN	26525	broad.mit.edu	37	2	113818443	113818443	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:113818443C>A	ENST00000393200.2	+	3	205	c.44C>A	c.(43-45)gCa>gAa	p.A15E	IL36RN_ENST00000346807.3_Missense_Mutation_p.A15E	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	15					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)	p.A15E(1)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AAGGACTCGGCATTGAAGGTG	0.502																																						uc002tis.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)GCA>GAA		interleukin 1 family, member 5							118.0	102.0	108.0					2																	113818443		2203	4300	6503	SO:0001583	missense	26525					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113818443C>A	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.44C>A	2.37:g.113818443C>A	ENSP00000376896:p.Ala15Glu					IL1F5_uc002tit.2_Missense_Mutation_p.A15E	p.A15E	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN			3	177	+			15					A8K2I4|Q56AT9|Q7RTZ6	Missense_Mutation	SNP	ENST00000393200.2	37	c.44C>A	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500520	0.26861	.	.	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	T;T;T	0.74421	-0.84;-0.84;-0.84	4.9	3.09	0.35607	.	0.676938	0.15264	N	0.271624	T	0.53642	0.1809	N	0.17872	0.535	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.32534	-0.9903	10	0.14252	T	0.57	-3.7918	6.3603	0.21425	0.1804:0.7266:0.0:0.093	.	15	Q9UBH0	I36RA_HUMAN	E	15	ENSP00000259212:A15E;ENSP00000376896:A15E;ENSP00000409262:A15E	ENSP00000259212:A15E	A	+	2	0	IL36RN	113534914	0.024000	0.19004	0.049000	0.19019	0.988000	0.76386	1.093000	0.30939	0.772000	0.33382	0.655000	0.94253	GCA		PASS	0.502	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170		3	58	3	58	---	---	---	---
CFAP221	200373	broad.mit.edu	37	2	120397418	120397418	+	Missense_Mutation	SNP	C	C	A	rs150732635	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:120397418C>A	ENST00000413369.3	+	21	2282	c.2195C>A	c.(2194-2196)cCg>cAg	p.P732Q	PCDP1_ENST00000602047.1_Missense_Mutation_p.P446Q	NM_001271049.1	NP_001257978												p.P446Q(1)				Colorectal(110;0.196)					TCCTCCCTGCCGGACCCCTCC	0.498																																						uc002tmb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1336-1338)CCG>CAG		primary ciliary dyskinesia protein 1							93.0	92.0	92.0					2																	120397418		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120397418C>A																												ENST00000413369.3:c.2195C>A	2.37:g.120397418C>A	ENSP00000393222:p.Pro732Gln						p.P446Q	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			22	2429	+	Colorectal(110;0.196)		732						Missense_Mutation	SNP	ENST00000413369.3	37	c.1337C>A	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388102	0.42308	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.35973	1.28	5.07	1.77	0.24775	.	0.826743	0.10614	N	0.654088	T	0.25082	0.0609	L	0.27053	0.805	0.09310	N	1	P	0.44429	0.835	B	0.42738	0.396	T	0.15009	-1.0452	10	0.72032	D	0.01	-2.8148	3.4628	0.07539	0.1895:0.5614:0.0:0.2491	.	732	Q4G0U5	PCDP1_HUMAN	Q	446;732	ENSP00000393222:P732Q	ENSP00000295220:P446Q	P	+	2	0	AC069154.2	120113888	0.002000	0.14202	0.005000	0.12908	0.025000	0.11179	0.244000	0.18124	0.543000	0.28864	0.655000	0.94253	CCG		PASS	0.498	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			42	61	42	61	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128712861	128712861	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:128712861C>A	ENST00000259235.3	-	15	2223	c.2094G>T	c.(2092-2094)atG>atT	p.M698I	SAP130_ENST00000357702.5_Missense_Mutation_p.M733I|SAP130_ENST00000259234.6_Missense_Mutation_p.M706I	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	698					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.M733I(1)|p.M698I(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATACAGTCTCCATGGACACAG	0.468																																						uc002tpp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2092-2094)ATG>ATT		Sin3A-associated protein, 130kDa isoform b							97.0	105.0	102.0					2																	128712861		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128712861C>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2094G>T	2.37:g.128712861C>A	ENSP00000259235:p.Met698Ile					SAP130_uc002tpn.2_Missense_Mutation_p.M458I|SAP130_uc002tpo.2_Missense_Mutation_p.M478I|SAP130_uc010fmd.2_Missense_Mutation_p.M733I|SAP130_uc002tpq.1_Missense_Mutation_p.M706I	p.M698I	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	15	2226	-	Colorectal(110;0.1)		698					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.2094G>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	7.865	0.726937	0.15439	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.33	4.44	0.53790	.	0.593501	0.18602	N	0.136411	T	0.24275	0.0588	N	0.08118	0	0.28868	N	0.895108	B;B;B;B;B	0.18166	0.013;0.001;0.001;0.026;0.0	B;B;B;B;B	0.17979	0.006;0.001;0.001;0.02;0.0	T	0.07424	-1.0773	9	0.24483	T	0.36	-0.3078	14.3007	0.66346	0.0:0.9271:0.0:0.0729	.	733;706;698;263;335	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	I	733;698;706	.	ENSP00000259234:M706I	M	-	3	0	SAP130	128429331	1.000000	0.71417	0.998000	0.56505	0.242000	0.25591	1.559000	0.36320	2.502000	0.84385	0.632000	0.83419	ATG		PASS	0.468	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		28	81	28	81	---	---	---	---
IMP4	92856	broad.mit.edu	37	2	131102229	131102229	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:131102229G>T	ENST00000259239.3	+	3	848	c.140G>T	c.(139-141)cGc>cTc	p.R47L	CCDC115_ENST00000437688.2_5'Flank|CCDC115_ENST00000259229.2_5'Flank|IMP4_ENST00000409935.1_Missense_Mutation_p.R47L|CCDC115_ENST00000409127.1_5'Flank	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	47	Arg-rich.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)		p.R47L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					ACTGAGTTACGCCGAGAGGCT	0.552																																						uc002tra.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(139-141)CGC>CTC		IMP4, U3 small nucleolar ribonucleoprotein,							118.0	110.0	113.0					2																	131102229		2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131102229G>T	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.140G>T	2.37:g.131102229G>T	ENSP00000259239:p.Arg47Leu					CCDC115_uc002tqw.1_5'Flank|CCDC115_uc010zaf.1_5'Flank|CCDC115_uc002tqx.2_5'Flank|CCDC115_uc002tqy.1_5'Flank|CCDC115_uc002tqz.1_5'Flank	p.R47L	NM_033416	NP_219484	Q96G21	IMP4_HUMAN			3	157	+	Colorectal(110;0.1)		47			Arg-rich.		Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.140G>T	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.10|17.10	3.302494|3.302494	0.60195|0.60195	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000452955|ENST00000259239;ENST00000409935	.|T;T	.|0.46819	.|0.86;0.88	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.112392	.|0.64402	.|D	.|0.000007	T|T	0.64427|0.64427	0.2597|0.2597	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	.|P	.|0.42871	.|0.792	.|P	.|0.46208	.|0.507	T|T	0.72640|0.72640	-0.4232|-0.4232	5|10	.|0.52906	.|T	.|0.07	-27.1187|-27.1187	15.6968|15.6968	0.77506|0.77506	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|47	.|Q96G21	.|IMP4_HUMAN	S|L	36|47	.|ENSP00000259239:R47L;ENSP00000386411:R47L	.|ENSP00000259239:R47L	A|R	+|+	1|2	0|0	IMP4|IMP4	130818699|130818699	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.111000|0.111000	0.19643|0.19643	7.322000|7.322000	0.79097|0.79097	2.641000|2.641000	0.89580|0.89580	0.655000|0.655000	0.94253|0.94253	GCC|CGC		PASS	0.552	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		21	87	21	87	---	---	---	---
KYNU	8942	broad.mit.edu	37	2	143685295	143685295	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:143685295A>T	ENST00000410015.2	+	4	448	c.358A>T	c.(358-360)Atg>Ttg	p.M120L	KYNU_ENST00000264170.4_Missense_Mutation_p.M120L|KYNU_ENST00000375773.2_Missense_Mutation_p.M120L|KYNU_ENST00000409512.1_Missense_Mutation_p.M120L					kynureninase									p.M120L(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TGTAGGCCTTATGAAGGACAT	0.358																																						uc002tvl.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(358-360)ATG>TTG		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						187.0	175.0	179.0					2																	143685295		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143685295A>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.358A>T	2.37:g.143685295A>T	ENSP00000387296:p.Met120Leu					KYNU_uc002tvk.2_Missense_Mutation_p.M120L|KYNU_uc010fnm.2_Missense_Mutation_p.M120L	p.M120L	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	4	488	+			120						Missense_Mutation	SNP	ENST00000410015.2	37	c.358A>T		.	.	.	.	.	.	.	.	.	.	A	18.59	3.657628	0.67586	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512;ENST00000410015	D;D;D	0.84873	-1.91;-1.91;-1.91	5.88	4.72	0.59763	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	L	0.28192	0.835	0.37001	D	0.895255	B;B	0.14012	0.009;0.009	B;B	0.20767	0.031;0.024	T	0.64550	-0.6381	10	0.02654	T	1	.	9.9503	0.41634	0.9207:0.0:0.0793:0.0	.	120;120	Q16719;Q9BVW3	KYNU_HUMAN;.	L	120	ENSP00000264170:M120L;ENSP00000364928:M120L;ENSP00000386731:M120L	ENSP00000264170:M120L	M	+	1	0	KYNU	143401765	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.165000	0.58196	2.253000	0.74438	0.455000	0.32223	ATG		PASS	0.358	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998		15	93	15	93	---	---	---	---
G6PC2	57818	broad.mit.edu	37	2	169761069	169761069	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:169761069C>T	ENST00000375363.3	+	3	475	c.383C>T	c.(382-384)aCc>aTc	p.T128I	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_Missense_Mutation_p.T128I|G6PC2_ENST00000421979.1_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	128					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)	p.T128I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GTCATGGTAACCGCTGCCCTG	0.483																																						uc002uem.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(382-384)ACC>ATC		islet-specific glucose-6-phosphatase-related							246.0	223.0	231.0					2																	169761069		2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169761069C>T	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.383C>T	2.37:g.169761069C>T	ENSP00000364512:p.Thr128Ile					G6PC2_uc002uen.2_Missense_Mutation_p.T128I|G6PC2_uc010fpv.2_Missense_Mutation_p.T12I	p.T128I	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN			3	475	+			128			Helical; (Potential).		E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.383C>T	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177583	0.57692	.	.	ENSG00000152254	ENST00000375363;ENST00000429379	T;D	0.91996	-0.74;-2.95	5.78	5.78	0.91487	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94506	0.8231	M	0.70595	2.14	0.80722	D	1	P;P	0.49783	0.928;0.928	P;P	0.56434	0.798;0.798	D	0.94364	0.7590	10	0.66056	D	0.02	-9.6047	15.1278	0.72497	0.1414:0.8586:0.0:0.0	.	128;128	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	I	128	ENSP00000364512:T128I;ENSP00000396939:T128I	ENSP00000364512:T128I	T	+	2	0	G6PC2	169469315	1.000000	0.71417	0.144000	0.22314	0.227000	0.25037	4.334000	0.59291	2.890000	0.99128	0.655000	0.94253	ACC		PASS	0.483	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		45	186	45	186	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171092574	171092574	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:171092574C>G	ENST00000408978.4	+	7	820	c.677C>G	c.(676-678)gCt>gGt	p.A226G	MYO3B_ENST00000409044.3_Missense_Mutation_p.A226G|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.A235G	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.A226G(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGATCACAGCTATTGAACTG	0.498											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ufy.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(676-678)GCT>GGT		myosin IIIB isoform 2							205.0	192.0	196.0					2																	171092574		2007	4182	6189	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171092574C>G		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.677C>G	2.37:g.171092574C>G	ENSP00000386213:p.Ala226Gly		OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1890	MYO3B_uc002ufv.2_Missense_Mutation_p.A213G|MYO3B_uc010fqb.1_Missense_Mutation_p.A213G|MYO3B_uc002ufz.2_Missense_Mutation_p.A226G|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.A213G	p.A226G	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			7	820	+			226			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.677C>G	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.226725|5.226725	0.95173|0.95173	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231|ENST00000442690	T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.048923|.	0.85682|.	D|.	0.000000|.	T|T	0.81640|0.81640	0.4865|0.4865	M|M	0.79258|0.79258	2.445|2.445	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.55172|.	0.963;0.97;0.962;0.97|.	P;D;P;D|.	0.65573|.	0.779;0.936;0.727;0.936|.	T|T	0.80460|0.80460	-0.1373|-0.1373	10|5	0.59425|.	D|.	0.04|.	.|.	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	226;226;226;226|.	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4|.	.;.;.;MYO3B_HUMAN|.	G|R	226;226;225;235;235|225	ENSP00000386497:A226G;ENSP00000386213:A226G;ENSP00000446237:A235G;ENSP00000335100:A235G|.	ENSP00000314213:A225G|.	A|S	+|+	2|3	0|2	MYO3B|MYO3B	170800820|170800820	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCT|AGC		PASS	0.498	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			22	152	22	152	---	---	---	---
ATF2	1386	broad.mit.edu	37	2	175978775	175978775	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:175978775C>A	ENST00000264110.2	-	9	986	c.688G>T	c.(688-690)Gct>Tct	p.A230S	ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.A172S|ATF2_ENST00000487334.2_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000538946.1_Missense_Mutation_p.A212S|ATF2_ENST00000426833.3_Missense_Mutation_p.A212S|ATF2_ENST00000392544.1_Missense_Mutation_p.A230S|ATF2_ENST00000409635.1_Missense_Mutation_p.A172S|ATF2_ENST00000409437.1_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	230					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)	p.A230S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	GCAGGAATAGCAACAGGCATG	0.373																																					Pancreas(17;87 705 4534 15538 30988)	uc002ujl.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|pancreas(1)	3						c.(688-690)GCT>TCT		activating transcription factor 2							144.0	154.0	151.0					2																	175978775		2203	4300	6503	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175978775C>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.688G>T	2.37:g.175978775C>A	ENSP00000264110:p.Ala230Ser					ATF2_uc010fqv.2_Missense_Mutation_p.A181S|ATF2_uc002ujv.2_Intron|ATF2_uc002ujm.2_Missense_Mutation_p.A172S|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.A230S|ATF2_uc002ujr.2_Intron|ATF2_uc010fqu.2_Missense_Mutation_p.A212S|ATF2_uc002ujs.2_Missense_Mutation_p.A172S|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Missense_Mutation_p.A172S|ATF2_uc002ujx.1_RNA	p.A230S	NM_001880	NP_001871	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		9	950	-			230					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.688G>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283427	0.59867	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000437522	T;T;T;T;T;T	0.75477	-0.94;0.65;0.65;-0.94;-0.93;-0.5	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	L	0.38175	1.15	0.80722	D	1	P;D;D;P	0.63046	0.455;0.992;0.983;0.455	B;P;P;B	0.58660	0.063;0.843;0.771;0.063	T	0.69049	-0.5248	10	0.07990	T	0.79	-6.1349	19.9462	0.97183	0.0:1.0:0.0:0.0	.	212;207;172;230	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	S	230;172;207;172;230;212;212;172	ENSP00000264110:A230S;ENSP00000340576:A172S;ENSP00000387093:A172S;ENSP00000376327:A230S;ENSP00000407911:A212S;ENSP00000437952:A212S	ENSP00000264110:A230S	A	-	1	0	ATF2	175687021	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.530000	0.67141	2.717000	0.92951	0.585000	0.79938	GCT		PASS	0.373	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		42	197	42	197	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179408165	179408165	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:179408165C>A	ENST00000591111.1	-	297	91836	c.91612G>T	c.(91612-91614)Gtg>Ttg	p.V30538L	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23306L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23239L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29611L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23114L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32179L|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30538	Fibronectin type-III 122. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.V29611L(1)|p.V29609L(1)|p.V23239L(1)|p.V23114L(1)|p.V23306L(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)			TCTGGCAGCACTCTGAAATAG	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.(88831-88833)GTG>TTG		titin isoform N2-A							88.0	80.0	82.0					2																	179408165		1877	4121	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408165C>A	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.91612G>T	2.37:g.179408165C>A	ENSP00000465570:p.Val30538Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V23306L|TTN_uc010zfi.1_Missense_Mutation_p.V23239L|TTN_uc010zfj.1_Missense_Mutation_p.V23114L	p.V29611L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		296	89055	-			30538					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.88831G>T		.	.	.	.	.	.	.	.	.	.	C	16.26	3.072957	0.55646	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88470	0.6445	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.63046	0.992;0.992;0.992;0.992	D;D;D;D	0.74674	0.984;0.984;0.984;0.984	D	0.90382	0.4389	9	0.87932	D	0	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	23114;23239;23306;30538	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	29611;23114;23306;23239;23111	ENSP00000343764:V29611L;ENSP00000434586:V23114L;ENSP00000340554:V23306L;ENSP00000352154:V23239L	ENSP00000340554:V23306L	V	-	1	0	TTN	179116411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	GTG		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	59	3	59	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179456221	179456221	+	Silent	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:179456221G>C	ENST00000591111.1	-	254	55532	c.55308C>G	c.(55306-55308)tcC>tcG	p.S18436S	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.S11204S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.S11137S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.S17509S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.S11012S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.S20077S|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18436	Ig-like 106.				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.S17507S(1)|p.S11012S(1)|p.S11204S(1)|p.S11137S(1)|p.S17509S(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)			CTAGCTCCACGGATGGAGGCA	0.353																																						uc010zfg.1																			5	Substitution - coding silent(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.(52525-52527)TCC>TCG		titin isoform N2-A							142.0	138.0	139.0					2																	179456221		1862	4089	5951	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456221G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55308C>G	2.37:g.179456221G>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S11204S|TTN_uc010zfi.1_Silent_p.S11137S|TTN_uc010zfj.1_Silent_p.S11012S	p.S17509S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	52751	-			18436					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.52527C>G																																																																																					PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	198	53	198	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179470363	179470363	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:179470363G>A	ENST00000591111.1	-	229	48960	c.48736C>T	c.(48736-48738)Cgc>Tgc	p.R16246C	TTN_ENST00000342175.6_Missense_Mutation_p.R9014C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8947C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15319C|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8822C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R17887C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16246	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R15319C(2)|p.R8947C(1)|p.R9014C(1)|p.R8822C(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)			CCATTACTGCGGGGCTCTTTC	0.473																																						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.(45955-45957)CGC>TGC		titin isoform N2-A							112.0	108.0	110.0					2																	179470363		1933	4121	6054	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179470363G>A	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.48736C>T	2.37:g.179470363G>A	ENSP00000465570:p.Arg16246Cys					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9014C|TTN_uc010zfi.1_Missense_Mutation_p.R8947C|TTN_uc010zfj.1_Missense_Mutation_p.R8822C	p.R15319C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		228	46179	-			16246					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.45955C>T		.	.	.	.	.	.	.	.	.	.	G	14.86	2.662621	0.47572	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.33	5.33	0.75918	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75903	0.3913	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78265	-0.2271	9	0.87932	D	0	.	19.0493	0.93036	0.0:0.0:1.0:0.0	.	8822;8947;9014;16246	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	15319;8822;9014;8947;8822	ENSP00000343764:R15319C;ENSP00000434586:R8822C;ENSP00000340554:R9014C;ENSP00000352154:R8947C	ENSP00000340554:R9014C	R	-	1	0	TTN	179178608	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.908000	0.87438	2.490000	0.84030	0.655000	0.94253	CGC		PASS	0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		57	74	57	74	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179576040	179576040	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:179576040C>G	ENST00000591111.1	-	95	27196	c.26972G>C	c.(26971-26973)aGa>aCa	p.R8991T	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8064T|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R9308T|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13130	Ig-like 73.				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.R8064T(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)			TTGAACATCTCTCAATTGTCG	0.363																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	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.(24190-24192)AGA>ACA		titin isoform N2-A							92.0	89.0	90.0					2																	179576040		1851	4087	5938	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576040C>G	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.26972G>C	2.37:g.179576040C>G	ENSP00000465570:p.Arg8991Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4725T	p.R8064T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		94	24415	-			8991					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.24191G>C		.	.	.	.	.	.	.	.	.	.	C	13.17	2.158711	0.38119	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54029	0.1833	N	0.21508	0.67	0.80722	D	1	B	0.14438	0.01	B	0.16289	0.015	T	0.52719	-0.8538	9	0.87932	D	0	.	13.2544	0.60070	0.0:0.9272:0.0:0.0728	.	8991	Q8WZ42	TITIN_HUMAN	T	8064	ENSP00000343764:R8064T	ENSP00000343764:R8064T	R	-	2	0	TTN	179284285	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.044000	0.49830	2.795000	0.96236	0.655000	0.94253	AGA		PASS	0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	74	63	74	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179576683	179576683	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:179576683G>T	ENST00000591111.1	-	94	27147	c.26923C>A	c.(26923-26925)Ctt>Att	p.L8975I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8048I|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L9292I|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13116	Ig-like 72.				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.L8048I(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)			TGAACGGTAAGGAAAGTTGAT	0.353																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	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.(24142-24144)CTT>ATT		titin isoform N2-A							97.0	97.0	97.0					2																	179576683		1836	4088	5924	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576683G>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.26923C>A	2.37:g.179576683G>T	ENSP00000465570:p.Leu8975Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L4709I	p.L8048I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		93	24366	-			8975					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.24142C>A		.	.	.	.	.	.	.	.	.	.	G	10.45	1.352478	0.24512	.	.	ENSG00000155657	ENST00000342992	T	0.61742	0.08	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.76385	0.3980	M	0.83953	2.67	0.80722	D	1	D	0.63046	0.992	P	0.58077	0.832	T	0.79470	-0.1790	9	0.87932	D	0	.	20.0114	0.97452	0.0:0.0:1.0:0.0	.	8975	Q8WZ42	TITIN_HUMAN	I	8048	ENSP00000343764:L8048I	ENSP00000343764:L8048I	L	-	1	0	TTN	179284928	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	2.981000	0.49329	2.795000	0.96236	0.655000	0.94253	CTT		PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		65	100	65	100	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185803160	185803160	+	Missense_Mutation	SNP	A	A	G	rs142034505	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:185803160A>G	ENST00000302277.6	+	4	3631	c.3037A>G	c.(3037-3039)Agt>Ggt	p.S1013G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1013							metal ion binding (GO:0046872)	p.S1013G(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGCACATGTCAGTGGTCATAC	0.403																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3037-3039)AGT>GGT		zinc finger protein 804A							102.0	96.0	98.0					2																	185803160		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803160A>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3037A>G	2.37:g.185803160A>G	ENSP00000303252:p.Ser1013Gly						p.S1013G	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3631	+			1013					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3037A>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.916662	0.33815	.	.	ENSG00000170396	ENST00000302277	T	0.06528	3.29	5.29	4.14	0.48551	.	0.111526	0.40222	N	0.001144	T	0.06735	0.0172	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.26360	-1.0105	10	0.59425	D	0.04	-14.6966	8.6919	0.34271	0.914:0.0:0.086:0.0	.	1013	Q7Z570	Z804A_HUMAN	G	1013	ENSP00000303252:S1013G	ENSP00000303252:S1013G	S	+	1	0	ZNF804A	185511405	0.395000	0.25254	0.842000	0.33263	0.445000	0.32107	2.777000	0.47717	0.860000	0.35481	0.383000	0.25322	AGT		PASS	0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		38	54	38	54	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189923185	189923185	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:189923185C>G	ENST00000374866.3	-	33	2473	c.2199G>C	c.(2197-2199)atG>atC	p.M733I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	733					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.M733I(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GTCCTCCAGCCATTCCCTTCT	0.433																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2197-2199)ATG>ATC		alpha 2 type V collagen preproprotein							120.0	112.0	115.0					2																	189923185		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189923185C>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2199G>C	2.37:g.189923185C>G	ENSP00000364000:p.Met733Ile					COL5A2_uc010frx.2_Missense_Mutation_p.M309I	p.M733I	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		33	2474	-			733					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2199G>C	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721271	0.48728	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.91295	-2.82	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000003	T	0.75213	0.3819	N	0.00746	-1.225	0.51482	D	0.999922	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.72147	-0.4378	9	.	.	.	.	19.8965	0.96963	0.0:1.0:0.0:0.0	.	373;733	Q5PR22;P05997	.;CO5A2_HUMAN	I	733;373	ENSP00000364000:M733I	.	M	-	3	0	COL5A2	189631430	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.550000	0.45811	2.771000	0.95319	0.563000	0.77884	ATG		PASS	0.433	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		41	62	41	62	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197184491	197184491	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:197184491C>A	ENST00000260983.3	-	9	1305	c.1123G>T	c.(1123-1125)Gac>Tac	p.D375Y	HECW2_ENST00000409111.1_Missense_Mutation_p.D19Y	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	375					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.D375Y(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCAGCACTGTCCTCAGAAACT	0.522																																						uc002utm.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1123-1125)GAC>TAC		HECT, C2 and WW domain containing E3 ubiquitin							97.0	87.0	91.0					2																	197184491		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184491C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1123G>T	2.37:g.197184491C>A	ENSP00000260983:p.Asp375Tyr					HECW2_uc002utl.1_Missense_Mutation_p.D19Y	p.D375Y	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1306	-			375					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1123G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152491	0.38021	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.34859	1.34;1.38	5.65	5.65	0.86999	.	0.847555	0.10279	N	0.693738	T	0.29945	0.0749	N	0.14661	0.345	0.46609	D	0.999122	P	0.36789	0.57	B	0.36885	0.235	T	0.30119	-0.9989	10	0.72032	D	0.01	.	18.0832	0.89449	0.0:1.0:0.0:0.0	.	375	Q9P2P5	HECW2_HUMAN	Y	19;375	ENSP00000386775:D19Y;ENSP00000260983:D375Y	ENSP00000260983:D375Y	D	-	1	0	HECW2	196892736	1.000000	0.71417	0.996000	0.52242	0.269000	0.26545	2.739000	0.47409	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.522	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		35	47	35	47	---	---	---	---
CYP20A1	57404	broad.mit.edu	37	2	204116832	204116832	+	Splice_Site	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:204116832G>T	ENST00000356079.4	+	4	555	c.432G>T	c.(430-432)aaG>aaT	p.K144N	CYP20A1_ENST00000429815.2_Splice_Site_p.K144N|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	144						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.K144N(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TCCTCCTAAAGGTAAGGTGAT	0.353																																						uc002uzv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)AAG>AAT		cytochrome P450, family 20, subfamily A,							108.0	94.0	99.0					2																	204116832		2203	4300	6503	SO:0001630	splice_region_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204116832G>T	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.432+1G>T	2.37:g.204116832G>T						CYP20A1_uc002uzx.3_Missense_Mutation_p.K42N|CYP20A1_uc010zif.1_Missense_Mutation_p.K144N|CYP20A1_uc002uzy.3_Missense_Mutation_p.K42N|CYP20A1_uc002uzw.3_RNA	p.K144N	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN			4	1054	+			144					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.432G>T	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591383	0.66219	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815;ENST00000443941	T;T;T	0.69561	-0.41;-0.41;-0.41	5.52	5.52	0.82312	.	0.101533	0.64402	D	0.000003	T	0.72590	0.3479	M	0.63843	1.955	0.58432	D	0.999999	B;P	0.42161	0.056;0.772	B;P	0.46299	0.086;0.511	T	0.73714	-0.3896	10	0.51188	T	0.08	-8.2248	19.4346	0.94786	0.0:0.0:1.0:0.0	.	144;144	E9PHG5;Q6UW02	.;CP20A_HUMAN	N	144	ENSP00000348380:K144N;ENSP00000407860:K144N;ENSP00000411341:K144N	ENSP00000348380:K144N	K	+	3	2	CYP20A1	203825077	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	6.839000	0.75364	2.605000	0.88082	0.655000	0.94253	AAG		PASS	0.353	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674	Missense_Mutation	27	32	27	32	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447576	226447576	+	Silent	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:226447576G>C	ENST00000272907.6	+	4	1856	c.1443G>C	c.(1441-1443)tcG>tcC	p.S481S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	481					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.S481S(1)									GACCCGTGTCGCAAGATGGGG	0.667																																						uc002voe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1441-1443)TCG>TCC		hypothetical protein LOC57624							35.0	39.0	38.0					2																	226447576		1988	4167	6155	SO:0001819	synonymous_variant	57624							g.chr2:226447576G>C	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1443G>C	2.37:g.226447576G>C						KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S251S	p.S481S	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1618	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	481					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.1443G>C	CCDS46529.1																																																																																				PASS	0.667	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		5	50	5	50	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234343507	234343507	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:234343507G>T	ENST00000264057.2	+	5	558	c.546G>T	c.(544-546)gaG>gaT	p.E182D	DGKD_ENST00000409813.3_Missense_Mutation_p.E138D	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	182					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E182D(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGTGCCGTGAGGCTCTGTCTG	0.562																																						uc002vui.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(544-546)GAG>GAT		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						194.0	167.0	176.0					2																	234343507		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234343507G>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.546G>T	2.37:g.234343507G>T	ENSP00000264057:p.Glu182Asp					DGKD_uc002vuj.1_Missense_Mutation_p.E138D|DGKD_uc010fyh.1_Missense_Mutation_p.E49D|DGKD_uc002vuk.1_Missense_Mutation_p.E49D	p.E182D	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	5	558	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	182			Phorbol-ester/DAG-type 1.		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.546G>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170749	0.38315	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	D;D;D	0.93659	-3.26;-3.26;-3.26	4.92	3.78	0.43462	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.070729	0.56097	D	0.000035	D	0.88559	0.6469	N	0.25789	0.76	0.47009	D	0.999286	B;B;B;B	0.31581	0.329;0.157;0.037;0.02	B;B;B;B	0.38803	0.168;0.282;0.024;0.033	D	0.85197	0.1013	10	0.46703	T	0.11	.	8.1951	0.31392	0.2957:0.0:0.7043:0.0	.	66;118;138;182	Q53SE4;C9JY42;Q16760-2;Q16760	.;.;.;DGKD_HUMAN	D	182;118;152;138	ENSP00000264057:E182D;ENSP00000407938:E118D;ENSP00000386455:E138D	ENSP00000264057:E182D	E	+	3	2	DGKD	234008246	1.000000	0.71417	0.970000	0.41538	0.913000	0.54294	0.643000	0.24750	1.097000	0.41459	0.563000	0.77884	GAG		PASS	0.562	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		38	158	38	158	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234357911	234357911	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr2:234357911G>A	ENST00000264057.2	+	15	1789	c.1777G>A	c.(1777-1779)Gca>Aca	p.A593T	DGKD_ENST00000409813.3_Missense_Mutation_p.A549T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	593					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A593T(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCGCTTGGTGGCATCAGCTTG	0.607																																						uc002vui.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(1777-1779)GCA>ACA		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						60.0	64.0	63.0					2																	234357911		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234357911G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1777G>A	2.37:g.234357911G>A	ENSP00000264057:p.Ala593Thr					DGKD_uc002vuj.1_Missense_Mutation_p.A549T|DGKD_uc010fyh.1_Missense_Mutation_p.A460T|DGKD_uc010fyi.1_RNA	p.A593T	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	15	1789	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	593					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.1777G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	9.097	1.003160	0.19121	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79454	-1.1;-1.27	4.18	4.18	0.49190	.	0.319686	0.30260	N	0.010023	T	0.63850	0.2546	N	0.19112	0.55	0.26405	N	0.976363	B;B;B	0.12013	0.005;0.001;0.001	B;B;B	0.17098	0.017;0.003;0.004	T	0.43343	-0.9397	10	0.16420	T	0.52	.	15.9467	0.79799	0.0:0.0:1.0:0.0	.	477;549;593	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	T	593;549	ENSP00000264057:A593T;ENSP00000386455:A549T	ENSP00000264057:A593T	A	+	1	0	DGKD	234022650	1.000000	0.71417	0.663000	0.29738	0.086000	0.17979	4.401000	0.59716	2.640000	0.89533	0.655000	0.94253	GCA		PASS	0.607	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		18	54	18	54	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35785334	35785334	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:35785334C>G	ENST00000187397.4	+	18	2365	c.1909C>G	c.(1909-1911)Cct>Gct	p.P637A	ARPP21_ENST00000458225.1_Missense_Mutation_p.P638A|ARPP21_ENST00000337271.5_Missense_Mutation_p.P618A|ARPP21_ENST00000444190.1_Missense_Mutation_p.P618A|ARPP21_ENST00000417925.1_Missense_Mutation_p.P638A|MIR128-2_ENST00000384893.1_RNA	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	637	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.P637A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCCACAGATGCCTGTATATTA	0.413																																						uc003cgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1909-1911)CCT>GCT		cyclic AMP-regulated phosphoprotein, 21 kD							113.0	111.0	111.0					3																	35785334		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35785334C>G	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1909C>G	3.37:g.35785334C>G	ENSP00000187397:p.Pro637Ala					ARPP21_uc003cga.2_Missense_Mutation_p.P618A|ARPP21_uc011axy.1_Missense_Mutation_p.P638A|ARPP21_uc003cgf.2_Missense_Mutation_p.P473A|ARPP21_uc003cgg.2_Missense_Mutation_p.P160A|uc011axz.1_5'Flank|MIR128-2_hsa-mir-128-2|MI0000727_5'Flank	p.P637A	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			18	2173	+			637			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1909C>G	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152239	0.38021	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.82	0.952	0.19584	.	0.332375	0.31472	N	0.007597	T	0.43299	0.1241	M	0.66939	2.045	0.26271	N	0.978424	B;P;B;B	0.39601	0.187;0.68;0.118;0.187	B;B;B;B	0.40101	0.145;0.319;0.069;0.145	T	0.32214	-0.9915	10	0.42905	T	0.14	-1.169	8.4299	0.32750	0.0:0.6189:0.0:0.3811	.	638;160;637;618	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	A	638;618;618;637;638	ENSP00000414351:P638A;ENSP00000337792:P618A;ENSP00000405276:P618A;ENSP00000187397:P637A;ENSP00000412326:P638A	ENSP00000187397:P637A	P	+	1	0	ARPP21	35760338	0.992000	0.36948	0.846000	0.33378	0.906000	0.53458	0.565000	0.23578	0.084000	0.17077	0.655000	0.94253	CCT		PASS	0.413	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		18	36	18	36	---	---	---	---
SLC25A38	54977	broad.mit.edu	37	3	39431939	39431939	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:39431939G>T	ENST00000273158.4	+	3	594	c.217G>T	c.(217-219)Gta>Tta	p.V73L		NM_017875.2	NP_060345.2			solute carrier family 25, member 38									p.V73L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GATGTTGGCTGTACTCTTGAA	0.483																																						uc003cjo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)GTA>TTA		solute carrier family 25, member 38							269.0	248.0	255.0					3																	39431939		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39431939G>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.217G>T	3.37:g.39431939G>T	ENSP00000273158:p.Val73Leu						p.V73L	NM_017875	NP_060345	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	3	618	+			73			Solcar 1.			Missense_Mutation	SNP	ENST00000273158.4	37	c.217G>T	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	g	7.741	0.701237	0.15172	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.79845	-1.31;-1.31	4.99	-3.73	0.04398	Mitochondrial carrier domain (2);	0.636882	0.15687	N	0.249619	T	0.63343	0.2503	L	0.37507	1.11	0.09310	N	0.999998	B	0.06786	0.001	B	0.12156	0.007	T	0.47209	-0.9135	10	0.25751	T	0.34	-0.7626	5.0552	0.14529	0.1746:0.5112:0.2133:0.1009	.	73	Q96DW6	S2538_HUMAN	L	73;69	ENSP00000273158:V73L;ENSP00000394244:V69L	ENSP00000273158:V73L	V	+	1	0	SLC25A38	39406943	0.003000	0.15002	0.053000	0.19242	0.644000	0.38419	-0.076000	0.11412	-0.359000	0.08150	-0.893000	0.02921	GTA		PASS	0.483	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		61	68	61	68	---	---	---	---
CDCP1	64866	broad.mit.edu	37	3	45132936	45132936	+	Silent	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:45132936C>A	ENST00000296129.1	-	7	1856	c.1722G>T	c.(1720-1722)gtG>gtT	p.V574V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	574						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V574V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TGTTCCAGGACACAGAGGTGA	0.602																																						uc003com.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1720-1722)GTG>GTT		CUB domain-containing protein 1 isoform 1							21.0	21.0	21.0					3																	45132936		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45132936C>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1722G>T	3.37:g.45132936C>A							p.V574V	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	7	1857	-			574			Extracellular (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.1722G>T	CCDS2727.1																																																																																				PASS	0.602	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		14	11	14	11	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52556921	52556921	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:52556921C>T	ENST00000321725.6	+	62	6951	c.6875C>T	c.(6874-6876)tCa>tTa	p.S2292L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2292	Link. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.S2292L(2)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGAACCTCTCAGAACGCTGG	0.617																																						uc003dej.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(6874-6876)TCA>TTA		stabilin 1 precursor							83.0	88.0	86.0					3																	52556921		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556921C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6875C>T	3.37:g.52556921C>T	ENSP00000312946:p.Ser2292Leu					STAB1_uc003dek.1_Missense_Mutation_p.S307L|STAB1_uc003del.2_Missense_Mutation_p.S179L	p.S2292L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	62	6949	+			2292			Extracellular (Potential).|Link.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6875C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	c	12.10	1.835504	0.32421	.	.	ENSG00000010327	ENST00000321725	T	0.33438	1.41	5.75	3.88	0.44766	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.299970	0.32459	N	0.006069	T	0.27027	0.0662	L	0.50993	1.605	0.09310	N	0.999997	P;B	0.40250	0.709;0.288	B;B	0.42593	0.392;0.205	T	0.20140	-1.0284	10	0.51188	T	0.08	.	4.5429	0.12067	0.1403:0.5788:0.1979:0.083	.	179;2292	B3KSK0;Q9NY15	.;STAB1_HUMAN	L	2292	ENSP00000312946:S2292L	ENSP00000312946:S2292L	S	+	2	0	STAB1	52531961	0.287000	0.24315	0.246000	0.24233	0.445000	0.32107	0.966000	0.29331	2.720000	0.93068	0.486000	0.48141	TCA		PASS	0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		37	27	37	27	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64524911	64524911	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:64524911C>A	ENST00000498707.1	-	37	5923	c.5581G>T	c.(5581-5583)Ggg>Tgg	p.G1861W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1833W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1861	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G1861W(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TAGCAATCCCCGGCTGTGGCA	0.572																																						uc003dmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(5581-5583)GGG>TGG		ADAM metallopeptidase with thrombospondin type 1							115.0	103.0	107.0					3																	64524911		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64524911C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5581G>T	3.37:g.64524911C>A	ENSP00000418735:p.Gly1861Trp					ADAMTS9_uc011bfo.1_Missense_Mutation_p.G1833W|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G772W	p.G1861W	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	37	5613	-		Lung NSC(201;0.00682)	1861			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5581G>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632543	0.87660	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.48836	0.8;0.8	5.62	5.62	0.85841	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79997	-0.1567	10	0.87932	D	0	.	19.6664	0.95894	0.0:1.0:0.0:0.0	.	1833;1861	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	W	1833;1861	ENSP00000295903:G1833W;ENSP00000418735:G1861W	ENSP00000295903:G1833W	G	-	1	0	ADAMTS9	64499951	1.000000	0.71417	0.979000	0.43373	0.974000	0.67602	7.076000	0.76806	2.646000	0.89796	0.585000	0.79938	GGG		PASS	0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			14	17	14	17	---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806366	97806366	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:97806366T>C	ENST00000358642.2	+	1	350	c.350T>C	c.(349-351)cTg>cCg	p.L117P		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	117					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.L117P(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGCTTCCTCCTGGTGATGATG	0.433																																						uc011bgs.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(349-351)CTG>CCG		olfactory receptor, family 5, subfamily AC,							189.0	175.0	179.0					3																	97806366		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806366T>C	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.350T>C	3.37:g.97806366T>C	ENSP00000351466:p.Leu117Pro						p.L117P	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	350	+			117			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000358642.2	37	c.350T>C	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996125	0.54147	.	.	ENSG00000196578	ENST00000358642	T	0.02345	4.33	5.29	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29159	U	0.012980	T	0.23649	0.0572	H	0.97540	4.025	0.20563	N	0.999882	D	0.89917	1.0	D	0.91635	0.999	T	0.36114	-0.9761	10	0.87932	D	0	-15.466	9.9089	0.41392	0.1527:0.0:0.0:0.8473	.	117	Q9NZP5	O5AC2_HUMAN	P	117	ENSP00000351466:L117P	ENSP00000351466:L117P	L	+	2	0	OR5AC2	99289056	0.960000	0.32886	0.672000	0.29872	0.579000	0.36224	7.494000	0.81503	0.859000	0.35456	0.481000	0.45027	CTG		PASS	0.433	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			73	213	73	213	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868387	97868387	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:97868387C>T	ENST00000437310.1	+	1	218	c.158C>T	c.(157-159)cCt>cTt	p.P53L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P53L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGAAAGACCCTCATCTTCAT	0.418																																						uc003dsg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(157-159)CCT>CTT		olfactory receptor, family 5, subfamily H,							336.0	339.0	338.0					3																	97868387		2203	4300	6503	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868387C>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.158C>T	3.37:g.97868387C>T	ENSP00000401706:p.Pro53Leu						p.P53L	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	158	+			53			Cytoplasmic (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.158C>T	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	5.320	0.244374	0.10077	.	.	ENSG00000236032	ENST00000437310	T	0.04015	3.73	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.532611	0.15865	N	0.240847	T	0.07143	0.0181	M	0.62266	1.93	0.09310	N	1	B	0.17852	0.024	B	0.18263	0.021	T	0.15838	-1.0423	10	0.46703	T	0.11	.	10.6214	0.45483	0.0:1.0:0.0:0.0	.	53	A6NHG9	O5H14_HUMAN	L	53	ENSP00000401706:P53L	ENSP00000401706:P53L	P	+	2	0	OR5H14	99351077	0.000000	0.05858	0.989000	0.46669	0.275000	0.26752	0.013000	0.13310	1.380000	0.46344	0.195000	0.17529	CCT		PASS	0.418	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			91	371	91	371	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109050762	109050762	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:109050762G>T	ENST00000335658.6	-	3	349	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	99					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L99M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CAGGCCCGCAGAATGTCCCGG	0.537																																						uc003dxq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(295-297)CTG>ATG		developmental pluripotency associated 4							144.0	142.0	142.0					3																	109050762		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109050762G>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.295C>A	3.37:g.109050762G>T	ENSP00000335306:p.Leu99Met					DPPA4_uc011bho.1_Missense_Mutation_p.L99M|DPPA4_uc011bhp.1_Missense_Mutation_p.L99M	p.L99M	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			3	350	-			99					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.295C>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897661	0.52121	.	.	ENSG00000121570	ENST00000335658	T	0.57595	0.39	4.76	-6.81	0.01704	.	1.082370	0.07195	N	0.856369	T	0.46560	0.1399	L	0.36672	1.1	0.09310	N	1	D;P;P	0.57899	0.981;0.948;0.883	P;P;P	0.55161	0.77;0.718;0.621	T	0.49214	-0.8963	9	.	.	.	-3.6496	5.3029	0.15788	0.2721:0.1528:0.488:0.0871	.	89;99;99	B7Z5Q7;B7Z595;Q7L190	.;.;DPPA4_HUMAN	M	99	ENSP00000335306:L99M	.	L	-	1	2	DPPA4	110533452	0.000000	0.05858	0.001000	0.08648	0.125000	0.20455	-2.301000	0.01137	-0.991000	0.03476	-0.153000	0.13522	CTG		PASS	0.537	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		7	173	7	173	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112358517	112358517	+	Missense_Mutation	SNP	C	C	A	rs139180030	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:112358517C>A	ENST00000206423.3	-	2	1189	c.236G>T	c.(235-237)aGt>aTt	p.S79I	CCDC80_ENST00000439685.2_Missense_Mutation_p.S79I|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	79					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.S79I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CACGGGCACACTCCTCCTTCT	0.612																																						uc003dzf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(235-237)AGT>ATT		steroid-sensitive protein 1 precursor							79.0	74.0	76.0					3																	112358517		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358517C>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.236G>T	3.37:g.112358517C>A	ENSP00000206423:p.Ser79Ile					CCDC80_uc011bhv.1_Missense_Mutation_p.S79I|CCDC80_uc003dzg.2_Missense_Mutation_p.S79I|CCDC80_uc003dzh.1_Missense_Mutation_p.S79I	p.S79I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	454	-			79					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.236G>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843754	0.51164	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.48522	0.81;0.81	5.35	1.17	0.20885	.	1.042500	0.07472	N	0.902406	T	0.29882	0.0747	N	0.19112	0.55	0.09310	N	1	B;B;B	0.22414	0.069;0.041;0.041	B;B;B	0.24394	0.053;0.024;0.024	T	0.35201	-0.9798	10	0.87932	D	0	-0.1445	1.4224	0.02315	0.1228:0.3887:0.2097:0.2789	.	90;79;79	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	I	79	ENSP00000206423:S79I;ENSP00000411814:S79I	ENSP00000206423:S79I	S	-	2	0	CCDC80	113841207	0.000000	0.05858	0.286000	0.24833	0.930000	0.56654	-0.675000	0.05227	0.333000	0.23563	-0.133000	0.14855	AGT		PASS	0.612	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		56	88	56	88	---	---	---	---
PLA1A	51365	broad.mit.edu	37	3	119331936	119331937	+	Nonsense_Mutation	DNP	TC	TC	AA			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:119331936_119331937TC>AA	ENST00000273371.4	+	5	707_708	c.635_636TC>AA	c.(634-636)tTC>tAA	p.F212*	PLA1A_ENST00000495992.1_Nonsense_Mutation_p.F196*|PLA1A_ENST00000488919.1_Nonsense_Mutation_p.F39*|PLA1A_ENST00000494440.1_Nonsense_Mutation_p.F196*	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	212					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)	p.F212L(1)|p.F212*(1)|p.F212Y(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGCCCTCTTCGTGGAAGCCA	0.599																																						uc003ecu.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(634-636)TTC>TAC|c.(634-636)TTC>TTA		phospholipase A1 member A precursor																																				SO:0001587	stop_gained	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119331936T>A|g.chr3:119331937C>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	Exception_encountered	3.37:g.119331936_119331937delinsAA	ENSP00000273371:p.Phe212*					PLA1A_uc003ecv.2_Missense_Mutation_p.F196Y|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.F39Y|PLA1A_uc003ecv.2_Missense_Mutation_p.F196L|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.F39L	p.F212Y|p.F212L	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			5	674|675	+			212					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.635T>A|c.636C>A	CCDS2991.1																																																																																				PASS	0.599	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			9	18|17	9	17	---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121340661	121340661	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:121340661C>T	ENST00000338040.4	+	3	799	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	129					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L129L(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGACACAGCCCTGGCCCTGCA	0.502																																						uc003eeg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(385-387)CTG>TTG		F-box protein 40							55.0	58.0	57.0					3																	121340661		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340661C>T	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.385C>T	3.37:g.121340661C>T							p.L129L	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	595	+			129					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.385C>T	CCDS33835.1																																																																																				PASS	0.502	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		12	39	12	39	---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122645462	122645462	+	Missense_Mutation	SNP	C	C	A	rs139156063		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:122645462C>A	ENST00000357599.3	-	9	1299	c.913G>T	c.(913-915)Gca>Tca	p.A305S	SEMA5B_ENST00000195173.4_Missense_Mutation_p.A305S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A359S|AC078794.1_ENST00000408284.1_RNA	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	305	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A305S(1)|p.A359S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCTCCACTGCGTTCTCCCGC	0.607																																						uc003efz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(913-915)GCA>TCA		semaphorin 5B isoform 1							68.0	55.0	59.0					3																	122645462		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122645462C>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.913G>T	3.37:g.122645462C>A	ENSP00000350215:p.Ala305Ser					SEMA5B_uc011bju.1_Missense_Mutation_p.A247S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A305S|SEMA5B_uc010hro.1_Missense_Mutation_p.A247S|SEMA5B_uc010hrp.1_RNA	p.A305S	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	9	1217	-			305			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.913G>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336866	0.95758	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	4.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.53780	1.695	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.994	D;D;D	0.65773	0.929;0.938;0.938	T	0.02385	-1.1167	10	0.62326	D	0.03	.	16.8049	0.85623	0.0:1.0:0.0:0.0	.	247;305;305	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	S	305;305;247;359;305	ENSP00000350215:A305S;ENSP00000195173:A305S;ENSP00000389588:A359S;ENSP00000377208:A305S	ENSP00000195173:A305S	A	-	1	0	SEMA5B	124128152	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.339000	0.79282	2.433000	0.82419	0.650000	0.86243	GCA		PASS	0.607	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		12	38	12	38	---	---	---	---
ROPN1B	152015	broad.mit.edu	37	3	125701208	125701208	+	Silent	SNP	C	C	T	rs373763214		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:125701208C>T	ENST00000514116.1	+	6	807	c.492C>T	c.(490-492)ctC>ctT	p.L164L	ROPN1B_ENST00000251776.4_Silent_p.L164L|ROPN1B_ENST00000511082.1_Silent_p.L72L|ROPN1B_ENST00000505382.1_Silent_p.L72L			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	164					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)	p.L164L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		TCCAGTTTCTCTACACGTATA	0.428																																						uc003eih.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(490-492)CTC>CTT		ropporin, rhophilin associated protein 1B		C		0,4406		0,0,2203	166.0	139.0	148.0		492	1.5	1.0	3		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ROPN1B	NM_001012337.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		164/213	125701208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	152015				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	g.chr3:125701208C>T	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.492C>T	3.37:g.125701208C>T						ROPN1B_uc010hsb.2_Silent_p.L164L|ROPN1B_uc010hsc.2_Silent_p.L72L	p.L164L	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	5	720	+			164					D3DNA6|Q96BM7	Silent	SNP	ENST00000514116.1	37	c.492C>T	CCDS33841.1																																																																																				PASS	0.428	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		26	106	26	106	---	---	---	---
GATA2	2624	broad.mit.edu	37	3	128199973	128199973	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:128199973C>T	ENST00000341105.2	-	6	1663	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.P444P|GATA2_ENST00000430265.2_Silent_p.P430P	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	444					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P444P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGCTGAAGGGCGGGAGGTGGC	0.657			Mis		AML(CML blast transformation)																																	uc003ekm.3				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15						c.(1330-1332)CCG>CCA		GATA binding protein 2 isoform 1							97.0	87.0	91.0					3																	128199973		2203	4300	6503	SO:0001819	synonymous_variant	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128199973C>T	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1332G>A	3.37:g.128199973C>T						GATA2_uc003ekn.3_Silent_p.P430P|GATA2_uc003eko.2_Silent_p.P444P	p.P444P	NM_001145661	NP_001139133	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	7	1767	-			444					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.1332G>A	CCDS3049.1																																																																																				PASS	0.657	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		17	88	17	88	---	---	---	---
IL20RB	53833	broad.mit.edu	37	3	136714254	136714254	+	Splice_Site	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:136714254A>T	ENST00000329582.4	+	6	931		c.e6-1		IL20RB_ENST00000309741.5_Splice_Site	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta						homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)		p.?(2)		kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTGTTTCCAGGAGAGGCCA	0.507																																						uc003eri.1																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e6-2		interleukin 20 receptor beta precursor							164.0	160.0	161.0					3																	136714254		2203	4300	6503	SO:0001630	splice_region_variant	53833					integral to membrane	receptor activity	g.chr3:136714254A>T	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.683-1A>T	3.37:g.136714254A>T						IL20RB_uc003erj.1_Splice_Site|IL20RB_uc010hud.1_Splice_Site_p.G86_splice	p.G228_splice	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN			6	932	+								B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Splice_Site	SNP	ENST00000329582.4	37	c.683_splice	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359642	0.24598	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1871	0.54245	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL20RB	138196944	0.995000	0.38212	0.972000	0.41901	0.035000	0.12851	5.071000	0.64382	2.196000	0.70406	0.533000	0.62120	.		PASS	0.507	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717	Intron	58	170	58	170	---	---	---	---
RBP2	5948	broad.mit.edu	37	3	139195235	139195235	+	Missense_Mutation	SNP	C	C	A	rs147339826		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:139195235C>A	ENST00000232217.2	-	1	123	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	23					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.A23S(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TTACCCAGGGCCTTCATGTAG	0.547																																						uc003eth.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(67-69)GCC>TCC		retinol binding protein 2, cellular	Vitamin A(DB00162)						230.0	186.0	201.0					3																	139195235		2203	4300	6503	SO:0001583	missense	5948				epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	g.chr3:139195235C>A	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.67G>T	3.37:g.139195235C>A	ENSP00000232217:p.Ala23Ser						p.A23S	NM_004164	NP_004155	P50120	RET2_HUMAN			1	118	-			23					A8K7G3|Q6ISQ9|Q6ISS7	Missense_Mutation	SNP	ENST00000232217.2	37	c.67G>T	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780930	0.70222	.	.	ENSG00000114113	ENST00000232217;ENST00000511956;ENST00000506825	T;T	0.08193	3.12;3.12	5.34	5.34	0.76211	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.100250	0.64402	D	0.000002	T	0.25827	0.0629	M	0.68952	2.095	0.80722	D	1	D	0.56287	0.975	D	0.63488	0.915	T	0.00086	-1.2094	10	0.44086	T	0.13	.	16.5562	0.84485	0.0:1.0:0.0:0.0	.	23	P50120	RET2_HUMAN	S	23	ENSP00000232217:A23S;ENSP00000424333:A23S	ENSP00000232217:A23S	A	-	1	0	RBP2	140677925	1.000000	0.71417	0.999000	0.59377	0.429000	0.31625	5.020000	0.64066	2.659000	0.90383	0.563000	0.77884	GCC		PASS	0.547	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164		30	81	30	81	---	---	---	---
PLSCR5	389158	broad.mit.edu	37	3	146311771	146311771	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:146311771T>A	ENST00000443512.1	-	4	1392	c.389A>T	c.(388-390)gAg>gTg	p.E130V	PLSCR5_ENST00000492200.1_Missense_Mutation_p.E130V|PLSCR5_ENST00000482567.1_Missense_Mutation_p.E118V	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	130								p.E130V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TGTAATGACCTCTCGACCTGA	0.458																																						uc003ewb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)GAG>GTG		phospholipid scramblase family, member 5							132.0	131.0	132.0					3																	146311771		1973	4161	6134	SO:0001583	missense	389158							g.chr3:146311771T>A	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.389A>T	3.37:g.146311771T>A	ENSP00000390111:p.Glu130Val					PLSCR5_uc010hvb.2_Missense_Mutation_p.E118V|PLSCR5_uc010hvc.2_Missense_Mutation_p.E130V	p.E130V	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN			4	1393	-			130					B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	37	c.389A>T	CCDS46931.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391107	0.82902	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.25414	1.8;1.8;1.8	5.69	5.69	0.88448	Tubby, C-terminal (1);	.	.	.	.	T	0.65365	0.2684	H	0.96365	3.81	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77830	-0.2442	9	0.87932	D	0	-20.8766	15.9584	0.79906	0.0:0.0:0.0:1.0	.	118;130	B2RXK5;A0PG75	.;PLS5_HUMAN	V	130;118;130	ENSP00000417184:E130V;ENSP00000418626:E118V;ENSP00000390111:E130V	ENSP00000390111:E130V	E	-	2	0	PLSCR5	147794461	1.000000	0.71417	0.983000	0.44433	0.729000	0.41735	7.698000	0.84413	2.165000	0.68154	0.528000	0.53228	GAG		PASS	0.458	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		72	89	72	89	---	---	---	---
CP	1356	broad.mit.edu	37	3	148896347	148896347	+	Silent	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:148896347T>C	ENST00000264613.6	-	16	2995	c.2733A>G	c.(2731-2733)agA>agG	p.R911R		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	911	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.R911R(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCAGTTTCCTTCTGGGATTGA	0.398																																						uc003ewy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2731-2733)AGA>AGG		ceruloplasmin precursor	Drotrecogin alfa(DB00055)						81.0	74.0	76.0					3																	148896347		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148896347T>C	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2733A>G	3.37:g.148896347T>C						CP_uc011bnr.1_RNA|CP_uc003eww.3_Silent_p.R63R|CP_uc003ewx.3_Silent_p.R692R|CP_uc003ewz.2_Silent_p.R911R	p.R911R	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	2986	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	911			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.2733A>G	CCDS3141.1																																																																																				PASS	0.398	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		44	53	44	53	---	---	---	---
P2RY1	5028	broad.mit.edu	37	3	152553673	152553673	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:152553673C>T	ENST00000305097.3	+	1	938	c.102C>T	c.(100-102)gcC>gcT	p.A34A		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	34					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.A34A(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CCTCCACTGCCGCCGTCTCCT	0.627																																						uc003ezq.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(100-102)GCC>GCT		purinergic receptor P2Y1							59.0	54.0	56.0					3																	152553673		2203	4300	6503	SO:0001819	synonymous_variant	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553673C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.102C>T	3.37:g.152553673C>T							p.A34A	NM_002563	NP_002554	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	938	+			34			Extracellular (Potential).			Silent	SNP	ENST00000305097.3	37	c.102C>T	CCDS3169.1																																																																																				PASS	0.627	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		23	116	23	116	---	---	---	---
SERPINI1	5274	broad.mit.edu	37	3	167510476	167510476	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:167510476T>G	ENST00000295777.5	+	4	1011	c.580T>G	c.(580-582)Ttt>Gtt	p.F194V	SERPINI1_ENST00000446050.2_Missense_Mutation_p.F194V	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	194					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F194V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GAAGTCGCAGTTTAGGCCTGA	0.388																																						uc003ffa.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(580-582)TTT>GTT		neuroserpin precursor							111.0	115.0	114.0					3																	167510476		2203	4300	6503	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167510476T>G	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.580T>G	3.37:g.167510476T>G	ENSP00000295777:p.Phe194Val					SERPINI1_uc003ffb.3_Missense_Mutation_p.F194V	p.F194V	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			4	778	+			194					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.580T>G	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.540846	0.85917	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000472747	D;D;D	0.95069	-3.6;-3.6;-3.6	5.68	5.68	0.88126	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99785	1.1029	10	0.87932	D	0	.	15.9242	0.79603	0.0:0.0:0.0:1.0	.	194	Q99574	NEUS_HUMAN	V	194	ENSP00000397373:F194V;ENSP00000295777:F194V;ENSP00000420561:F194V	ENSP00000295777:F194V	F	+	1	0	SERPINI1	168993170	1.000000	0.71417	0.993000	0.49108	0.881000	0.50899	7.696000	0.84270	2.160000	0.67779	0.383000	0.25322	TTT		PASS	0.388	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			40	148	40	148	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169482476	169482476	+	IGR	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:169482476C>T	ENST00000330368.2	-	0	2005				TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											CTCCGTTCCTCTTCCTGCGGC	0.672																																						uc003ffr.1																			0					0								Homo sapiens cDNA clone IMAGE:40002477.							17.0	17.0	17.0					3																	169482476		874	1990	2864	SO:0001628	intergenic_variant	7012	Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic						g.chr3:169482476C>T	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9			3.37:g.169482476C>T								NR_001566						1		-								Q96IS0|Q96NJ0	RNA	SNP	ENST00000330368.2	37	c.373G>A	CCDS3206.1																																																																																				PASS	0.672	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		9	21	9	21	---	---	---	---
MYNN	55892	broad.mit.edu	37	3	169501281	169501281	+	Silent	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:169501281A>T	ENST00000349841.5	+	6	2079	c.1416A>T	c.(1414-1416)atA>atT	p.I472I	MYNN_ENST00000544106.1_Silent_p.I472I|MYNN_ENST00000356716.4_Silent_p.I472I|MYNN_ENST00000392733.1_Silent_p.I472I	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I472I(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AACCATACATATGTGGTATTT	0.323																																						uc003fft.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1414-1416)ATA>ATT		myoneurin							118.0	134.0	128.0					3																	169501281		2203	4300	6503	SO:0001819	synonymous_variant	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169501281A>T	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1416A>T	3.37:g.169501281A>T						MYNN_uc011bpm.1_Silent_p.I358I|MYNN_uc003ffu.2_Silent_p.I472I|MYNN_uc003ffv.2_Silent_p.I199I|MYNN_uc010hwo.2_Silent_p.I472I|MYNN_uc003ffw.1_RNA	p.I472I	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		6	1845	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		472			C2H2-type 7.		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	ENST00000349841.5	37	c.1416A>T	CCDS3207.1																																																																																				PASS	0.323	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		119	216	119	216	---	---	---	---
SLC2A2	6514	broad.mit.edu	37	3	170720438	170720438	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:170720438G>A	ENST00000314251.3	-	8	1074	c.995C>T	c.(994-996)aCg>aTg	p.T332M	SLC2A2_ENST00000382808.4_Missense_Mutation_p.T213M	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	332					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.T332M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	GATACCAGCCGTCTGAAAAAT	0.383																																						uc003fhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(994-996)ACG>ATG		solute carrier family 2 (facilitated glucose							54.0	53.0	53.0					3																	170720438		2202	4300	6502	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170720438G>A	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.995C>T	3.37:g.170720438G>A	ENSP00000323568:p.Thr332Met					SLC2A2_uc003fhf.1_Missense_Mutation_p.T159M|SLC2A2_uc011bpu.1_Missense_Mutation_p.T205M	p.T332M	NM_000340	NP_000331	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		8	1304	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		332			Extracellular (Potential).		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.995C>T	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180479	0.38511	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.76060	-0.99;-0.99	5.15	-0.571	0.11749	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.510995	0.21331	N	0.076294	T	0.54078	0.1836	L	0.35593	1.075	0.09310	N	0.999999	B	0.31989	0.35	B	0.26969	0.075	T	0.39683	-0.9602	10	0.36615	T	0.2	.	5.4293	0.16444	0.0756:0.1082:0.2295:0.5868	.	332	P11168	GTR2_HUMAN	M	332;213	ENSP00000323568:T332M;ENSP00000372258:T213M	ENSP00000323568:T332M	T	-	2	0	SLC2A2	172203132	0.001000	0.12720	0.086000	0.20670	0.785000	0.44390	-0.214000	0.09292	-0.031000	0.13781	-0.302000	0.09304	ACG		PASS	0.383	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		7	48	7	48	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171321028	171321028	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:171321028T>A	ENST00000351298.4	-	27	3191	c.3065A>T	c.(3064-3066)aAg>aTg	p.K1022M	PLD1_ENST00000356327.5_Missense_Mutation_p.K984M|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1022					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.K1022M(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TAATACGGGCTTGTTTATAAA	0.388																																					NSCLC(149;2174 3517 34058)	uc003fhs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(3064-3066)AAG>ATG		phospholipase D1 isoform a	Choline(DB00122)						102.0	100.0	101.0					3																	171321028		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171321028T>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.3065A>T	3.37:g.171321028T>A	ENSP00000342793:p.Lys1022Met					PLD1_uc003fht.2_Missense_Mutation_p.K984M	p.K1022M	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		27	3181	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		1022						Missense_Mutation	SNP	ENST00000351298.4	37	c.3065A>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.609951	0.46527	.	.	ENSG00000075651	ENST00000356327;ENST00000351298	T;T	0.07114	3.23;3.22	6.07	6.07	0.98685	.	0.042369	0.85682	D	0.000000	T	0.21962	0.0529	M	0.87269	2.87	0.80722	D	1	P;P	0.43973	0.732;0.823	B;P	0.47044	0.326;0.535	T	0.01099	-1.1452	10	0.54805	T	0.06	-26.7851	12.2628	0.54660	0.1271:0.0:0.0:0.8729	.	1007;1022	Q59EA4;Q13393	.;PLD1_HUMAN	M	984;1022	ENSP00000348681:K984M;ENSP00000342793:K1022M	ENSP00000342793:K1022M	K	-	2	0	PLD1	172803722	1.000000	0.71417	0.996000	0.52242	0.535000	0.34838	2.583000	0.46094	2.330000	0.79161	0.528000	0.53228	AAG		PASS	0.388	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		21	114	21	114	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173998631	173998631	+	Silent	SNP	G	G	A	rs115881871	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:173998631G>A	ENST00000457714.1	+	7	2439	c.2010G>A	c.(2008-2010)agG>agA	p.R670R	NLGN1_ENST00000361589.4_Silent_p.R670R|NLGN1_ENST00000545397.1_Silent_p.R670R|NLGN1_ENST00000401917.3_Silent_p.R710R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	687					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R670R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGGATCAAAGGGACTACTCAA	0.458													G|||	17	0.00339457	0.0129	0.0	5008	,	,		22240	0.0		0.0	False		,,,				2504	0.0					uc003fio.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2008-2010)AGG>AGA		neuroligin 1		G		49,4357	46.7+/-81.2	1,47,2155	101.0	103.0	102.0		2010	4.8	1.0	3	dbSNP_132	102	0,8598		0,0,4299	no	coding-synonymous	NLGN1	NM_014932.2		1,47,6454	AA,AG,GG		0.0,1.1121,0.3768		670/824	173998631	49,12955	2203	4299	6502	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998631G>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2010G>A	3.37:g.173998631G>A						NLGN1_uc003fip.1_Silent_p.R670R	p.R670R	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2433	+	Ovarian(172;0.0025)		687			Extracellular (Potential).		Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.2010G>A	CCDS3222.1																																																																																				PASS	0.458	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		42	257	42	257	---	---	---	---
NDUFB5	4711	broad.mit.edu	37	3	179322659	179322659	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:179322659C>G	ENST00000259037.3	+	1	170	c.56C>G	c.(55-57)tCt>tGt	p.S19C	MRPL47_ENST00000392659.2_5'Flank|NDUFB5_ENST00000493866.1_Missense_Mutation_p.S19C|MRPL47_ENST00000476781.1_5'Flank|MRPL47_ENST00000259038.2_5'Flank|NDUFB5_ENST00000472629.1_Missense_Mutation_p.S19C	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	19					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.S19C(1)		endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GCAGCTCTGTCTGGCCGGCCC	0.642																																						uc003fkc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(55-57)TCT>TGT		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						32.0	32.0	32.0					3																	179322659		2203	4300	6503	SO:0001583	missense	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179322659C>G	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.56C>G	3.37:g.179322659C>G	ENSP00000259037:p.Ser19Cys					MRPL47_uc003fjz.2_5'Flank|MRPL47_uc003fka.2_5'Flank|MRPL47_uc003fkb.2_5'Flank|NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Missense_Mutation_p.S19C	p.S19C	NM_002492	NP_002483	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		1	85	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		19					Q561V6	Missense_Mutation	SNP	ENST00000259037.3	37	c.56C>G	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.399|7.399	0.632270|0.632270	0.14322|0.14322	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000482604|ENST00000259037;ENST00000493866;ENST00000472629	.|T;T;T	.|0.53857	.|0.85;0.6;0.85	5.75|5.75	1.52|1.52	0.23074|0.23074	.|.	.|0.473992	.|0.18963	.|N	.|0.126326	T|T	0.47673|0.47673	0.1458|0.1458	L|L	0.45581|0.45581	1.43|1.43	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13145	.|0.002;0.007	.|B;B	.|0.15052	.|0.002;0.012	T|T	0.50215|0.50215	-0.8854|-0.8854	6|10	0.45353|0.62326	T|D	0.12|0.03	-8.2193|-8.2193	16.7561|16.7561	0.85499|0.85499	0.0:0.3649:0.635:0.0|0.0:0.3649:0.635:0.0	.|.	.|19;19	.|Q561V6;O43674	.|.;NDUB5_HUMAN	V|C	16|19	.|ENSP00000259037:S19C;ENSP00000419656:S19C;ENSP00000419248:S19C	ENSP00000419099:L11V|ENSP00000259037:S19C	L|S	+|+	1|2	2|0	NDUFB5|NDUFB5	180805353|180805353	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.013000|0.013000	0.08279|0.08279	-0.068000|-0.068000	0.11561|0.11561	0.389000|0.389000	0.25086|0.25086	0.650000|0.650000	0.86243|0.86243	CTG|TCT		PASS	0.642	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		12	63	12	63	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183776353	183776353	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:183776353T>A	ENST00000318351.1	+	6	732	c.698T>A	c.(697-699)cTa>cAa	p.L233Q		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	233					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.L233Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GGCAACAACCTATATGACCAG	0.512																																						uc003fmk.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(697-699)CTA>CAA		5-hydroxytryptamine receptor 3 subunit C							116.0	112.0	114.0					3																	183776353		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183776353T>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.698T>A	3.37:g.183776353T>A	ENSP00000322617:p.Leu233Gln						p.L233Q	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		6	732	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		233			Extracellular (Potential).		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.698T>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	3.975	-0.007535	0.07773	.	.	ENSG00000178084	ENST00000318351	T	0.79454	-1.27	5.13	5.13	0.70059	Neurotransmitter-gated ion-channel ligand-binding (3);	1.070590	0.07148	N	0.848605	T	0.68118	0.2966	N	0.21545	0.675	0.09310	N	1	B	0.20368	0.044	B	0.22601	0.04	T	0.53725	-0.8398	10	0.28530	T	0.3	-1.4435	11.2593	0.49074	0.0:0.0:0.0:1.0	.	233	Q8WXA8	5HT3C_HUMAN	Q	233	ENSP00000322617:L233Q	ENSP00000322617:L233Q	L	+	2	0	HTR3C	185259047	0.002000	0.14202	0.018000	0.16275	0.385000	0.30292	1.341000	0.33907	2.152000	0.67230	0.460000	0.39030	CTA		PASS	0.512	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		40	210	40	210	---	---	---	---
DGKG	1608	broad.mit.edu	37	3	185906145	185906145	+	Silent	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr3:185906145C>A	ENST00000265022.3	-	22	2480	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L	DGKG_ENST00000344484.4_Silent_p.L622L|DGKG_ENST00000382164.4_Silent_p.L608L|DGKG_ENST00000544847.1_Silent_p.L588L	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	647					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.L647L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGATGTTGCTCAGGTCCACCC	0.537																																						uc003fqa.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1939-1941)CTG>CTT		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						129.0	104.0	113.0					3																	185906145		2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185906145C>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1941G>T	3.37:g.185906145C>A						DGKG_uc003fqb.2_Silent_p.L608L|DGKG_uc003fqc.2_Silent_p.L622L|DGKG_uc011brx.1_Silent_p.L588L	p.L647L	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	22	2478	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		647					B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.1941G>T	CCDS3274.1																																																																																				PASS	0.537	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			30	140	30	140	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4228190	4228190	+	Splice_Site	SNP	G	G	T	rs527769643		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr4:4228190G>T	ENST00000296358.4	-	1	426	c.402C>A	c.(400-402)cgC>cgA	p.R134R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	134					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R134R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGACTCACCGCGCAGCCAGC	0.721																																						uc003ghp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(400-402)CGC>CGA		otopetrin 1							3.0	4.0	3.0					4																	4228190		1569	3375	4944	SO:0001630	splice_region_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228190G>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.403+1C>A	4.37:g.4228190G>T							p.R134R	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	432	-			134					A1L476	Silent	SNP	ENST00000296358.4	37	c.402C>A	CCDS3372.1																																																																																				PASS	0.721	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	Silent	4	2	4	2	---	---	---	---
CENPC	1060	broad.mit.edu	37	4	68380252	68380252	+	Silent	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr4:68380252T>C	ENST00000273853.6	-	8	1234	c.984A>G	c.(982-984)aaA>aaG	p.K328K		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	328					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.K328K(1)									TTGTGCGTTGTTTCAGAGACC	0.393																																						uc003hdd.1																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(982-984)AAA>AAG		centromere protein C 1							93.0	85.0	87.0					4																	68380252		1909	4129	6038	SO:0001819	synonymous_variant	1060				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	g.chr4:68380252T>C	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.984A>G	4.37:g.68380252T>C						CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Silent_p.K328K	p.K328K	NM_001812	NP_001803	Q03188	CENPC_HUMAN			8	1167	-			328					Q8IW27|Q9P0M5	Silent	SNP	ENST00000273853.6	37	c.984A>G	CCDS47063.1																																																																																				PASS	0.393	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			16	13	16	13	---	---	---	---
BANK1	55024	broad.mit.edu	37	4	102993502	102993502	+	Splice_Site	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr4:102993502G>T	ENST00000322953.4	+	15	2517	c.2243G>T	c.(2242-2244)gGt>gTt	p.G748V	BANK1_ENST00000428908.1_Splice_Site_p.G615V|BANK1_ENST00000508653.1_Splice_Site_p.G615V|BANK1_ENST00000444316.2_Splice_Site_p.G718V|BANK1_ENST00000504592.1_Splice_Site_p.G733V	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	748					B cell activation (GO:0042113)			p.G748V(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)		GTATTTCTAGGTAAGGAAACT	0.259																																						uc003hvy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2242-2244)GGT>GTT		B-cell scaffold protein with ankyrin repeats 1							98.0	107.0	104.0					4																	102993502		2202	4300	6502	SO:0001630	splice_region_variant	55024				B cell activation			g.chr4:102993502G>T	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.2243-1G>T	4.37:g.102993502G>T						BANK1_uc003hvx.3_Missense_Mutation_p.G733V|BANK1_uc010ill.2_Missense_Mutation_p.G615V|BANK1_uc003hvz.3_Missense_Mutation_p.G718V	p.G748V	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	15	2517	+		Hepatocellular(203;0.217)	748					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2243G>T	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757396	0.31137	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.18338	2.91;2.89;2.22;2.22;2.91	5.0	3.16	0.36331	.	0.470065	0.18846	N	0.129523	T	0.19565	0.0470	L	0.34521	1.04	0.80722	D	1	P;P;P	0.50272	0.911;0.846;0.933	P;P;P	0.55577	0.779;0.714;0.714	T	0.02398	-1.1165	9	.	.	.	.	5.8953	0.18935	0.096:0.0:0.716:0.188	.	615;748;733	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	V	733;748;615;615;718	ENSP00000421443:G733V;ENSP00000320509:G748V;ENSP00000412748:G615V;ENSP00000422314:G615V;ENSP00000388817:G718V	.	G	+	2	0	BANK1	103212525	1.000000	0.71417	0.987000	0.45799	0.150000	0.21749	0.920000	0.28705	1.468000	0.48064	-0.143000	0.13931	GGT		PASS	0.259	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	Missense_Mutation	41	50	41	50	---	---	---	---
LRIT3	345193	broad.mit.edu	37	4	110791868	110791869	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr4:110791868_110791869CT>AA	ENST00000594814.1	+	4	1963_1964	c.1963_1964CT>AA	c.(1963-1965)CTg>AAg	p.L655K	LRIT3_ENST00000327908.3_Missense_Mutation_p.L472K|LRIT3_ENST00000409621.2_Missense_Mutation_p.L472K|LRIT3_ENST00000379920.3_Missense_Mutation_p.L610K	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	655					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L610K(1)|p.L472K(1)|p.L472M(1)|p.L610M(1)|p.L472Q(1)|p.L610Q(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGAGAAATTGCTGCTTTGTTCT	0.46																																						uc003hzx.3																			6	Substitution - Missense(6)		lung(6)		0						c.(1828-1830)CTG>ATG|c.(1828-1830)CTG>CAG		leucine-rich repeat, immunoglobulin-like and																																				SO:0001583	missense	345193					integral to membrane		g.chr4:110791868C>A|g.chr4:110791869T>A	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	Exception_encountered	4.37:g.110791868_110791869delinsAA	ENSP00000469759:p.Leu655Lys					LRIT3_uc003hzw.3_Missense_Mutation_p.L472M|LRIT3_uc003hzw.3_Missense_Mutation_p.L472Q	p.L610M|p.L610Q	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	3	2021|2022	+			610					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1828C>A|c.1829T>A	CCDS3688.3																																																																																				PASS	0.460	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		16|17	25	16	25	---	---	---	---
AGA	175	broad.mit.edu	37	4	178358674	178358674	+	Splice_Site	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr4:178358674C>T	ENST00000264595.2	-	5	635		c.e5-1		AGA_ENST00000506853.1_Splice_Site	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase						protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GTATAACATTCTGTAAACAAG	0.338																																						uc003iuu.1																			1	Unknown(1)		lung(1)		0						c.e5-1		aspartylglucosaminidase precursor							90.0	90.0	90.0					4																	178358674		2203	4300	6503	SO:0001630	splice_region_variant	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178358674C>T	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.508-1G>A	4.37:g.178358674C>T						AGA_uc003iuv.1_Splice_Site_p.N74_splice|AGA_uc003iuw.2_Splice_Site_p.N74_splice	p.N170_splice	NM_000027	NP_000018	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	5	570	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)						B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Splice_Site	SNP	ENST00000264595.2	37	c.508_splice	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485058	0.84854	.	.	ENSG00000038002	ENST00000264595;ENST00000502310;ENST00000510635	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4321	0.94775	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGA	178595668	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.108000	0.77055	2.770000	0.95276	0.655000	0.94253	.		PASS	0.338	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027	Intron	19	17	19	17	---	---	---	---
HELT	391723	broad.mit.edu	37	4	185941641	185941641	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr4:185941641G>T	ENST00000515777.1	+	4	532	c.444G>T	c.(442-444)caG>caT	p.Q148H	HELT_ENST00000338875.4_Missense_Mutation_p.Q233H|HELT_ENST00000505610.1_Missense_Mutation_p.Q147H			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	148	Pro-rich.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q233H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TCTCCTATCAGCTGCACCCTG	0.721																																						uc011ckq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)CAG>CAT		HES/HEY-like transcription factor							21.0	25.0	24.0					4																	185941641		2199	4298	6497	SO:0001583	missense	391723						DNA binding	g.chr4:185941641G>T	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.444G>T	4.37:g.185941641G>T	ENSP00000426033:p.Gln148His					HELT_uc011cko.1_Missense_Mutation_p.Q148H|HELT_uc003ixa.3_Missense_Mutation_p.Q147H|HELT_uc011ckp.1_Missense_Mutation_p.Q91H	p.Q233H	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	4	699	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	233			Pro-rich.		B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37	c.699G>T		.	.	.	.	.	.	.	.	.	.	G	10.47	1.358443	0.24598	.	.	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	T;T;T	0.64260	-0.09;-0.08;1.89	4.74	1.98	0.26296	.	0.067623	0.64402	D	0.000011	T	0.55609	0.1931	L	0.34521	1.04	0.43050	D	0.994658	D;P;P	0.62365	0.991;0.826;0.891	P;B;B	0.51999	0.687;0.259;0.444	T	0.48258	-0.9051	10	0.22706	T	0.39	.	10.2348	0.43277	0.2256:0.0:0.7744:0.0	.	233;148;147	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	H	147;148;233	ENSP00000422140:Q147H;ENSP00000426033:Q148H;ENSP00000343464:Q233H	ENSP00000343464:Q233H	Q	+	3	2	HELT	186178635	1.000000	0.71417	0.645000	0.29479	0.339000	0.28857	1.616000	0.36933	0.400000	0.25396	0.561000	0.74099	CAG		PASS	0.721	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		18	13	18	13	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012671	189012671	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr4:189012671G>T	ENST00000512729.1	-	7	1394	c.1020C>A	c.(1018-1020)tcC>tcA	p.S340S	TRIML2_ENST00000326754.3_Silent_p.S365S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	340	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.S340S(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGTAAATGAGGGACATCTCGG	0.488																																						uc003izl.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(1018-1020)TCC>TCA		tripartite motif family-like 2							162.0	168.0	166.0					4																	189012671		2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189012671G>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.1020C>A	4.37:g.189012671G>T						TRIML2_uc003izj.1_Silent_p.S168S|TRIML2_uc003izk.1_Silent_p.S148S|TRIML2_uc011cle.1_Silent_p.S415S	p.S340S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1056	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	340			B30.2/SPRY.		B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.1020C>A	CCDS3850.1																																																																																				PASS	0.488	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		76	65	76	65	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13762899	13762899	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:13762899C>G	ENST00000265104.4	-	60	10317	c.10213G>C	c.(10213-10215)Ggt>Cgt	p.G3405R	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3405	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G3405R(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAACAAAGACCAGCTACATTT	0.423									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10213-10215)GGT>CGT		dynein, axonemal, heavy chain 5							97.0	94.0	95.0					5																	13762899		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13762899C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10213G>C	5.37:g.13762899C>G	ENSP00000265104:p.Gly3405Arg					DNAH5_uc003jfc.2_5'UTR	p.G3405R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			60	10255	-	Lung NSC(4;0.00476)		3405			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10213G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645831	0.87958	.	.	ENSG00000039139	ENST00000265104	D	0.83163	-1.69	5.32	5.32	0.75619	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.94945	0.8365	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96805	0.9592	10	0.87932	D	0	.	18.9925	0.92798	0.0:1.0:0.0:0.0	.	3405	Q8TE73	DYH5_HUMAN	R	3405	ENSP00000265104:G3405R	ENSP00000265104:G3405R	G	-	1	0	DNAH5	13815899	1.000000	0.71417	0.711000	0.30485	0.702000	0.40608	7.770000	0.85390	2.494000	0.84150	0.313000	0.20887	GGT		PASS	0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		36	67	36	67	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19838880	19838880	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:19838880C>A	ENST00000507958.1	-	5	1206	c.216G>T	c.(214-216)caG>caT	p.Q72H	CDH18_ENST00000511273.1_Missense_Mutation_p.Q72H|CDH18_ENST00000502796.1_Missense_Mutation_p.Q72H|CDH18_ENST00000382275.1_Missense_Mutation_p.Q72H|CDH18_ENST00000274170.4_Missense_Mutation_p.Q72H|CDH18_ENST00000506372.1_Missense_Mutation_p.Q72H			Q13634	CAD18_HUMAN	cadherin 18, type 2	72	Cadherin 1. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q72H(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCCAACATACTGAGGATCTG	0.378																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(214-216)CAG>CAT		cadherin 18, type 2 preproprotein							107.0	95.0	99.0					5																	19838880		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19838880C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.216G>T	5.37:g.19838880C>A	ENSP00000425093:p.Gln72His					CDH18_uc003jgd.2_Missense_Mutation_p.Q72H|CDH18_uc011cnm.1_Missense_Mutation_p.Q72H	p.Q72H	NM_004934	NP_004925	Q13634	CAD18_HUMAN			2	593	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		72			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.216G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	9.610	1.131023	0.21041	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.00543	6.68;6.68;6.68;6.68;6.68;6.68;6.68	5.77	-2.72	0.05968	Cadherin (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.00552	0.0018	L	0.49778	1.585	0.37016	D	0.895953	B;B	0.28605	0.217;0.03	B;B	0.29663	0.105;0.064	T	0.55970	-0.8056	9	.	.	.	.	13.7568	0.62942	0.0:0.6257:0.0:0.3743	.	72;72	B4DHG6;Q13634	.;CAD18_HUMAN	H	72;72;72;72;72;72;18;72	ENSP00000371710:Q72H;ENSP00000425093:Q72H;ENSP00000274170:Q72H;ENSP00000424931:Q72H;ENSP00000422138:Q72H;ENSP00000427383:Q18H;ENSP00000425854:Q72H	.	Q	-	3	2	CDH18	19874637	0.222000	0.23652	0.965000	0.40720	0.976000	0.68499	-0.391000	0.07323	-0.782000	0.04541	-0.302000	0.09304	CAG		PASS	0.378	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		14	38	14	38	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26881656	26881656	+	Silent	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:26881656C>A	ENST00000231021.4	-	12	2131	c.1959G>T	c.(1957-1959)cgG>cgT	p.R653R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	653					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.R653R(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						CAATGTTGTCCCGGACATCGT	0.408																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1957-1959)CGG>CGT		cadherin 9, type 2 preproprotein							126.0	129.0	128.0					5																	26881656		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881656C>A	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.1959G>T	5.37:g.26881656C>A						CDH9_uc011cnv.1_Silent_p.R246R	p.R653R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2128	-			653			Cytoplasmic (Potential).		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1959G>T	CCDS3893.1																																																																																				PASS	0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		64	141	64	141	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26885930	26885930	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:26885930T>A	ENST00000231021.4	-	11	1847	c.1675A>T	c.(1675-1677)Aac>Tac	p.N559Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	559	Cadherin 5. {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.N559Y(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						CTCATTTTGTTGCGACTGTAG	0.388																																					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.(1675-1677)AAC>TAC		cadherin 9, type 2 preproprotein							67.0	64.0	65.0					5																	26885930		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.chr5:26885930T>A	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.1675A>T	5.37:g.26885930T>A	ENSP00000231021:p.Asn559Tyr					CDH9_uc011cnv.1_Missense_Mutation_p.N152Y	p.N559Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	1844	-			559			Extracellular (Potential).|Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1675A>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028765	0.35797	.	.	ENSG00000113100	ENST00000231021	T	0.52057	0.68	5.79	0.355	0.16069	Cadherin (4);Cadherin-like (1);	0.552842	0.20688	N	0.087511	T	0.17746	0.0426	N	0.02011	-0.69	0.22975	N	0.998489	B;B	0.06786	0.001;0.0	B;B	0.16722	0.016;0.005	T	0.28744	-1.0034	9	.	.	.	.	9.1581	0.37005	0.0:0.076:0.4845:0.4395	.	152;559	B4DFP0;Q9ULB4	.;CADH9_HUMAN	Y	559	ENSP00000231021:N559Y	.	N	-	1	0	CDH9	26921687	0.000000	0.05858	0.999000	0.59377	0.996000	0.88848	0.194000	0.17135	0.402000	0.25451	0.460000	0.39030	AAC		PASS	0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		29	39	29	39	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26902713	26902713	+	Silent	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:26902713T>C	ENST00000231021.4	-	7	1297	c.1125A>G	c.(1123-1125)gaA>gaG	p.E375E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	375	Cadherin 3. {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.E375E(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						CATCTATATCTTCCACAGATA	0.413																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1123-1125)GAA>GAG		cadherin 9, type 2 preproprotein							129.0	125.0	126.0					5																	26902713		2203	4299	6502	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902713T>C	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.1125A>G	5.37:g.26902713T>C							p.E375E	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			7	1294	-			375			Cadherin 3.|Extracellular (Potential).		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1125A>G	CCDS3893.1																																																																																				PASS	0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		29	67	29	67	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38451484	38451484	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:38451484T>A	ENST00000354891.3	+	20	2981	c.2635T>A	c.(2635-2637)Tgg>Agg	p.W879R	EGFLAM_ENST00000514476.1_Missense_Mutation_p.W14R|EGFLAM_ENST00000506135.1_Missense_Mutation_p.W14R|EGFLAM_ENST00000397210.3_Missense_Mutation_p.W14R|EGFLAM_ENST00000336740.6_Missense_Mutation_p.W637R|EGFLAM_ENST00000322350.5_Missense_Mutation_p.W871R|EGFLAM_ENST00000397202.2_Missense_Mutation_p.W237R	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	879	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.W871R(1)|p.W879R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTTTTGCTGTGGAGGGGAGA	0.507																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(2635-2637)TGG>AGG		EGF-like, fibronectin type III and laminin G							200.0	176.0	184.0					5																	38451484		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38451484T>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2635T>A	5.37:g.38451484T>A	ENSP00000346964:p.Trp879Arg					EGFLAM_uc003jlb.1_Missense_Mutation_p.W871R|EGFLAM_uc003jle.1_Missense_Mutation_p.W637R|EGFLAM_uc003jlf.1_Missense_Mutation_p.W237R|EGFLAM_uc003jlg.1_Missense_Mutation_p.W14R	p.W879R	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			20	2959	+	all_lung(31;0.000385)		879			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2635T>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.646414	0.87958	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000508131;ENST00000514476	T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.84687	0.5527	L	0.46819	1.47	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	0.86259	0.1654	10	0.87932	D	0	-1.7608	15.5286	0.75932	0.0:0.0:0.0:1.0	.	637;879;871	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	R	879;871;637;237;637;14;14;14;14	ENSP00000346964:W879R;ENSP00000313084:W871R;ENSP00000337607:W637R;ENSP00000380385:W237R;ENSP00000380393:W14R;ENSP00000425579:W14R;ENSP00000427228:W14R;ENSP00000423228:W14R	ENSP00000313084:W871R	W	+	1	0	EGFLAM	38487241	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.663000	0.83820	2.141000	0.66446	0.528000	0.53228	TGG		PASS	0.507	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		59	108	59	108	---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102487021	102487021	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:102487021G>C	ENST00000358359.3	+	9	1480	c.971G>C	c.(970-972)gGc>gCc	p.G324A	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.G324A|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G324A|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	324					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.G324A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GATGTCAATGGCTTCAGTTTT	0.299																																						uc003kod.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(970-972)GGC>GCC		Histidine acid phosphatase domain containing 1							86.0	94.0	91.0					5																	102487021		2203	4299	6502	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102487021G>C	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.971G>C	5.37:g.102487021G>C	ENSP00000351126:p.Gly324Ala					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.G324A|PPIP5K2_uc010jbo.1_Missense_Mutation_p.G246A	p.G324A	NM_015216	NP_056031	O43314	VIP2_HUMAN			9	1490	+			324					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.971G>C		.	.	.	.	.	.	.	.	.	.	G	26.9	4.777860	0.90195	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T;T	0.48201	0.86;3.27;0.82;0.86	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.77198	0.4095	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.83467	0.0057	10	0.87932	D	0	.	18.9018	0.92446	0.0:0.0:1.0:0.0	.	246;324;324	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	A	324;246;324;324;324	ENSP00000313070:G324A;ENSP00000422525:G246A;ENSP00000351126:G324A;ENSP00000416016:G324A	ENSP00000313070:G324A	G	+	2	0	PPIP5K2	102514920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.513000	0.84729	0.557000	0.71058	GGC		PASS	0.299	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		30	37	30	37	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588761	140588761	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:140588761G>C	ENST00000239450.2	+	1	471	c.282G>C	c.(280-282)gaG>gaC	p.E94D	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	94	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E94D(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGGGAGGAGCTCTGTGGCT	0.478																																						uc003liz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(280-282)GAG>GAC		protocadherin beta 12 precursor							73.0	82.0	79.0					5																	140588761		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588761G>C	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.282G>C	5.37:g.140588761G>C	ENSP00000239450:p.Glu94Asp					PCDHB12_uc011dak.1_Intron	p.E94D	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	471	+			94			Extracellular (Potential).|Cadherin 1.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.282G>C	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794481	0.31777	.	.	ENSG00000120328	ENST00000239450	T	0.32272	1.46	4.25	2.27	0.28462	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.36082	0.0954	M	0.70787	2.145	0.80722	D	1	B	0.29835	0.258	B	0.41917	0.37	T	0.27806	-1.0063	9	0.51188	T	0.08	.	4.0001	0.09576	0.2712:0.0:0.5595:0.1693	.	94	Q9Y5F1	PCDBC_HUMAN	D	94	ENSP00000239450:E94D	ENSP00000239450:E94D	E	+	3	2	PCDHB12	140568945	0.000000	0.05858	1.000000	0.80357	0.876000	0.50452	0.296000	0.19083	0.900000	0.36469	0.561000	0.74099	GAG		PASS	0.478	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		56	38	56	38	---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140712343	140712343	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:140712343G>T	ENST00000517417.1	+	1	2092	c.2092G>T	c.(2092-2094)Gcc>Tcc	p.A698S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A698S	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	698					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A698S(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGGCGGCCGCGGTCTC	0.677																																						uc003lji.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(2092-2094)GCC>TCC		protocadherin gamma subfamily A, 1 isoform 1							72.0	83.0	79.0					5																	140712343		2203	4297	6500	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712343G>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2092G>T	5.37:g.140712343G>T	ENSP00000431083:p.Ala698Ser					PCDHGA1_uc011dan.1_Missense_Mutation_p.A698S	p.A698S	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2092	+			698			Helical; (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2092G>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876397	0.51801	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52526	0.7;0.66	3.87	3.0	0.34707	.	0.131898	0.34110	N	0.004245	T	0.74313	0.3700	H	0.97158	3.95	0.23669	N	0.997152	P;D	0.67145	0.922;0.996	D;P	0.65233	0.933;0.899	T	0.68473	-0.5399	10	0.87932	D	0	.	9.7614	0.40534	0.0989:0.0:0.9011:0.0	.	698;698	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	S	698	ENSP00000431083:A698S;ENSP00000367345:A698S	ENSP00000367345:A698S	A	+	1	0	PCDHGA1	140692527	0.999000	0.42202	0.635000	0.29338	0.028000	0.11728	3.103000	0.50298	0.983000	0.38602	0.585000	0.79938	GCC		PASS	0.677	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		45	52	45	52	---	---	---	---
NIPAL4	348938	broad.mit.edu	37	5	156899620	156899620	+	Missense_Mutation	SNP	C	C	G	rs377161590		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:156899620C>G	ENST00000311946.7	+	6	1169	c.1053C>G	c.(1051-1053)ttC>ttG	p.F351L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.F332L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	351						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.F289L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGACATTTTCAACACTTCCC	0.547											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lwx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1051-1053)TTC>TTG		ichthyin protein		C	LEU/PHE,LEU/PHE	0,4176		0,0,2088	152.0	148.0	149.0		1053,996	-0.8	0.7	5		149	1,8439		0,1,4219	no	missense,missense	NIPAL4	NM_001099287.1,NM_001172292.1	22,22	0,1,6307	GG,GC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	351/467,332/448	156899620	1,12615	2088	4220	6308	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156899620C>G	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1053C>G	5.37:g.156899620C>G	ENSP00000311687:p.Phe351Leu		OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.F332L	p.F351L	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			6	1169	+			351			Cytoplasmic (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.1053C>G	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324527	0.81580	0.0	1.18E-4	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.92911	-3.13;-3.13	6.04	-0.754	0.11065	.	0.042847	0.85682	D	0.000000	D	0.95462	0.8526	H	0.94925	3.6	0.80722	D	1	D;D	0.63046	0.99;0.992	P;P	0.54856	0.762;0.698	D	0.94855	0.8017	10	0.87932	D	0	-5.3241	13.0388	0.58887	0.0:0.6323:0.0:0.3677	.	332;351	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	L	332;351	ENSP00000406456:F332L;ENSP00000311687:F351L	ENSP00000311687:F351L	F	+	3	2	NIPAL4	156832198	1.000000	0.71417	0.745000	0.31077	0.949000	0.60115	0.965000	0.29319	-0.492000	0.06687	0.561000	0.74099	TTC		PASS	0.547	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		38	40	38	40	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169144478	169144478	+	Silent	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:169144478T>C	ENST00000256935.8	+	21	2202	c.2122T>C	c.(2122-2124)Ttg>Ctg	p.L708L	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.L200L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	708					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.L708L(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTGCGACCTTGGCTTACAA	0.448																																						uc003maf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(2122-2124)TTG>CTG		dedicator of cytokinesis 2							206.0	174.0	185.0					5																	169144478		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169144478T>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2122T>C	5.37:g.169144478T>C						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.L200L	p.L708L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		21	2202	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	708					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.2122T>C	CCDS4371.1																																																																																				PASS	0.448	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		48	41	48	41	---	---	---	---
SCGB3A1	92304	broad.mit.edu	37	5	180017806	180017806	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:180017806C>A	ENST00000292641.3	-	2	162	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L		NM_052863.2	NP_443095.2	Q96QR1	SG3A1_HUMAN	secretoglobin, family 3A, member 1	29					negative regulation of cell growth (GO:0030308)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.V29L(1)		large_intestine(1)|lung(2)	3	all_cancers(89;7.5e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00658)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGGGCCACAGGCTTGGCC	0.721																																						uc003mly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GTG>TTG		secretoglobin, family 3A, member 1 precursor							9.0	12.0	11.0					5																	180017806		2168	4269	6437	SO:0001583	missense	92304				negative regulation of cell growth|regulation of cell proliferation	extracellular space	cytokine activity	g.chr5:180017806C>A	AF313458	CCDS4456.1	5q35.3	2013-09-19			ENSG00000161055	ENSG00000161055		"""Secretoglobins"""	18384	protein-coding gene	gene with protein product	"""cytokine high in normal-1"", ""pneumo secretory protein 2"""	606500				11682631, 11481438, 22155607	Standard	NM_052863		Approved	UGRP2, HIN-1, HIN1, LU105, PnSP-2	uc003mly.3	Q96QR1	OTTHUMG00000130936	ENST00000292641.3:c.85G>T	5.37:g.180017806C>A	ENSP00000292641:p.Val29Leu						p.V29L	NM_052863	NP_443095	Q96QR1	SG3A1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	110	-	all_cancers(89;7.5e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00658)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	29					Q96PL0	Missense_Mutation	SNP	ENST00000292641.3	37	c.85G>T	CCDS4456.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.578827	0.28180	.	.	ENSG00000161055	ENST00000292641	T	0.00362	7.84	4.4	0.0677	0.14367	.	1.711930	0.03637	N	0.238879	T	0.00241	0.0007	L	0.46157	1.445	0.09310	N	1	B	0.18741	0.03	B	0.15484	0.013	T	0.45440	-0.9261	10	0.24483	T	0.36	-2.4738	2.4927	0.04614	0.1792:0.3601:0.3508:0.1099	.	29	Q96QR1	SG3A1_HUMAN	L	29	ENSP00000292641:V29L	ENSP00000292641:V29L	V	-	1	0	SCGB3A1	179950412	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.047000	0.14056	0.371000	0.24564	0.556000	0.70494	GTG		PASS	0.721	SCGB3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253533.2	NM_052863		3	2	3	2	---	---	---	---
TMEM170B	100113407	broad.mit.edu	37	6	11566052	11566052	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:11566052C>A	ENST00000379426.1	+	2	251	c.251C>A	c.(250-252)aCt>aAt	p.T84N	TMEM170B_ENST00000543875.1_Missense_Mutation_p.T84N	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	84						integral component of membrane (GO:0016021)		p.T84N(1)		large_intestine(3)|lung(5)	8						GCTTCTGTAACTGGAGCGATG	0.418																																						uc010jpa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)ACT>AAT		transmembrane protein 170B							199.0	191.0	193.0					6																	11566052		1998	4185	6183	SO:0001583	missense	100113407					integral to membrane		g.chr6:11566052C>A		CCDS43425.1	6p24.1	2008-08-08			ENSG00000205269	ENSG00000205269			34244	protein-coding gene	gene with protein product							Standard	NM_001100829		Approved		uc010jpa.4	Q5T4T1	OTTHUMG00000014259	ENST00000379426.1:c.251C>A	6.37:g.11566052C>A	ENSP00000368737:p.Thr84Asn						p.T84N	NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN			2	251	+			84			Helical; (Potential).			Missense_Mutation	SNP	ENST00000379426.1	37	c.251C>A	CCDS43425.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432355	0.43224	.	.	ENSG00000205269	ENST00000543875;ENST00000379426	.	.	.	5.34	5.34	0.76211	.	0.174607	0.51477	D	0.000093	T	0.36166	0.0957	L	0.38175	1.15	0.38072	D	0.936391	B	0.22909	0.077	B	0.28553	0.091	T	0.41698	-0.9494	9	0.62326	D	0.03	-19.2241	12.3919	0.55362	0.0:0.9226:0.0:0.0774	.	84	Q5T4T1	T170B_HUMAN	N	84	.	ENSP00000368737:T84N	T	+	2	0	TMEM170B	11674038	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	3.985000	0.56930	2.491000	0.84063	0.563000	0.77884	ACT		PASS	0.418	TMEM170B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000039862.1	NM_001100829		12	126	12	126	---	---	---	---
SCGN	10590	broad.mit.edu	37	6	25661812	25661812	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:25661812G>T	ENST00000377961.2	+	3	354	c.186G>T	c.(184-186)gtG>gtT	p.V62V	SCGN_ENST00000334979.6_Nonsense_Mutation_p.E39*	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	62	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.V62V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGCACAAGGTGAAACAGCAGT	0.408																																						uc003nfb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(184-186)GTG>GTT		secretagogin precursor							160.0	143.0	148.0					6																	25661812		2203	4300	6503	SO:0001819	synonymous_variant	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25661812G>T	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.186G>T	6.37:g.25661812G>T						SCGN_uc010jpz.2_5'UTR	p.V62V	NM_006998	NP_008929	O76038	SEGN_HUMAN			3	389	+			62			EF-hand 2.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Silent	SNP	ENST00000377961.2	37	c.186G>T	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336490	0.41398	.	.	ENSG00000079689	ENST00000334979	.	.	.	3.48	0.719	0.18208	.	.	.	.	.	.	.	.	.	.	.	0.46078	A	0.99885	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.1195	0.30963	0.2908:0.0:0.7092:0.0	.	.	.	.	X	39	.	ENSP00000333933:E39X	E	+	1	0	SCGN	25769791	1.000000	0.71417	0.181000	0.23098	0.103000	0.19146	1.642000	0.37207	0.114000	0.18032	-0.229000	0.12294	GAA		PASS	0.408	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			7	36	7	36	---	---	---	---
OR2B6	26212	broad.mit.edu	37	6	27925240	27925240	+	Silent	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:27925240C>G	ENST00000244623.1	+	1	222	c.222C>G	c.(220-222)acC>acG	p.T74T		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T74T(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTGTTACACCACATGTACAG	0.418																																						uc011dkx.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(220-222)ACC>ACG		olfactory receptor, family 2, subfamily B,							117.0	109.0	112.0					6																	27925240		2203	4300	6503	SO:0001819	synonymous_variant	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925240C>G	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.222C>G	6.37:g.27925240C>G							p.T74T	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	222	+			74			Helical; Name=2; (Potential).		O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	c.222C>G	CCDS4642.1																																																																																				PASS	0.418	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			11	81	11	81	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32016321	32016321	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:32016321G>T	ENST00000375244.3	-	29	10065	c.9864C>A	c.(9862-9864)ccC>ccA	p.P3288P	TNXB_ENST00000375247.2_Silent_p.P3286P|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3333	Fibronectin type-III 24. {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.P3353P(1)|p.P3288P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGAGTCAAAGGGGCCCTGGG	0.716																																						uc003nzl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(9856-9858)CCC>CCA		tenascin XB isoform 1 precursor							17.0	20.0	19.0					6																	32016321		1959	4153	6112	SO:0001819	synonymous_variant	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.chr6:32016321G>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.9864C>A	6.37:g.32016321G>T						TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	p.P3286P	NM_019105	NP_061978	P22105	TENX_HUMAN			29	10060	-			3333			Fibronectin type-III 25.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9858C>A																																																																																					PASS	0.716	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	20	9	20	---	---	---	---
HLA-DQA2	3118	broad.mit.edu	37	6	32714033	32714033	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:32714033C>T	ENST00000374940.3	+	4	732	c.630C>T	c.(628-630)gcC>gcT	p.A210A		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	210	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)	p.A210A(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	AGATTCCAGCCCCTATGTCAG	0.572																																						uc003obx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(628-630)GCC>GCT		major histocompatibility complex, class II, DQ	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						163.0	160.0	161.0					6																	32714033		1511	2709	4220	SO:0001819	synonymous_variant	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32714033C>T		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.630C>T	6.37:g.32714033C>T							p.A210A	NM_020056	NP_064440	P01906	DQA2_HUMAN			4	688	+			210			Extracellular (Potential).|Connecting peptide.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	c.630C>T	CCDS4753.1																																																																																				PASS	0.572	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		8	110	8	110	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33405482	33405482	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:33405482G>T	ENST00000418600.2	+	8	901	c.800G>T	c.(799-801)tGg>tTg	p.W267L	SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.W267L|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.W208L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	267	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.W267L(1)|p.W252L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTAAAGCTGTGGATCATAGAG	0.582																																						uc011dri.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(799-801)TGG>TTG		synaptic Ras GTPase activating protein 1							124.0	142.0	136.0					6																	33405482		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405482G>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.800G>T	6.37:g.33405482G>T	ENSP00000403636:p.Trp267Leu					SYNGAP1_uc003oeo.1_Missense_Mutation_p.W252L|SYNGAP1_uc010juy.2_Missense_Mutation_p.W252L|SYNGAP1_uc010juz.2_5'UTR	p.W267L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			8	995	+			267			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.800G>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275517	0.80580	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.69175	-0.38;-0.38;-0.38	4.42	4.42	0.53409	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	M	0.90922	3.16	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.996;0.994;0.998	D	0.86500	0.1803	10	0.87932	D	0	.	14.5732	0.68226	0.0:0.0:1.0:0.0	.	267;267;267	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	L	267;267;267;208	ENSP00000293748:W267L;ENSP00000403636:W267L;ENSP00000412475:W208L	ENSP00000293748:W267L	W	+	2	0	SYNGAP1	33513460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.293000	0.77203	0.655000	0.94253	TGG		PASS	0.582	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		84	105	84	105	---	---	---	---
TFEB	7942	broad.mit.edu	37	6	41658460	41658460	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:41658460T>G	ENST00000230323.4	-	4	710	c.409A>C	c.(409-411)Aac>Cac	p.N137H	TFEB_ENST00000403298.4_Missense_Mutation_p.N137H|TFEB_ENST00000358871.2_Missense_Mutation_p.N151H|TFEB_ENST00000394283.1_Missense_Mutation_p.N137H|TFEB_ENST00000373033.1_Missense_Mutation_p.N137H|TFEB_ENST00000420312.1_Intron	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	137				GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730). {ECO:0000305}.	autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N137H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGAGCACTGTTGCCAGCGGAG	0.652			T	ALPHA	renal (childhood epithelioid)																																	uc003oqs.1				Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(409-411)AAC>CAC		transcription factor EB							42.0	43.0	43.0					6																	41658460		2203	4300	6503	SO:0001583	missense	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41658460T>G	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.409A>C	6.37:g.41658460T>G	ENSP00000230323:p.Asn137His					TFEB_uc003oqt.1_Missense_Mutation_p.N137H|TFEB_uc003oqu.1_Missense_Mutation_p.N151H|TFEB_uc003oqv.1_Missense_Mutation_p.N137H|TFEB_uc010jxo.1_Missense_Mutation_p.N137H|TFEB_uc003oqx.1_Missense_Mutation_p.N137H|TFEB_uc003oqr.1_Intron|TFEB_uc003oqw.1_Missense_Mutation_p.N137H	p.N137H	NM_007162	NP_009093	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		4	711	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		137	GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730).				Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	c.409A>C	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184347	0.78677	.	.	ENSG00000112561	ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000373033;ENST00000394283;ENST00000419396;ENST00000416140;ENST00000419574	T;T;T;T;T;T;T;T;T	0.33654	1.78;1.81;1.81;1.81;1.81;1.41;1.41;1.4;1.4	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.64404	1.975	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.997	T	0.53913	-0.8371	10	0.66056	D	0.02	-31.9696	14.7178	0.69284	0.0:0.0:0.0:1.0	.	223;151;137	B0QYS7;B0QYS6;P19484	.;.;TFEB_HUMAN	H	223;137;151;137;137;137;137;137;137	ENSP00000343948:N223H;ENSP00000230323:N137H;ENSP00000351742:N151H;ENSP00000384203:N137H;ENSP00000362124:N137H;ENSP00000377824:N137H;ENSP00000410391:N137H;ENSP00000406491:N137H;ENSP00000400276:N137H	ENSP00000230323:N137H	N	-	1	0	TFEB	41766438	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.173000	0.71937	1.965000	0.57142	0.374000	0.22700	AAC		PASS	0.652	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			9	33	9	33	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49582509	49582509	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:49582509C>T	ENST00000371175.4	-	5	724	c.698G>A	c.(697-699)gGa>gAa	p.G233E	RHAG_ENST00000229810.7_Missense_Mutation_p.G233E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	233					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.G233E(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTGTTTGTCTCCAGGTTCAGC	0.502																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(697-699)GGA>GAA		Rh-associated glycoprotein							195.0	173.0	180.0					6																	49582509		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582509C>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.698G>A	6.37:g.49582509C>T	ENSP00000360217:p.Gly233Glu					RHAG_uc010jzl.2_Missense_Mutation_p.G233E|RHAG_uc010jzm.2_Missense_Mutation_p.G233E	p.G233E	NM_000324	NP_000315	Q02094	RHAG_HUMAN			5	760	-	Lung NSC(77;0.0255)		233			Extracellular (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.698G>A	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349370	0.41599	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.25749	1.78;1.78	5.76	1.77	0.24775	Ammonium transporter AmtB-like (3);	0.351936	0.35677	N	0.003057	T	0.15132	0.0365	M	0.75150	2.29	0.37022	D	0.896258	B;B;B	0.29037	0.231;0.231;0.144	B;B;B	0.32724	0.151;0.151;0.106	T	0.02610	-1.1134	10	0.62326	D	0.03	-0.7484	8.7948	0.34872	0.0:0.4579:0.4046:0.1376	.	233;233;233	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	E	233	ENSP00000360217:G233E;ENSP00000229810:G233E	ENSP00000229810:G233E	G	-	2	0	RHAG	49690468	0.000000	0.05858	0.001000	0.08648	0.868000	0.49771	0.169000	0.16641	0.007000	0.14760	0.655000	0.94253	GGA		PASS	0.502	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			46	61	46	61	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56044682	56044682	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:56044682C>T	ENST00000244728.5	-	3	731	c.334G>A	c.(334-336)Gga>Aga	p.G112R	COL21A1_ENST00000535941.1_Missense_Mutation_p.G112R|COL21A1_ENST00000370819.1_Missense_Mutation_p.G112R	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	112	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G112R(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTGTGTTTCCTCCTAAGTAG	0.468																																						uc003pcs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(334-336)GGA>AGA		collagen, type XXI, alpha 1 precursor							90.0	87.0	88.0					6																	56044682		1971	4149	6120	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044682C>T	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.334G>A	6.37:g.56044682C>T	ENSP00000244728:p.Gly112Arg					COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.G112R|COL21A1_uc003pcu.1_Missense_Mutation_p.G112R	p.G112R	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	566	-	Lung NSC(77;0.0483)		112			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.334G>A	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430149	0.62844	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370817	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	4.75	4.75	0.60458	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000024	D	0.99045	0.9673	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99880	1.1112	10	0.87932	D	0	.	18.1172	0.89559	0.0:1.0:0.0:0.0	.	112;112	Q96P44-3;Q96P44	.;COLA1_HUMAN	R	112	ENSP00000244728:G112R;ENSP00000359855:G112R;ENSP00000444384:G112R;ENSP00000359853:G112R	ENSP00000244728:G112R	G	-	1	0	COL21A1	56152641	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.524000	0.81866	2.331000	0.79229	0.650000	0.86243	GGA		PASS	0.468	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			17	25	17	25	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990918	63990918	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:63990918G>C	ENST00000370657.4	-	4	571	c.538C>G	c.(538-540)Ctt>Gtt	p.L180V	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	180					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.L180V(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAAGTCAAAAGAGGCTCACCA	0.453																																						uc003peh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(538-540)CTT>GTT		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						102.0	96.0	98.0					6																	63990918		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990918G>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.538C>G	6.37:g.63990918G>C	ENSP00000359691:p.Leu180Val					LGSN_uc003pei.2_Intron	p.L180V	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	572	-			180					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.538C>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	5.954	0.360086	0.11296	.	.	ENSG00000146166	ENST00000370657	T	0.20069	2.1	5.7	1.98	0.26296	Glutamine synthetase, beta-Grasp (2);	0.061993	0.64402	D	0.000003	T	0.04907	0.0132	N	0.10874	0.06	0.80722	D	1	B	0.20780	0.048	B	0.28784	0.094	T	0.19289	-1.0310	10	0.87932	D	0	-8.8111	9.335	0.38045	0.2886:0.0:0.7114:0.0	.	180	Q5TDP6	LGSN_HUMAN	V	180	ENSP00000359691:L180V	ENSP00000359691:L180V	L	-	1	0	LGSN	64048877	1.000000	0.71417	0.017000	0.16124	0.038000	0.13279	3.866000	0.56040	0.354000	0.24105	0.650000	0.86243	CTT		PASS	0.453	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		10	46	10	46	---	---	---	---
FAM135A	57579	broad.mit.edu	37	6	71162203	71162203	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:71162203A>G	ENST00000418814.2	+	5	700	c.86A>G	c.(85-87)cAg>cGg	p.Q29R	FAM135A_ENST00000505769.1_Missense_Mutation_p.Q29R|FAM135A_ENST00000361499.3_Missense_Mutation_p.Q29R|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.Q29R|FAM135A_ENST00000370479.3_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	29								p.Q29R(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGTTTTTACCAGATTCGTGCT	0.308																																						uc003pfj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(85-87)CAG>CGG		hypothetical protein LOC57579 isoform c							96.0	86.0	89.0					6																	71162203		1800	4060	5860	SO:0001583	missense	57579							g.chr6:71162203A>G	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.86A>G	6.37:g.71162203A>G	ENSP00000410768:p.Gln29Arg					FAM135A_uc003pfi.2_Missense_Mutation_p.Q29R|FAM135A_uc003pfh.2_Intron|FAM135A_uc003pfk.2_Missense_Mutation_p.Q29R|FAM135A_uc003pfl.2_5'UTR	p.Q29R	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			3	219	+			29					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.86A>G	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177019	0.57692	.	.	ENSG00000082269	ENST00000418814;ENST00000505769;ENST00000515323;ENST00000515280;ENST00000507085;ENST00000361499;ENST00000505868	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.63843	1.955	0.80722	D	1	P;D;D	0.61080	0.539;0.981;0.989	B;D;D	0.72982	0.057;0.954;0.979	D	0.83923	0.0302	10	0.38643	T	0.18	.	14.3849	0.66938	1.0:0.0:0.0:0.0	.	29;29;29	D6RC17;Q9P2D6;Q9P2D6-2	.;F135A_HUMAN;.	R	29	ENSP00000410768:Q29R;ENSP00000423785:Q29R;ENSP00000422406:Q29R;ENSP00000354913:Q29R;ENSP00000423307:Q29R	ENSP00000194672:Q29R	Q	+	2	0	FAM135A	71218924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.218000	0.72224	2.224000	0.72417	0.528000	0.53228	CAG		PASS	0.308	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		19	30	19	30	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76713620	76713620	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:76713620G>T	ENST00000369950.3	-	11	1372	c.1183C>A	c.(1183-1185)Ctg>Atg	p.L395M	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.L395M(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GATGTGGGCAGCTCTGATTGG	0.388																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1183-1185)CTG>ATG		interphotoreceptor matrix proteoglycan 1							88.0	79.0	82.0					6																	76713620		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76713620G>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1183C>A	6.37:g.76713620G>T	ENSP00000358966:p.Leu395Met						p.L395M	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			11	1313	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	395						Missense_Mutation	SNP	ENST00000369950.3	37	c.1183C>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	8.038	0.763342	0.15914	.	.	ENSG00000112706	ENST00000369950	T	0.23147	1.92	4.32	0.245	0.15512	.	0.517876	0.16354	N	0.218062	T	0.07234	0.0183	L	0.59436	1.845	0.09310	N	0.999996	P	0.36438	0.553	B	0.32289	0.143	T	0.19549	-1.0302	10	0.40728	T	0.16	.	3.0212	0.06076	0.3183:0.0:0.4893:0.1924	.	395	Q17R60	IMPG1_HUMAN	M	395	ENSP00000358966:L395M	ENSP00000358966:L395M	L	-	1	2	IMPG1	76770340	0.076000	0.21285	0.002000	0.10522	0.022000	0.10575	0.366000	0.20365	0.209000	0.20645	0.563000	0.77884	CTG		PASS	0.388	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		5	28	5	28	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83838904	83838904	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:83838904C>T	ENST00000349129.2	+	16	2278	c.2018C>T	c.(2017-2019)gCa>gTa	p.A673V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.A664V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.A654V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	673					protein transport (GO:0015031)			p.A673V(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAAAAGACTGCAATGCAGTGC	0.463																																						uc003pjs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2017-2019)GCA>GTA		dopey family member 1							112.0	112.0	112.0					6																	83838904		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83838904C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2018C>T	6.37:g.83838904C>T	ENSP00000195654:p.Ala673Val					DOPEY1_uc011dyy.1_Missense_Mutation_p.A664V|DOPEY1_uc010kbl.1_Missense_Mutation_p.A664V	p.A673V	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	16	2278	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	673					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2018C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758024	0.49468	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.22134	1.99;1.97	5.67	5.67	0.87782	.	0.074385	0.52532	D	0.000063	T	0.10165	0.0249	L	0.38175	1.15	0.80722	D	1	B;B;B	0.29301	0.241;0.028;0.028	B;B;B	0.25987	0.065;0.006;0.006	T	0.09465	-1.0673	10	0.20519	T	0.43	.	19.7612	0.96319	0.0:1.0:0.0:0.0	.	564;664;673	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	V	673;654;654	ENSP00000195654:A673V;ENSP00000237163:A654V	ENSP00000237163:A654V	A	+	2	0	DOPEY1	83895623	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.551000	0.67274	2.670000	0.90874	0.655000	0.94253	GCA		PASS	0.463	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		4	70	4	70	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88854060	88854060	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:88854060C>T	ENST00000537554.1	-	2	4496	c.934G>A	c.(934-936)Ggc>Agc	p.G312S	CNR1_ENST00000428600.2_Missense_Mutation_p.G312S|CNR1_ENST00000549716.1_Missense_Mutation_p.G251S|CNR1_ENST00000549890.1_Missense_Mutation_p.G312S|CNR1_ENST00000369499.2_Missense_Mutation_p.G312S|CNR1_ENST00000535130.1_Missense_Mutation_p.G312S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.G279S|CNR1_ENST00000369501.2_Missense_Mutation_p.G312S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.G312S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TTCTGGGTGCCACGCTGAATC	0.557																																						uc011dzq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(934-936)GGC>AGC		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						112.0	104.0	107.0					6																	88854060		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854060C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.934G>A	6.37:g.88854060C>T	ENSP00000441046:p.Gly312Ser					CNR1_uc010kbz.2_Missense_Mutation_p.G312S|CNR1_uc011dzr.1_Missense_Mutation_p.G312S|CNR1_uc011dzs.1_Missense_Mutation_p.G312S|CNR1_uc003pmq.3_Missense_Mutation_p.G312S|CNR1_uc011dzt.1_Missense_Mutation_p.G312S|CNR1_uc010kca.2_Missense_Mutation_p.G279S	p.G312S	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4497	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	312			Cytoplasmic (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.934G>A	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296948	0.23650	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.151405	0.64402	D	0.000013	T	0.35335	0.0928	N	0.02169	-0.655	0.53688	D	0.999975	B;B	0.20052	0.041;0.023	B;B	0.21151	0.029;0.033	T	0.31916	-0.9926	10	0.30854	T	0.27	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	279;312	P21554-3;P21554	.;CNR1_HUMAN	S	312;312;312;312;312;279;312;251	ENSP00000358513:G312S;ENSP00000442689:G312S;ENSP00000441046:G312S;ENSP00000358511:G312S;ENSP00000446819:G312S;ENSP00000420188:G279S;ENSP00000412192:G312S;ENSP00000449549:G251S	ENSP00000358511:G312S	G	-	1	0	CNR1	88910779	0.998000	0.40836	0.978000	0.43139	0.556000	0.35491	3.638000	0.54332	2.880000	0.98712	0.655000	0.94253	GGC		PASS	0.557	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			38	45	38	45	---	---	---	---
FHL5	9457	broad.mit.edu	37	6	97063490	97063490	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:97063490A>T	ENST00000326771.2	+	7	1077	c.697A>T	c.(697-699)Aca>Tca	p.T233S	FHL5_ENST00000541107.1_Missense_Mutation_p.T233S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	233	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.T233S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TACAGGTCTCACAGGTGCCAA	0.448																																						uc003pos.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(697-699)ACA>TCA		activator of cAMP-responsive element modulator							94.0	93.0	94.0					6																	97063490		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97063490A>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.697A>T	6.37:g.97063490A>T	ENSP00000326022:p.Thr233Ser					FHL5_uc003pot.1_Missense_Mutation_p.T233S	p.T233S	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	7	1102	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	233			LIM zinc-binding 4.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.697A>T	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077352	0.55753	.	.	ENSG00000112214	ENST00000541107;ENST00000326771	T;T	0.57107	0.42;0.42	5.66	3.32	0.38043	Zinc finger, LIM-type (5);	0.332844	0.22045	N	0.065399	T	0.12774	0.0310	N	0.11560	0.145	0.25091	N	0.990853	B	0.02656	0.0	B	0.06405	0.002	T	0.11012	-1.0605	10	0.72032	D	0.01	.	4.5489	0.12098	0.5398:0.0:0.4602:0.0	.	233	Q5TD97	FHL5_HUMAN	S	233	ENSP00000442357:T233S;ENSP00000326022:T233S	ENSP00000326022:T233S	T	+	1	0	FHL5	97170211	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.437000	0.80417	0.977000	0.38444	-0.250000	0.11733	ACA		PASS	0.448	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		13	58	13	58	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100868810	100868810	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:100868810C>G	ENST00000369208.3	-	10	1805	c.1023G>C	c.(1021-1023)caG>caC	p.Q341H	SIM1_ENST00000262901.4_Missense_Mutation_p.Q341H			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	341	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q341H(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCAGGGAGAGCTGCAGCCCTT	0.527																																						uc003pqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1021-1023)CAG>CAC		single-minded homolog 1							95.0	86.0	89.0					6																	100868810		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100868810C>G	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1023G>C	6.37:g.100868810C>G	ENSP00000358210:p.Gln341His					SIM1_uc010kcu.2_Missense_Mutation_p.Q341H	p.Q341H	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1230	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	341			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1023G>C	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747839	0.69533	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.04083	3.71;3.71	5.8	2.65	0.31530	Single-minded, C-terminal (1);	0.048604	0.85682	N	0.000000	T	0.05318	0.0141	L	0.59436	1.845	0.49483	D	0.999791	D	0.58268	0.982	P	0.58454	0.839	T	0.44697	-0.9311	10	0.15499	T	0.54	.	11.5317	0.50614	0.0:0.7233:0.0:0.2767	.	341	P81133	SIM1_HUMAN	H	341	ENSP00000358210:Q341H;ENSP00000262901:Q341H	ENSP00000262901:Q341H	Q	-	3	2	SIM1	100975531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.215000	0.32431	0.815000	0.34398	0.650000	0.86243	CAG		PASS	0.527	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		6	26	6	26	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112440359	112440359	+	Splice_Site	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:112440359C>A	ENST00000230538.7	-	34	5218	c.4821G>T	c.(4819-4821)caG>caT	p.Q1607H	LAMA4_ENST00000522006.1_Splice_Site_p.Q1600H|LAMA4_ENST00000389463.4_Splice_Site_p.Q1600H|LAMA4_ENST00000424408.2_Splice_Site_p.Q1600H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1607	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.Q1600H(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCTGGCTTACCTGAACATTTT	0.463																																						uc003pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4819-4821)CAG>CAT		laminin, alpha 4 isoform 1 precursor							90.0	82.0	85.0					6																	112440359		2203	4300	6503	SO:0001630	splice_region_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112440359C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4821+1G>T	6.37:g.112440359C>A						LAMA4_uc003pvv.2_Missense_Mutation_p.Q1600H|LAMA4_uc003pvt.2_Missense_Mutation_p.Q1600H	p.Q1607H	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	34	5130	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1607			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4821G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607469	0.87157	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.053882	0.85682	D	0.000000	T	0.36468	0.0968	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	T	0.03394	-1.1041	9	.	.	.	.	18.803	0.92025	0.0:1.0:0.0:0.0	.	1607;1600	Q16363;Q16363-2	LAMA4_HUMAN;.	H	1607;1600;1600;1600	ENSP00000230538:Q1607H;ENSP00000429488:Q1600H;ENSP00000374114:Q1600H;ENSP00000416470:Q1600H	.	Q	-	3	2	LAMA4	112547052	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.441000	0.73439	2.692000	0.91855	0.555000	0.69702	CAG		PASS	0.463	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	Missense_Mutation	7	52	7	52	---	---	---	---
DSE	29940	broad.mit.edu	37	6	116720781	116720781	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:116720781G>A	ENST00000331677.3	+	3	812	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.R123Q|DSE_ENST00000537543.1_Missense_Mutation_p.R142Q|DSE_ENST00000452085.3_Missense_Mutation_p.R123Q			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	123					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.R123Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATTGAAGCCCGAGACATGGCC	0.458																																						uc003pws.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(367-369)CGA>CAA		dermatan sulfate epimerase precursor							81.0	82.0	82.0					6																	116720781		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720781G>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.368G>A	6.37:g.116720781G>A	ENSP00000332151:p.Arg123Gln					DSE_uc011ebf.1_Missense_Mutation_p.R123Q|DSE_uc003pwq.1_Missense_Mutation_p.R123Q|DSE_uc011ebg.1_Missense_Mutation_p.R142Q|DSE_uc003pwt.2_Missense_Mutation_p.R123Q	p.R123Q	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	2	562	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	123					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.368G>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227319	0.58668	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.41400	1.9;1.0;1.0;1.0;1.0	5.45	4.57	0.56435	.	0.170252	0.40144	N	0.001171	T	0.10252	0.0251	N	0.14661	0.345	0.31195	N	0.700518	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.001	T	0.09862	-1.0655	10	0.24483	T	0.36	-9.1031	7.6828	0.28524	0.0817:0.0:0.6575:0.2608	.	142;123	B7Z765;Q9UL01	.;DSE_HUMAN	Q	123;123;142;123;123	ENSP00000397597:R123Q;ENSP00000404049:R123Q;ENSP00000441152:R142Q;ENSP00000332151:R123Q;ENSP00000352567:R123Q	ENSP00000332151:R123Q	R	+	2	0	DSE	116827474	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.657000	0.61490	2.835000	0.97688	0.650000	0.86243	CGA		PASS	0.458	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		6	77	6	77	---	---	---	---
RSPO3	84870	broad.mit.edu	37	6	127476428	127476428	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:127476428C>A	ENST00000356698.4	+	4	1068	c.479C>A	c.(478-480)aCg>aAg	p.T160K	RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.T160K	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	160	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.T160K(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AGTCCATGCACGAAGAAGGGA	0.463																																						uc003qar.2																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)ACG>AAG		R-spondin 3 precursor							196.0	191.0	193.0					6																	127476428		2203	4300	6503	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127476428C>A	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.479C>A	6.37:g.127476428C>A	ENSP00000349131:p.Thr160Lys					RSPO3_uc003qas.1_Missense_Mutation_p.T160K	p.T160K	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	4	769	+			160			TSP type-1.		B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.479C>A	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248933	0.39797	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	T;T	0.54071	0.59;0.59	5.79	-5.24	0.02789	Growth factor, receptor (1);	0.633514	0.18039	N	0.153662	T	0.28797	0.0714	M	0.68952	2.095	0.19300	N	0.999975	B;B	0.30973	0.302;0.13	B;B	0.34779	0.131;0.189	T	0.23154	-1.0196	10	0.30078	T	0.28	-21.0433	15.3292	0.74193	0.0:0.3524:0.0:0.6476	.	160;160	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	K	160	ENSP00000349131:T160K;ENSP00000357300:T160K	ENSP00000349131:T160K	T	+	2	0	RSPO3	127518121	0.001000	0.12720	0.050000	0.19076	0.963000	0.63663	-0.052000	0.11865	-1.703000	0.01409	-1.019000	0.02448	ACG		PASS	0.463	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		22	151	22	151	---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519616	137519616	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:137519616C>A	ENST00000367739.4	-	7	1143	c.1022G>T	c.(1021-1023)gGa>gTa	p.G341V	IFNGR1_ENST00000543628.1_Missense_Mutation_p.G313V	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	341					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)	p.G341V(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TTCCACTTTTCCTGGATTGTC	0.458																																						uc003qho.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1021-1023)GGA>GTA		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)						107.0	103.0	104.0					6																	137519616		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519616C>A		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1022G>T	6.37:g.137519616C>A	ENSP00000356713:p.Gly341Val					IFNGR1_uc011edm.1_Missense_Mutation_p.G313V	p.G341V	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1125	-	Colorectal(23;0.24)		341			Cytoplasmic (Potential).		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.1022G>T	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584416	0.46110	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.73258	-0.73;-0.56	5.76	-4.29	0.03721	.	3.621120	0.00649	N	0.000550	T	0.61974	0.2390	L	0.43923	1.385	0.09310	N	0.999992	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.946	T	0.57849	-0.7740	10	0.48119	T	0.1	-4.9485	6.2498	0.20839	0.0:0.2374:0.3483:0.4144	.	313;341	F5H5M7;P15260	.;INGR1_HUMAN	V	341;313	ENSP00000356713:G341V;ENSP00000443282:G313V	ENSP00000356713:G341V	G	-	2	0	IFNGR1	137561309	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-2.193000	0.01244	-1.217000	0.02604	-0.136000	0.14681	GGA		PASS	0.458	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			9	44	9	44	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152650870	152650870	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:152650870T>C	ENST00000367255.5	-	78	15551	c.14950A>G	c.(14950-14952)Aga>Gga	p.R4984G	SYNE1_ENST00000423061.1_Missense_Mutation_p.R4913G|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4731G|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4984G|SYNE1_ENST00000448038.1_Missense_Mutation_p.R4913G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4984					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.R4984G(2)|p.R4913G(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)		CCCACCTGTCTGGTGCGTAAG	0.438										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.(14950-14952)AGA>GGA		spectrin repeat containing, nuclear envelope 1							108.0	112.0	111.0					6																	152650870		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.chr6:152650870T>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.14950A>G	6.37:g.152650870T>C	ENSP00000356224:p.Arg4984Gly	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R4913G|SYNE1_uc003qou.3_Missense_Mutation_p.R4984G|SYNE1_uc010kiz.2_Missense_Mutation_p.R739G	p.R4984G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15552	-		Ovarian(120;0.0955)	4984			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.14950A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812741	0.32053	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	6.03	2.35	0.29111	.	0.000000	0.64402	D	0.000004	T	0.50922	0.1644	L	0.58101	1.795	0.80722	D	1	D;P;P;P	0.57899	0.981;0.872;0.872;0.921	P;B;B;P	0.52481	0.7;0.291;0.291;0.623	T	0.53802	-0.8387	10	0.48119	T	0.1	.	13.9165	0.63902	0.0:0.0:0.4343:0.5657	.	4984;4984;4984;4913	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	4984;4913;4984;4913;4731	ENSP00000356224:R4984G;ENSP00000396024:R4913G;ENSP00000265368:R4984G;ENSP00000390975:R4913G;ENSP00000341887:R4731G	ENSP00000265368:R4984G	R	-	1	2	SYNE1	152692563	1.000000	0.71417	0.997000	0.53966	0.188000	0.23474	4.338000	0.59316	0.166000	0.19597	-0.313000	0.08912	AGA		PASS	0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	98	7	98	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152651898	152651898	+	Missense_Mutation	SNP	A	A	T	rs199673397		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:152651898A>T	ENST00000367255.5	-	78	14523	c.13922T>A	c.(13921-13923)cTc>cAc	p.L4641H	SYNE1_ENST00000423061.1_Missense_Mutation_p.L4570H|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4388H|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4641H|SYNE1_ENST00000448038.1_Missense_Mutation_p.L4570H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4641					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.L4641H(2)|p.L4570H(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)		CTTTTCACTGAGGTAGGAATG	0.398										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.(13921-13923)CTC>CAC		spectrin repeat containing, nuclear envelope 1		A	HIS/LEU,HIS/LEU	0,4406		0,0,2203	125.0	121.0	122.0		13709,13922	5.9	0.9	6		122	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	99,99	0,2,6501	TT,TA,AA		0.0233,0.0,0.0154	probably-damaging,probably-damaging	4570/8750,4641/8798	152651898	2,13004	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.chr6:152651898A>T	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.13922T>A	6.37:g.152651898A>T	ENSP00000356224:p.Leu4641His	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.L4570H|SYNE1_uc003qou.3_Missense_Mutation_p.L4641H|SYNE1_uc010kiz.2_Missense_Mutation_p.L396H	p.L4641H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14524	-		Ovarian(120;0.0955)	4641			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.13922T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021107	0.54576	0.0	2.33E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.66995	1.1;1.1;1.1;1.1;-0.24	5.93	5.93	0.95920	.	0.000000	0.53938	D	0.000043	T	0.77805	0.4185	M	0.70275	2.135	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;0.999;0.999;1.0	T	0.80951	-0.1153	10	0.87932	D	0	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	4641;4641;4641;4570	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	4641;4570;4641;4570;4388	ENSP00000356224:L4641H;ENSP00000396024:L4570H;ENSP00000265368:L4641H;ENSP00000390975:L4570H;ENSP00000341887:L4388H	ENSP00000265368:L4641H	L	-	2	0	SYNE1	152693591	1.000000	0.71417	0.944000	0.38274	0.990000	0.78478	9.339000	0.96797	2.270000	0.75569	0.482000	0.46254	CTC		PASS	0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		40	59	40	59	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152762327	152762327	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:152762327G>T	ENST00000367255.5	-	32	4688	c.4087C>A	c.(4087-4089)Cat>Aat	p.H1363N	SYNE1_ENST00000423061.1_Missense_Mutation_p.H1370N|SYNE1_ENST00000413186.2_Missense_Mutation_p.H1363N|SYNE1_ENST00000367253.4_Missense_Mutation_p.H1363N|SYNE1_ENST00000341594.5_Missense_Mutation_p.H1429N|SYNE1_ENST00000367248.3_Missense_Mutation_p.H1353N|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1363N|SYNE1_ENST00000448038.1_Missense_Mutation_p.H1370N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1363					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.H1363N(2)|p.H1370N(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)		AAGCGTTCATGACTGGAACCT	0.328										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.(4087-4089)CAT>AAT		spectrin repeat containing, nuclear envelope 1							90.0	81.0	84.0					6																	152762327		2202	4298	6500	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.chr6:152762327G>T	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.4087C>A	6.37:g.152762327G>T	ENSP00000356224:p.His1363Asn	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.H1370N|SYNE1_uc003qou.3_Missense_Mutation_p.H1363N|SYNE1_uc010kjb.1_Missense_Mutation_p.H1346N|SYNE1_uc003qow.2_Missense_Mutation_p.H658N|SYNE1_uc003qox.1_Missense_Mutation_p.H879N	p.H1363N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	32	4689	-		Ovarian(120;0.0955)	1363			Potential.|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.4087C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006636	0.54361	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87412	0.73;0.73;0.63;0.73;0.81;-2.12;-2.25;-2.25	5.47	5.47	0.80525	.	0.107967	0.41194	D	0.000925	T	0.80014	0.4546	L	0.51422	1.61	0.80722	D	1	P;P;P;P;P;P	0.51933	0.949;0.607;0.568;0.89;0.607;0.727	B;B;B;B;B;B	0.41374	0.355;0.135;0.263;0.263;0.135;0.263	T	0.83267	-0.0045	10	0.56958	D	0.05	.	15.1943	0.73075	0.0:0.1405:0.8595:0.0	.	1346;1363;1353;1363;1363;1370	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	N	1363;1370;1363;1370;1429;1363;1353;1363	ENSP00000356224:H1363N;ENSP00000396024:H1370N;ENSP00000265368:H1363N;ENSP00000390975:H1370N;ENSP00000341887:H1429N;ENSP00000356222:H1363N;ENSP00000356217:H1353N;ENSP00000414510:H1363N	ENSP00000265368:H1363N	H	-	1	0	SYNE1	152804020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.321000	0.59209	2.729000	0.93468	0.591000	0.81541	CAT		PASS	0.328	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	17	13	17	---	---	---	---
FBXO5	26271	broad.mit.edu	37	6	153296183	153296183	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:153296183C>G	ENST00000229758.3	-	2	735	c.677G>C	c.(676-678)aGa>aCa	p.R226T	FBXO5_ENST00000367241.3_Missense_Mutation_p.R180T|FBXO5_ENST00000477822.1_5'Flank	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	226	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R226T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		AAAATTTCCTCTGGCTATAAT	0.368																																					NSCLC(121;372 1757 17721 17977 29669)	uc003qpg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)AGA>ACA		F-box only protein 5 isoform a							88.0	92.0	90.0					6																	153296183		2203	4300	6503	SO:0001583	missense	26271				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	g.chr6:153296183C>G	AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.677G>C	6.37:g.153296183C>G	ENSP00000229758:p.Arg226Thr					FBXO5_uc003qph.2_Missense_Mutation_p.R180T	p.R226T	NM_012177	NP_036309	Q9UKT4	FBX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)	2	786	-		Ovarian(120;0.125)	226			Interaction with EVI5.		B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	ENST00000229758.3	37	c.677G>C	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	C	0.227	-1.024208	0.02061	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	T;T	0.41400	1.0;1.0	5.92	1.43	0.22495	.	0.510252	0.25096	N	0.033169	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.16722	0.016	T	0.33471	-0.9867	10	0.32370	T	0.25	-1.9161	11.4657	0.50237	0.0:0.6005:0.0:0.3995	.	226	Q9UKT4	FBX5_HUMAN	T	226;180	ENSP00000229758:R226T;ENSP00000356210:R180T	ENSP00000229758:R226T	R	-	2	0	FBXO5	153337876	0.101000	0.21875	0.010000	0.14722	0.075000	0.17131	-0.154000	0.10130	0.343000	0.23821	-0.137000	0.14449	AGA		PASS	0.368	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1			7	73	7	73	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165848854	165848854	+	Silent	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr6:165848854T>A	ENST00000366882.1	-	7	532	c.378A>T	c.(376-378)atA>atT	p.I126I	PDE10A_ENST00000354448.4_Silent_p.I126I|PDE10A_ENST00000539869.2_Silent_p.I136I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	126	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.I126I(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTGGCGTGAATATACACAGGC	0.473																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(376-378)ATA>ATT		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						110.0	93.0	99.0					6																	165848854		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165848854T>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.378A>T	6.37:g.165848854T>A						PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.I56I|PDE10A_uc003quo.2_Silent_p.I136I	p.I126I	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	7	619	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	126			GAF 1.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.378A>T																																																																																					PASS	0.473	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			16	18	16	18	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2255829	2255829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:2255829C>A	ENST00000406869.1	-	8	1329	c.772G>T	c.(772-774)Gag>Tag	p.E258*	MAD1L1_ENST00000402746.1_Nonsense_Mutation_p.E166*|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000399654.2_Nonsense_Mutation_p.E258*|MAD1L1_ENST00000265854.7_Nonsense_Mutation_p.E258*			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	258					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.E258*(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGCTTCAGCTCCCGTTCCAGC	0.622																																						uc003slh.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(772-774)GAG>TAG		MAD1-like 1 protein							47.0	53.0	51.0					7																	2255829		2031	4178	6209	SO:0001587	stop_gained	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2255829C>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.772G>T	7.37:g.2255829C>A	ENSP00000385334:p.Glu258*					MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Nonsense_Mutation_p.E258*|MAD1L1_uc003slg.1_Nonsense_Mutation_p.E258*|MAD1L1_uc010ksh.1_Nonsense_Mutation_p.E258*|MAD1L1_uc003sli.1_Nonsense_Mutation_p.E166*|MAD1L1_uc010ksi.1_Nonsense_Mutation_p.E211*|MAD1L1_uc010ksj.2_Nonsense_Mutation_p.E258*	p.E258*	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	8	1038	-		Ovarian(82;0.0272)	258			Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Nonsense_Mutation	SNP	ENST00000406869.1	37	c.772G>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	38	6.745991	0.97809	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000445959;ENST00000429625	.	.	.	5.54	5.54	0.83059	.	0.051382	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-37.2265	18.4595	0.90734	0.0:1.0:0.0:0.0	.	.	.	.	X	166;258;258;258;135;187	.	ENSP00000265854:E258X	E	-	1	0	MAD1L1	2222355	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	6.802000	0.75175	2.619000	0.88677	0.655000	0.94253	GAG		PASS	0.622	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		37	50	37	50	---	---	---	---
USP42	84132	broad.mit.edu	37	7	6194338	6194338	+	Silent	SNP	C	C	T	rs376412352		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:6194338C>T	ENST00000306177.5	+	15	3311	c.3153C>T	c.(3151-3153)ccC>ccT	p.P1051P		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1051	Arg-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.P1051P(1)|p.P1151P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGTTCTACCCCGACAGGCCGC	0.692																																						uc011jwo.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(3151-3153)CCC>CCT		ubiquitin specific peptidase 42		C		4,4106		0,4,2051	9.0	11.0	10.0		3153	-11.5	0.0	7		10	0,8366		0,0,4183	no	coding-synonymous	USP42	NM_032172.2		0,4,6234	TT,TC,CC		0.0,0.0973,0.0321		1051/1317	6194338	4,12472	2055	4183	6238	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6194338C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3153C>T	7.37:g.6194338C>T						USP42_uc011jwp.1_Silent_p.P1051P|USP42_uc011jwq.1_Silent_p.P858P|USP42_uc011jwr.1_Silent_p.P896P	p.P1051P	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	15	3276	+		Ovarian(82;0.0423)	1051			Arg-rich.		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.3153C>T	CCDS47535.1																																																																																				PASS	0.692	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		6	7	6	7	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20682940	20682940	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:20682940C>A	ENST00000404938.2	+	6	1100	c.448C>A	c.(448-450)Cag>Aag	p.Q150K		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	150	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.Q150K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGTTTTGGCACAGGACATCGG	0.398																																						uc010kuh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(448-450)CAG>AAG		ATP-binding cassette, sub-family B, member 5							94.0	85.0	87.0					7																	20682940		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20682940C>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.448C>A	7.37:g.20682940C>A	ENSP00000384881:p.Gln150Lys						p.Q150K	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN			6	685	+			334			Extracellular (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.448C>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419118	0.42918	.	.	ENSG00000004846	ENST00000404938	D	0.89415	-2.51	3.75	2.88	0.33553	.	.	.	.	.	D	0.93099	0.7803	M	0.83774	2.66	0.80722	D	1	D	0.60160	0.987	P	0.61722	0.893	D	0.93376	0.6739	9	0.72032	D	0.01	.	11.6881	0.51499	0.0:0.8189:0.1811:0.0	.	150	A7BKA4	.	K	150	ENSP00000384881:Q150K	ENSP00000384881:Q150K	Q	+	1	0	ABCB5	20649465	0.986000	0.35501	0.934000	0.37439	0.118000	0.20060	2.704000	0.47118	1.182000	0.42928	-0.216000	0.12614	CAG		PASS	0.398	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		16	40	16	40	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21640753	21640753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:21640753G>A	ENST00000409508.3	+	17	3412	c.3381G>A	c.(3379-3381)tgG>tgA	p.W1127*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.W1127*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1127	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.W1127*(2)		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						TTAAGAAATGGAGCTGGATGT	0.348									Kartagener syndrome																													uc003svc.2																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(3379-3381)TGG>TGA		dynein, axonemal, heavy chain 11							115.0	108.0	110.0					7																	21640753		1856	4100	5956	SO:0001587	stop_gained	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.chr7:21640753G>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.3381G>A	7.37:g.21640753G>A	ENSP00000475939:p.Trp1127*						p.W1127*	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			17	3412	+			1127			Stem (By similarity).		Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.3381G>A		.	.	.	.	.	.	.	.	.	.	G	43	10.255668	0.99369	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.56	5.56	0.83823	.	0.129139	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1212	0.93364	0.0:0.0:1.0:0.0	.	.	.	.	X	1127	.	ENSP00000330671:W1127X	W	+	3	0	DNAH11	21607278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.227000	0.95236	2.632000	0.89209	0.655000	0.94253	TGG		PASS	0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		8	94	8	94	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33303909	33303909	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:33303909G>T	ENST00000242067.6	+	7	1146	c.625G>T	c.(625-627)Gta>Tta	p.V209L	BBS9_ENST00000425508.2_Missense_Mutation_p.V164L|BBS9_ENST00000350941.3_Missense_Mutation_p.V209L|BBS9_ENST00000396127.2_Missense_Mutation_p.V209L|BBS9_ENST00000354265.4_Missense_Mutation_p.V209L|BBS9_ENST00000355070.2_Missense_Mutation_p.V209L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	209					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.V209L(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CAGGTACCAGGTACTTGCTTT	0.259									Bardet-Biedl syndrome																													uc003tdn.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(625-627)GTA>TTA		parathyroid hormone-responsive B1 isoform 2							35.0	39.0	38.0					7																	33303909		2202	4298	6500	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33303909G>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.625G>T	7.37:g.33303909G>T	ENSP00000242067:p.Val209Leu					BBS9_uc003tdo.1_Missense_Mutation_p.V209L|BBS9_uc003tdp.1_Missense_Mutation_p.V209L|BBS9_uc003tdq.1_Missense_Mutation_p.V209L|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.V209L|BBS9_uc011kao.1_Missense_Mutation_p.V87L	p.V209L	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		7	1138	+			209					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.625G>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607938	0.66558	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.01	5.01	0.66863	.	0.136627	0.49916	D	0.000139	D	0.85579	0.5729	M	0.62016	1.91	0.40507	D	0.980708	P;P;P;P;P	0.51351	0.829;0.776;0.894;0.776;0.944	B;P;P;P;P	0.50570	0.42;0.591;0.644;0.591;0.644	D	0.84421	0.0571	10	0.27082	T	0.32	-12.9692	18.3141	0.90213	0.0:0.0:1.0:0.0	.	209;209;209;209;209	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	L	209;209;209;209;209;209;209;164;87;87	ENSP00000242067:V209L;ENSP00000313122:V209L;ENSP00000379433:V209L;ENSP00000347182:V209L;ENSP00000346214:V209L;ENSP00000405151:V164L;ENSP00000388646:V87L	ENSP00000242067:V209L	V	+	1	0	BBS9	33270434	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.488000	0.66869	2.342000	0.79632	0.655000	0.94253	GTA		PASS	0.259	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			27	55	27	55	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38471793	38471793	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:38471793C>A	ENST00000356264.2	-	13	1369	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	AMPH_ENST00000325590.5_Missense_Mutation_p.W385L|AMPH_ENST00000428293.2_Missense_Mutation_p.W385L|AMPH_ENST00000471913.1_5'Flank	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	385					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.W385L(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCTTACCGTCCATAGGTCCCA	0.323																																						uc003tgu.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|liver(1)|skin(1)	5						c.(1153-1155)TGG>TTG		amphiphysin isoform 1							106.0	109.0	108.0					7																	38471793		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38471793C>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1154G>T	7.37:g.38471793C>A	ENSP00000348602:p.Trp385Leu					AMPH_uc003tgv.2_Missense_Mutation_p.W385L|AMPH_uc003tgt.2_Missense_Mutation_p.W138L|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	p.W385L	NM_001635	NP_001626	P49418	AMPH_HUMAN			13	1223	-			385					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1154G>T	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.511891|4.511891	0.85389|0.85389	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	.|T;T;T	.|0.75704	.|-0.65;-0.96;-0.18	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85318|0.85318	0.5669|0.5669	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.998;0.997	T|T	0.81433|0.81433	-0.0935|-0.0935	5|10	.|0.22109	.|T	.|0.4	-8.5168|-8.5168	19.5078|19.5078	0.95127|0.95127	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|385;385;141	.|P49418-2;P49418;Q8NFL4	.|.;AMPH_HUMAN;.	I|L	135|385;385;385;155	.|ENSP00000317441:W385L;ENSP00000348602:W385L;ENSP00000390734:W385L	.|ENSP00000317441:W385L	M|W	-|-	3|2	0|0	AMPH|AMPH	38438318|38438318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.265000|5.265000	0.65519|0.65519	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	ATG|TGG		PASS	0.323	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		46	66	46	66	---	---	---	---
YKT6	10652	broad.mit.edu	37	7	44247777	44247777	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:44247777G>T	ENST00000223369.2	+	5	526	c.439G>T	c.(439-441)Gat>Tat	p.D147Y	YKT6_ENST00000496112.1_Missense_Mutation_p.D147Y|YKT6_ENST00000447123.1_3'UTR	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	147	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)	p.D147Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						GGCCGAACTAGATGAGACCAA	0.493																																						uc003tkm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GAT>TAT		YKT6 v-SNARE protein							81.0	69.0	73.0					7																	44247777		2203	4300	6503	SO:0001583	missense	10652				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity	g.chr7:44247777G>T	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"""R-SNARE"""	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.439G>T	7.37:g.44247777G>T	ENSP00000223369:p.Asp147Tyr					YKT6_uc011kbv.1_Missense_Mutation_p.D147Y	p.D147Y	NM_006555	NP_006546	O15498	YKT6_HUMAN			5	596	+			147			v-SNARE coiled-coil homology.		B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP	ENST00000223369.2	37	c.439G>T	CCDS5482.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694648	0.88830	.	.	ENSG00000106636	ENST00000496112;ENST00000223369	T	0.52295	0.67	6.06	6.06	0.98353	Synaptobrevin (2);	0.041576	0.85682	D	0.000000	T	0.81083	0.4749	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72625	0.919;0.978	D	0.86827	0.2008	10	0.87932	D	0	-16.3497	19.4031	0.94639	0.0:0.0:1.0:0.0	.	147;147	B4DR94;O15498	.;YKT6_HUMAN	Y	147	ENSP00000223369:D147Y	ENSP00000223369:D147Y	D	+	1	0	YKT6	44214302	1.000000	0.71417	0.460000	0.27093	0.906000	0.53458	8.817000	0.91985	2.878000	0.98634	0.650000	0.86243	GAT		PASS	0.493	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251125.2	NM_006555		11	25	11	25	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47384613	47384613	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:47384613C>A	ENST00000398879.1	-	19	2841	c.2475G>T	c.(2473-2475)caG>caT	p.Q825H	TNS3_ENST00000311160.9_Missense_Mutation_p.Q825H|TNS3_ENST00000355730.3_Missense_Mutation_p.Q585H			Q68CZ2	TENS3_HUMAN	tensin 3	825					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.Q825H(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TATCGAGGTCCTGGGGATAGC	0.488																																						uc003tnv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2473-2475)CAG>CAT		tensin 3							80.0	77.0	78.0					7																	47384613		1971	4155	6126	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47384613C>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2475G>T	7.37:g.47384613C>A	ENSP00000381854:p.Gln825His					TNS3_uc003tnw.2_Missense_Mutation_p.Q825H	p.Q825H	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			19	2842	-			825					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2475G>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	5.961	0.361290	0.11296	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93953	-2.89;-2.89;-3.32;-2.99	5.68	-6.19	0.02078	.	2.648660	0.01158	N	0.006564	D	0.85877	0.5799	N	0.24115	0.695	0.09310	N	0.999996	B	0.24368	0.102	B	0.24541	0.054	T	0.75462	-0.3309	10	0.48119	T	0.1	0.1572	4.5489	0.12098	0.1326:0.4847:0.1285:0.2543	.	825	Q68CZ2	TENS3_HUMAN	H	825;935;825;585;281;928	ENSP00000312143:Q825H;ENSP00000381854:Q825H;ENSP00000347968:Q585H;ENSP00000414358:Q928H	ENSP00000312143:Q825H	Q	-	3	2	TNS3	47351138	0.004000	0.15560	0.001000	0.08648	0.010000	0.07245	-0.345000	0.07770	-1.214000	0.02614	-1.264000	0.01445	CAG		PASS	0.488	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		19	53	19	53	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86813864	86813864	+	Silent	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:86813864A>G	ENST00000394703.5	+	13	1535	c.972A>G	c.(970-972)aaA>aaG	p.K324K	DMTF1_ENST00000414194.2_Silent_p.K58K|DMTF1_ENST00000413276.2_Silent_p.K324K|DMTF1_ENST00000432937.2_Silent_p.K236K|DMTF1_ENST00000331242.7_Silent_p.K324K	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	324	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K324K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GTCGTTCTAAATGGCTCAACT	0.478																																						uc003uih.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(970-972)AAA>AAG		cyclin D binding myb-like transcription factor 1							133.0	109.0	117.0					7																	86813864		2203	4300	6503	SO:0001819	synonymous_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86813864A>G	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.972A>G	7.37:g.86813864A>G						DMTF1_uc003uii.2_Silent_p.K58K|DMTF1_uc003uij.2_Silent_p.K58K|DMTF1_uc011khb.1_Silent_p.K236K|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.K324K|DMTF1_uc003uin.2_Silent_p.K58K	p.K324K	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN			11	1298	+	Esophageal squamous(14;0.0058)		324			H-T-H motif (By similarity).|Interaction with CCND1, CCND2 and CCND3 (By similarity).|HTH myb-type.|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Silent	SNP	ENST00000394703.5	37	c.972A>G	CCDS5601.1																																																																																				PASS	0.478	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		42	52	42	52	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100675756	100675756	+	Silent	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:100675756A>G	ENST00000306151.4	+	3	1123	c.1059A>G	c.(1057-1059)acA>acG	p.T353T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	353	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T353T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAATGAGCACACTTTCAATAA	0.478																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1057-1059)ACA>ACG		mucin 17 precursor							192.0	198.0	196.0					7																	100675756		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675756A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1059A>G	7.37:g.100675756A>G						MUC17_uc010lho.1_RNA	p.T353T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	1112	+	Lung NSC(181;0.136)|all_lung(186;0.182)		353			Extracellular (Potential).|Ser-rich.|3.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.1059A>G	CCDS34711.1																																																																																				PASS	0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		113	347	113	347	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113518576	113518576	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:113518576T>A	ENST00000284601.3	-	4	2639	c.2571A>T	c.(2569-2571)aaA>aaT	p.K857N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	857					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.K857N(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGAAGTTGCTTTTTGATATT	0.368																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2569-2571)AAA>AAT		protein phosphatase 1, regulatory (inhibitor)							167.0	159.0	161.0					7																	113518576		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518576T>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2571A>T	7.37:g.113518576T>A	ENSP00000284601:p.Lys857Asn						p.K857N	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2602	-			857					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2571A>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	8.866	0.948023	0.18356	.	.	ENSG00000154415	ENST00000284601	T	0.22743	1.94	5.92	-0.494	0.12034	.	0.297607	0.30859	N	0.008730	T	0.27559	0.0677	M	0.66939	2.045	0.09310	N	1	D	0.59767	0.986	P	0.49637	0.617	T	0.19063	-1.0317	10	0.62326	D	0.03	-0.3283	10.4546	0.44542	0.0:0.3981:0.0:0.6019	.	857	Q16821	PPR3A_HUMAN	N	857	ENSP00000284601:K857N	ENSP00000284601:K857N	K	-	3	2	PPP1R3A	113305812	0.061000	0.20836	0.000000	0.03702	0.015000	0.08874	0.050000	0.14120	-0.301000	0.08882	-0.263000	0.10527	AAA		PASS	0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		46	149	46	149	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122757565	122757565	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:122757565G>T	ENST00000194130.2	-	14	1649	c.1610C>A	c.(1609-1611)gCt>gAt	p.A537D	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	537					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.A537D(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)	AAAGACAATAGCATTGGGTGG	0.398																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1609-1611)GCT>GAT		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						141.0	131.0	134.0					7																	122757565		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122757565G>T		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.1610C>A	7.37:g.122757565G>T	ENSP00000194130:p.Ala537Asp					SLC13A1_uc010lks.2_Missense_Mutation_p.A413D	p.A537D	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			14	1635	-			537					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1610C>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100362	0.94245	.	.	ENSG00000081800	ENST00000194130	T	0.03242	4.0	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57294	-0.7836	10	0.87932	D	0	-24.8525	18.3495	0.90333	0.0:0.0:1.0:0.0	.	537;537	A4D0X1;Q9BZW2	.;S13A1_HUMAN	D	537	ENSP00000194130:A537D	ENSP00000194130:A537D	A	-	2	0	SLC13A1	122544801	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	9.568000	0.98166	2.646000	0.89796	0.655000	0.94253	GCT		PASS	0.398	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		18	68	18	68	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126698233	126698233	+	Intron	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:126698233A>G	ENST00000339582.2	-	3	1536				MIR592_ENST00000384959.1_RNA|GRM8_ENST00000405249.1_Intron|GRM8_ENST00000444921.2_Intron|GRM8_ENST00000358373.3_Intron|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8						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)			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)				ATGTCATGGCATAATATCATC	0.453										HNSCC(24;0.065)																												hsa-mir-592|MI0003604																			0					0															62.0	52.0	55.0					7																	126698233		1568	3582	5150	SO:0001627	intron_variant	693177							g.chr7:126698233A>G		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.727+48316T>C	7.37:g.126698233A>G						GRM8_uc003vls.2_Intron|GRM8_uc003vlr.2_Intron|GRM8_uc011kof.1_Intron|GRM8_uc003vlt.2_Intron|GRM8_uc010lkz.1_Intron|GRM8_uc003vlu.1_Intron										-								A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	RNA	SNP	ENST00000339582.2	37	c.6A>G	CCDS5794.1																																																																																				PASS	0.453	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			15	22	15	22	---	---	---	---
ARF5	381	broad.mit.edu	37	7	127229539	127229539	+	Splice_Site	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:127229539G>T	ENST00000000233.5	+	3	303	c.149G>T	c.(148-150)gGc>gTc	p.G50V	ARF5_ENST00000467281.1_3'UTR|GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	50					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G50V(1)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TTATCTGCAGGCTTCAATGTA	0.438																																						uc003vmb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(148-150)GGC>GTC		ADP-ribosylation factor 5							79.0	84.0	83.0					7																	127229539		2203	4300	6503	SO:0001630	splice_region_variant	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127229539G>T		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.149-1G>T	7.37:g.127229539G>T						ARF5_uc010llb.1_Missense_Mutation_p.G50V|FSCN3_uc003vmc.1_5'Flank	p.G50V	NM_001662	NP_001653	P84085	ARF5_HUMAN			3	185	+			50					P26437	Missense_Mutation	SNP	ENST00000000233.5	37	c.149G>T	CCDS34745.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420987	0.83559	.	.	ENSG00000004059	ENST00000000233;ENST00000415666	D;D	0.86497	-2.13;-2.13	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	H	0.99933	4.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98175	1.0454	9	.	.	.	.	14.6179	0.68562	0.0:0.0:1.0:0.0	.	50;50	A4D0Z3;P84085	.;ARF5_HUMAN	V	50	ENSP00000000233:G50V;ENSP00000412701:G50V	.	G	+	2	0	ARF5	127016775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.704000	0.98716	2.590000	0.87494	0.561000	0.74099	GGC		PASS	0.438	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662	Missense_Mutation	19	99	19	99	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129083936	129083936	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:129083936C>G	ENST00000249344.2	+	3	311	c.271C>G	c.(271-273)Caa>Gaa	p.Q91E	STRIP2_ENST00000435494.2_Missense_Mutation_p.Q91E	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	91					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.Q91E(1)									TTTCAAGACTCAAGGTAATTC	0.383																																						uc011koy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)CAA>GAA		hypothetical protein LOC57464 isoform a							117.0	105.0	109.0					7																	129083936		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129083936C>G	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.271C>G	7.37:g.129083936C>G	ENSP00000249344:p.Gln91Glu					FAM40B_uc003vow.2_Missense_Mutation_p.Q91E	p.Q91E	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			3	311	+			91					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.271C>G	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867212	0.51588	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.39997	1.05;1.05	5.37	5.37	0.77165	.	0.118143	0.64402	D	0.000017	T	0.36771	0.0979	L	0.44542	1.39	0.42859	D	0.994105	B;B	0.28713	0.22;0.015	B;B	0.28011	0.085;0.039	T	0.14559	-1.0468	10	0.33141	T	0.24	-5.9769	14.613	0.68529	0.0:1.0:0.0:0.0	.	91;91	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	E	91	ENSP00000249344:Q91E;ENSP00000392393:Q91E	ENSP00000249344:Q91E	Q	+	1	0	FAM40B	128871172	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.602000	0.74141	2.532000	0.85374	0.655000	0.94253	CAA		PASS	0.383	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		3	42	3	42	---	---	---	---
KCNH2	3757	broad.mit.edu	37	7	150649746	150649746	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:150649746C>A	ENST00000262186.5	-	6	1725	c.1324G>T	c.(1324-1326)Gct>Tct	p.A442S	KCNH2_ENST00000392968.2_Missense_Mutation_p.A346S|KCNH2_ENST00000330883.4_Missense_Mutation_p.A102S|KCNH2_ENST00000430723.3_Missense_Mutation_p.A442S	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	442					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.A442S(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CACTCGGTAGCAGGCGGGCCT	0.592																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(1324-1326)GCT>TCT		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						126.0	119.0	121.0					7																	150649746		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150649746C>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1324G>T	7.37:g.150649746C>A	ENSP00000262186:p.Ala442Ser					KCNH2_uc003wib.2_Missense_Mutation_p.A102S|KCNH2_uc011kux.1_Missense_Mutation_p.A346S|KCNH2_uc003wid.2_Missense_Mutation_p.A102S|KCNH2_uc003wie.2_Missense_Mutation_p.A442S	p.A442S	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1337	-	all_neural(206;0.219)		442			Extracellular (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1324G>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.453689	0.01071	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	4.59	2.64	0.31445	.	0.189561	0.49305	D	0.000157	T	0.78451	0.4285	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.34290	0.336;0.059;0.001;0.447;0.014	B;B;B;B;B	0.30943	0.087;0.039;0.005;0.122;0.039	T	0.70121	-0.4959	10	0.17369	T	0.5	.	5.4683	0.16656	0.0:0.6839:0.2051:0.111	.	346;442;102;442;102	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	S	102;346;442;102;442	ENSP00000328531:A102S;ENSP00000376695:A346S;ENSP00000262186:A442S;ENSP00000387657:A442S	ENSP00000262186:A442S	A	-	1	0	KCNH2	150280679	0.000000	0.05858	0.032000	0.17829	0.002000	0.02628	0.303000	0.19210	0.941000	0.37499	0.549000	0.68633	GCT		PASS	0.592	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		37	117	37	117	---	---	---	---
PRKAG2	51422	broad.mit.edu	37	7	151573625	151573625	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:151573625G>T	ENST00000287878.4	-	1	585	c.81C>A	c.(79-81)agC>agA	p.S27R	PRKAG2-AS1_ENST00000467458.1_RNA|PRKAG2-AS1_ENST00000464464.1_RNA	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	27					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.S27R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	GCCTCTTCTGGCTGGCATTTT	0.612																																						uc003wkk.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(79-81)AGC>AGA		AMP-activated protein kinase gamma2 subunit							79.0	81.0	80.0					7																	151573625		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151573625G>T	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.81C>A	7.37:g.151573625G>T	ENSP00000287878:p.Ser27Arg					PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Missense_Mutation_p.S27R|uc003wko.1_5'Flank	p.S27R	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	1	692	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	27					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.81C>A	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663310	0.47572	.	.	ENSG00000106617	ENST00000287878	D	0.86769	-2.17	4.01	3.13	0.36017	.	0.366376	0.29059	N	0.013274	T	0.78220	0.4249	N	0.24115	0.695	0.80722	D	1	B;B	0.29037	0.231;0.037	B;B	0.33196	0.159;0.014	T	0.74648	-0.3595	10	0.72032	D	0.01	.	7.4734	0.27361	0.1201:0.0:0.8799:0.0	.	27;27	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	R	27	ENSP00000287878:S27R	ENSP00000287878:S27R	S	-	3	2	PRKAG2	151204558	0.998000	0.40836	0.785000	0.31869	0.989000	0.77384	1.517000	0.35867	0.905000	0.36596	0.449000	0.29647	AGC		PASS	0.612	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		5	117	5	117	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154561257	154561257	+	Silent	SNP	C	C	T	rs550108276		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr7:154561257C>T	ENST00000377770.3	+	9	1155	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	DPP6_ENST00000332007.3_Silent_p.T276T|DPP6_ENST00000404039.1_Silent_p.T274T|DPP6_ENST00000427557.1_Silent_p.T231T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	338					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.T274T(1)|p.T276T(1)|p.T338T(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTACCCCACCGTGAAGCCCT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18769	0.0		0.0	False		,,,				2504	0.001				NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - coding silent(3)		lung(3)	pancreas(3)|breast(1)	4						c.(1012-1014)ACC>ACT		dipeptidyl-peptidase 6 isoform 1							42.0	42.0	42.0					7																	154561257		1966	4149	6115	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154561257C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1014C>T	7.37:g.154561257C>T						DPP6_uc003wli.2_Silent_p.T274T|DPP6_uc003wlm.2_Silent_p.T276T|DPP6_uc011kvq.1_Silent_p.T231T	p.T338T	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		9	1143	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	338			Extracellular (Potential).			Silent	SNP	ENST00000377770.3	37	c.1014C>T																																																																																					PASS	0.552	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		10	27	10	27	---	---	---	---
MSR1	4481	broad.mit.edu	37	8	16026296	16026296	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:16026296C>T	ENST00000262101.5	-	4	422	c.301G>A	c.(301-303)Gga>Aga	p.G101R	MSR1_ENST00000445506.2_Missense_Mutation_p.G119R|MSR1_ENST00000355282.2_Missense_Mutation_p.G101R|MSR1_ENST00000350896.3_Missense_Mutation_p.G101R|MSR1_ENST00000381998.4_Missense_Mutation_p.G101R|MSR1_ENST00000536385.1_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	101	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.G101R(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTGTCATTTCCTTTTCCCGTG	0.373																																						uc003wwz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(301-303)GGA>AGA		macrophage scavenger receptor 1 isoform type 1							214.0	197.0	203.0					8																	16026296		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026296C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.301G>A	8.37:g.16026296C>T	ENSP00000262101:p.Gly101Arg					MSR1_uc010lsu.2_Missense_Mutation_p.G119R|MSR1_uc003wxa.2_Missense_Mutation_p.G101R|MSR1_uc003wxb.2_Missense_Mutation_p.G101R|MSR1_uc011kxz.1_Intron	p.G101R	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	499	-			101			Spacer (Probable).|Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.301G>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313819	0.40996	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;D;T;T;D	0.91351	-0.48;-2.15;-0.48;-0.48;-2.83	5.05	0.676	0.17958	.	0.790877	0.11359	N	0.572061	D	0.91102	0.7199	M	0.68317	2.08	0.48511	D	0.999666	D;P;D;P	0.56968	0.978;0.939;0.965;0.941	P;P;P;P	0.54174	0.656;0.66;0.744;0.656	D	0.87258	0.2277	10	0.62326	D	0.03	.	6.3622	0.21435	0.0:0.5325:0.0:0.4675	.	119;101;101;101	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	R	101;101;119;101;101	ENSP00000262100:G101R;ENSP00000262101:G101R;ENSP00000405453:G119R;ENSP00000347430:G101R;ENSP00000371428:G101R	ENSP00000262101:G101R	G	-	1	0	MSR1	16070667	0.019000	0.18553	0.991000	0.47740	0.101000	0.19017	0.223000	0.17719	0.277000	0.22141	0.650000	0.86243	GGA		PASS	0.373	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			27	75	27	75	---	---	---	---
LPL	4023	broad.mit.edu	37	8	19809327	19809327	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:19809327G>A	ENST00000311322.8	+	3	767	c.297G>A	c.(295-297)ctG>ctA	p.L99L	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	99					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.L99L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TGGCCGCCCTGTACAAGAGAG	0.507																																						uc003wzk.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(295-297)CTG>CTA		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						225.0	208.0	214.0					8																	19809327		2203	4300	6503	SO:0001819	synonymous_variant	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19809327G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.297G>A	8.37:g.19809327G>A							p.L99L	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	3	667	+			99					B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	ENST00000311322.8	37	c.297G>A	CCDS6012.1																																																																																				PASS	0.507	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			86	82	86	82	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37793357	37793357	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:37793357G>T	ENST00000307599.4	-	7	893	c.794C>A	c.(793-795)gCa>gAa	p.A265E	GOT1L1_ENST00000518826.1_Missense_Mutation_p.A6E	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	265					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.A265E(2)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GTTGTTGACTGCCACCACCAC	0.592																																						uc011lbj.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(793-795)GCA>GAA		glutamic-oxaloacetic transaminase 1-like 1							81.0	89.0	87.0					8																	37793357		2113	4219	6332	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37793357G>T	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.794C>A	8.37:g.37793357G>T	ENSP00000303077:p.Ala265Glu						p.A265E	NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		7	894	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	265					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.794C>A	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943388	0.73672	.	.	ENSG00000169154	ENST00000307599;ENST00000518826	D;D	0.97906	-4.6;-4.6	5.11	5.11	0.69529	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.671086	0.14318	N	0.327185	D	0.98251	0.9421	M	0.81942	2.565	0.37444	D	0.914535	P	0.50369	0.934	P	0.55303	0.773	D	0.99934	1.1348	10	0.52906	T	0.07	-2.2271	15.5201	0.75859	0.0:0.0:1.0:0.0	.	265	Q8NHS2	AATC2_HUMAN	E	265;6	ENSP00000303077:A265E;ENSP00000429558:A6E	ENSP00000303077:A265E	A	-	2	0	GOT1L1	37912515	0.966000	0.33281	0.979000	0.43373	0.718000	0.41266	4.254000	0.58798	2.412000	0.81896	0.650000	0.86243	GCA		PASS	0.592	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		29	33	29	33	---	---	---	---
MCM4	4173	broad.mit.edu	37	8	48874618	48874618	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:48874618C>A	ENST00000262105.2	+	3	450	c.241C>A	c.(241-243)Cct>Act	p.P81T	PRKDC_ENST00000314191.2_5'Flank|PRKDC_ENST00000338368.3_5'Flank|MCM4_ENST00000523944.1_Missense_Mutation_p.P81T|PRKDC_ENST00000523565.1_5'Flank	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	81					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.P81T(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TATAGCTATCCCTCTTGACTT	0.438																																						uc003xqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(241-243)CCT>ACT		minichromosome maintenance complex component 4							72.0	76.0	74.0					8																	48874618		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48874618C>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.241C>A	8.37:g.48874618C>A	ENSP00000262105:p.Pro81Thr					PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.P81T|MCM4_uc011ldi.1_Missense_Mutation_p.P81T|MCM4_uc010lxw.1_Intron	p.P81T	NM_182746	NP_877423	P33991	MCM4_HUMAN			4	336	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	81					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.241C>A	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717930	0.48622	.	.	ENSG00000104738	ENST00000518221;ENST00000523944;ENST00000262105;ENST00000396826;ENST00000519170	T;T	0.02737	4.18;4.18	5.03	4.14	0.48551	.	0.226724	0.46442	D	0.000285	T	0.04227	0.0117	L	0.55481	1.735	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.34354	-0.9832	10	0.13470	T	0.59	-18.9022	15.6803	0.77364	0.0:0.8624:0.1376:0.0	.	81;81	B3KMX0;P33991	.;MCM4_HUMAN	T	81;81;81;81;31	ENSP00000430194:P81T;ENSP00000262105:P81T	ENSP00000262105:P81T	P	+	1	0	MCM4	49037171	0.997000	0.39634	0.797000	0.32132	0.978000	0.69477	6.286000	0.72665	1.215000	0.43411	0.561000	0.74099	CCT		PASS	0.438	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		22	39	22	39	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70541858	70541858	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:70541858G>C	ENST00000260128.4	+	19	2945	c.2228G>C	c.(2227-2229)gGc>gCc	p.G743A	SULF1_ENST00000458141.2_Missense_Mutation_p.G743A|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.G743A|SULF1_ENST00000402687.4_Missense_Mutation_p.G743A	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	743					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.G743A(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGCCTGCCTGGCCTCACTTGC	0.542																																						uc010lza.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(2227-2229)GGC>GCC		sulfatase 1 precursor							131.0	114.0	120.0					8																	70541858		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70541858G>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2228G>C	8.37:g.70541858G>C	ENSP00000260128:p.Gly743Ala					SULF1_uc003xyd.2_Missense_Mutation_p.G743A|SULF1_uc003xye.2_Missense_Mutation_p.G743A|SULF1_uc003xyf.2_Missense_Mutation_p.G743A|SULF1_uc003xyg.2_Missense_Mutation_p.G743A|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR	p.G743A	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		19	2945	+	Breast(64;0.0654)		743					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2228G>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918433	0.92249	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	4.75	4.75	0.60458	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60924	-0.7166	10	0.62326	D	0.03	.	17.9404	0.89025	0.0:0.0:1.0:0.0	.	743	Q8IWU6	SULF1_HUMAN	A	743	ENSP00000403040:G743A;ENSP00000260128:G743A;ENSP00000385704:G743A;ENSP00000390315:G743A	ENSP00000260128:G743A	G	+	2	0	SULF1	70704412	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	9.618000	0.98365	2.440000	0.82611	0.655000	0.94253	GGC		PASS	0.542	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		60	91	60	91	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766606	77766606	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:77766606G>T	ENST00000521891.2	+	10	7897	c.7449G>T	c.(7447-7449)caG>caT	p.Q2483H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2438H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2457H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2438H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2438					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.Q2467H(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)			CGTCTCTCCAGAACAGTCTAC	0.512										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7312-7314)CAG>CAT		zinc finger homeodomain 4							128.0	157.0	147.0					8																	77766606		2062	4192	6254	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766606G>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.7449G>T	8.37:g.77766606G>T	ENSP00000430497:p.Gln2483His	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Q2483H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2438H	p.Q2438H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7701	+			2438					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7314G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611267	0.28712	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.76;0.73;0.73	5.18	3.35	0.38373	.	0.000000	0.42294	U	0.000722	T	0.60547	0.2277	L	0.60455	1.87	0.40505	D	0.980689	D;D;D	0.71674	0.994;0.997;0.998	P;D;D	0.72625	0.887;0.947;0.978	T	0.59669	-0.7411	10	0.45353	T	0.12	.	10.3954	0.44198	0.0727:0.1353:0.792:0.0	.	2438;2438;2483	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2483;2467;2438;2438;2457	ENSP00000430497:Q2483H;ENSP00000399605:Q2438H;ENSP00000050961:Q2438H;ENSP00000430848:Q2457H	ENSP00000050961:Q2438H	Q	+	3	2	ZFHX4	77929161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.170000	0.42443	0.733000	0.32492	0.650000	0.86243	CAG		PASS	0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		33	78	33	78	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77768344	77768344	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:77768344G>A	ENST00000521891.2	+	10	9635	c.9187G>A	c.(9187-9189)Gaa>Aaa	p.E3063K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E3018K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E3037K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E3018K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3018	Pro-rich.				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.E3047K(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)			GGCACAGCAAGAACTTGATCG	0.537										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9052-9054)GAA>AAA		zinc finger homeodomain 4							109.0	111.0	110.0					8																	77768344		2039	4197	6236	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768344G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9187G>A	8.37:g.77768344G>A	ENSP00000430497:p.Glu3063Lys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.E3063K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E3018K	p.E3018K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9439	+			3018					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9052G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004245	0.74932	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.59364	0.27;0.32;0.29;0.29	5.33	5.33	0.75918	.	0.000000	0.45606	U	0.000343	T	0.77157	0.4089	M	0.74881	2.28	0.80722	D	1	D;D;D	0.60575	0.979;0.988;0.988	D;D;D	0.79108	0.983;0.992;0.992	T	0.78705	-0.2100	10	0.72032	D	0.01	.	19.215	0.93772	0.0:0.0:1.0:0.0	.	3018;3018;3063	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	3063;3047;3018;3018;3037	ENSP00000430497:E3063K;ENSP00000399605:E3018K;ENSP00000050961:E3018K;ENSP00000430848:E3037K	ENSP00000050961:E3018K	E	+	1	0	ZFHX4	77930899	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.657000	0.98554	2.777000	0.95525	0.655000	0.94253	GAA		PASS	0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	128	13	128	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100732644	100732644	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:100732644G>A	ENST00000358544.2	+	38	6915	c.6804G>A	c.(6802-6804)gaG>gaA	p.E2268E	VPS13B_ENST00000357162.2_Silent_p.E2243E|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2268					protein transport (GO:0015031)			p.E2243E(1)|p.E2268E(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)			ACCTTAATGAGGAGGGAAATT	0.343																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(6802-6804)GAG>GAA		vacuolar protein sorting 13B isoform 5							64.0	62.0	63.0					8																	100732644		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100732644G>A	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.6804G>A	8.37:g.100732644G>A						VPS13B_uc003yiw.2_Silent_p.E2243E	p.E2268E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		38	6915	+	Breast(36;3.73e-07)		2268					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.6804G>A	CCDS6280.1																																																																																				PASS	0.343	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		19	36	19	36	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106814257	106814257	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:106814257A>T	ENST00000407775.2	+	8	2197	c.1947A>T	c.(1945-1947)caA>caT	p.Q649H	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q517H|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q380H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q517H|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	649					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q649H(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTCCACTCAAACTAAGAAGC	0.418																																						uc003ymd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(1945-1947)CAA>CAT		zinc finger protein, multitype 2							66.0	61.0	62.0					8																	106814257		1868	4102	5970	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814257A>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1947A>T	8.37:g.106814257A>T	ENSP00000384179:p.Gln649His					ZFPM2_uc011lhs.1_Missense_Mutation_p.Q380H	p.Q649H	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1970	+			649					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1947A>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634620	0.47049	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.21734	1.99;2.48;2.48;3.72	5.71	2.17	0.27698	.	0.104955	0.64402	D	0.000003	T	0.22781	0.0550	L	0.29908	0.895	0.49051	D	0.999745	D	0.60575	0.988	P	0.54401	0.751	T	0.01753	-1.1281	10	0.54805	T	0.06	.	9.333	0.38034	0.7155:0.0:0.2845:0.0	.	649	Q8WW38	FOG2_HUMAN	H	649;517;517;380	ENSP00000384179:Q649H;ENSP00000430757:Q517H;ENSP00000428720:Q517H;ENSP00000367733:Q380H	ENSP00000367733:Q380H	Q	+	3	2	ZFPM2	106883433	0.994000	0.37717	0.991000	0.47740	0.896000	0.52359	1.688000	0.37690	1.004000	0.39156	-0.250000	0.11733	CAA		PASS	0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			17	32	17	32	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113276024	113276024	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:113276024G>T	ENST00000297405.5	-	61	9950	c.9706C>A	c.(9706-9708)Cct>Act	p.P3236T	CSMD3_ENST00000455883.2_Missense_Mutation_p.P3067T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P3166T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3196T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3236	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P3196T(1)|p.P3236T(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						ATCTGGGGAGGAGTTGGGCAG	0.408										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.(9706-9708)CCT>ACT		CUB and Sushi multiple domains 3 isoform 1							70.0	65.0	67.0					8																	113276024		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113276024G>T	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.9706C>A	8.37:g.113276024G>T	ENSP00000297405:p.Pro3236Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P2438T|CSMD3_uc003ynt.2_Missense_Mutation_p.P3196T|CSMD3_uc011lhx.1_Missense_Mutation_p.P3067T	p.P3236T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			61	9865	-			3236			Sushi 25.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9706C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467924	0.84533	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.65	5.65	0.86999	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.94761	0.8309	H	0.94183	3.505	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.995	D;D;P	0.91635	0.994;0.999;0.885	D	0.94329	0.7560	10	0.38643	T	0.18	.	19.7248	0.96160	0.0:0.0:1.0:0.0	.	3067;3236;3196	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	3196;3236;2506;3067;3166	ENSP00000345799:P3196T;ENSP00000297405:P3236T;ENSP00000341558:P2506T;ENSP00000412263:P3067T;ENSP00000343124:P3166T	ENSP00000297405:P3236T	P	-	1	0	CSMD3	113345200	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.864000	0.99589	2.642000	0.89623	0.655000	0.94253	CCT		PASS	0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	48	15	48	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113353855	113353855	+	Missense_Mutation	SNP	C	C	T	rs139554725	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:113353855C>T	ENST00000297405.5	-	42	6747	c.6503G>A	c.(6502-6504)cGa>cAa	p.R2168Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2064Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2098Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2128Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2168	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2168Q(1)|p.R2128Q(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						GGATCCACTTCGTACTTCCAA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	2	0.000399361	0.0015	0.0	5008	,	,		16532	0.0		0.0	False		,,,				2504	0.0					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.(6502-6504)CGA>CAA		CUB and Sushi multiple domains 3 isoform 1		C	GLN/ARG,GLN/ARG,GLN/ARG	9,4397	15.5+/-35.6	0,9,2194	102.0	97.0	99.0		6191,6503,6383	3.7	1.0	8	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	43,43,43	0,11,6492	TT,TC,CC		0.0233,0.2043,0.0846	probably-damaging,probably-damaging,probably-damaging	2064/3539,2168/3708,2128/3668	113353855	11,12995	2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113353855C>T	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.6503G>A	8.37:g.113353855C>T	ENSP00000297405:p.Arg2168Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R1370Q|CSMD3_uc003ynt.2_Missense_Mutation_p.R2128Q|CSMD3_uc011lhx.1_Missense_Mutation_p.R2064Q	p.R2168Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			42	6662	-			2168			Extracellular (Potential).|CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6503G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242552	0.58995	0.002043	2.33E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.56	3.69	0.42338	CUB (5);	0.070979	0.53938	D	0.000045	T	0.48677	0.1513	L	0.59967	1.855	0.38168	D	0.939248	D;D;P	0.89917	1.0;0.996;0.852	D;D;B	0.85130	0.997;0.984;0.292	T	0.49570	-0.8926	10	0.30078	T	0.28	.	13.2613	0.60106	0.0:0.9226:0.0:0.0774	.	2064;2168;2128	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	2128;2168;1438;2064;2098	ENSP00000345799:R2128Q;ENSP00000297405:R2168Q;ENSP00000341558:R1438Q;ENSP00000412263:R2064Q;ENSP00000343124:R2098Q	ENSP00000297405:R2168Q	R	-	2	0	CSMD3	113423031	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.912000	0.56386	1.281000	0.44480	-0.126000	0.14955	CGA		PASS	0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	45	3	45	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113966966	113966966	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:113966966G>T	ENST00000297405.5	-	8	1611	c.1367C>A	c.(1366-1368)tCt>tAt	p.S456Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.S352Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S456Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S416Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	456						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S416Y(1)|p.S456Y(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						AAATCCTCTAGATTTAAAATC	0.289										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.(1366-1368)TCT>TAT		CUB and Sushi multiple domains 3 isoform 1							56.0	57.0	56.0					8																	113966966		2198	4296	6494	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113966966G>T	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.1367C>A	8.37:g.113966966G>T	ENSP00000297405:p.Ser456Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.S416Y|CSMD3_uc011lhx.1_Missense_Mutation_p.S352Y	p.S456Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			8	1526	-			456			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1367C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533772	0.85812	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.26518	1.9;1.9;1.73;1.9	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.48677	0.1513	L	0.49778	1.585	0.43803	D	0.996358	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.998;0.996;1.0	T	0.40327	-0.9569	10	0.62326	D	0.03	.	19.6432	0.95764	0.0:0.0:1.0:0.0	.	352;456;416	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	416;456;352;456	ENSP00000345799:S416Y;ENSP00000297405:S456Y;ENSP00000412263:S352Y;ENSP00000343124:S456Y	ENSP00000297405:S456Y	S	-	2	0	CSMD3	114036142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.641000	0.89580	0.591000	0.81541	TCT		PASS	0.289	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	22	7	22	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125076656	125076656	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:125076656G>A	ENST00000522917.1	+	26	3603	c.3397G>A	c.(3397-3399)Gat>Aat	p.D1133N	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D1133N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1133						integral component of membrane (GO:0016021)		p.D1133N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCCCCCAGCAGATCACATTTA	0.572																																						uc003yqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3397-3399)GAT>AAT		fer-1-like 6							108.0	118.0	114.0					8																	125076656		2026	4181	6207	SO:0001583	missense	654463					integral to membrane		g.chr8:125076656G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3397G>A	8.37:g.125076656G>A	ENSP00000428280:p.Asp1133Asn					uc003yqy.1_Intron	p.D1133N	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		26	3603	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1133			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.3397G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	4.559	0.103893	0.08731	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81415	-1.49;-1.49	5.14	4.27	0.50696	.	0.532223	0.13838	U	0.359257	T	0.73916	0.3648	L	0.59436	1.845	0.34949	D	0.751021	B	0.31125	0.309	B	0.25140	0.058	T	0.73353	-0.4009	10	0.25106	T	0.35	-8.7171	9.6357	0.39806	0.0964:0.0:0.9036:0.0	.	1133	Q2WGJ9	FR1L6_HUMAN	N	1133	ENSP00000428280:D1133N;ENSP00000381982:D1133N	ENSP00000381982:D1133N	D	+	1	0	FER1L6	125145837	0.998000	0.40836	0.179000	0.23059	0.033000	0.12548	3.351000	0.52232	1.174000	0.42811	-0.379000	0.06801	GAT		PASS	0.572	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		67	122	67	122	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131793095	131793095	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:131793095G>T	ENST00000286355.5	-	18	5389	c.3297C>A	c.(3295-3297)ggC>ggA	p.G1099G	ADCY8_ENST00000377928.3_Silent_p.G968G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1099					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 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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.G1099G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGCCGATAACGCCAGCTACCA	0.577										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - coding silent(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3295-3297)GGC>GGA		adenylate cyclase 8							97.0	99.0	99.0					8																	131793095		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131793095G>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3297C>A	8.37:g.131793095G>T		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.G968G	p.G1099G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	3553	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1099			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.3297C>A	CCDS6363.1																																																																																				PASS	0.577	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			46	112	46	112	---	---	---	---
C8orf31	286122	broad.mit.edu	37	8	144126182	144126182	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr8:144126182A>T	ENST00000395172.1	+	4	655	c.303A>T	c.(301-303)caA>caT	p.Q101H	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	101								p.Q101H(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCCCCTTCCAAGACCGCCAAG	0.617																																						uc003yxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(301-303)CAA>CAT		hypothetical protein LOC286122							69.0	61.0	64.0					8																	144126182		2203	4300	6503	SO:0001583	missense	286122							g.chr8:144126182A>T		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.303A>T	8.37:g.144126182A>T	ENSP00000378601:p.Gln101His					C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA	p.Q101H	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN			4	655	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		101					Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	37	c.303A>T	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	a	2.822	-0.244599	0.05906	.	.	ENSG00000177335	ENST00000395172	T	0.53640	0.61	1.79	-3.57	0.04612	.	.	.	.	.	T	0.21022	0.0506	N	0.08118	0	0.09310	N	1	B	0.25441	0.126	B	0.09377	0.004	T	0.08848	-1.0702	9	0.87932	D	0	.	4.1083	0.10047	0.2469:0.3656:0.3875:0.0	.	101	Q8N9H6	CH031_HUMAN	H	101	ENSP00000378601:Q101H	ENSP00000378601:Q101H	Q	+	3	2	C8orf31	144197557	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.573000	0.05874	-1.372000	0.02137	-0.548000	0.04221	CAA		PASS	0.617	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		19	27	19	27	---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19341087	19341087	+	Silent	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:19341087A>T	ENST00000380432.2	+	16	2157	c.2124A>T	c.(2122-2124)atA>atT	p.I708I	DENND4C_ENST00000434457.2_Silent_p.I993I|DENND4C_ENST00000602925.1_Silent_p.I944I			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	708					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I708I(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGAATTGATAACTAAAACAA	0.333																																						uc003znq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2122-2124)ATA>ATT		DENN/MADD domain containing 4C							77.0	78.0	78.0					9																	19341087		2203	4300	6503	SO:0001819	synonymous_variant	55667					integral to membrane		g.chr9:19341087A>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2124A>T	9.37:g.19341087A>T						DENND4C_uc011lnc.1_Silent_p.I38I|DENND4C_uc011lnd.1_5'UTR|DENND4C_uc003znr.2_5'UTR|DENND4C_uc003zns.2_5'Flank	p.I708I	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			16	2157	+			708					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	37	c.2124A>T																																																																																					PASS	0.333	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		25	28	25	28	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(33)|Deletion - Frameshift(5)|Substitution - Missense(3)	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(285)|skin(182)|central_nervous_system(168)|lung(150)|urinary_tract(92)|bone(74)|upper_aerodigestive_tract(64)|soft_tissue(57)|oesophagus(53)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM060208	CDKN2A	M	rs121913389	c.(328-330)TGG>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							18.0	21.0	20.0					9																	21971028		2198	4295	6493	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971028C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.330G>A	9.37:g.21971028C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R	p.W110*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	542	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.330G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.852087|6.852087	0.97885|0.97885	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.87412|.	-2.25;-2.15|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.38217|.	N|.	0.001771|.	T|.	0.37839|.	0.1018|.	L|L	0.32530|0.32530	0.975|0.975	0.30154|0.30154	N|N	0.80279|0.80279	D|.	0.58620|.	0.983|.	P|.	0.60117|.	0.869|.	T|.	0.38887|.	-0.9640|.	10|.	0.87932|0.42905	D|T	0|0.14	-14.7138|-14.7138	8.0617|8.0617	0.30638|0.30638	0.1597:0.7616:0.0:0.0788|0.1597:0.7616:0.0:0.0788	.|.	166|.	Q8N726|.	CD2A2_HUMAN|.	R|X	166;125|110	ENSP00000355153:G166R;ENSP00000432664:G125R|.	ENSP00000355153:G166R|ENSP00000307101:W110X	G|W	-|-	1|3	0|0	CDKN2A|CDKN2A	21961028|21961028	0.088000|0.088000	0.21588|0.21588	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	0.422000|0.422000	0.21296|0.21296	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GGG|TGG		PASS	0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		13	8	13	8	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34256481	34256481	+	Missense_Mutation	SNP	C	C	T	rs569543560		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:34256481C>T	ENST00000402558.2	-	10	3148	c.3124G>A	c.(3124-3126)Gct>Act	p.A1042T	KIF24_ENST00000379174.3_Missense_Mutation_p.A908T|KIF24_ENST00000345050.2_Missense_Mutation_p.A908T|KIF24_ENST00000379166.2_Missense_Mutation_p.A1042T			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1042					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A524T(1)|p.A1042T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GCATATTCAGCATGCGTGCCT	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22181	0.0		0.0	False		,,,				2504	0.0					uc003zua.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(3124-3126)GCT>ACT		kinesin family member 24							132.0	120.0	124.0					9																	34256481		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256481C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3124G>A	9.37:g.34256481C>T	ENSP00000384433:p.Ala1042Thr					KIF24_uc010mkb.2_Intron	p.A1042T	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	3244	-			1042					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.3124G>A	CCDS6551.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.38|14.38	2.518564|2.518564	0.44763|0.44763	.|.	.|.	ENSG00000186638|ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188|ENST00000443226	T;T;T;T|.	0.74842|.	-0.66;-0.88;-0.66;-0.88|.	5.51|5.51	3.24|3.24	0.37175|0.37175	.|.	0.328301|.	0.22500|.	N|.	0.059259|.	T|T	0.38719|0.38719	0.1051|0.1051	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	P|.	0.35745|.	0.518|.	B|.	0.32149|.	0.141|.	T|T	0.22103|0.22103	-1.0226|-1.0226	10|5	0.25751|.	T|.	0.34|.	.|.	11.819|11.819	0.52228|0.52228	0.5868:0.4132:0.0:0.0|0.5868:0.4132:0.0:0.0	.|.	1042|.	Q5T7B8|.	KIF24_HUMAN|.	T|Y	1042;908;1042;908;1042|87	ENSP00000384433:A1042T;ENSP00000368472:A908T;ENSP00000368464:A1042T;ENSP00000340179:A908T|.	ENSP00000340179:A908T|.	A|C	-|-	1|2	0|0	KIF24|KIF24	34246481|34246481	0.567000|0.567000	0.26626|0.26626	0.012000|0.012000	0.15200|0.15200	0.019000|0.019000	0.09904|0.09904	0.532000|0.532000	0.23067|0.23067	0.944000|0.944000	0.37579|0.37579	-0.457000|-0.457000	0.05445|0.05445	GCT|TGC		PASS	0.577	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			40	41	40	41	---	---	---	---
PGM5	5239	broad.mit.edu	37	9	71114186	71114186	+	Missense_Mutation	SNP	G	G	A	rs547326725		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:71114186G>A	ENST00000396396.1	+	10	1752	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	508					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.R508Q(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CTCATCTTCCGGCTCAGTTCC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20179	0.0		0.0	False		,,,				2504	0.001					uc004agr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1522-1524)CGG>CAG		phosphoglucomutase 5							159.0	139.0	146.0					9																	71114186		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71114186G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1523G>A	9.37:g.71114186G>A	ENSP00000379678:p.Arg508Gln						p.R508Q	NM_021965	NP_068800	Q15124	PGM5_HUMAN			10	1752	+			508					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1523G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	36	5.962726	0.97151	.	.	ENSG00000154330	ENST00000396396	D	0.86865	-2.18	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96567	0.9420	10	0.87932	D	0	.	18.9053	0.92458	0.0:0.0:1.0:0.0	.	508	Q15124	PGM5_HUMAN	Q	508	ENSP00000379678:R508Q	ENSP00000379678:R508Q	R	+	2	0	PGM5	70304006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.434000	0.90294	2.770000	0.95276	0.655000	0.94253	CGG		PASS	0.527	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		47	111	47	111	---	---	---	---
TMEM252	169693	broad.mit.edu	37	9	71152321	71152321	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:71152321G>C	ENST00000377311.3	-	2	419	c.367C>G	c.(367-369)Cca>Gca	p.P123A		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	123						integral component of membrane (GO:0016021)		p.P123A(1)									TATAGAGGTGGAGGAATGCCA	0.542																																						uc004agt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CCA>GCA		hypothetical protein LOC169693							60.0	63.0	62.0					9																	71152321		2203	4300	6503	SO:0001583	missense	169693					integral to membrane		g.chr9:71152321G>C	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.367C>G	9.37:g.71152321G>C	ENSP00000366528:p.Pro123Ala					uc004ags.1_RNA	p.P123A	NM_153237	NP_694969	Q8N6L7	CI071_HUMAN			2	420	-			123						Missense_Mutation	SNP	ENST00000377311.3	37	c.367C>G	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505197	0.44558	.	.	ENSG00000181778	ENST00000377311	.	.	.	5.96	5.07	0.68467	.	0.065953	0.64402	D	0.000015	T	0.76357	0.3976	M	0.71581	2.175	0.40609	D	0.981656	D	0.76494	0.999	D	0.64595	0.927	T	0.80443	-0.1380	9	0.87932	D	0	-6.9068	14.4072	0.67090	0.0722:0.0:0.9278:0.0	.	123	Q8N6L7	CI071_HUMAN	A	123	.	ENSP00000366528:P123A	P	-	1	0	C9orf71	70342141	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	4.511000	0.60462	1.527000	0.49086	0.655000	0.94253	CCA		PASS	0.542	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		22	53	22	53	---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71863052	71863052	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:71863052C>T	ENST00000377245.4	+	19	3000	c.2792C>T	c.(2791-2793)gCc>gTc	p.A931V	TJP2_ENST00000348208.4_Missense_Mutation_p.A931V|TJP2_ENST00000265384.7_Missense_Mutation_p.A931V|TJP2_ENST00000453658.2_Missense_Mutation_p.A908V|TJP2_ENST00000539225.1_Missense_Mutation_p.A962V|TJP2_ENST00000535702.1_Missense_Mutation_p.A935V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	931					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.A931V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GAAGGAGGCGCCTACACTGAC	0.622																																						uc004ahe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2791-2793)GCC>GTC		tight junction protein 2 (zona occludens 2)							52.0	49.0	50.0					9																	71863052		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71863052C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2792C>T	9.37:g.71863052C>T	ENSP00000366453:p.Ala931Val					TJP2_uc011lrs.1_Missense_Mutation_p.A908V|TJP2_uc004ahd.2_Missense_Mutation_p.A931V|TJP2_uc004ahf.2_Missense_Mutation_p.A931V|TJP2_uc011lru.1_Missense_Mutation_p.A935V|TJP2_uc011lrv.1_Missense_Mutation_p.A953V|TJP2_uc010mom.1_Missense_Mutation_p.A91V	p.A931V	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			19	2992	+			931					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.2792C>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365327	0.95900	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.13420	2.64;2.59;2.63;2.64;2.61;2.64	6.16	6.16	0.99307	.	0.114813	0.64402	D	0.000014	T	0.35248	0.0925	M	0.69358	2.11	0.48288	D	0.99962	D;B;D;D;D;P	0.58620	0.974;0.313;0.969;0.973;0.983;0.948	P;B;P;P;P;P	0.58130	0.71;0.3;0.579;0.64;0.833;0.631	T	0.00455	-1.1729	10	0.62326	D	0.03	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	962;935;908;931;931;931	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;.;ZO2_HUMAN;.	V	908;931;931;931;935;962	ENSP00000392178:A908V;ENSP00000366453:A931V;ENSP00000345893:A931V;ENSP00000265384:A931V;ENSP00000442090:A935V;ENSP00000438262:A962V	ENSP00000265384:A931V	A	+	2	0	TJP2	71052872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.937000	0.99478	0.650000	0.86243	GCC		PASS	0.622	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		20	35	20	35	---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90262220	90262220	+	Splice_Site	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:90262220G>T	ENST00000408954.3	+	14	1566	c.1231G>T	c.(1231-1233)Ggc>Tgc	p.G411C	DAPK1_ENST00000469640.2_Splice_Site_p.G411C|DAPK1_ENST00000472284.1_Splice_Site_p.G411C|DAPK1_ENST00000358077.5_Splice_Site_p.G411C|DAPK1_ENST00000491893.1_Splice_Site_p.G411C	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	411					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G411C(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTTCCTGCAGGGCGGGTCCAA	0.507									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1231-1233)GGC>TGC		death-associated protein kinase 1							107.0	111.0	110.0					9																	90262220		1959	4140	6099	SO:0001630	splice_region_variant	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90262220G>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1231-1G>T	9.37:g.90262220G>T						DAPK1_uc004ape.2_Missense_Mutation_p.G411C|DAPK1_uc004apd.2_Missense_Mutation_p.G411C|DAPK1_uc011ltg.1_Missense_Mutation_p.G411C|DAPK1_uc011lth.1_Missense_Mutation_p.G148C|DAPK1_uc004apf.1_5'UTR	p.G411C	NM_004938	NP_004929	P53355	DAPK1_HUMAN			14	1369	+			411			ANK 2.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1231G>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121728	0.37436	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.6	4.6	0.57074	Ankyrin repeat-containing domain (4);	0.136092	0.29908	N	0.010895	T	0.21307	0.0513	N	0.08118	0	0.80722	D	1	D;B;B	0.67145	0.996;0.14;0.39	D;B;B	0.65443	0.935;0.332;0.089	T	0.26052	-1.0114	9	.	.	.	.	17.9671	0.89102	0.0:0.0:1.0:0.0	.	411;411;411	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	C	411	ENSP00000350785:G411C;ENSP00000417076:G411C;ENSP00000418885:G411C;ENSP00000386135:G411C;ENSP00000419026:G411C	.	G	+	1	0	DAPK1	89452040	1.000000	0.71417	0.995000	0.50966	0.708000	0.40852	3.543000	0.53633	2.541000	0.85698	0.655000	0.94253	GGC		PASS	0.507	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	Missense_Mutation	44	89	44	89	---	---	---	---
S1PR3	1903	broad.mit.edu	37	9	91616485	91616485	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:91616485G>T	ENST00000375846.3	+	1	5065	c.370G>T	c.(370-372)Gcg>Tcg	p.A124S	S1PR3_ENST00000358157.2_Missense_Mutation_p.A124S			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	124					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.A124S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GGCCCTTGGGGCGTCCACCTG	0.567											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004aqe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(370-372)GCG>TCG		sphingosine-1-phosphate receptor 3							94.0	83.0	87.0					9																	91616485		2203	4300	6503	SO:0001583	missense	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91616485G>T	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.370G>T	9.37:g.91616485G>T	ENSP00000365006:p.Ala124Ser		OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283		p.A124S	NM_005226	NP_005217	Q99500	S1PR3_HUMAN			2	766	+			124			Helical; Name=3; (By similarity).		Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.370G>T	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979382	0.92982	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.19806	2.12;2.12	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43278	-0.9401	10	0.52906	T	0.07	.	18.5817	0.91174	0.0:0.0:1.0:0.0	.	124	Q99500	S1PR3_HUMAN	S	124	ENSP00000350878:A124S;ENSP00000365006:A124S	ENSP00000350878:A124S	A	+	1	0	S1PR3	90806305	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.478000	0.97927	2.619000	0.88677	0.561000	0.74099	GCG		PASS	0.567	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		21	55	21	55	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486886	94486886	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:94486886C>A	ENST00000375708.3	-	9	2088	c.1890G>T	c.(1888-1890)aaG>aaT	p.K630N	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.K490N	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	630	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.K630N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGTCTGAGATCTTCACGTTCA	0.592																																						uc004arj.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(1888-1890)AAG>AAT		receptor tyrosine kinase-like orphan receptor 2							129.0	110.0	117.0					9																	94486886		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486886C>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1890G>T	9.37:g.94486886C>A	ENSP00000364860:p.Lys630Asn					ROR2_uc004ari.1_Missense_Mutation_p.K490N	p.K630N	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	2089	-			630			Cytoplasmic (Potential).|Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1890G>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246974	0.59103	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.93906	-3.31;-3.31	4.86	3.88	0.44766	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.152276	0.29715	N	0.011384	D	0.97651	0.9230	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.97110	0.827;1.0	D	0.96771	0.9568	10	0.87932	D	0	.	6.897	0.24260	0.0:0.7678:0.0:0.2322	.	630;490	Q01974;B1APY4	ROR2_HUMAN;.	N	490;630	ENSP00000364867:K490N;ENSP00000364860:K630N	ENSP00000364860:K630N	K	-	3	2	ROR2	93526707	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.134000	0.31442	2.526000	0.85167	0.561000	0.74099	AAG		PASS	0.592	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			36	92	36	92	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100079491	100079491	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:100079491G>T	ENST00000357054.1	+	23	2424	c.1489G>T	c.(1489-1491)Gcc>Tcc	p.A497S	CCDC180_ENST00000529487.1_Missense_Mutation_p.A358S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.A497S|CCDC180_ENST00000375202.2_Missense_Mutation_p.A358S|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.A355S			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	497						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A497S(1)|p.A358S(1)									CAAGAAGGAGGCCCTGCTGCA	0.622																																						uc011lut.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(1)	7						c.(1489-1491)GCC>TCC		hypothetical protein LOC57653							31.0	29.0	29.0					9																	100079491		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100079491G>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1489G>T	9.37:g.100079491G>T	ENSP00000349562:p.Ala497Ser					KIAA1529_uc004axe.1_Missense_Mutation_p.A497S|KIAA1529_uc004axg.1_Missense_Mutation_p.A358S|KIAA1529_uc011lus.1_Missense_Mutation_p.A315S|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.A358S|KIAA1529_uc011luv.1_Missense_Mutation_p.A355S	p.A497S	NM_020893	NP_065944					21	2262	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1489G>T		.	.	.	.	.	.	.	.	.	.	G	2.906	-0.226524	0.06022	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.38	1.37	0.22104	.	2.300060	0.01572	N	0.020614	T	0.23370	0.0565	L	0.54323	1.7	0.09310	N	1	P;B;B;B	0.51933	0.949;0.021;0.102;0.021	P;B;B;B	0.46543	0.52;0.022;0.022;0.022	T	0.24404	-1.0161	10	0.09338	T	0.73	2.6613	4.4225	0.11488	0.1685:0.0:0.5189:0.3126	.	355;497;358;497	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	S	497;497;358;355;381;358	ENSP00000349562:A497S;ENSP00000378646:A497S;ENSP00000364348:A358S;ENSP00000414000:A355S;ENSP00000434727:A358S	ENSP00000349562:A497S	A	+	1	0	C9orf174	99119312	0.000000	0.05858	0.023000	0.16930	0.028000	0.11728	-0.503000	0.06383	0.059000	0.16252	0.563000	0.77884	GCC		PASS	0.622	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		9	10	9	10	---	---	---	---
TEX10	54881	broad.mit.edu	37	9	103082603	103082603	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:103082603C>A	ENST00000374902.4	-	11	2322	c.2146G>T	c.(2146-2148)Gtg>Ttg	p.V716L	TEX10_ENST00000535814.1_Missense_Mutation_p.V719L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	716						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.V716L(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TAGAGAAGCACAGGGGAAAGC	0.383																																						uc004bas.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2146-2148)GTG>TTG		testis expressed 10 isoform 1							61.0	56.0	58.0					9																	103082603		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103082603C>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2146G>T	9.37:g.103082603C>A	ENSP00000364037:p.Val716Leu					TEX10_uc011lvf.1_Missense_Mutation_p.V555L|TEX10_uc011lvg.1_Missense_Mutation_p.V719L	p.V716L	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	11	2361	-		Acute lymphoblastic leukemia(62;0.0527)	716					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.2146G>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	6.694	0.496739	0.12762	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.55	4.66	0.58398	.	0.065886	0.64402	D	0.000007	T	0.28732	0.0712	N	0.11201	0.11	0.80722	D	1	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.16289	0.0;0.015;0.0	T	0.08680	-1.0710	9	0.17369	T	0.5	-3.8181	7.3718	0.26806	0.1357:0.7217:0.0:0.1426	.	719;584;716	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	L	719;716;584	.	ENSP00000364037:V716L	V	-	1	0	TEX10	102122424	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.265000	0.43311	1.347000	0.45714	0.563000	0.77884	GTG		PASS	0.383	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		9	19	9	19	---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112151514	112151514	+	Splice_Site	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:112151514C>T	ENST00000374541.2	-	22	2356	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	PTPN3_ENST00000412145.1_Splice_Site_p.R620Q|PTPN3_ENST00000262539.3_Splice_Site_p.R597Q|PTPN3_ENST00000394827.3_Splice_Site_p.R219Q|PTPN3_ENST00000497739.1_5'Flank|PTPN3_ENST00000446349.1_Splice_Site_p.R575Q	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	751	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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.R751Q(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						GCTACTTACCCGCCCTCGTTC	0.512																																						uc004bed.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2251-2253)CGG>CAG		protein tyrosine phosphatase, non-receptor type							80.0	65.0	70.0					9																	112151514		2203	4300	6503	SO:0001630	splice_region_variant	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.chr9:112151514C>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.2253+1G>A	9.37:g.112151514C>T						PTPN3_uc004beb.2_Missense_Mutation_p.R620Q|PTPN3_uc004bec.2_Missense_Mutation_p.R575Q|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.R706Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R597Q|PTPN3_uc011lwd.1_Missense_Mutation_p.R219Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R464Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R419Q	p.R751Q	NM_002829	NP_002820	P26045	PTN3_HUMAN			22	2364	-			751			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.2252G>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	37	6.352741	0.97498	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.56	5.56	0.83823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.92694	0.7678	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;P	0.81914	0.995;0.967;0.684	D	0.93118	0.6522	10	0.87932	D	0	.	19.5451	0.95291	0.0:1.0:0.0:0.0	.	597;706;751	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	Q	751;620;575;751;219;597	ENSP00000416654:R620Q;ENSP00000395384:R575Q;ENSP00000363667:R751Q;ENSP00000378304:R219Q;ENSP00000262539:R597Q	ENSP00000262539:R597Q	R	-	2	0	PTPN3	111191335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.629000	0.89072	0.655000	0.94253	CGG		PASS	0.512	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		Missense_Mutation	5	56	5	56	---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112182805	112182805	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:112182805G>A	ENST00000374541.2	-	14	1316	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	PTPN3_ENST00000412145.1_Silent_p.T273T|PTPN3_ENST00000262539.3_Silent_p.T250T|PTPN3_ENST00000394827.3_5'Flank|PTPN3_ENST00000446349.1_Silent_p.T228T	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	404					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.T404T(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						CCGTGATGTAGGTCATTTCAT	0.517																																						uc004bed.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1210-1212)ACC>ACT		protein tyrosine phosphatase, non-receptor type							145.0	121.0	129.0					9																	112182805		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:112182805G>A		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.1212C>T	9.37:g.112182805G>A						PTPN3_uc004beb.2_Silent_p.T273T|PTPN3_uc004bec.2_Silent_p.T228T|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.T359T|PTPN3_uc011lwh.1_Silent_p.T250T|PTPN3_uc011lwd.1_5'Flank|PTPN3_uc011lwe.1_Silent_p.T117T|PTPN3_uc011lwf.1_Silent_p.T72T	p.T404T	NM_002829	NP_002820	P26045	PTN3_HUMAN			14	1324	-			404					A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.1212C>T	CCDS6776.1																																																																																				PASS	0.517	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			6	70	6	70	---	---	---	---
SLC46A2	57864	broad.mit.edu	37	9	115652054	115652054	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:115652054A>G	ENST00000374228.4	-	1	1139	c.908T>C	c.(907-909)gTg>gCg	p.V303A		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	303					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.V303A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						AAGAGGGATCACGTCCACTGT	0.532																																						uc004bgk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(907-909)GTG>GCG		solute carrier family 46, member 2							118.0	110.0	113.0					9																	115652054		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652054A>G	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.908T>C	9.37:g.115652054A>G	ENSP00000363345:p.Val303Ala						p.V303A	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			1	1140	-			303			Helical; Name=7; (Potential).		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.908T>C	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053733	0.75960	.	.	ENSG00000119457	ENST00000374228	T	0.80824	-1.42	5.66	4.5	0.54988	Major facilitator superfamily domain, general substrate transporter (1);	0.341082	0.31221	N	0.008040	T	0.77308	0.4111	L	0.45581	1.43	0.42105	D	0.991352	P	0.38280	0.625	B	0.40741	0.339	T	0.77525	-0.2555	10	0.62326	D	0.03	-20.5683	12.6838	0.56936	0.8619:0.1381:0.0:0.0	.	303	Q9BY10	TSCOT_HUMAN	A	303	ENSP00000363345:V303A	ENSP00000363345:V303A	V	-	2	0	SLC46A2	114691875	0.991000	0.36638	0.997000	0.53966	0.965000	0.64279	8.870000	0.92336	0.969000	0.38237	0.454000	0.30748	GTG		PASS	0.532	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		22	36	22	36	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119903667	119903667	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:119903667T>G	ENST00000313400.4	-	4	1206	c.1106A>C	c.(1105-1107)cAg>cCg	p.Q369P	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.Q369P			O75129	ASTN2_HUMAN	astrotactin 2	369					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				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						TGGTTGCAGCTGACCGATCTC	0.587																																						uc004bjs.1																			0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1105-1107)CAG>CCG		astrotactin 2 isoform c							108.0	87.0	94.0					9																	119903667		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119903667T>G	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.1106A>C	9.37:g.119903667T>G	ENSP00000314038:p.Gln369Pro					ASTN2_uc004bjr.1_Missense_Mutation_p.Q369P|ASTN2_uc004bjt.1_Intron	p.Q369P	NM_198187	NP_937830	O75129	ASTN2_HUMAN			4	1207	-			369			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1106A>C		.	.	.	.	.	.	.	.	.	.	T	14.99	2.699630	0.48307	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986	T;T;T	0.12361	2.86;2.86;2.69	5.06	3.91	0.45181	.	0.153445	0.44688	D	0.000435	T	0.18593	0.0446	.	.	.	0.39086	D	0.96099	P;D	0.57257	0.666;0.979	B;P	0.49421	0.185;0.61	T	0.02491	-1.1151	8	.	.	.	-8.0947	9.4545	0.38747	0.0:0.0815:0.0:0.9185	.	369;369	O75129;O75129-3	ASTN2_HUMAN;.	P	369;369;96	ENSP00000314038:Q369P;ENSP00000363108:Q369P;ENSP00000363098:Q96P	.	Q	-	2	0	ASTN2	118943488	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.191000	0.58372	0.767000	0.33267	0.455000	0.32223	CAG		PASS	0.587	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		19	56	19	56	---	---	---	---
PIP5KL1	138429	broad.mit.edu	37	9	130689478	130689478	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:130689478T>C	ENST00000388747.4	-	7	648	c.604A>G	c.(604-606)Atc>Gtc	p.I202V	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	202	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.I202V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TGCATGACGATGAAGTACGTC	0.692																																						uc011mao.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(604-606)ATC>GTC		phosphatidylinositol-4-phosphate 5-kinase-like 1							29.0	29.0	29.0					9																	130689478		2203	4300	6503	SO:0001583	missense	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130689478T>C	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.604A>G	9.37:g.130689478T>C	ENSP00000373399:p.Ile202Val					PIP5KL1_uc004bsu.2_5'UTR	p.I202V	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN			7	649	-			202			PIPK.		Q8IVS3	Missense_Mutation	SNP	ENST00000388747.4	37	c.604A>G	CCDS48030.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333816	0.60853	.	.	ENSG00000167103	ENST00000388747	T	0.29917	1.55	5.23	4.07	0.47477	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.116732	0.56097	D	0.000038	T	0.14874	0.0359	N	0.11154	0.105	0.80722	D	1	P	0.40282	0.711	B	0.42163	0.378	T	0.11372	-1.0590	10	0.02654	T	1	-31.3783	9.4363	0.38641	0.0:0.0879:0.0:0.9121	.	202	Q5T9C9	PI5L1_HUMAN	V	202	ENSP00000373399:I202V	ENSP00000373399:I202V	I	-	1	0	PIP5KL1	129729299	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	5.083000	0.64456	1.958000	0.56883	0.402000	0.26972	ATC		PASS	0.692	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		13	37	13	37	---	---	---	---
OBP2A	29991	broad.mit.edu	37	9	138439085	138439085	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:138439085T>C	ENST00000539850.1	+	3	294	c.268T>C	c.(268-270)Ttc>Ctc	p.F90L	OBP2A_ENST00000342114.4_Missense_Mutation_p.I45T|OBP2A_ENST00000371776.1_Missense_Mutation_p.F90L|OBP2A_ENST00000340780.3_Missense_Mutation_p.F90L			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	90				F -> Y (in Ref. 1; CAB71326). {ECO:0000305}.	response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.F90L(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GCCTGGCAAATTCAGCGCCTG	0.642																																						uc004cgb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)TTC>CTC		odorant binding protein 2A precursor							82.0	75.0	77.0					9																	138439085		2203	4300	6503	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138439085T>C	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.268T>C	9.37:g.138439085T>C	ENSP00000441028:p.Phe90Leu					OBP2A_uc004cgc.2_Missense_Mutation_p.F90L|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.I45T	p.F90L	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	3	310	+			90	F -> Y (in Ref. 1; CAB71326).				Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.268T>C	CCDS6992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	14.05|14.05	2.420064|2.420064	0.42918|0.42918	.|.	.|.	ENSG00000122136|ENSG00000122136	ENST00000340780;ENST00000371776;ENST00000539850|ENST00000342114	T;T;T|T	0.14391|0.06608	2.51;3.2;3.2|3.28	2.55|2.55	2.55|2.55	0.30701|0.30701	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.182885|.	0.26677|.	N|.	0.023079|.	T|T	0.12561|0.12561	0.0305|0.0305	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P;B|D	0.42757|0.65815	0.789;0.064|0.995	P;B|D	0.49451|0.64321	0.611;0.122|0.924	T|T	0.11867|0.11867	-1.0570|-1.0570	10|9	0.72032|0.72032	D|D	0.01|0.01	-47.8449|-47.8449	7.0308|7.0308	0.24967|0.24967	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	90;90|45	Q5T8A5;Q9NY56|Q5T8A4	.;OBP2A_HUMAN|.	L|T	90|45	ENSP00000342097:F90L;ENSP00000360841:F90L;ENSP00000441028:F90L|ENSP00000340950:I45T	ENSP00000342097:F90L|ENSP00000340950:I45T	F|I	+|+	1|2	0|0	OBP2A|OBP2A	137578906|137578906	0.003000|0.003000	0.15002|0.15002	0.014000|0.014000	0.15608|0.15608	0.024000|0.024000	0.10985|0.10985	0.762000|0.762000	0.26503|0.26503	1.413000|1.413000	0.46997|0.46997	0.370000|0.370000	0.22315|0.22315	TTC|ATT		PASS	0.642	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		26	45	26	45	---	---	---	---
LCN9	392399	broad.mit.edu	37	9	138556117	138556117	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:138556117G>T	ENST00000277526.3	+	2	206	c.206G>T	c.(205-207)gGc>gTc	p.G69V	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	69						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)	p.G69V(2)		kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TTGAAGAACGGCAGCCTAATA	0.473																																						uc004cgk.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(205-207)GGC>GTC		lipocalin 9							107.0	112.0	110.0					9																	138556117		2033	4197	6230	SO:0001583	missense	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138556117G>T	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.206G>T	9.37:g.138556117G>T	ENSP00000277526:p.Gly69Val						p.G69V	NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	2	206	+		Myeloproliferative disorder(178;0.0821)	69					C9J5F0|Q6JVE7	Missense_Mutation	SNP	ENST00000277526.3	37	c.206G>T	CCDS56593.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998286	0.35226	.	.	ENSG00000148386	ENST00000277526	T	0.39592	1.07	3.08	-0.171	0.13331	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.672565	0.12313	N	0.480054	T	0.60196	0.2250	M	0.76574	2.34	0.09310	N	0.999997	D	0.76494	0.999	D	0.75020	0.985	T	0.52381	-0.8583	10	0.72032	D	0.01	-11.1305	10.5866	0.45286	0.0:0.6016:0.3984:0.0	.	69	Q8WX39	LCN9_HUMAN	V	69	ENSP00000277526:G69V	ENSP00000277526:G69V	G	+	2	0	LCN9	137695938	0.002000	0.14202	0.000000	0.03702	0.071000	0.16799	1.198000	0.32223	-0.014000	0.14175	0.462000	0.41574	GGC		PASS	0.473	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		37	119	37	119	---	---	---	---
AKR1C3	8644	broad.mit.edu	37	10	5141522	5141522	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:5141522A>G	ENST00000380554.3	+	5	1103	c.451A>G	c.(451-453)Atg>Gtg	p.M151V	AKR1C3_ENST00000439082.2_Missense_Mutation_p.M32V|AKR1C3_ENST00000605149.1_Missense_Mutation_p.M128V	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	151					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.M151V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	TCCACAGGCCATGGAGAAGTG	0.473																																						uc001ihr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(451-453)ATG>GTG		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						110.0	102.0	105.0					10																	5141522		2203	4300	6503	SO:0001583	missense	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5141522A>G	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.451A>G	10.37:g.5141522A>G	ENSP00000369927:p.Met151Val					AKR1C3_uc010qap.1_Missense_Mutation_p.M128V|AKR1C3_uc001ihu.2_Missense_Mutation_p.M151V	p.M151V	NM_003739	NP_003730	P42330	AK1C3_HUMAN			5	634	+			151					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	37	c.451A>G	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	A	5.042	0.193427	0.09599	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.54866	0.55;0.55	2.67	-5.35	0.02697	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.446342	0.21376	N	0.075553	T	0.40956	0.1138	M	0.64630	1.985	0.42593	D	0.993258	B;B;B	0.27559	0.181;0.014;0.005	B;B;B	0.25987	0.065;0.048;0.048	T	0.03086	-1.1074	10	0.66056	D	0.02	.	7.0749	0.25199	0.6452:0.2453:0.0:0.1095	.	32;151;151	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	V	32;151	ENSP00000401327:M32V;ENSP00000369927:M151V	ENSP00000369927:M151V	M	+	1	0	AKR1C3	5131522	0.000000	0.05858	0.282000	0.24776	0.515000	0.34225	-2.089000	0.01357	-1.530000	0.01751	-0.619000	0.04042	ATG		PASS	0.473	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		27	35	27	35	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27355424	27355424	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:27355424C>A	ENST00000376087.4	-	11	1426	c.1261G>T	c.(1261-1263)Gat>Tat	p.D421Y	ANKRD26_ENST00000436985.2_Missense_Mutation_p.D470Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	421					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.D421Y(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACCTCAGAATCCCAAGGTGAT	0.313																																						uc001ith.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(1261-1263)GAT>TAT		ankyrin repeat domain 26							74.0	76.0	75.0					10																	27355424		1819	4055	5874	SO:0001583	missense	22852					centrosome		g.chr10:27355424C>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1261G>T	10.37:g.27355424C>A	ENSP00000365255:p.Asp421Tyr					ANKRD26_uc001itg.2_Missense_Mutation_p.D140Y|ANKRD26_uc009xku.1_Missense_Mutation_p.D421Y	p.D421Y	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			11	1433	-			421					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.1261G>T	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423139	0.25639	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.50548	1.19;0.74	4.74	1.83	0.25207	.	.	.	.	.	T	0.59115	0.2170	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.987	D;P;P	0.68353	0.957;0.907;0.641	T	0.57112	-0.7867	9	0.59425	D	0.04	.	6.1682	0.20402	0.0:0.6801:0.0:0.3199	.	421;421;470	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	Y	421;470	ENSP00000365255:D421Y;ENSP00000405112:D470Y	ENSP00000365255:D421Y	D	-	1	0	ANKRD26	27395430	1.000000	0.71417	0.806000	0.32338	0.045000	0.14185	3.069000	0.50026	0.527000	0.28560	-0.269000	0.10298	GAT		PASS	0.313	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			40	73	40	73	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37508455	37508455	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:37508455A>G	ENST00000602533.1	+	34	3746	c.3647A>G	c.(3646-3648)gAt>gGt	p.D1216G	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D1216G|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D1335G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1272					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1216G(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATGCAGGAGATGCTCTAAGA	0.373																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3646-3648)GAT>GGT		ankyrin repeat domain 30A							63.0	54.0	57.0					10																	37508455		1878	4096	5974	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508455A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3647A>G	10.37:g.37508455A>G	ENSP00000473551:p.Asp1216Gly						p.D1216G	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3746	+			1272					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3647A>G		.	.	.	.	.	.	.	.	.	.	a	7.988	0.752689	0.15778	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.19250	2.16;2.16	2.91	2.91	0.33838	.	.	.	.	.	T	0.34135	0.0887	M	0.67700	2.07	0.09310	N	0.999999	D	0.55385	0.971	P	0.57101	0.813	T	0.10291	-1.0636	9	0.72032	D	0.01	.	5.9815	0.19409	0.7308:0.2692:0.0:0.0	.	1272	Q9BXX3	AN30A_HUMAN	G	1216;1335	ENSP00000354432:D1216G;ENSP00000363792:D1335G	ENSP00000354432:D1216G	D	+	2	0	ANKRD30A	37548461	0.612000	0.27000	0.147000	0.22382	0.014000	0.08584	2.613000	0.46351	1.201000	0.43203	0.381000	0.24937	GAT		PASS	0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		15	24	15	24	---	---	---	---
ARHGAP22	58504	broad.mit.edu	37	10	49667886	49667886	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:49667886T>C	ENST00000249601.4	-	5	796	c.500A>G	c.(499-501)tAt>tGt	p.Y167C	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.Y183C|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.Y58C|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.Y77C|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.Y173C|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.Y77C	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	167	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.Y167C(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCGGGGGCCATACTTCCGCTC	0.652																																						uc001jgt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)TAT>TGT		Rho GTPase activating protein 2							42.0	43.0	42.0					10																	49667886		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49667886T>C	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.500A>G	10.37:g.49667886T>C	ENSP00000249601:p.Tyr167Cys					ARHGAP22_uc001jgs.2_Missense_Mutation_p.Y77C|ARHGAP22_uc001jgu.2_Missense_Mutation_p.Y183C|ARHGAP22_uc010qgl.1_Missense_Mutation_p.Y124C|ARHGAP22_uc010qgm.1_Missense_Mutation_p.Y173C|ARHGAP22_uc001jgv.2_5'UTR	p.Y167C	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN			5	797	-			167			Rho-GAP.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.500A>G	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625228	0.28889	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T	0.30714	1.52;2.48;1.7;2.48;1.52;1.52	4.9	2.52	0.30459	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.268861	0.38058	N	0.001823	T	0.40473	0.1118	L	0.53780	1.695	0.32302	N	0.564933	B;B;D;B;B	0.71674	0.001;0.012;0.998;0.012;0.011	B;B;D;B;B	0.63192	0.015;0.013;0.912;0.013;0.021	T	0.47275	-0.9130	10	0.39692	T	0.17	.	5.8574	0.18727	0.1523:0.0814:0.0:0.7662	.	173;167;183;167;77	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3	.;.;.;RHG22_HUMAN;.	C	167;58;77;77;173;183	ENSP00000249601:Y167C;ENSP00000363287:Y58C;ENSP00000363285:Y77C;ENSP00000410054:Y77C;ENSP00000416701:Y173C;ENSP00000412461:Y183C	ENSP00000249601:Y167C	Y	-	2	0	ARHGAP22	49337892	0.282000	0.24268	0.477000	0.27303	0.785000	0.44390	0.006000	0.13152	0.352000	0.24053	0.260000	0.18958	TAT		PASS	0.652	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		25	25	25	25	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55849791	55849791	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:55849791A>T	ENST00000320301.6	-	16	2344	c.1950T>A	c.(1948-1950)taT>taA	p.Y650*	PCDH15_ENST00000414778.1_Nonsense_Mutation_p.Y655*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Y628*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.Y650*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.Y650*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.Y650*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Y650*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.Y657*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.Y650*|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Y613*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.Y657*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.Y628*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.Y261*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	650	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.Y655*(2)|p.Y650*(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCAATGGCATATGTTATTG	0.338										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Nonsense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1948-1950)TAT>TAA		protocadherin 15 isoform CD1-4 precursor							66.0	66.0	66.0					10																	55849791		2203	4300	6503	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55849791A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1950T>A	10.37:g.55849791A>T	ENSP00000322604:p.Tyr650*	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Nonsense_Mutation_p.Y655*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.Y650*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.Y662*|PCDH15_uc010qht.1_Nonsense_Mutation_p.Y657*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.Y650*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.Y628*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.Y650*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.Y613*|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Nonsense_Mutation_p.Y655*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.Y650*|PCDH15_uc010qia.1_Nonsense_Mutation_p.Y628*|PCDH15_uc010qib.1_Nonsense_Mutation_p.Y628*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.Y650*	p.Y650*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			16	2345	-		Melanoma(3;0.117)|Lung SC(717;0.238)	650			Cadherin 6.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.1950T>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	40	8.251746	0.98727	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	.	.	.	6.16	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3555	0.26717	0.6047:0.0:0.3953:0.0	.	.	.	.	X	657;655;650;650;261;657;650;613;650;628;628;650;650;655;650	.	ENSP00000322604:Y650X	Y	-	3	2	PCDH15	55519797	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	0.652000	0.24888	0.576000	0.29452	-0.263000	0.10527	TAT		PASS	0.338	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		23	43	23	43	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85973843	85973843	+	Silent	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:85973843C>G	ENST00000372117.3	+	17	2149	c.2046C>G	c.(2044-2046)ctC>ctG	p.L682L	CDHR1_ENST00000440770.2_Silent_p.L386L|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.L682L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTCAGACCCTCTCCCGGAGCC	0.572																																						uc001kcv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2044-2046)CTC>CTG		protocadherin 21 precursor							81.0	85.0	84.0					10																	85973843		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973843C>G	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2046C>G	10.37:g.85973843C>G						CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Silent_p.L386L|CDHR1_uc001kcx.2_5'UTR	p.L682L	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			17	2046	+			682			Cadherin 6.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.2046C>G	CCDS7372.1																																																																																				PASS	0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		45	39	45	39	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692790	89692790	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:89692790G>C	ENST00000371953.3	+	5	1631	c.274G>C	c.(274-276)Gac>Cac	p.D92H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	92	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D92H(4)|p.Y27fs*1(2)|p.D92N(2)|p.D92Y(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCTTTTGAAGACCATAACCC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		59	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(7)|Unknown(5)|Deletion - In frame(2)	p.R55fs*1(4)|p.D92H(3)|p.D92V(2)|p.?(2)|p.Y27fs*1(2)|p.D92G(2)|p.D92N(2)|p.Y27_N212>Y(2)|p.D92fs*7(1)|p.D92Y(1)|p.D92E(1)|p.Q87_P96del(1)|p.D92A(1)|p.F90_P95>L(1)|p.N82_P95del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|lung(7)|breast(7)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(274-276)GAC>CAC		phosphatase and tensin homolog							111.0	102.0	105.0					10																	89692790		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692790G>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.274G>C	10.37:g.89692790G>C	ENSP00000361021:p.Asp92His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.D92H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1305	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	92	D->A: 700-fold reduction in phosphatase activity towards PtdIns(3,4,5)P3. Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation.		Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.274G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616660	0.87359	.	.	ENSG00000171862	ENST00000371953	D	0.99466	-5.95	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97352	0.9964	9	.	.	.	-9.7034	18.4584	0.90729	0.0:0.0:1.0:0.0	.	92	P60484	PTEN_HUMAN	H	92	ENSP00000361021:D92H	.	D	+	1	0	PTEN	89682770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	GAC		PASS	0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		3	53	3	53	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)|R130Q(JHUEM1_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R55fs*1(4)|p.R130P(4)|p.K128_R130del(3)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.R130R(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	c.(388-390)CGA>CAA		phosphatase and tensin homolog							139.0	129.0	133.0					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692905G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R130Q	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1420	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130	R->M: Does not affect the ability to inhibit AKT/PKB activation.	R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.389G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		PASS	0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		17	56	17	56	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336540	98336540	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:98336540G>A	ENST00000371142.4	-	2	365	c.149C>T	c.(148-150)cCc>cTc	p.P50L		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	50						integral component of membrane (GO:0016021)		p.P50L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATTATGGTAGGGCCCAACAGT	0.333																																						uc001kmm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)CCC>CTC		transmembrane 9 superfamily member 3 precursor							110.0	107.0	108.0					10																	98336540		2203	4300	6503	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98336540G>A	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.149C>T	10.37:g.98336540G>A	ENSP00000360184:p.Pro50Leu					TM9SF3_uc010qot.1_Missense_Mutation_p.P50L	p.P50L	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	366	-		Colorectal(252;0.158)	50					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.149C>T	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119514	0.94385	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.61980	0.6;0.06	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80879	-0.1185	10	0.87932	D	0	-6.3254	18.8941	0.92416	0.0:0.0:1.0:0.0	.	50	Q9HD45	TM9S3_HUMAN	L	50;6	ENSP00000360184:P50L;ENSP00000401152:P6L	ENSP00000360184:P50L	P	-	2	0	TM9SF3	98326530	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.313000	0.96297	2.693000	0.91896	0.655000	0.94253	CCC		PASS	0.333	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		17	73	17	73	---	---	---	---
NDUFB8	4714	broad.mit.edu	37	10	102286181	102286181	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:102286181T>A	ENST00000299166.4	-	4	455	c.443A>T	c.(442-444)gAc>gTc	p.D148V	NDUFB8_ENST00000557395.1_Missense_Mutation_p.D148V|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000531258.1_Missense_Mutation_p.D148V|NDUFB8_ENST00000370322.1_Missense_Mutation_p.D117V|NDUFB8_ENST00000370320.4_Missense_Mutation_p.D148V	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	148					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.D148V(1)|p.D148G(1)		endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		AGGGTACACGTCCCCCACCCA	0.532																																						uc001kri.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(442-444)GAC>GTC		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						104.0	85.0	91.0					10																	102286181		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.chr10:102286181T>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.443A>T	10.37:g.102286181T>A	ENSP00000299166:p.Asp148Val					SEC31B_uc009xwo.1_5'UTR|SEC31B_uc010qpq.1_Intron|SEC31B_uc010qpr.1_RNA	p.D148V	NM_005004	NP_004995	O95169	NDUB8_HUMAN		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	4	471	-		Colorectal(252;0.234)	148			Helical; (Potential).		A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Missense_Mutation	SNP	ENST00000299166.4	37	c.443A>T	CCDS7497.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962456	0.53400	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370322;ENST00000370320	.	.	.	5.69	5.69	0.88448	.	0.484255	0.24449	N	0.038431	T	0.46619	0.1402	N	0.19112	0.55	0.80722	D	1	P	0.34615	0.459	B	0.35971	0.215	T	0.50171	-0.8859	9	0.52906	T	0.07	-4.9033	15.9538	0.79865	0.0:0.0:0.0:1.0	.	148	O95169	NDUB8_HUMAN	V	148;148;117;148	.	ENSP00000299166:D148V	D	-	2	0	NDUFB8	102276171	0.996000	0.38824	0.394000	0.26270	0.008000	0.06430	3.238000	0.51352	2.185000	0.69588	0.454000	0.30748	GAC		PASS	0.532	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051225.1	NM_005004		22	21	22	21	---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111631611	111631611	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:111631611G>T	ENST00000502935.1	-	17	1580	c.1461C>A	c.(1459-1461)ttC>ttA	p.F487L	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.F373L|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.F463L|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.F444L					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.F444L(1)|p.F487L(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGACATATGTGAAGCATTCCT	0.483																																						uc001kyp.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(1330-1332)TTC>TTA		X-prolyl aminopeptidase (aminopeptidase P) 1,							90.0	87.0	88.0					10																	111631611		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111631611G>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1461C>A	10.37:g.111631611G>T	ENSP00000421566:p.Phe487Leu					XPNPEP1_uc009xxt.1_Missense_Mutation_p.F463L|XPNPEP1_uc001kyq.1_Missense_Mutation_p.F373L	p.F444L	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	17	1472	-		Breast(234;0.174)	444						Missense_Mutation	SNP	ENST00000502935.1	37	c.1332C>A	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169065	0.78339	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	6.17	4.33	0.51752	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.85099	2.735	0.49483	D	0.999798	D;D	0.89917	1.0;1.0	D;D	0.79784	0.981;0.993	D	0.87229	0.2259	10	0.87932	D	0	-19.8104	10.272	0.43489	0.2026:0.0:0.7974:0.0	.	487;444	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	L	487;373;463;444	ENSP00000421566:F487L;ENSP00000358697:F373L;ENSP00000324011:F463L;ENSP00000358694:F444L	ENSP00000324011:F463L	F	-	3	2	XPNPEP1	111621601	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.200000	0.32247	1.633000	0.50488	-0.137000	0.14449	TTC		PASS	0.483	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			44	49	44	49	---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112258257	112258257	+	Splice_Site	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:112258257A>T	ENST00000369583.3	+	1	662	c.378A>T	c.(376-378)aaA>aaT	p.K126N	RP11-525A16.4_ENST00000609514.1_lincRNA	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	126	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K126N(2)		kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		ACTTCCTCAAAGGTGAGCGCT	0.736																																						uc001kzd.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(376-378)AAA>AAT		dual specificity phosphatase 5							5.0	6.0	6.0					10																	112258257		2005	3974	5979	SO:0001630	splice_region_variant	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112258257A>T	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.379+1A>T	10.37:g.112258257A>T							p.K126N	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	1	633	+		Breast(234;0.0848)	126			Rhodanese.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.378A>T	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850042	0.71603	.	.	ENSG00000138166	ENST00000369583	T	0.25749	1.78	4.63	4.63	0.57726	Rhodanese-like (5);	0.046855	0.85682	D	0.000000	T	0.31979	0.0814	M	0.79926	2.475	0.58432	D	0.999999	P	0.38677	0.642	B	0.39503	0.301	T	0.22521	-1.0214	10	0.72032	D	0.01	.	8.0615	0.30635	0.9079:0.0:0.0921:0.0	.	126	Q16690	DUS5_HUMAN	N	126	ENSP00000358596:K126N	ENSP00000358596:K126N	K	+	3	2	DUSP5	112248247	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.961000	0.56759	1.712000	0.51347	0.373000	0.22412	AAA		PASS	0.736	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419	Missense_Mutation	2	1	2	1	---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115345564	115345564	+	Missense_Mutation	SNP	G	G	A	rs373829826		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:115345564G>A	ENST00000351270.3	+	12	1481	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	HABP2_ENST00000542051.1_Missense_Mutation_p.R436H	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	462	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.R462H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AAAGGGTCCCGCCAGCTCCTG	0.532																																						uc001lai.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1384-1386)CGC>CAC		hyaluronan binding protein 2 preproprotein		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	91.0	76.0	81.0		1307,1385	4.2	1.0	10		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HABP2	NM_001177660.1,NM_004132.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	436/535,462/561	115345564	1,13005	2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115345564G>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1385G>A	10.37:g.115345564G>A	ENSP00000277903:p.Arg462His						p.R462H	NM_004132	NP_004123	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	12	1488	+		Colorectal(252;0.0233)|Breast(234;0.0672)	462			Peptidase S1.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.1385G>A	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211518	0.39102	0.0	1.16E-4	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.88741	-2.42;-2.42	6.03	4.17	0.49024	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.513687	0.23169	N	0.051152	T	0.75177	0.3814	N	0.25060	0.705	0.80722	D	1	B	0.33549	0.417	B	0.24541	0.054	T	0.71836	-0.4472	10	0.42905	T	0.14	.	2.4038	0.04407	0.2299:0.1271:0.5121:0.1309	.	462	Q14520	HABP2_HUMAN	H	436;462	ENSP00000443283:R436H;ENSP00000277903:R462H	ENSP00000277903:R462H	R	+	2	0	HABP2	115335554	0.624000	0.27102	1.000000	0.80357	0.739000	0.42172	0.598000	0.24074	1.562000	0.49601	0.655000	0.94253	CGC		PASS	0.532	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		22	15	22	15	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117486838	117486838	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:117486838A>C	ENST00000355044.3	+	27	4002	c.3876A>C	c.(3874-3876)caA>caC	p.Q1292H	ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q343H|ATRNL1_ENST00000303745.7_Missense_Mutation_p.Q85H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1292					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.Q1292H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAGCTGAACAAACAGAGTTTC	0.473																																						uc001lcg.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3874-3876)CAA>CAC		attractin-like 1 precursor							53.0	48.0	50.0					10																	117486838		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117486838A>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3876A>C	10.37:g.117486838A>C	ENSP00000347152:p.Gln1292His					ATRNL1_uc010qsm.1_Missense_Mutation_p.Q421H|ATRNL1_uc010qsn.1_RNA	p.Q1292H	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	27	4262	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1292			Cytoplasmic (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3876A>C	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.954115	0.34471	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.44881	0.91;0.91;0.91	5.77	-0.0676	0.13759	.	0.369945	0.30329	N	0.009878	T	0.24586	0.0596	L	0.40543	1.245	0.33414	D	0.579045	P;B	0.36438	0.553;0.0	B;B	0.32465	0.146;0.001	T	0.26189	-1.0110	10	0.22706	T	0.39	-3.6998	5.5599	0.17137	0.5686:0.264:0.1674:0.0	.	343;1292	B4DH41;Q5VV63	.;ATRN1_HUMAN	H	1292;343;85	ENSP00000347152:Q1292H;ENSP00000409624:Q343H;ENSP00000307660:Q85H	ENSP00000307660:Q85H	Q	+	3	2	ATRNL1	117476828	0.999000	0.42202	0.989000	0.46669	0.951000	0.60555	1.048000	0.30379	-0.108000	0.12066	-0.321000	0.08615	CAA		PASS	0.473	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		3	31	3	31	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127753428	127753428	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:127753428T>C	ENST00000368679.4	-	14	1874	c.1565A>G	c.(1564-1566)tAc>tGc	p.Y522C	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.Y522C	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	522	Cys-rich.				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.Y522C(3)		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)		GATGCCATTGTAGCAGTAGCC	0.617																																						uc001ljk.2																			3	Substitution - Missense(3)		lung(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(1564-1566)TAC>TGC		ADAM metallopeptidase domain 12 isoform 1							124.0	89.0	101.0					10																	127753428		2203	4300	6503	SO:0001583	missense	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.chr10:127753428T>C	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.1565A>G	10.37:g.127753428T>C	ENSP00000357668:p.Tyr522Cys					ADAM12_uc010qul.1_Missense_Mutation_p.Y473C|ADAM12_uc001ljm.2_Missense_Mutation_p.Y522C|ADAM12_uc001ljn.2_Missense_Mutation_p.Y519C|ADAM12_uc001ljl.3_Missense_Mutation_p.Y519C	p.Y522C	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	14	1978	-		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)	522			Extracellular (Potential).|Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1565A>G	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703520	0.88924	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.26518	1.73;1.73	5.11	5.11	0.69529	ADAM, cysteine-rich (2);	0.000000	0.64402	D	0.000001	T	0.66228	0.2768	H	0.97214	3.96	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.995;0.991;0.991;0.991;0.998	T	0.79676	-0.1704	10	0.87932	D	0	.	15.0789	0.72099	0.0:0.0:0.0:1.0	.	519;519;522;519;522	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	C	522	ENSP00000357668:Y522C;ENSP00000357665:Y522C	ENSP00000357665:Y522C	Y	-	2	0	ADAM12	127743418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.772000	0.85439	2.145000	0.66743	0.528000	0.53228	TAC		PASS	0.617	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			9	5	9	5	---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	129046349	129046349	+	Silent	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr10:129046349T>C	ENST00000280333.6	+	28	2971	c.2862T>C	c.(2860-2862)ttT>ttC	p.F954F	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	954					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.F954F(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCAAGACTTTTGGGAAAATGA	0.393																																						uc001ljt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(2860-2862)TTT>TTC		dedicator of cytokinesis 1							117.0	109.0	112.0					10																	129046349		1904	4116	6020	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129046349T>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2862T>C	10.37:g.129046349T>C						DOCK1_uc010qun.1_Silent_p.F975F	p.F954F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	28	2926	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	954					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.2862T>C																																																																																					PASS	0.393	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		24	21	24	21	---	---	---	---
CD151	977	broad.mit.edu	37	11	837554	837554	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:837554G>A	ENST00000397420.3	+	7	800	c.551G>A	c.(550-552)tGc>tAc	p.C184Y	CD151_ENST00000397421.1_Missense_Mutation_p.C184Y|CD151_ENST00000528011.1_Missense_Mutation_p.C184Y|CD151_ENST00000322008.4_Missense_Mutation_p.C184Y			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	184					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)	p.C184Y(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGACAGCTGCTGCAAGACG	0.602																																					Esophageal Squamous(14;501 559 15826 37823 38305)	uc001lry.2																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)TGC>TAC		CD151 antigen							107.0	100.0	102.0					11																	837554		2203	4298	6501	SO:0001583	missense	977				cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding	g.chr11:837554G>A	AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"""CD molecules"", ""Blood group antigens"", ""Tetraspanins"""	1630	protein-coding gene	gene with protein product		602243	"""CD151 antigen"", ""CD151 antigen (Raph blood group)"""			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.551G>A	11.37:g.837554G>A	ENSP00000380565:p.Cys184Tyr					CD151_uc001lrx.2_RNA|CD151_uc001lrz.2_Missense_Mutation_p.C184Y|CD151_uc001lsa.2_Missense_Mutation_p.C184Y|CD151_uc001lsb.2_Missense_Mutation_p.C184Y	p.C184Y	NM_004357	NP_004348	P48509	CD151_HUMAN		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	695	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	184			Extracellular (Potential).		A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	ENST00000397420.3	37	c.551G>A	CCDS7719.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.158994	0.57368	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000528143;ENST00000528011	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	4.17	4.17	0.49024	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.96762	0.8943	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98607	1.0661	10	0.87932	D	0	.	16.2631	0.82557	0.0:0.0:1.0:0.0	.	184	P48509	CD151_HUMAN	Y	184;184;184;159;60;184	ENSP00000380565:C184Y;ENSP00000324101:C184Y;ENSP00000380566:C184Y;ENSP00000432258:C159Y;ENSP00000432990:C184Y	ENSP00000324101:C184Y	C	+	2	0	CD151	827554	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	9.259000	0.95561	2.171000	0.68590	0.561000	0.74099	TGC		PASS	0.602	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	NM_004357		21	21	21	21	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1258386	1258386	+	Missense_Mutation	SNP	C	C	G	rs35573593		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:1258386C>G	ENST00000529681.1	+	25	3347	c.3289C>G	c.(3289-3291)Cgc>Ggc	p.R1097G	MUC5B_ENST00000447027.1_Missense_Mutation_p.R1100G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1097	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.R1100G(1)|p.R1097G(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCCGCCTGCCGCTCCCAGGT	0.687																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(5368-5370)CGC>GGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							12.0	18.0	16.0					11																	1258386		1926	4093	6019	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1258386C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3289C>G	11.37:g.1258386C>G	ENSP00000436812:p.Arg1097Gly					MUC5B_uc009yct.1_Missense_Mutation_p.R1097G|MUC5B_uc001ltb.2_Missense_Mutation_p.R1100G|MUC5B_uc001lta.2_Missense_Mutation_p.R765G	p.R1790G	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	41	5494	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1097			VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5368C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301720	0.23736	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.75938	-0.98;-0.98	4.38	4.38	0.52667	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.77478	0.4136	L	0.42581	1.335	0.35371	D	0.789067	P;D;D	0.52996	0.653;0.957;0.957	B;P;P	0.53146	0.192;0.719;0.719	D	0.85176	0.1001	9	0.87932	D	0	.	16.9469	0.86232	0.0:1.0:0.0:0.0	.	1097;1790;1100	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	1097;1100;1098;1167	ENSP00000436812:R1097G;ENSP00000415793:R1100G	ENSP00000343037:R1098G	R	+	1	0	MUC5B	1214962	1.000000	0.71417	0.668000	0.29813	0.007000	0.05969	4.850000	0.62889	1.974000	0.57490	0.462000	0.41574	CGC		PASS	0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		7	7	7	7	---	---	---	---
OR51A7	119687	broad.mit.edu	37	11	4928880	4928880	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:4928880C>A	ENST00000359350.4	+	1	281	c.281C>A	c.(280-282)cCt>cAt	p.P94H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P94H(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAATTTCACCTAATGCCTGC	0.453																																						uc010qyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(280-282)CCT>CAT		olfactory receptor, family 51, subfamily A,							149.0	129.0	136.0					11																	4928880		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928880C>A	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.281C>A	11.37:g.4928880C>A	ENSP00000352305:p.Pro94His						p.P94H	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	281	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	94			Extracellular (Potential).		Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.281C>A	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	2.353	-0.348498	0.05208	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.02944	4.1	4.78	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.158118	0.29987	N	0.010693	T	0.03263	0.0095	L	0.33753	1.03	0.09310	N	1	B	0.15719	0.014	B	0.21151	0.033	T	0.36672	-0.9738	10	0.44086	T	0.13	.	12.0707	0.53616	0.1733:0.8266:0.0:0.0	.	94	Q8NH64	O51A7_HUMAN	H	94;94;83	ENSP00000352305:P94H	ENSP00000352305:P94H	P	+	2	0	OR51A7	4885456	0.000000	0.05858	0.934000	0.37439	0.505000	0.33919	-0.778000	0.04664	1.203000	0.43233	0.655000	0.94253	CCT		PASS	0.453	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		38	37	38	37	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17482100	17482100	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:17482100C>T	ENST00000389817.3	-	6	1014	c.946G>A	c.(946-948)Ggg>Agg	p.G316R	ABCC8_ENST00000302539.4_Missense_Mutation_p.G316R			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	316	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.G316R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CACAGTGGCCCGGCGAAGCCC	0.647																																						uc001mnc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(946-948)GGG>AGG		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						94.0	92.0	93.0					11																	17482100		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17482100C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.946G>A	11.37:g.17482100C>T	ENSP00000374467:p.Gly316Arg					ABCC8_uc010rcy.1_Missense_Mutation_p.G315R	p.G316R	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	6	1072	-			316			Helical; Name=6; (By similarity).|ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.946G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402605	0.96030	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.94650	-3.48;-3.48	5.77	5.77	0.91146	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	M	0.89414	3.03	0.80722	D	1	P;P	0.38455	0.562;0.632	B;B	0.37989	0.26;0.262	D	0.95800	0.8832	10	0.72032	D	0.01	.	19.9983	0.97395	0.0:1.0:0.0:0.0	.	315;316	B7Z4N0;Q09428	.;ABCC8_HUMAN	R	316;316;330	ENSP00000374467:G316R;ENSP00000303960:G316R	ENSP00000303960:G316R	G	-	1	0	ABCC8	17438676	1.000000	0.71417	0.933000	0.37362	0.859000	0.49053	7.818000	0.86416	2.724000	0.93272	0.561000	0.74099	GGG		PASS	0.647	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		49	184	49	184	---	---	---	---
MRGPRX4	117196	broad.mit.edu	37	11	18195011	18195011	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:18195011G>T	ENST00000314254.3	+	1	628	c.208G>T	c.(208-210)Gca>Tca	p.A70S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A70S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAACCTGGCCGCAGCAGACTT	0.527																																						uc001mnv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(208-210)GCA>TCA		MAS-related GPR, member X4							112.0	94.0	100.0					11																	18195011		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195011G>T	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.208G>T	11.37:g.18195011G>T	ENSP00000314042:p.Ala70Ser						p.A70S	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	628	+			70			Helical; Name=2; (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.208G>T	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	8.152	0.787652	0.16258	.	.	ENSG00000179817	ENST00000314254	T	0.19938	2.11	2.95	0.987	0.19790	GPCR, rhodopsin-like superfamily (1);	1.786980	0.02851	N	0.129117	T	0.29256	0.0728	M	0.65975	2.015	0.09310	N	1	B	0.25719	0.132	B	0.34652	0.187	T	0.34403	-0.9830	10	0.59425	D	0.04	.	5.2878	0.15710	0.4159:0.0:0.5841:0.0	.	70	Q96LA9	MRGX4_HUMAN	S	70	ENSP00000314042:A70S	ENSP00000314042:A70S	A	+	1	0	MRGPRX4	18151587	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.247000	0.08866	0.126000	0.18424	-0.350000	0.07774	GCA		PASS	0.527	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		82	53	82	53	---	---	---	---
MRGPRX4	117196	broad.mit.edu	37	11	18195313	18195313	+	Silent	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:18195313T>C	ENST00000314254.3	+	1	930	c.510T>C	c.(508-510)tcT>tcC	p.S170S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S170S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTGCTGATTCTAGTTGGTGTG	0.517																																						uc001mnv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(508-510)TCT>TCC		MAS-related GPR, member X4							278.0	262.0	267.0					11																	18195313		2199	4293	6492	SO:0001819	synonymous_variant	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195313T>C	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.510T>C	11.37:g.18195313T>C							p.S170S	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	930	+			170			Extracellular (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Silent	SNP	ENST00000314254.3	37	c.510T>C	CCDS7831.1																																																																																				PASS	0.517	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		258	196	258	196	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19735336	19735336	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:19735336C>A	ENST00000396087.3	+	1	194	c.95C>A	c.(94-96)gCg>gAg	p.A32E	NAV2_ENST00000396085.1_Missense_Mutation_p.A32E|RP11-359E10.1_ENST00000603468.1_lincRNA|NAV2_ENST00000349880.4_Missense_Mutation_p.A32E|NAV2_ENST00000360655.4_Intron	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	32					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.A32E(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ccggcccgggcgggcccccAG	0.657																																						uc010rdm.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(94-96)GCG>GAG		neuron navigator 2 isoform 2							18.0	20.0	19.0					11																	19735336		2194	4290	6484	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19735336C>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.95C>A	11.37:g.19735336C>A	ENSP00000379396:p.Ala32Glu					NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Missense_Mutation_p.A32E|LOC100126784_uc010rdl.1_3'UTR	p.A32E	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			1	456	+			32					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.95C>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778483	0.70107	.	.	ENSG00000166833	ENST00000396085;ENST00000349880;ENST00000396087	T;T;T	0.59906	0.23;0.23;0.23	5.37	4.46	0.54185	.	0.111342	0.39687	N	0.001293	T	0.39253	0.1071	N	0.14661	0.345	0.80722	D	1	B	0.33238	0.403	B	0.30179	0.112	T	0.17684	-1.0361	9	.	.	.	.	15.7659	0.78126	0.0:0.863:0.1369:0.0	.	32	Q8IVL1-3	.	E	32	ENSP00000379394:A32E;ENSP00000309577:A32E;ENSP00000379396:A32E	.	A	+	2	0	NAV2	19691912	1.000000	0.71417	0.752000	0.31206	0.964000	0.63967	5.435000	0.66532	1.245000	0.43885	0.561000	0.74099	GCG		PASS	0.657	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		29	27	29	27	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46782308	46782308	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:46782308G>A	ENST00000529230.1	-	33	4294	c.4248C>T	c.(4246-4248)ctC>ctT	p.L1416L	CKAP5_ENST00000312055.5_Silent_p.L1416L|SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000354558.3_Silent_p.L1416L|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Silent_p.L1416L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1416					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.L1416L(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCCTCTCCTCGAGCATGCTCA	0.403																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(4246-4248)CTC>CTT		colonic and hepatic tumor over-expressed protein							127.0	117.0	120.0					11																	46782308		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46782308G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4248C>T	11.37:g.46782308G>A						CKAP5_uc009ylg.1_Silent_p.L1302L|CKAP5_uc001ndj.1_Silent_p.L1416L|CKAP5_uc001ndh.1_Silent_p.L345L	p.L1416L	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			33	4358	-			1416					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.4248C>T	CCDS31477.1																																																																																				PASS	0.403	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		8	90	8	90	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003685	50003685	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:50003685C>G	ENST00000335238.4	-	1	386	c.353G>C	c.(352-354)tGt>tCt	p.C118S		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C118S(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						ATAGCAGTCACAGGCCATCAC	0.488																																						uc010ria.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(352-354)TGT>TCT		olfactory receptor, family 4, subfamily C,							151.0	150.0	150.0					11																	50003685		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003685C>G	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.353G>C	11.37:g.50003685C>G	ENSP00000334418:p.Cys118Ser						p.C118S	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	353	-			118			Helical; Name=3; (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.353G>C	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	10.16	1.274052	0.23221	.	.	ENSG00000221954	ENST00000335238	T	0.00388	7.59	3.31	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.396815	0.18174	U	0.149357	T	0.00241	0.0007	N	0.20986	0.625	0.24501	N	0.994254	B	0.16603	0.018	B	0.24394	0.053	T	0.41251	-0.9519	10	0.87932	D	0	.	6.7254	0.23353	0.0:0.1227:0.0:0.8773	.	118	Q96R67	OR4CC_HUMAN	S	118	ENSP00000334418:C118S	ENSP00000334418:C118S	C	-	2	0	OR4C12	49960261	0.999000	0.42202	1.000000	0.80357	0.889000	0.51656	2.267000	0.43329	0.485000	0.27652	-0.555000	0.04198	TGT		PASS	0.488	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		79	115	79	115	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51516092	51516092	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:51516092A>T	ENST00000328188.1	+	1	811	c.811A>T	c.(811-813)Ata>Tta	p.I271L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I271L(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGCAGTTGCTATATTCTACAC	0.388																																						uc010ric.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(811-813)ATA>TTA		olfactory receptor, family 4, subfamily C,							78.0	66.0	70.0					11																	51516092		2200	4283	6483	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51516092A>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.811A>T	11.37:g.51516092A>T	ENSP00000329056:p.Ile271Leu						p.I271L	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	811	+			271			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.811A>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	0.607	-0.826580	0.02734	.	.	ENSG00000185926	ENST00000328188	T	0.00076	8.76	2.47	-0.934	0.10428	GPCR, rhodopsin-like superfamily (1);	0.597834	0.13784	N	0.363025	T	0.00039	0.0001	N	0.01289	-0.905	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.29701	-1.0003	10	0.49607	T	0.09	.	0.4215	0.00457	0.2709:0.1951:0.3355:0.1985	.	271	A6NHA9	O4C46_HUMAN	L	271	ENSP00000329056:I271L	ENSP00000329056:I271L	I	+	1	0	OR4C46	51372668	0.000000	0.05858	0.013000	0.15412	0.029000	0.11900	0.059000	0.14322	-0.040000	0.13580	-1.550000	0.00899	ATA		PASS	0.388	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		21	48	21	48	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55110791	55110791	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:55110791G>A	ENST00000314721.2	+	1	165	c.115G>A	c.(115-117)Gga>Aga	p.G39R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G39R(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GACAATGGTGGGAAACCTCCT	0.418																																						uc010rie.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(115-117)GGA>AGA		olfactory receptor, family 4, subfamily A,							120.0	112.0	115.0					11																	55110791		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110791G>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.115G>A	11.37:g.55110791G>A	ENSP00000325128:p.Gly39Arg						p.G39R	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	115	+			39			Helical; Name=1; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.115G>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	9.470	1.095276	0.20471	.	.	ENSG00000181961	ENST00000314721	T	0.04406	3.63	2.41	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17280	0.0415	M	0.93462	3.42	0.19945	N	0.999945	P	0.41450	0.75	P	0.45998	0.5	T	0.05007	-1.0912	9	0.87932	D	0	.	10.4813	0.44695	0.0:0.0:1.0:0.0	.	39	Q8NH70	O4A16_HUMAN	R	39	ENSP00000325128:G39R	ENSP00000325128:G39R	G	+	1	0	OR4A16	54867367	0.767000	0.28508	0.801000	0.32222	0.027000	0.11550	2.284000	0.43478	1.353000	0.45828	0.185000	0.17295	GGA		PASS	0.418	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		24	73	24	73	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55322712	55322712	+	Silent	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:55322712A>G	ENST00000314644.2	+	1	930	c.930A>G	c.(928-930)gtA>gtG	p.V310V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V310V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCATATTTGTATATACACGAC	0.413										HNSCC(20;0.049)																												uc010rig.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(928-930)GTA>GTG		olfactory receptor, family 4, subfamily C,							241.0	236.0	238.0					11																	55322712		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322712A>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.930A>G	11.37:g.55322712A>G		HNSCC(20;0.049)					p.V310V	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	930	+			256			Helical; Name=6; (Potential).		Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.930A>G	CCDS31501.1																																																																																				PASS	0.413	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		80	122	80	122	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735395	55735395	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:55735395T>A	ENST00000312345.2	-	1	595	c.545A>T	c.(544-546)aAc>aTc	p.N182I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N182I(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)					CACAAATATGTTTCCACAAGC	0.398																																						uc010rit.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(544-546)AAC>ATC		olfactory receptor, family 10, subfamily AG,							83.0	83.0	83.0					11																	55735395		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735395T>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.545A>T	11.37:g.55735395T>A	ENSP00000311477:p.Asn182Ile						p.N182I	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	545	-	Esophageal squamous(21;0.0137)		182			Extracellular (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.545A>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.759645	0.31137	.	.	ENSG00000174970	ENST00000312345	T	0.00169	8.63	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.212056	0.33217	N	0.005144	T	0.00241	0.0007	L	0.58354	1.805	0.23138	N	0.998231	B	0.24092	0.097	B	0.21546	0.035	T	0.43540	-0.9385	10	0.87932	D	0	.	13.4553	0.61195	0.0:0.0:0.0:1.0	.	182	Q8NH19	O10AG_HUMAN	I	182	ENSP00000311477:N182I	ENSP00000311477:N182I	N	-	2	0	OR10AG1	55491971	0.432000	0.25554	0.854000	0.33618	0.370000	0.29829	3.911000	0.56378	2.076000	0.62316	0.391000	0.25812	AAC		PASS	0.398	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		4	36	4	36	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904407	55904407	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:55904407T>A	ENST00000301529.1	-	1	787	c.788A>T	c.(787-789)cAa>cTa	p.Q263L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q263L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GTGGTTGGTTTGGGGCTGCAA	0.428																																						uc010riz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(787-789)CAA>CTA		olfactory receptor, family 8, subfamily J,							135.0	132.0	133.0					11																	55904407		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904407T>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.788A>T	11.37:g.55904407T>A	ENSP00000301529:p.Gln263Leu						p.Q263L	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	788	-	Esophageal squamous(21;0.00693)		263			Extracellular (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.788A>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	6.738	0.504907	0.12822	.	.	ENSG00000167822	ENST00000301529	T	0.00099	8.73	3.27	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.872753	0.09883	N	0.743404	T	0.00109	0.0003	N	0.11724	0.165	0.09310	N	1	B	0.19445	0.036	B	0.29440	0.102	T	0.24190	-1.0167	10	0.72032	D	0.01	.	4.0564	0.09818	0.0:0.2176:0.3169:0.4654	.	263	Q8NGG0	OR8J3_HUMAN	L	263	ENSP00000301529:Q263L	ENSP00000301529:Q263L	Q	-	2	0	OR8J3	55660983	0.000000	0.05858	0.099000	0.21106	0.263000	0.26337	-3.891000	0.00341	1.272000	0.44329	0.247000	0.18012	CAA		PASS	0.428	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		31	86	31	86	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468108	56468108	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:56468108T>A	ENST00000312153.1	+	1	245	c.245T>A	c.(244-246)gTg>gAg	p.V82E		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V82E(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AAGATCCTAGTGACCTGCATC	0.483																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)GTG>GAG		olfactory receptor, family 9, subfamily G,							131.0	127.0	128.0					11																	56468108		2201	4294	6495	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468108T>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.245T>A	11.37:g.56468108T>A	ENSP00000309012:p.Val82Glu						p.V82E	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	245	+			82			Helical; Name=2; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.245T>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	T	1.950	-0.441506	0.04604	.	.	ENSG00000174914	ENST00000312153	T	0.00008	9.62	4.54	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	1.224930	0.05874	N	0.625182	T	0.00073	0.0002	L	0.27944	0.81	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.19484	-1.0304	10	0.39692	T	0.17	0.3427	6.5484	0.22418	0.0:0.0829:0.1546:0.7625	.	82	Q8NH87	OR9G1_HUMAN	E	82	ENSP00000309012:V82E	ENSP00000309012:V82E	V	+	2	0	OR9G1	56224684	0.000000	0.05858	0.124000	0.21820	0.030000	0.12068	-1.862000	0.01653	0.813000	0.34350	0.477000	0.44152	GTG		PASS	0.483	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		14	138	14	138	---	---	---	---
MS4A13	503497	broad.mit.edu	37	11	60296849	60296849	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:60296849G>T	ENST00000378186.2	+	6	641	c.318G>T	c.(316-318)agG>agT	p.R106S	MS4A13_ENST00000437058.2_Missense_Mutation_p.R47S|MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000378185.2_Missense_Mutation_p.R66S	NM_001012417.2	NP_001012417.2	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	113						integral component of membrane (GO:0016021)		p.R106S(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						AACTTGGGAGGGAAGTATCAC	0.373																																						uc001nps.2																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)AGG>AGT		membrane-spanning 4-domains, subfamily A, member							157.0	158.0	158.0					11																	60296849		2203	4300	6503	SO:0001583	missense	503497					integral to membrane		g.chr11:60296849G>T	AY324188	CCDS31571.1, CCDS41653.1, CCDS60801.1	11q12.2	2005-12-05	2005-12-05		ENSG00000204979	ENSG00000204979			16674	protein-coding gene	gene with protein product							Standard	NM_001012417		Approved		uc001nps.3	Q5J8X5	OTTHUMG00000167615	ENST00000378186.2:c.318G>T	11.37:g.60296849G>T	ENSP00000367428:p.Arg106Ser					MS4A13_uc009ync.2_Missense_Mutation_p.R66S|MS4A13_uc009ynd.2_Missense_Mutation_p.R47S	p.R106S	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN			6	641	+			106					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000378186.2	37	c.318G>T	CCDS31571.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521861	0.44866	.	.	ENSG00000204979	ENST00000378186;ENST00000378185;ENST00000437058	T;T;T	0.32023	4.44;1.79;1.47	4.31	0.262	0.15597	.	0.000000	0.51477	D	0.000081	T	0.43366	0.1244	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.19451	-1.0305	10	0.48119	T	0.1	-21.5118	6.3636	0.21443	0.455:0.0:0.545:0.0	.	47;66;106	Q5J8X5-3;Q5J8X5-2;Q5J8X5	.;.;M4A13_HUMAN	S	106;66;47	ENSP00000367428:R106S;ENSP00000367427:R66S;ENSP00000415535:R47S	ENSP00000367427:R66S	R	+	3	2	MS4A13	60053425	1.000000	0.71417	0.863000	0.33907	0.785000	0.44390	0.255000	0.18333	0.052000	0.16007	0.484000	0.47621	AGG		PASS	0.373	MS4A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395408.1	NM_001012417		11	60	11	60	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62289139	62289139	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:62289139C>A	ENST00000378024.4	-	5	13024	c.12750G>T	c.(12748-12750)atG>atT	p.M4250I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4250					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.M4250I(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTGATGTTCATCTCAGGCA	0.468																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(12748-12750)ATG>ATT		AHNAK nucleoprotein isoform 1							213.0	222.0	219.0					11																	62289139		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62289139C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12750G>T	11.37:g.62289139C>A	ENSP00000367263:p.Met4250Ile					AHNAK_uc001ntk.1_Intron	p.M4250I	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13050	-		Melanoma(852;0.155)	4250					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12750G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	2.569	-0.300102	0.05532	.	.	ENSG00000124942	ENST00000378024	T	0.01126	5.3	4.88	2.93	0.34026	.	0.151071	0.31221	N	0.008037	T	0.01976	0.0062	M	0.71920	2.185	0.24607	N	0.993745	B	0.06786	0.001	B	0.10450	0.005	T	0.40979	-0.9534	10	0.17369	T	0.5	.	13.351	0.60601	0.0:0.6995:0.3005:0.0	.	4250	Q09666	AHNK_HUMAN	I	4250	ENSP00000367263:M4250I	ENSP00000367263:M4250I	M	-	3	0	AHNAK	62045715	.	.	0.237000	0.24090	0.002000	0.02628	.	.	0.437000	0.26423	0.543000	0.68304	ATG		PASS	0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		96	291	96	291	---	---	---	---
SYVN1	84447	broad.mit.edu	37	11	64895953	64895953	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:64895953C>T	ENST00000377190.3	-	16	1849	c.1755G>A	c.(1753-1755)gaG>gaA	p.E585E	SYVN1_ENST00000307289.6_Silent_p.E533E|SYVN1_ENST00000294256.8_Silent_p.E584E|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000526060.1_Silent_p.E584E	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	585					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)	p.E585E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGCCCACTGACTCAGGAGCTG	0.617																																						uc001odb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1753-1755)GAG>GAA		synoviolin 1 isoform b							39.0	46.0	44.0					11																	64895953		2201	4297	6498	SO:0001819	synonymous_variant	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64895953C>T	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1755G>A	11.37:g.64895953C>T						SYVN1_uc001odc.2_Silent_p.E584E|SYVN1_uc009yqc.2_Silent_p.E533E	p.E585E	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN			16	1849	-			585			Cytoplasmic (Potential).		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	c.1755G>A	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	c	6.993	0.553430	0.13374	.	.	ENSG00000162298	ENST00000434219	.	.	.	4.73	3.82	0.43975	.	.	.	.	.	T	0.54775	0.1879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48007	-0.9072	5	0.25106	T	0.35	-0.1046	8.8267	0.35059	0.0:0.8983:0.0:0.1017	.	.	.	.	N	585	.	ENSP00000412962:S585N	S	-	2	0	SYVN1	64652529	0.996000	0.38824	0.989000	0.46669	0.993000	0.82548	1.190000	0.32126	1.217000	0.43442	0.550000	0.68814	AGT		PASS	0.617	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		5	57	5	57	---	---	---	---
DPF2	5977	broad.mit.edu	37	11	65113767	65113767	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:65113767G>T	ENST00000528416.1	+	9	1087	c.954G>T	c.(952-954)aaG>aaT	p.K318N	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.K332N	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	318					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)	p.K318N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CGGCAGTGAAGACATACCGCT	0.567																																						uc001odm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(952-954)AAG>AAT		D4, zinc and double PHD fingers family 2							153.0	115.0	128.0					11																	65113767		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113767G>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.954G>T	11.37:g.65113767G>T	ENSP00000436901:p.Lys318Asn					DPF2_uc001odn.2_Missense_Mutation_p.K332N|DPF2_uc010roe.1_Intron	p.K318N	NM_006268	NP_006259	Q92785	REQU_HUMAN			9	966	+			318			PHD-type 1.		A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.954G>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276512	0.80580	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.87029	-2.2;-2.2	5.62	4.71	0.59529	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (2);	0.000000	0.39544	N	0.001340	D	0.92694	0.7678	M	0.76838	2.35	0.52099	D	0.999947	D	0.76494	0.999	D	0.85130	0.997	D	0.93202	0.6592	10	0.87932	D	0	-23.0303	12.1807	0.54210	0.0829:0.0:0.9171:0.0	.	318	Q92785	REQU_HUMAN	N	318;332	ENSP00000436901:K318N;ENSP00000252268:K332N	ENSP00000252268:K332N	K	+	3	2	DPF2	64870343	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.394000	0.59671	1.393000	0.46605	0.561000	0.74099	AAG		PASS	0.567	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		4	53	4	53	---	---	---	---
SART1	9092	broad.mit.edu	37	11	65733956	65733956	+	Missense_Mutation	SNP	C	C	G	rs144548769		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:65733956C>G	ENST00000312397.5	+	9	1209	c.1117C>G	c.(1117-1119)Cgg>Ggg	p.R373G		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	373					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R373G(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCCAAGCTGCGGCTGCAGGC	0.677																																						uc001ogl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)CGG>GGG		squamous cell carcinoma antigen recognized by T							21.0	21.0	21.0					11																	65733956		2201	4294	6495	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65733956C>G	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1117C>G	11.37:g.65733956C>G	ENSP00000310448:p.Arg373Gly					SART1_uc010rot.1_Missense_Mutation_p.C258W	p.R373G	NM_005146	NP_005137	O43290	SNUT1_HUMAN			9	1209	+			373					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.1117C>G	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604130	0.46423	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.24538	1.85	4.02	1.93	0.25924	.	0.080647	0.49305	D	0.000156	T	0.27900	0.0687	L	0.37750	1.13	0.45284	D	0.998284	D	0.57571	0.98	P	0.51918	0.684	T	0.05920	-1.0856	10	0.87932	D	0	-20.9668	10.8622	0.46833	0.3317:0.6682:0.0:0.0	.	373	O43290	SNUT1_HUMAN	G	373;215	ENSP00000310448:R373G	ENSP00000310448:R373G	R	+	1	2	SART1	65490532	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	1.713000	0.37951	0.805000	0.34159	0.305000	0.20034	CGG		PASS	0.677	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			5	22	5	22	---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72294509	72294509	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:72294509G>T	ENST00000334456.5	-	20	1946	c.1701C>A	c.(1699-1701)gcC>gcA	p.A567A	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Silent_p.A452A|PDE2A_ENST00000540345.1_Silent_p.A558A|PDE2A_ENST00000376450.3_Silent_p.A311A|PDE2A_ENST00000544570.1_Silent_p.A560A|PDE2A_ENST00000444035.2_Silent_p.A558A	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	567					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.A567A(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TCATCTCATTGGCCAGGTGGC	0.537																																						uc010rrc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1699-1701)GCC>GCA		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						155.0	142.0	146.0					11																	72294509		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72294509G>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1701C>A	11.37:g.72294509G>T						PDE2A_uc001oso.2_Silent_p.A546A|PDE2A_uc010rra.1_Silent_p.A560A|PDE2A_uc001osn.2_Silent_p.A311A|PDE2A_uc010rrb.1_Silent_p.A558A|PDE2A_uc010rrd.1_Silent_p.A452A	p.A567A	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		20	1944	-			567					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.1701C>A	CCDS8216.1																																																																																				PASS	0.537	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		39	90	39	90	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83183809	83183809	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:83183809C>T	ENST00000532653.1	-	18	2238	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	DLG2_ENST00000398309.2_Missense_Mutation_p.D664N|DLG2_ENST00000537455.1_Missense_Mutation_p.D414N|DLG2_ENST00000531015.1_Missense_Mutation_p.D631N|DLG2_ENST00000524982.1_Missense_Mutation_p.D660N|DLG2_ENST00000330014.6_Missense_Mutation_p.D585N|DLG2_ENST00000376106.3_Missense_Mutation_p.D128N|DLG2_ENST00000280241.8_Missense_Mutation_p.D703N|DLG2_ENST00000418306.2_Missense_Mutation_p.D543N|DLG2_ENST00000543673.1_Missense_Mutation_p.D769N|DLG2_ENST00000426717.2_Missense_Mutation_p.D128N|DLG2_ENST00000376104.2_Missense_Mutation_p.D769N|DLG2_ENST00000404783.3_Missense_Mutation_p.D142N			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	358					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.D543N(1)|p.D769N(1)|p.D703N(1)|p.D664N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGAATGAGGTCTTCTTGTCCT	0.428																																						uc001paj.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(1990-1992)GAC>AAC		chapsyn-110 isoform 2							111.0	108.0	109.0					11																	83183809		1894	4095	5989	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83183809C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1936G>A	11.37:g.83183809C>T	ENSP00000435849:p.Asp646Asn					DLG2_uc001pai.2_Missense_Mutation_p.D543N|DLG2_uc010rsy.1_Missense_Mutation_p.D613N|DLG2_uc010rsz.1_Missense_Mutation_p.D660N|DLG2_uc010rta.1_Missense_Mutation_p.D646N|DLG2_uc001pak.2_Missense_Mutation_p.D769N|DLG2_uc010rtb.1_Missense_Mutation_p.D631N|DLG2_uc010rsw.1_Missense_Mutation_p.D128N|DLG2_uc010rsx.1_Missense_Mutation_p.D141N	p.D664N	NM_001364	NP_001355	Q15700	DLG2_HUMAN			18	2293	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	664					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1990G>A		.	.	.	.	.	.	.	.	.	.	C	25.8	4.676623	0.88445	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000420775	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32753	2.52;2.79;2.53;2.24;2.53;2.48;3.2;2.32;2.32;2.79;2.52;2.35;2.33;1.44	5.56	5.56	0.83823	Src homology-3 domain (1);	0.074255	0.51477	D	0.000083	T	0.51261	0.1664	M	0.65975	2.015	0.80722	D	1	D;B;B;B;B;P;B;P	0.54964	0.969;0.276;0.103;0.276;0.282;0.897;0.255;0.609	P;B;B;B;B;P;B;P	0.57324	0.818;0.199;0.03;0.199;0.258;0.543;0.142;0.547	T	0.40365	-0.9567	9	.	.	.	.	19.8898	0.96926	0.0:1.0:0.0:0.0	.	631;646;660;585;142;769;664;543	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	N	664;128;769;543;769;703;142;585;414;128;660;646;769;631;146	ENSP00000381355:D664N;ENSP00000393049:D128N;ENSP00000365272:D769N;ENSP00000402275:D543N;ENSP00000441994:D769N;ENSP00000280241:D703N;ENSP00000385113:D142N;ENSP00000381353:D585N;ENSP00000443248:D414N;ENSP00000365274:D128N;ENSP00000432894:D660N;ENSP00000435849:D646N;ENSP00000433848:D631N;ENSP00000391017:D146N	.	D	-	1	0	DLG2	82861457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.421000	0.80204	2.781000	0.95711	0.650000	0.86243	GAC		PASS	0.428	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		30	70	30	70	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534277	92534277	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:92534277C>A	ENST00000298047.6	+	9	8115	c.8098C>A	c.(8098-8100)Ccc>Acc	p.P2700T	FAT3_ENST00000409404.2_Missense_Mutation_p.P2700T|FAT3_ENST00000525166.1_Missense_Mutation_p.P2550T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2700	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2700T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCACGTCTTGCCCCCTGAAAC	0.463										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8098-8100)CCC>ACC		FAT tumor suppressor homolog 3							69.0	66.0	67.0					11																	92534277		1960	4149	6109	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534277C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8098C>A	11.37:g.92534277C>A	ENSP00000298047:p.Pro2700Thr	TCGA Ovarian(4;0.039)					p.P2700T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8115	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2700			Cadherin 24.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8098C>A		.	.	.	.	.	.	.	.	.	.	C	18.69	3.677079	0.68042	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60548	0.18;0.18;0.18	6.08	6.08	0.98989	.	.	.	.	.	T	0.69187	0.3083	M	0.64404	1.975	0.80722	D	1	D	0.52996	0.957	P	0.52066	0.689	T	0.69383	-0.5160	9	0.62326	D	0.03	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	2700	Q8TDW7-3	.	T	2700;2700;2550	ENSP00000298047:P2700T;ENSP00000387040:P2700T;ENSP00000432586:P2550T	ENSP00000298047:P2700T	P	+	1	0	FAT3	92173925	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.631000	0.54280	2.894000	0.99253	0.591000	0.81541	CCC		PASS	0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		19	42	19	42	---	---	---	---
MED17	9440	broad.mit.edu	37	11	93529576	93529576	+	Splice_Site	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:93529576G>T	ENST00000251871.3	+	7	1300	c.1013G>T	c.(1012-1014)aGc>aTc	p.S338I	snoU13_ENST00000459243.1_RNA|MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	338					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S338I(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTATAAATAGGCTTGCAGTTA	0.328																																						uc001pem.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)AGC>ATC		mediator complex subunit 17							140.0	143.0	142.0					11																	93529576		2201	4298	6499	SO:0001630	splice_region_variant	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93529576G>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1013-1G>T	11.37:g.93529576G>T							p.S338I	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			7	1288	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	338					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.1013G>T	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888255	0.52014	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.56103	0.48	6.06	0.614	0.17603	.	0.225320	0.53938	D	0.000044	T	0.40347	0.1113	N	0.14661	0.345	0.80722	D	1	P	0.42203	0.773	P	0.48524	0.58	T	0.08106	-1.0738	9	.	.	.	.	11.8332	0.52307	0.2904:0.0:0.7096:0.0	.	338	Q9NVC6	MED17_HUMAN	I	338;308	ENSP00000251871:S338I	.	S	+	2	0	MED17	93169224	1.000000	0.71417	0.985000	0.45067	0.812000	0.45895	2.249000	0.43169	-0.133000	0.11537	-0.940000	0.02684	AGC		PASS	0.328	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268	Missense_Mutation	15	66	15	66	---	---	---	---
MED17	9440	broad.mit.edu	37	11	93542995	93542996	+	Missense_Mutation	DNP	CA	CA	TT			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:93542995_93542996CA>TT	ENST00000251871.3	+	11	1984_1985	c.1697_1698CA>TT	c.(1696-1698)gCA>gTT	p.A566V	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	566					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.A566V(2)|p.A566A(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATTGGTAATGCATCTGCCATCA	0.48																																						uc001pem.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(1696-1698)GCA>GTA|c.(1696-1698)GCA>GCT		mediator complex subunit 17																																				SO:0001583	missense	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93542995C>T|g.chr11:93542996A>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	Exception_encountered	11.37:g.93542995_93542996delinsTT	ENSP00000251871:p.Ala566Val						p.A566V|p.A566A	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			11	1972|1973	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	566					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation|Silent	SNP	ENST00000251871.3	37	c.1697C>T|c.1698A>T	CCDS8295.1																																																																																				PASS	0.480	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		50	161|163	50	161	---	---	---	---
MMP8	4317	broad.mit.edu	37	11	102586033	102586033	+	Splice_Site	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:102586033A>T	ENST00000236826.3	-	7	1135		c.e7+1			NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)						collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.?(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	TTAGGAAGTTACCTTTAAATA	0.408																																						uc001phe.2																			1	Unknown(1)		lung(1)	ovary(3)|breast(1)	4						c.e7+1		matrix metalloproteinase 8 preproprotein							67.0	63.0	64.0					11																	102586033		2203	4299	6502	SO:0001630	splice_region_variant	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102586033A>T	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1036+1T>A	11.37:g.102586033A>T						MMP8_uc010rut.1_Splice_Site_p.D281_splice|MMP8_uc010ruu.1_Splice_Site_p.G323_splice	p.G346_splice	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	7	1135	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						Q45F99	Splice_Site	SNP	ENST00000236826.3	37	c.1036_splice	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405738	0.42715	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000438475;ENST00000534942	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8346	0.78789	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP8	102091243	1.000000	0.71417	0.985000	0.45067	0.178000	0.23041	7.868000	0.87116	2.213000	0.71641	0.477000	0.44152	.		PASS	0.408	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	Intron	18	20	18	20	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121420786	121420786	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:121420786G>T	ENST00000260197.7	+	15	2298	c.2169G>T	c.(2167-2169)agG>agT	p.R723S		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	723					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.R723S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTACTTACAGGAGAACGAGAG	0.507																																						uc001pxx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(2167-2169)AGG>AGT		sortilin-related receptor containing LDLR class							101.0	92.0	96.0					11																	121420786		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121420786G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2169G>T	11.37:g.121420786G>T	ENSP00000260197:p.Arg723Ser						p.R723S	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	15	2249	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	723			Extracellular (Potential).		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2169G>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254411	0.39896	.	.	ENSG00000137642	ENST00000260197	D	0.91068	-2.78	5.38	3.51	0.40186	VPS10 (1);	0.202866	0.47852	D	0.000207	T	0.79747	0.4499	N	0.12182	0.205	0.80722	D	1	B	0.18013	0.025	B	0.18561	0.022	T	0.72786	-0.4188	10	0.32370	T	0.25	.	8.7389	0.34545	0.229:0.0:0.771:0.0	.	723	Q92673	SORL_HUMAN	S	723	ENSP00000260197:R723S	ENSP00000260197:R723S	R	+	3	2	SORL1	120925996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.548000	0.45794	1.271000	0.44313	0.655000	0.94253	AGG		PASS	0.507	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		19	54	19	54	---	---	---	---
TMEM225	338661	broad.mit.edu	37	11	123756055	123756055	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:123756055C>T	ENST00000375026.2	-	1	294	c.78G>A	c.(76-78)atG>atA	p.M26I		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	26					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.M26I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AGGTGATTCCCATCACCATTA	0.428																																						uc001pzi.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						c.(76-78)ATG>ATA		transmembrane protein 225							125.0	113.0	117.0					11																	123756055		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123756055C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.78G>A	11.37:g.123756055C>T	ENSP00000364166:p.Met26Ile						p.M26I	NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN			1	286	-			26			Helical; (Potential).			Missense_Mutation	SNP	ENST00000375026.2	37	c.78G>A	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	C	2.770	-0.255947	0.05829	.	.	ENSG00000204300	ENST00000375026	T	0.63580	-0.05	4.87	-0.406	0.12389	.	1.068010	0.07332	N	0.879263	T	0.28400	0.0702	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23332	-1.0191	10	0.02654	T	1	-2.2274	0.9341	0.01341	0.1552:0.1771:0.1612:0.5065	.	26	Q6GV28	TM225_HUMAN	I	26	ENSP00000364166:M26I	ENSP00000364166:M26I	M	-	3	0	TMEM225	123261265	0.005000	0.15991	0.009000	0.14445	0.001000	0.01503	-0.450000	0.06803	-0.147000	0.11254	-1.004000	0.02495	ATG		PASS	0.428	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		34	56	34	56	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777298	123777298	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:123777298C>A	ENST00000321355.2	+	1	190	c.160C>A	c.(160-162)Caa>Aaa	p.Q54K		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q54K(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GCTGAATCGTCAACTTCATAC	0.408																																						uc010saa.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(160-162)CAA>AAA		olfactory receptor, family 8, subfamily D,							239.0	226.0	231.0					11																	123777298		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777298C>A	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.160C>A	11.37:g.123777298C>A	ENSP00000325381:p.Gln54Lys						p.Q54K	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	160	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	54			Cytoplasmic (Potential).		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.160C>A	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	7.573	0.667223	0.14710	.	.	ENSG00000181518	ENST00000321355	T	0.00473	7.18	5.67	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.315484	0.23023	N	0.052821	T	0.00356	0.0011	N	0.21373	0.66	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.53056	-0.8492	10	0.51188	T	0.08	.	12.4359	0.55598	0.2802:0.7198:0.0:0.0	.	54	Q8NGM9	OR8D4_HUMAN	K	54	ENSP00000325381:Q54K	ENSP00000325381:Q54K	Q	+	1	0	OR8D4	123282508	0.000000	0.05858	0.677000	0.29947	0.132000	0.20833	0.073000	0.14640	2.652000	0.90054	0.655000	0.94253	CAA		PASS	0.408	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		37	107	37	107	---	---	---	---
PUS3	83480	broad.mit.edu	37	11	125765462	125765462	+	Missense_Mutation	SNP	G	G	A	rs372488492		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:125765462G>A	ENST00000530811.1	-	2	646	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	PUS3_ENST00000227474.3_Missense_Mutation_p.R201C|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	201					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R201C(1)		NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AAATCAGCACGAGGGAAAAAA	0.473																																						uc001qcy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(601-603)CGT>TGT		pseudouridylate synthase 3		G	,CYS/ARG,	0,4402		0,0,2201	66.0	70.0	69.0		,601,	1.4	1.0	11		69	1,8597	1.2+/-3.3	0,1,4298	no	intron,missense,intron	PUS3,HYLS1	NM_001134793.1,NM_031307.3,NM_145014.2	,180,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,benign,	,201/482,	125765462	1,12999	2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125765462G>A	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.601C>T	11.37:g.125765462G>A	ENSP00000432386:p.Arg201Cys					HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	p.R201C	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	3	699	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	201					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.601C>T	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780025	0.31502	0.0	1.16E-4	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.55588	0.51;0.51	5.97	1.44	0.22558	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);	0.312185	0.39759	N	0.001279	T	0.40171	0.1106	L	0.43923	1.385	0.54753	D	0.999981	B	0.16166	0.016	B	0.11329	0.006	T	0.20140	-1.0284	10	0.41790	T	0.15	-0.36	8.3365	0.32217	0.4925:0.0:0.5075:0.0	.	201	Q9BZE2	PUS3_HUMAN	C	201	ENSP00000227474:R201C;ENSP00000432386:R201C	ENSP00000227474:R201C	R	-	1	0	PUS3	125270672	0.993000	0.37304	0.998000	0.56505	0.988000	0.76386	0.691000	0.25467	0.407000	0.25591	0.591000	0.81541	CGT		PASS	0.473	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		8	56	8	56	---	---	---	---
NTM	50863	broad.mit.edu	37	11	131781445	131781445	+	Missense_Mutation	SNP	C	C	T	rs143802759		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr11:131781445C>T	ENST00000374786.1	+	1	549	c.70C>T	c.(70-72)Ctt>Ttt	p.L24F	NTM_ENST00000374791.3_Intron|NTM_ENST00000425719.2_Missense_Mutation_p.L24F|NTM_ENST00000427481.2_Intron|NTM_ENST00000374784.1_Missense_Mutation_p.L24F|NTM_ENST00000539799.1_Intron	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	24					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L24F(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GCTGCTGTTCCTTGTACCCAC	0.627											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qgp.2																			2	Substitution - Missense(2)	p.L24F(1)	lung(1)|skin(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(70-72)CTT>TTT		neurotrimin isoform 1							98.0	93.0	95.0					11																	131781445		2200	4275	6475	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:131781445C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.70C>T	11.37:g.131781445C>T	ENSP00000363918:p.Leu24Phe		OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590	NTM_uc001qgm.2_Intron|NTM_uc010sch.1_Intron|NTM_uc010sci.1_Intron|NTM_uc010scj.1_Intron|NTM_uc001qgo.2_Missense_Mutation_p.L24F|NTM_uc001qgq.2_Missense_Mutation_p.L24F	p.L24F	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			1	734	+			24					A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.70C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768774	0.90020	.	.	ENSG00000182667	ENST00000374786;ENST00000425719;ENST00000374784	T;T;T	0.61392	0.16;0.11;0.11	5.28	5.28	0.74379	.	.	.	.	.	T	0.69682	0.3138	L	0.54323	1.7	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.993	P;P;P	0.62740	0.906;0.862;0.865	T	0.64558	-0.6379	9	0.23891	T	0.37	.	18.896	0.92423	0.0:1.0:0.0:0.0	.	24;24;24	Q9P121-4;Q9P121;Q9P121-3	.;NTRI_HUMAN;.	F	24	ENSP00000363918:L24F;ENSP00000396722:L24F;ENSP00000363916:L24F	ENSP00000363916:L24F	L	+	1	0	NTM	131286655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.311000	0.78958	2.479000	0.83701	0.561000	0.74099	CTT		PASS	0.627	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		22	49	22	49	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2694567	2694567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:2694567G>T	ENST00000347598.4	+	17	2365	c.2365G>T	c.(2365-2367)Gag>Tag	p.E789*	CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.E814*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.E789*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.E789*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	789					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E789*(3)|p.E819*(1)|p.E324*(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGAAACAAGAGTTGGTGGA	0.542																																						uc009zdu.1																			5	Substitution - Nonsense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(2365-2367)GAG>TAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						22.0	27.0	25.0					12																	2694567		1867	4095	5962	SO:0001587	stop_gained	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2694567G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2365G>T	12.37:g.2694567G>T	ENSP00000266376:p.Glu789*					CACNA1C_uc009zdv.1_Nonsense_Mutation_p.E786*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkc.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.E789*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qka.1_Nonsense_Mutation_p.E324*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.E525*|CACNA1C_uc001qkj.1_Nonsense_Mutation_p.E525*|CACNA1C_uc001qkk.1_Nonsense_Mutation_p.E525*|CACNA1C_uc001qkm.1_Nonsense_Mutation_p.E525*|CACNA1C_uc001qkw.2_Nonsense_Mutation_p.E78*	p.E789*	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	17	2678	+			789			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Nonsense_Mutation	SNP	ENST00000347598.4	37	c.2365G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	41	8.551036	0.98859	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	5.74	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	14.4934	0.67667	0.07:0.0:0.9299:0.0	.	.	.	.	X	814;789;789;789;789;789;789;789;789;789;789;789;789;789;789;789;789;789;789;789;789;789;789;630	.	ENSP00000323129:E630X	E	+	1	0	CACNA1C	2564828	1.000000	0.71417	0.988000	0.46212	0.981000	0.71138	4.528000	0.60580	1.426000	0.47256	0.655000	0.94253	GAG		PASS	0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		7	28	7	28	---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4920672	4920672	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:4920672C>A	ENST00000280684.3	+	1	2331	c.1465C>A	c.(1465-1467)Ctg>Atg	p.L489M	KCNA6_ENST00000433855.1_Missense_Mutation_p.L489M|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	489					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.L489M(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TGCGCCGGACCTGAGGGCAAC	0.597										HNSCC(72;0.22)																												uc001qng.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1465-1467)CTG>ATG		potassium voltage-gated channel, shaker-related							94.0	93.0	93.0					12																	4920672		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920672C>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1465C>A	12.37:g.4920672C>A	ENSP00000280684:p.Leu489Met	HNSCC(72;0.22)					p.L489M	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	2331	+			489						Missense_Mutation	SNP	ENST00000280684.3	37	c.1465C>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141462	0.21205	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97352	-4.35;-4.35	5.09	2.24	0.28232	.	0.140600	0.45606	D	0.000341	D	0.93674	0.7979	L	0.34521	1.04	0.26731	N	0.970593	D	0.52996	0.957	P	0.47044	0.535	D	0.87937	0.2714	10	0.32370	T	0.25	.	7.4594	0.27285	0.1351:0.7192:0.0:0.1457	.	489	P17658	KCNA6_HUMAN	M	489	ENSP00000408321:L489M;ENSP00000280684:L489M	ENSP00000280684:L489M	L	+	1	2	KCNA6	4790933	0.991000	0.36638	0.999000	0.59377	0.025000	0.11179	1.199000	0.32235	0.303000	0.22785	-0.230000	0.12252	CTG		PASS	0.597	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		20	69	20	69	---	---	---	---
CLEC1B	51266	broad.mit.edu	37	12	10149546	10149546	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:10149546A>T	ENST00000298527.6	-	4	516	c.337T>A	c.(337-339)Tgc>Agc	p.C113S	CLEC1B_ENST00000428126.2_Missense_Mutation_p.C80S|CLEC1B_ENST00000348658.4_Missense_Mutation_p.C80S	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.C17S(1)|p.C113S(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						AACCCATAGCAGCTATCTCCA	0.433																																						uc001qwu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(337-339)TGC>AGC		C-type lectin domain family 1, member B isoform							160.0	145.0	150.0					12																	10149546		1892	4131	6023	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10149546A>T	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.337T>A	12.37:g.10149546A>T	ENSP00000298527:p.Cys113Ser					CLEC1B_uc009zhd.2_Missense_Mutation_p.C80S	p.C113S	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN			4	537	-			113			C-type lectin.|Extracellular (Potential).		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.337T>A	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136863	0.37728	.	.	ENSG00000165682	ENST00000398937;ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	4.05	4.05	0.47172	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.64402	D	0.000006	T	0.71221	0.3314	H	0.95504	3.68	0.34629	D	0.71944	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82940	-0.0208	10	0.87932	D	0	.	9.2941	0.37804	1.0:0.0:0.0:0.0	.	80;113	Q9P126-2;Q9P126	.;CLC1B_HUMAN	S	20;80;113;80;17	ENSP00000381910:C20S;ENSP00000406338:C80S;ENSP00000298527:C113S;ENSP00000327169:C80S	ENSP00000298527:C113S	C	-	1	0	CLEC1B	10040813	0.993000	0.37304	0.837000	0.33122	0.107000	0.19398	4.135000	0.57997	1.681000	0.50988	0.402000	0.26972	TGC		PASS	0.433	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		39	76	39	76	---	---	---	---
CAPZA3	93661	broad.mit.edu	37	12	18891505	18891505	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:18891505G>A	ENST00000317658.3	+	1	461	c.303G>A	c.(301-303)ctG>ctA	p.L101L	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	101					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.L101L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAAATCAGCTGAAAGACATCC	0.398																																						uc001rdy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(301-303)CTG>CTA		capping protein alpha 3							76.0	72.0	73.0					12																	18891505		2203	4299	6502	SO:0001819	synonymous_variant	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891505G>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.303G>A	12.37:g.18891505G>A						PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank	p.L101L	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN			1	461	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	101					Q969J0	Silent	SNP	ENST00000317658.3	37	c.303G>A	CCDS8681.1																																																																																				PASS	0.398	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		8	62	8	62	---	---	---	---
ST8SIA1	6489	broad.mit.edu	37	12	22354742	22354742	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:22354742C>A	ENST00000396037.4	-	5	1296	c.815G>T	c.(814-816)cGc>cTc	p.R272L	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.R129L	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	272					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.R272L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TGTGGACAGGCGCTTGGCATG	0.507																																						uc001rfo.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(814-816)CGC>CTC		alpha-2,8-sialyltransferase 1							68.0	71.0	70.0					12																	22354742		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354742C>A	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.815G>T	12.37:g.22354742C>A	ENSP00000379353:p.Arg272Leu					ST8SIA1_uc009zix.2_Missense_Mutation_p.R129L	p.R272L	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			5	1297	-			272			Lumenal (Potential).		A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.815G>T	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	36	5.696402	0.96802	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	T;T	0.33865	1.39;1.39	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.82923	2.615	0.80722	D	1	D;P	0.89917	1.0;0.895	D;P	0.87578	0.998;0.789	T	0.67337	-0.5696	10	0.56958	D	0.05	-23.2513	20.2602	0.98440	0.0:1.0:0.0:0.0	.	129;272	G3V1U7;Q92185	.;SIA8A_HUMAN	L	272;129	ENSP00000379353:R272L;ENSP00000446363:R129L	ENSP00000379353:R272L	R	-	2	0	ST8SIA1	22246009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.752000	0.85141	2.861000	0.98227	0.655000	0.94253	CGC		PASS	0.507	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		30	60	30	60	---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23728734	23728734	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:23728734G>A	ENST00000451604.2	-	10	1304	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P	SOX5_ENST00000546136.1_Silent_p.P388P|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000537393.1_Silent_p.P366P|SOX5_ENST00000545921.1_Silent_p.P391P|SOX5_ENST00000396007.2_Silent_p.P15P|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000309359.1_Silent_p.P388P			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	401					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P401P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAGAGGTCTTGGGTTTAGCTG	0.488																																						uc001rfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(1)	6						c.(1201-1203)CCC>CCT		SRY (sex determining region Y)-box 5 isoform a							169.0	167.0	168.0					12																	23728734		2203	4300	6503	SO:0001819	synonymous_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23728734G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1203C>T	12.37:g.23728734G>A						SOX5_uc001rfx.2_Silent_p.P388P|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Silent_p.P15P|SOX5_uc010siv.1_Silent_p.P388P|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.P353P	p.P401P	NM_006940	NP_008871	P35711	SOX5_HUMAN			10	1305	-			401					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	c.1203C>T	CCDS8699.1																																																																																				PASS	0.488	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		34	85	34	85	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27950784	27950784	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:27950784C>T	ENST00000381271.2	+	3	1514	c.1203C>T	c.(1201-1203)caC>caT	p.H401H	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	401					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H401H(1)									GGTGTCTCCACGAGCTGGGGC	0.587																																						uc001rij.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1201-1203)CAC>CAT		kelch domain containing 5							98.0	93.0	95.0					12																	27950784		2203	4300	6503	SO:0001819	synonymous_variant	57542							g.chr12:27950784C>T	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1203C>T	12.37:g.27950784C>T						KLHDC5_uc009zjj.2_RNA	p.H401H	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN			3	1280	+	Lung SC(9;0.0873)		401			Kelch 5.		Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	c.1203C>T	CCDS31763.1																																																																																				PASS	0.587	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		48	87	48	87	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30826935	30826935	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:30826935C>A	ENST00000256079.4	-	8	1236	c.898G>T	c.(898-900)Ggc>Tgc	p.G300C	IPO8_ENST00000544829.1_Missense_Mutation_p.G95C	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	300					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.G300C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGCTGAATGCCCACTGCATAG	0.313																																						uc001rjd.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(898-900)GGC>TGC		importin 8							47.0	50.0	49.0					12																	30826935		2201	4296	6497	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30826935C>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.898G>T	12.37:g.30826935C>A	ENSP00000256079:p.Gly300Cys					IPO8_uc010sjt.1_Missense_Mutation_p.G95C	p.G300C	NM_006390	NP_006381	O15397	IPO8_HUMAN			8	1068	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		300					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.898G>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869839	0.72065	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T;T	0.67865	-0.29;-0.29;-0.29	4.6	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	D	0.82614	0.5075	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.986	D	0.84984	0.0890	10	0.62326	D	0.03	-21.7216	17.9712	0.89113	0.0:1.0:0.0:0.0	.	95;300	B7Z7M3;O15397	.;IPO8_HUMAN	C	300;95;114	ENSP00000256079:G300C;ENSP00000444520:G95C;ENSP00000439556:G114C	ENSP00000256079:G300C	G	-	1	0	IPO8	30718202	0.995000	0.38212	1.000000	0.80357	0.971000	0.66376	5.661000	0.68025	2.541000	0.85698	0.655000	0.94253	GGC		PASS	0.313	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		16	59	16	59	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40020150	40020150	+	Silent	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:40020150C>G	ENST00000324616.5	+	1	166	c.12C>G	c.(10-12)gtC>gtG	p.V4V	C12orf40_ENST00000405531.3_Silent_p.V4V|C12orf40_ENST00000398716.1_5'UTR	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	4								p.V4V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGAATTGGGTCGGGGGGTCCC	0.542																																						uc001rmc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(10-12)GTC>GTG		hypothetical protein LOC283461							77.0	88.0	85.0					12																	40020150		1903	4118	6021	SO:0001819	synonymous_variant	283461							g.chr12:40020150C>G	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.12C>G	12.37:g.40020150C>G						C12orf40_uc009zjv.1_RNA	p.V4V	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			1	179	+			4					B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	ENST00000324616.5	37	c.12C>G	CCDS41770.1																																																																																				PASS	0.542	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		14	44	14	44	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49420645	49420645	+	Missense_Mutation	SNP	C	C	A	rs398123723		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:49420645C>A	ENST00000301067.7	-	48	15103	c.15104G>T	c.(15103-15105)tGt>tTt	p.C5035F		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5035					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.C5035F(1)|p.C4765F(1)									CTCCTCATGACAGAAACAGCA	0.617																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15103-15105)TGT>TTT		myeloid/lymphoid or mixed-lineage leukemia 2							63.0	68.0	66.0					12																	49420645		2144	4238	6382	SO:0001583	missense	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.chr12:49420645C>A	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.15104G>T	12.37:g.49420645C>A	ENSP00000301067:p.Cys5035Phe	HNSCC(34;0.089)					p.C5035F	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15104	-			5035					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15104G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.155815	0.38021	.	.	ENSG00000167548	ENST00000301067	D	0.94650	-3.48	4.86	4.86	0.63082	.	0.000000	0.41605	D	0.000850	D	0.97312	0.9121	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98065	1.0395	10	0.87932	D	0	.	17.1536	0.86784	0.0:1.0:0.0:0.0	.	5035	O14686	MLL2_HUMAN	F	5035	ENSP00000301067:C5035F	ENSP00000301067:C5035F	C	-	2	0	MLL2	47706912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.425000	0.82216	0.655000	0.94253	TGT		PASS	0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	101	8	101	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49435057	49435057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:49435057G>A	ENST00000301067.7	-	31	6495	c.6496C>T	c.(6496-6498)Cag>Tag	p.Q2166*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2166	Pro-rich.				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.Q1896*(1)|p.Q2166*(1)									GCGGGCACCTGGGGTGGGAGC	0.701																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6496-6498)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							6.0	9.0	8.0					12																	49435057		1850	3982	5832	SO:0001587	stop_gained	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.chr12:49435057G>A	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.6496C>T	12.37:g.49435057G>A	ENSP00000301067:p.Gln2166*	HNSCC(34;0.089)					p.Q2166*	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6496	-			2166			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.6496C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	45	11.689642	0.99591	.	.	ENSG00000167548	ENST00000301067	.	.	.	3.65	3.65	0.41850	.	0.000000	0.31381	N	0.007760	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3017	0.73958	0.0:0.0:1.0:0.0	.	.	.	.	X	2166	.	ENSP00000301067:Q2166X	Q	-	1	0	MLL2	47721324	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.286000	0.72665	2.329000	0.79093	0.561000	0.74099	CAG		PASS	0.701	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			10	17	10	17	---	---	---	---
CELA1	1990	broad.mit.edu	37	12	51733741	51733741	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:51733741A>G	ENST00000293636.1	-	6	552	c.512T>C	c.(511-513)gTg>gCg	p.V171A		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	171	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V171A(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						GGCGTAGTCCACAGAGGGCAG	0.597																																						uc001ryi.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(511-513)GTG>GCG		chymotrypsin-like elastase family, member 1							71.0	52.0	58.0					12																	51733741		2203	4300	6503	SO:0001583	missense	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51733741A>G		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.512T>C	12.37:g.51733741A>G	ENSP00000293636:p.Val171Ala						p.V171A	NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN			6	553	-			171			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	ENST00000293636.1	37	c.512T>C	CCDS8812.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.491630	0.84962	.	.	ENSG00000139610	ENST00000293636	D	0.90261	-2.64	5.03	5.03	0.67393	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.93324	0.7872	L	0.52011	1.625	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.93847	0.7142	10	0.66056	D	0.02	-6.6177	14.0516	0.64739	1.0:0.0:0.0:0.0	.	171	Q9UNI1	CELA1_HUMAN	A	171	ENSP00000293636:V171A	ENSP00000293636:V171A	V	-	2	0	CELA1	50020008	1.000000	0.71417	0.763000	0.31416	0.964000	0.63967	9.093000	0.94163	2.035000	0.60131	0.528000	0.53228	GTG		PASS	0.597	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		15	23	15	23	---	---	---	---
KRT86	3892	broad.mit.edu	37	12	52699180	52699180	+	Missense_Mutation	SNP	C	C	G	rs201943606	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:52699180C>G	ENST00000423955.2	+	7	1070	c.892C>G	c.(892-894)Cgc>Ggc	p.R298G	KRT86_ENST00000544024.1_Missense_Mutation_p.R298G|KRT86_ENST00000293525.5_Missense_Mutation_p.R298G|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86	298	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R298G(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTCCTGGTACCGCAGCAAGGT	0.542																																						uc010snq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(892-894)CGC>GGC		keratin 86							96.0	85.0	89.0					12																	52699180		2203	4300	6503	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52699180C>G	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.892C>G	12.37:g.52699180C>G	ENSP00000444533:p.Arg298Gly					KRT86_uc009zmg.2_Missense_Mutation_p.R298G|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.R298G	p.R298G	NM_002284	NP_002275	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1025	+			298			Rod.|Coil 2.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.892C>G	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371358	0.61624	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.77098	-1.07;-1.07;-1.07	4.51	4.51	0.55191	Filament (1);	0.000000	0.42053	U	0.000776	D	0.83358	0.5237	M	0.87381	2.88	0.33819	D	0.628783	P	0.42357	0.777	P	0.44860	0.462	D	0.91231	0.5014	10	0.87932	D	0	.	15.4621	0.75366	0.0:1.0:0.0:0.0	.	298	O43790	KRT86_HUMAN	G	298	ENSP00000443169:R298G;ENSP00000444533:R298G;ENSP00000293525:R298G	ENSP00000293525:R298G	R	+	1	0	AC021066.1;KRT86	50985447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.672000	0.37523	2.086000	0.62901	0.499000	0.49734	CGC		PASS	0.542	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		28	48	28	48	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53008428	53008428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:53008428C>A	ENST00000305748.3	-	4	788	c.754G>T	c.(754-756)Gag>Tag	p.E252*	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	252	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.E252*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTGCAGCTCCACTTTGCTC	0.567																																						uc001sas.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(754-756)GAG>TAG		keratin 73							130.0	107.0	115.0					12																	53008428		2203	4300	6503	SO:0001587	stop_gained	319101					keratin filament	structural molecule activity	g.chr12:53008428C>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.754G>T	12.37:g.53008428C>A	ENSP00000307014:p.Glu252*						p.E252*	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	789	-			252			Coil 1B.|Rod.		Q32MB2	Nonsense_Mutation	SNP	ENST00000305748.3	37	c.754G>T	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	37	6.142549	0.97320	.	.	ENSG00000186049	ENST00000305748	.	.	.	4.99	4.99	0.66335	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.1368	0.89622	0.0:1.0:0.0:0.0	.	.	.	.	X	252	.	ENSP00000307014:E252X	E	-	1	0	KRT73	51294695	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.866000	0.69590	2.710000	0.92621	0.555000	0.69702	GAG		PASS	0.567	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		22	42	22	42	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57969442	57969442	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:57969442C>T	ENST00000455537.2	+	17	2199	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L	KIF5A_ENST00000286452.5_Missense_Mutation_p.S553L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	642					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.S642L(2)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGATCCGCTCGCTTACGGAA	0.557																																						uc001sor.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|skin(1)	3						c.(1924-1926)TCG>TTG		kinesin family member 5A							136.0	128.0	131.0					12																	57969442		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57969442C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1925C>T	12.37:g.57969442C>T	ENSP00000408979:p.Ser642Leu					KIF5A_uc010srr.1_Missense_Mutation_p.S553L	p.S642L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			17	2133	+			642					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1925C>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247897	0.80024	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.81499	-1.5;-1.5	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	M	0.83384	2.64	0.80722	D	1	D;D	0.76494	0.998;0.999	D;P	0.64042	0.921;0.877	D	0.90605	0.4547	10	0.59425	D	0.04	.	16.2291	0.82321	0.0:1.0:0.0:0.0	.	553;642	B7Z2M7;Q12840	.;KIF5A_HUMAN	L	642;553	ENSP00000408979:S642L;ENSP00000286452:S553L	ENSP00000286452:S553L	S	+	2	0	KIF5A	56255709	1.000000	0.71417	0.944000	0.38274	0.919000	0.55068	5.779000	0.68948	2.440000	0.82611	0.655000	0.94253	TCG		PASS	0.557	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		71	139	71	139	---	---	---	---
ARHGEF25	115557	broad.mit.edu	37	12	58007895	58007895	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:58007895C>T	ENST00000286494.4	+	6	1109	c.649C>T	c.(649-651)Cac>Tac	p.H217Y	AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.H256Y	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	217	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H256Y(1)|p.H217Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CTATGAGTGGCACCGAGAGTG	0.537																																						uc001spb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(649-651)CAC>TAC		RhoA/RAC/CDC42 exchange factor isoform 1							88.0	87.0	87.0					12																	58007895		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58007895C>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.649C>T	12.37:g.58007895C>T	ENSP00000286494:p.His217Tyr					GEFT_uc009zpy.2_Missense_Mutation_p.H256Y|GEFT_uc001soz.1_Missense_Mutation_p.H91Y|GEFT_uc001spa.2_Missense_Mutation_p.H111Y|uc001spc.2_Intron|GEFT_uc001spd.2_5'UTR	p.H217Y	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			6	1109	+	Melanoma(17;0.122)		217			DH.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.649C>T	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	c	34	5.296748	0.95574	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.63255	-0.03;-0.03	4.83	4.83	0.62350	Dbl homology (DH) domain (5);	0.000000	0.39687	N	0.001295	D	0.87838	0.6278	H	0.98818	4.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.92958	0.6386	10	0.87932	D	0	.	17.081	0.86598	0.0:1.0:0.0:0.0	.	256;217;91	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	Y	256;91;217	ENSP00000335560:H256Y;ENSP00000286494:H217Y	ENSP00000286494:H217Y	H	+	1	0	ARHGEF25	56294162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.353000	0.79414	2.410000	0.81850	0.563000	0.77884	CAC		PASS	0.537	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		26	70	26	70	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71029668	71029668	+	IGR	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:71029668G>T	ENST00000283228.2	-	0	3529				PTPRB_ENST00000334414.6_Silent_p.P78P|PTPRB_ENST00000550358.1_Silent_p.P78P|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.P77P	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P78P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTGAGCGGGAGGGGCCGCGGG	0.557																																						uc001swc.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(1)	3						c.(232-234)CCC>CCA		protein tyrosine phosphatase, receptor type, B							67.0	67.0	67.0					12																	71029668		1994	4160	6154	SO:0001628	intergenic_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029668G>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029668G>T						PTPRB_uc001swa.3_Silent_p.P78P|PTPRB_uc001swd.3_Silent_p.P77P|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Silent_p.P78P	p.P78P	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	278	-	Renal(347;0.236)		Error:Variant_position_missing_in_P23467_after_alignment					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.234C>A	CCDS8998.1																																																																																				PASS	0.557	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		9	17	9	17	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78542700	78542700	+	Splice_Site	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:78542700G>T	ENST00000397909.2	+	22	4958		c.e22+1		NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000266692.7_Splice_Site			Q8IVL0	NAV3_HUMAN	neuron navigator 3							membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.?(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						TTCAGCAAATGTAAGTCACTT	0.313										HNSCC(70;0.22)																												uc001syp.2																			1	Unknown(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.e22+1		neuron navigator 3							66.0	61.0	63.0					12																	78542700		1810	4081	5891	SO:0001630	splice_region_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78542700G>T	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.4785+1G>T	12.37:g.78542700G>T		HNSCC(70;0.22)				NAV3_uc001syo.2_Splice_Site_p.N1595_splice|NAV3_uc010sub.1_Splice_Site_p.N1081_splice|NAV3_uc009zsf.2_Splice_Site_p.N426_splice	p.N1595_splice	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			22	4958	+								Q8NFW7|Q9Y2E7	Splice_Site	SNP	ENST00000397909.2	37	c.4785_splice		.	.	.	.	.	.	.	.	.	.	G	22.6	4.308811	0.81247	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000552895;ENST00000550788	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.84	0.92180	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV3	77066831	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.070000	0.89493	2.559000	0.86315	0.650000	0.86243	.		PASS	0.313	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	Intron	5	20	5	20	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81839366	81839366	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:81839366A>T	ENST00000549396.1	-	6	699	c.539T>A	c.(538-540)tTg>tAg	p.L180*	PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.L180*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.L180*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.L106*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.L180*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.L27*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.L162*|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.L162*|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.L106*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	180	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.L180*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTGCTCAAACAAAGATTTCAG	0.428																																						uc001szo.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(538-540)TTG>TAG		PTPRF interacting protein alpha 2							142.0	135.0	137.0					12																	81839366		1921	4145	6066	SO:0001587	stop_gained	8499							g.chr12:81839366A>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.539T>A	12.37:g.81839366A>T	ENSP00000450337:p.Leu180*					PPFIA2_uc010sue.1_Nonsense_Mutation_p.L80*|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.L180*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			6	700	-			106					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.539T>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	A	37	6.365521	0.97507	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.	.	.	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8554	15.917	0.79527	1.0:0.0:0.0:0.0	.	.	.	.	X	180;162;106;191;162;180;106;180	.	ENSP00000327416:L162X	L	-	2	0	PPFIA2	80363497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.168000	0.68352	0.528000	0.53228	TTG		PASS	0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			42	59	42	59	---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98921700	98921700	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:98921700G>A	ENST00000556029.1	+	2	672	c.316G>A	c.(316-318)Gat>Aat	p.D106N	TMPO_ENST00000266732.4_Missense_Mutation_p.D106N|TMPO_ENST00000343315.5_Missense_Mutation_p.D106N|TMPO_ENST00000393053.2_Missense_Mutation_p.D106N|TMPO_ENST00000261210.5_Missense_Mutation_p.D106N	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	106	Linker.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.D106N(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGACAAGAAGATAAAGATGA	0.348																																						uc001tfj.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(316-318)GAT>AAT		thymopoietin isoform beta							162.0	162.0	162.0					12																	98921700		2203	4300	6503	SO:0001583	missense	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98921700G>A		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.316G>A	12.37:g.98921700G>A	ENSP00000450627:p.Asp106Asn					TMPO_uc001tfi.1_Missense_Mutation_p.D106N|TMPO_uc001tfk.2_Missense_Mutation_p.D106N|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Missense_Mutation_p.D106N	p.D106N	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN			2	553	+			106			Linker.|Nucleoplasmic (Potential).		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.316G>A	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478830	0.63849	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000266732;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T;T	0.74315	0.29;0.29;1.62;-0.13;-0.74;-0.83	4.74	4.74	0.60224	LEM-like domain (4);	0.054776	0.64402	D	0.000001	T	0.78278	0.4258	L	0.59436	1.845	0.41904	D	0.990433	P;P;P;D	0.57899	0.704;0.704;0.799;0.981	B;B;B;P	0.50082	0.212;0.212;0.272;0.63	T	0.82315	-0.0518	10	0.72032	D	0.01	.	17.3098	0.87206	0.0:0.0:1.0:0.0	.	139;106;106;106	Q59G12;P42167;A2T926;P42166	.;LAP2B_HUMAN;.;LAP2A_HUMAN	N	106;106;106;106;106;13	ENSP00000450627:D106N;ENSP00000340251:D106N;ENSP00000266732:D106N;ENSP00000376773:D106N;ENSP00000261210:D106N;ENSP00000451552:D13N	ENSP00000261210:D106N	D	+	1	0	TMPO	97445831	1.000000	0.71417	0.999000	0.59377	0.723000	0.41478	8.477000	0.90424	2.179000	0.69175	0.591000	0.81541	GAT		PASS	0.348	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		41	88	41	88	---	---	---	---
NR1H4	9971	broad.mit.edu	37	12	100928738	100928738	+	Silent	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:100928738C>G	ENST00000551379.1	+	4	727	c.699C>G	c.(697-699)acC>acG	p.T233T	NR1H4_ENST00000188403.7_Silent_p.T229T|NR1H4_ENST00000392986.3_Silent_p.T223T|NR1H4_ENST00000548884.1_Silent_p.T219T|NR1H4_ENST00000549996.1_Silent_p.T172T			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	233					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T219T(3)|p.T233T(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	CAGATCAGACCGTGAATGAAG	0.428																																						uc001tht.1																			5	Substitution - coding silent(5)		lung(4)|upper_aerodigestive_tract(1)	ovary(1)|lung(1)|skin(1)	3						c.(697-699)ACC>ACG		nuclear receptor subfamily 1, group H, member 4							135.0	111.0	119.0					12																	100928738		2203	4300	6503	SO:0001819	synonymous_variant	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100928738C>G	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.699C>G	12.37:g.100928738C>G						NR1H4_uc001thp.1_Silent_p.T219T|NR1H4_uc001thq.1_Silent_p.T223T|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.T223T|NR1H4_uc010svk.1_Silent_p.T172T|NR1H4_uc001ths.1_Silent_p.T229T	p.T233T	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			4	727	+			233					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	ENST00000551379.1	37	c.699C>G	CCDS55876.1																																																																																				PASS	0.428	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		20	37	20	37	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101551154	101551154	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:101551154G>A	ENST00000536262.2	-	15	2294	c.1736C>T	c.(1735-1737)tCa>tTa	p.S579L		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.S579L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACTGGATGTGATTTATAGCT	0.373																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1735-1737)TCA>TTA		solute carrier family 5 (iodide transporter),							110.0	93.0	98.0					12																	101551154		2202	4300	6502	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101551154G>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1736C>T	12.37:g.101551154G>A	ENSP00000445340:p.Ser579Leu						p.S579L	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			15	2126	-			579			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.1736C>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.923006	0.18056	.	.	ENSG00000256870	ENST00000536262	D	0.85484	-1.99	5.15	4.24	0.50183	.	0.605902	0.17158	N	0.184801	T	0.75459	0.3852	L	0.31294	0.92	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.59894	-0.7368	10	0.22706	T	0.39	.	10.356	0.43964	0.0949:0.0:0.9051:0.0	.	579	Q8N695	SC5A8_HUMAN	L	579	ENSP00000445340:S579L	ENSP00000445340:S579L	S	-	2	0	SLC5A8	100075285	1.000000	0.71417	0.907000	0.35723	0.058000	0.15608	3.487000	0.53222	1.285000	0.44548	0.655000	0.94253	TCA		PASS	0.373	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		5	16	5	16	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101603342	101603342	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:101603342C>T	ENST00000536262.2	-	1	843	c.285G>A	c.(283-285)gtG>gtA	p.V95V		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.V95V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGATGACCACCACAAAGAAGT	0.577																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(283-285)GTG>GTA		solute carrier family 5 (iodide transporter),							62.0	52.0	55.0					12																	101603342		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101603342C>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.285G>A	12.37:g.101603342C>T							p.V95V	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			1	675	-			95			Helical; (Potential).			Silent	SNP	ENST00000536262.2	37	c.285G>A	CCDS9080.1																																																																																				PASS	0.577	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		9	26	9	26	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101731884	101731884	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:101731884A>T	ENST00000261637.4	+	30	3871	c.3697A>T	c.(3697-3699)Acc>Tcc	p.T1233S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1233					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.T1233S(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGATATCCTGACCAATGTTTT	0.388																																						uc001tia.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(3697-3699)ACC>TCC		down-regulated in metastasis							132.0	133.0	133.0					12																	101731884		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101731884A>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3697A>T	12.37:g.101731884A>T	ENSP00000261637:p.Thr1233Ser						p.T1233S	NM_014503	NP_055318	O75691	UTP20_HUMAN			30	3853	+			1233					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.3697A>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	5.673	0.308837	0.10733	.	.	ENSG00000120800	ENST00000261637	T	0.16897	2.31	5.63	4.49	0.54785	Armadillo-type fold (1);	0.415049	0.28683	N	0.014487	T	0.05593	0.0147	N	0.04508	-0.205	0.25118	N	0.990663	B	0.02656	0.0	B	0.01281	0.0	T	0.39313	-0.9620	10	0.07482	T	0.82	-5.9405	3.2743	0.06893	0.6307:0.1174:0.0713:0.1806	.	1233	O75691	UTP20_HUMAN	S	1233	ENSP00000261637:T1233S	ENSP00000261637:T1233S	T	+	1	0	UTP20	100256015	0.871000	0.30034	1.000000	0.80357	0.932000	0.56968	1.734000	0.38166	0.970000	0.38263	0.533000	0.62120	ACC		PASS	0.388	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		30	74	30	74	---	---	---	---
TDG	6996	broad.mit.edu	37	12	104379432	104379432	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:104379432A>G	ENST00000392872.3	+	9	1250	c.1016A>G	c.(1015-1017)gAg>gGg	p.E339G	TDG_ENST00000544861.1_Missense_Mutation_p.E196G|TDG_ENST00000266775.9_Missense_Mutation_p.E335G|TDG_ENST00000542036.1_Missense_Mutation_p.E135G|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	339					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.E339G(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CCAGGTTATGAGGCAGCATAT	0.403								Base excision repair (BER), DNA glycosylases																														uc001tkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(1015-1017)GAG>GGG	BER_DNA_glycosylases	thymine-DNA glycosylase							186.0	165.0	172.0					12																	104379432		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104379432A>G	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.1016A>G	12.37:g.104379432A>G	ENSP00000376611:p.Glu339Gly					TDG_uc009zuk.2_Missense_Mutation_p.E335G|TDG_uc010swi.1_Missense_Mutation_p.E196G|TDG_uc010swj.1_Missense_Mutation_p.E127G	p.E339G	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	9	1239	+			339					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.1016A>G	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086379	0.76642	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.33216	1.68;1.68;1.8;1.42	5.92	5.92	0.95590	.	0.096405	0.64402	D	0.000001	T	0.48295	0.1492	M	0.63843	1.955	0.80722	D	1	D;P;P	0.59767	0.986;0.914;0.856	P;B;B	0.56163	0.793;0.427;0.285	T	0.48547	-0.9026	10	0.66056	D	0.02	-27.1271	16.3742	0.83379	1.0:0.0:0.0:0.0	.	135;339;339	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	G	339;335;196;135	ENSP00000376611:E339G;ENSP00000266775:E335G;ENSP00000445899:E196G;ENSP00000439054:E135G	ENSP00000266775:E335G	E	+	2	0	TDG	102903562	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.324000	0.96373	2.263000	0.75096	0.533000	0.62120	GAG		PASS	0.403	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			17	115	17	115	---	---	---	---
CORO1C	23603	broad.mit.edu	37	12	109051103	109051103	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:109051103G>A	ENST00000261401.3	-	6	899	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	CORO1C_ENST00000541050.1_Missense_Mutation_p.R243W|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Missense_Mutation_p.R138W|CORO1C_ENST00000549772.1_Missense_Mutation_p.R249W|CORO1C_ENST00000420959.2_Missense_Mutation_p.R296W	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	243					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.R243W(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GCCAGCTGCCGCTCGCTCATG	0.557																																						uc001tnj.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(727-729)CGG>TGG		coronin, actin binding protein, 1C isoform 1							86.0	87.0	87.0					12																	109051103		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109051103G>A	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.727C>T	12.37:g.109051103G>A	ENSP00000261401:p.Arg243Trp					CORO1C_uc009zva.2_Missense_Mutation_p.R296W|CORO1C_uc010sxf.1_Missense_Mutation_p.R206W	p.R243W	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			6	823	-			243					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.727C>T	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397466	0.83120	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000421578;ENST00000549772;ENST00000420959	T;T;T;T;T	0.01388	4.95;4.95;4.95;4.95;4.95	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.953;1.0;0.999	T	0.01541	-1.1329	10	0.87932	D	0	-0.0163	14.5908	0.68362	0.0:0.0:0.8535:0.1465	.	206;296;243	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	W	243;243;138;249;296	ENSP00000261401:R243W;ENSP00000438341:R243W;ENSP00000415554:R138W;ENSP00000447534:R249W;ENSP00000394496:R296W	ENSP00000261401:R243W	R	-	1	2	CORO1C	107575232	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.388000	0.59633	2.444000	0.82710	0.637000	0.83480	CGG		PASS	0.557	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		41	81	41	81	---	---	---	---
FOXN4	121643	broad.mit.edu	37	12	109719363	109719363	+	Silent	SNP	G	G	T	rs201700235	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:109719363G>T	ENST00000299162.5	-	9	1247	c.1143C>A	c.(1141-1143)acC>acA	p.T381T	FOXN4_ENST00000355216.1_Silent_p.T201T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	381					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T201T(1)|p.T381T(1)		large_intestine(5)|lung(9)|ovary(2)	16						GCAGTGGCGGGGTCTGGGCTG	0.662																																						uc001toe.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(1141-1143)ACC>ACA		forkhead box N4							36.0	27.0	30.0					12																	109719363		2202	4299	6501	SO:0001819	synonymous_variant	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719363G>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1143C>A	12.37:g.109719363G>T						FOXN4_uc009zvg.2_Silent_p.T178T|FOXN4_uc001tof.3_Silent_p.T201T	p.T381T	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			9	1248	-			381					Q6ZMR4|Q96NZ0	Silent	SNP	ENST00000299162.5	37	c.1143C>A	CCDS9126.2																																																																																				PASS	0.662	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		6	8	6	8	---	---	---	---
COQ5	84274	broad.mit.edu	37	12	120966933	120966933	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:120966933G>A	ENST00000288532.6	-	1	52	c.12C>T	c.(10-12)ccC>ccT	p.P4P	COQ5_ENST00000445328.2_Silent_p.P4P	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	4					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.P4P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACAGCTCCCGGGGGCCGCCA	0.652																																						uc001tyn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(10-12)CCC>CCT		coenzyme Q5 homolog, methyltransferase							13.0	15.0	15.0					12																	120966933		2200	4295	6495	SO:0001819	synonymous_variant	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120966933G>A	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.12C>T	12.37:g.120966933G>A						COQ5_uc001tyo.2_5'UTR|COQ5_uc010szj.1_Silent_p.P4P	p.P4P	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN			1	32	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		4					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Silent	SNP	ENST00000288532.6	37	c.12C>T	CCDS31912.1																																																																																				PASS	0.652	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		12	19	12	19	---	---	---	---
ACADS	35	broad.mit.edu	37	12	121174802	121174802	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr12:121174802G>T	ENST00000242592.4	+	3	375	c.224G>T	c.(223-225)gGc>gTc	p.G75V	ACADS_ENST00000411593.2_Missense_Mutation_p.G75V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	75					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.G75V(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	AAGAAGATGGGCGGGCTTGGG	0.692																																						uc001tza.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(223-225)GGC>GTC		short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)						40.0	36.0	37.0					12																	121174802		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121174802G>T	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.224G>T	12.37:g.121174802G>T	ENSP00000242592:p.Gly75Val					ACADS_uc010szl.1_Missense_Mutation_p.G75V|ACADS_uc001tzb.3_Missense_Mutation_p.G2V	p.G75V	NM_000017	NP_000008	P16219	ACADS_HUMAN			3	342	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	75					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.224G>T	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910654	0.72983	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.99755	-6.64;-6.64	4.71	4.71	0.59529	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.91635	0.999;0.947;0.947	D	0.96883	0.9647	10	0.66056	D	0.02	.	18.027	0.89272	0.0:0.0:1.0:0.0	.	75;75;75	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	V	75	ENSP00000242592:G75V;ENSP00000401045:G75V	ENSP00000242592:G75V	G	+	2	0	ACADS	119659185	1.000000	0.71417	0.954000	0.39281	0.436000	0.31835	9.667000	0.98616	2.288000	0.76882	0.563000	0.77884	GGC		PASS	0.692	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		7	14	7	14	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20048124	20048124	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:20048124A>T	ENST00000400230.2	-	6	366	c.322T>A	c.(322-324)Tat>Aat	p.Y108N	TPTE2_ENST00000382977.4_Missense_Mutation_p.Y108N|TPTE2_ENST00000255310.6_Missense_Mutation_p.Y71N|TPTE2_ENST00000382975.4_Missense_Mutation_p.Y108N|TPTE2_ENST00000390680.2_Missense_Mutation_p.Y71N|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.Y108N|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	108					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y71N(1)|p.Y108N(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAGAACGATACTCCAAAGGA	0.333																																						uc001umd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(322-324)TAT>AAT		TPTE and PTEN homologous inositol lipid							53.0	61.0	58.0					13																	20048124		2201	4296	6497	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048124A>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.322T>A	13.37:g.20048124A>T	ENSP00000383089:p.Tyr108Asn					TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Missense_Mutation_p.Y71N|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.Y108N	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	533	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	108					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.322T>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	a	12.10	1.836997	0.32421	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	2.33	2.33	0.28932	.	0.402597	0.23817	U	0.044267	D	0.95708	0.8604	L	0.55990	1.75	0.09310	N	1	D;P	0.54601	0.967;0.941	P;P	0.52217	0.693;0.629	D	0.90059	0.4155	9	.	.	.	-4.6736	6.5803	0.22589	1.0:0.0:0.0:0.0	.	71;108	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	N	108;108;71;71;108;108;108	ENSP00000372438:Y108N;ENSP00000383089:Y108N;ENSP00000255310:Y71N;ENSP00000375098:Y71N;ENSP00000372437:Y108N;ENSP00000372435:Y108N	.	Y	-	1	0	TPTE2	18946124	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.675000	0.25232	1.319000	0.45190	0.338000	0.21704	TAT		PASS	0.333	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		34	94	34	94	---	---	---	---
SGCG	6445	broad.mit.edu	37	13	23777964	23777964	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:23777964T>A	ENST00000218867.3	+	2	255	c.131T>A	c.(130-132)cTc>cAc	p.L44H	SGCG_ENST00000545013.1_Missense_Mutation_p.L44H|SGCG_ENST00000537476.1_Missense_Mutation_p.L44H	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	44					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.L44H(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CTTCTTTTACTCATCATCCTC	0.378																																						uc001uom.2																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CTC>CAC		gamma sarcoglycan							257.0	223.0	235.0					13																	23777964		2203	4300	6503	SO:0001583	missense	6445				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr13:23777964T>A	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.131T>A	13.37:g.23777964T>A	ENSP00000218867:p.Leu44His					SGCG_uc009zzv.2_Missense_Mutation_p.L44H|SGCG_uc009zzw.2_Missense_Mutation_p.L44H	p.L44H	NM_000231	NP_000222	Q13326	SGCG_HUMAN		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)	2	286	+		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)	44			Helical; Signal-anchor for type II membrane protein; (Potential).		Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	c.131T>A	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404297	0.83230	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.95788	-3.81;-3.81;-3.81	5.45	5.45	0.79879	.	0.054332	0.85682	D	0.000000	D	0.97583	0.9208	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.98233	1.0484	10	0.66056	D	0.02	-7.7318	15.5137	0.75806	0.0:0.0:0.0:1.0	.	44	Q13326	SGCG_HUMAN	H	44	ENSP00000218867:L44H;ENSP00000444100:L44H;ENSP00000442232:L44H	ENSP00000218867:L44H	L	+	2	0	SGCG	22675964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.280000	0.78610	2.078000	0.62432	0.533000	0.62120	CTC		PASS	0.378	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		32	52	32	52	---	---	---	---
USPL1	10208	broad.mit.edu	37	13	31227421	31227421	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:31227421A>T	ENST00000255304.4	+	8	1717	c.1375A>T	c.(1375-1377)Aca>Tca	p.T459S		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	459	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.T459S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TCATTTTATAACATGGATTTT	0.328																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(1375-1377)ACA>TCA		ubiquitin specific peptidase like 1							100.0	98.0	99.0					13																	31227421		2203	4299	6502	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31227421A>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1375A>T	13.37:g.31227421A>T	ENSP00000255304:p.Thr459Ser					USPL1_uc001utd.2_Missense_Mutation_p.T130S|USPL1_uc001ute.1_Missense_Mutation_p.T130S	p.T459S	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	8	1807	+		Lung SC(185;0.0257)|Breast(139;0.203)	459					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.1375A>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878713	0.72294	.	.	ENSG00000132952	ENST00000255304	T	0.02631	4.22	5.24	4.05	0.47172	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.046666	0.85682	D	0.000000	T	0.05640	0.0148	L	0.61036	1.89	0.36935	D	0.892099	P	0.47545	0.897	P	0.47981	0.563	T	0.35798	-0.9774	10	0.46703	T	0.11	-12.0177	6.3714	0.21483	0.7856:0.0:0.0747:0.1397	.	459	Q5W0Q7	USPL1_HUMAN	S	459	ENSP00000255304:T459S	ENSP00000255304:T459S	T	+	1	0	USPL1	30125421	1.000000	0.71417	0.991000	0.47740	0.934000	0.57294	3.643000	0.54374	0.942000	0.37525	0.533000	0.62120	ACA		PASS	0.328	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		31	71	31	71	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39452269	39452269	+	Splice_Site	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:39452269A>T	ENST00000280481.7	+	22	8887		c.e22-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTCTATTTCAGGTGATATAA	0.393																																						uc001uwv.2																			1	Unknown(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.e22-2		FRAS1-related extracellular matrix protein 2							151.0	136.0	141.0					13																	39452269		2203	4300	6503	SO:0001630	splice_region_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39452269A>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8672-1A>T	13.37:g.39452269A>T							p.G2891_splice	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	22	8981	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)						Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Splice_Site	SNP	ENST00000280481.7	37	c.8672_splice	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928563	0.73327	.	.	ENSG00000150893	ENST00000280481	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5311	0.84359	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FREM2	38350269	1.000000	0.71417	0.994000	0.49952	0.610000	0.37248	9.307000	0.96226	2.306000	0.77630	0.482000	0.46254	.		PASS	0.393	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	Intron	48	85	48	85	---	---	---	---
EPSTI1	94240	broad.mit.edu	37	13	43500491	43500491	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:43500491C>T	ENST00000398762.3	-	7	637	c.638G>A	c.(637-639)gGc>gAc	p.G213D	EPSTI1_ENST00000313624.7_Missense_Mutation_p.G213D|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313640.7_Missense_Mutation_p.G213D			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	213								p.G213D(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GGATTGTGGGCCACAAACAGC	0.448																																						uc001uyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)GGC>GAC		epithelial stromal interaction 1 isoform 1							248.0	231.0	237.0					13																	43500491		2203	4300	6503	SO:0001583	missense	94240							g.chr13:43500491C>T	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.638G>A	13.37:g.43500491C>T	ENSP00000381746:p.Gly213Asp					EPSTI1_uc001uyx.1_Missense_Mutation_p.G213D	p.G213D	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	7	714	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	213					Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.638G>A	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	3.806	-0.040792	0.07452	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.21031	2.03	4.82	-0.336	0.12658	.	0.622203	0.16312	N	0.219943	T	0.06005	0.0156	N	0.02315	-0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.39354	-0.9618	10	0.13853	T	0.58	-2.6695	5.0279	0.14395	0.0:0.3714:0.1739:0.4547	.	213;213	Q96J88-2;Q96J88-3	.;.	D	213	ENSP00000318982:G213D	ENSP00000318643:G213D	G	-	2	0	EPSTI1	42398491	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.079000	0.14782	-0.124000	0.11724	-0.291000	0.09656	GGC		PASS	0.448	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		91	201	91	201	---	---	---	---
SLC25A30	253512	broad.mit.edu	37	13	45980021	45980021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:45980021C>A	ENST00000539591.1	-	3	314	c.151G>T	c.(151-153)Gaa>Taa	p.E51*				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	102					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.E102*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		CACTCACCTTCTGGGCGTTCA	0.473																																						uc001vag.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(304-306)GAA>TAA		solute carrier family 25, member 30							163.0	114.0	131.0					13																	45980021		2203	4300	6503	SO:0001587	stop_gained	253512				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	g.chr13:45980021C>A	AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.151G>T	13.37:g.45980021C>A	ENSP00000443542:p.Glu51*					SLC25A30_uc010tfs.1_Nonsense_Mutation_p.E27*|SLC25A30_uc001vah.2_Nonsense_Mutation_p.E27*|SLC25A30_uc010tft.1_Nonsense_Mutation_p.E51*|SLC25A30_uc001vaf.2_5'Flank	p.E102*	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	4	441	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	102					B2RN96|B4DZK3|F5H8H8	Nonsense_Mutation	SNP	ENST00000539591.1	37	c.304G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.640166	0.96693	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591;ENST00000519547;ENST00000522438	.	.	.	5.42	5.42	0.78866	.	0.634636	0.17472	N	0.173043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	18.5879	0.91197	0.0:1.0:0.0:0.0	.	.	.	.	X	102;27;51;51;27	.	ENSP00000429308:E51X	E	-	1	0	SLC25A30	44878021	1.000000	0.71417	0.963000	0.40424	0.615000	0.37417	7.404000	0.79996	2.691000	0.91804	0.655000	0.94253	GAA		PASS	0.473	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736		24	61	24	61	---	---	---	---
RNF219	79596	broad.mit.edu	37	13	79213075	79213075	+	Silent	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:79213075T>A	ENST00000282003.6	-	4	490	c.432A>T	c.(430-432)ctA>ctT	p.L144L		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	144							zinc ion binding (GO:0008270)	p.L144L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TATCTGTGACTAGATGTTTGT	0.363																																						uc001vkw.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(430-432)CTA>CTT		ring finger protein 219							192.0	181.0	185.0					13																	79213075		2203	4300	6503	SO:0001819	synonymous_variant	79596						zinc ion binding	g.chr13:79213075T>A	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.432A>T	13.37:g.79213075T>A						RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.L144L	p.L144L	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	4	491	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	144					B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	ENST00000282003.6	37	c.432A>T	CCDS31997.1																																																																																				PASS	0.363	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		35	88	35	88	---	---	---	---
RNF219	79596	broad.mit.edu	37	13	79213097	79213097	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:79213097T>A	ENST00000282003.6	-	4	468	c.410A>T	c.(409-411)aAc>aTc	p.N137I		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	137							zinc ion binding (GO:0008270)	p.N137I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTCATTTTGGTTGCCCTGCAC	0.368																																						uc001vkw.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(409-411)AAC>ATC		ring finger protein 219							175.0	166.0	169.0					13																	79213097		2203	4300	6503	SO:0001583	missense	79596						zinc ion binding	g.chr13:79213097T>A	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.410A>T	13.37:g.79213097T>A	ENSP00000282003:p.Asn137Ile					RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Missense_Mutation_p.N137I	p.N137I	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	4	469	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	137					B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.410A>T	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076806	0.55753	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.71	1.99	0.26369	.	0.585786	0.19195	N	0.120339	T	0.22282	0.0537	N	0.14661	0.345	0.25203	N	0.990036	P	0.43169	0.8	B	0.42462	0.388	T	0.07616	-1.0763	9	0.38643	T	0.18	-3.1164	9.395	0.38397	0.0:0.304:0.0:0.696	.	137	Q5W0B1	RN219_HUMAN	I	137	.	ENSP00000282003:N137I	N	-	2	0	RNF219	78111098	0.965000	0.33210	1.000000	0.80357	0.922000	0.55478	0.045000	0.14013	0.456000	0.26937	0.533000	0.62120	AAC		PASS	0.368	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		34	89	34	89	---	---	---	---
GPC6	10082	broad.mit.edu	37	13	95050862	95050862	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:95050862T>G	ENST00000377047.4	+	8	2047	c.1432T>G	c.(1432-1434)Tac>Gac	p.Y478D		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	478					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Y478D(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AAAAAACGCCTACAATGGCAA	0.428																																						uc001vlt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1432-1434)TAC>GAC		glypican 6 precursor							88.0	76.0	80.0					13																	95050862		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95050862T>G	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1432T>G	13.37:g.95050862T>G	ENSP00000366246:p.Tyr478Asp						p.Y478D	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			8	2064	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	478					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.1432T>G	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231573	0.79688	.	.	ENSG00000183098	ENST00000377047	T	0.50277	0.75	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	M	0.89785	3.06	0.47123	D	0.99932	D	0.59357	0.985	D	0.64877	0.93	T	0.76822	-0.2817	10	0.42905	T	0.14	.	15.7275	0.77774	0.0:0.0:0.0:1.0	.	478	Q9Y625	GPC6_HUMAN	D	478	ENSP00000366246:Y478D	ENSP00000366246:Y478D	Y	+	1	0	GPC6	93848863	1.000000	0.71417	0.932000	0.37286	0.896000	0.52359	6.206000	0.72154	2.164000	0.68074	0.533000	0.62120	TAC		PASS	0.428	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		16	50	16	50	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96589190	96589190	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:96589190T>A	ENST00000376747.3	-	17	2035	c.1965A>T	c.(1963-1965)agA>agT	p.R655S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	655					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.R655S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAAAAACTTCTCTTTGTAAAT	0.244																																						uc001vmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1963-1965)AGA>AGT		UDP-glucose ceramide glucosyltransferase-like 2							50.0	53.0	52.0					13																	96589190		2202	4298	6500	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96589190T>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1965A>T	13.37:g.96589190T>A	ENSP00000365938:p.Arg655Ser						p.R655S	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			17	2135	-			655					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.1965A>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.981667	0.34942	.	.	ENSG00000102595	ENST00000376747	T	0.29655	1.56	5.66	-2.13	0.07144	.	0.182364	0.64402	D	0.000015	T	0.33118	0.0852	M	0.82323	2.585	0.80722	D	1	B	0.26708	0.157	B	0.35114	0.196	T	0.16305	-1.0407	10	0.87932	D	0	-1.2309	4.2899	0.10872	0.2439:0.304:0.0:0.452	.	655	Q9NYU1	UGGG2_HUMAN	S	655	ENSP00000365938:R655S	ENSP00000365938:R655S	R	-	3	2	UGGT2	95387191	0.961000	0.32948	0.092000	0.20876	0.421000	0.31385	0.144000	0.16135	-0.202000	0.10268	-0.333000	0.08304	AGA		PASS	0.244	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		26	40	26	40	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100637327	100637327	+	Silent	SNP	C	C	A	rs185662169	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:100637327C>A	ENST00000376335.3	+	2	1496	c.1203C>A	c.(1201-1203)tcC>tcA	p.S401S	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	401					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S401S(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCGACAAGTCCTACACGCACC	0.667																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1201-1203)TCC>TCA		zinc finger protein of the cerebellum 2							132.0	110.0	118.0					13																	100637327		2203	4300	6503	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637327C>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1203C>A	13.37:g.100637327C>A							p.S401S	NM_007129	NP_009060	O95409	ZIC2_HUMAN			2	1203	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		401			C2H2-type 5.		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.1203C>A	CCDS9495.1																																																																																				PASS	0.667	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		26	64	26	64	---	---	---	---
ARGLU1	55082	broad.mit.edu	37	13	107196490	107196490	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr13:107196490T>C	ENST00000400198.3	-	4	920	c.676A>G	c.(676-678)Att>Gtt	p.I226V	ARGLU1_ENST00000375926.1_Missense_Mutation_p.I95V|ARGLU1_ENST00000472226.1_5'UTR	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	226	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.I226V(1)		large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCTTCAACAATTCTCAACTGT	0.318																																						uc001vqk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)ATT>GTT		arginine and glutamate rich 1							116.0	104.0	108.0					13																	107196490		1811	4062	5873	SO:0001583	missense	55082							g.chr13:107196490T>C	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.676A>G	13.37:g.107196490T>C	ENSP00000383059:p.Ile226Val						p.I226V	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN			4	923	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		226			Glu-rich.		B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP	ENST00000400198.3	37	c.676A>G	CCDS41906.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002113	0.35320	.	.	ENSG00000134884	ENST00000400198;ENST00000375926	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	L	0.46157	1.445	0.58432	D	0.999998	P	0.38863	0.65	P	0.51079	0.658	T	0.62835	-0.6770	9	0.23891	T	0.37	-1.168	15.3849	0.74691	0.0:0.0:0.0:1.0	.	226	Q9NWB6	ARGL1_HUMAN	V	226;95	.	ENSP00000365092:I95V	I	-	1	0	ARGLU1	105994491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	2.037000	0.60232	0.528000	0.53228	ATT		PASS	0.318	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		22	32	22	32	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249278	20249278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:20249278C>A	ENST00000315957.4	+	1	878	c.797C>A	c.(796-798)tCa>tAa	p.S266*		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S266*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATTTGACTCATTTTCCCTA	0.413																																						uc010tku.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(796-798)TCA>TAA		olfactory receptor, family 4, subfamily M,							220.0	209.0	213.0					14																	20249278		2203	4300	6503	SO:0001587	stop_gained	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249278C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.797C>A	14.37:g.20249278C>A	ENSP00000319654:p.Ser266*						p.S266*	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	797	+	all_cancers(95;0.00108)		266			Extracellular (Potential).		B9EH18|Q6IFA3	Nonsense_Mutation	SNP	ENST00000315957.4	37	c.797C>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.126962	0.77549	.	.	ENSG00000176299	ENST00000315957	.	.	.	4.42	4.42	0.53409	.	0.300516	0.24330	N	0.039471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-6.5244	10.0403	0.42153	0.201:0.799:0.0:0.0	.	.	.	.	X	266	.	ENSP00000319654:S266X	S	+	2	0	OR4M1	19319118	0.000000	0.05858	0.980000	0.43619	0.885000	0.51271	0.394000	0.20834	2.468000	0.83385	0.506000	0.49869	TCA		PASS	0.413	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			39	192	39	192	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51192658	51192658	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:51192658C>A	ENST00000382041.3	-	30	6395	c.6205G>T	c.(6205-6207)Ggt>Tgt	p.G2069C	RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Intron|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000245441.5_Intron|NIN_ENST00000382043.4_Missense_Mutation_p.G1356C	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2069					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.G2075C(1)|p.G2069C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CAGAGATGACCGGGTAGGCTC	0.398			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(6205-6207)GGT>TGT		ninein isoform 5							229.0	200.0	210.0					14																	51192658		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51192658C>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6205G>T	14.37:g.51192658C>A	ENSP00000371472:p.Gly2069Cys					NIN_uc001wyi.2_Intron|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Missense_Mutation_p.G1356C|NIN_uc010tqp.1_Missense_Mutation_p.G2075C	p.G2069C	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			30	6396	-	all_epithelial(31;0.00244)|Breast(41;0.127)		2069					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.6205G>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.42|17.42	3.385843|3.385843	0.61956|0.61956	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000382043;ENST00000324292;ENST00000382041|ENST00000389869	T;T|.	0.12879|.	2.64;3.17|.	5.93|5.93	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.15003|0.15003	0.0362|0.0362	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D;D;D|.	0.64830|.	0.994;0.994;0.981|.	P;P;P|.	0.57960|.	0.83;0.83;0.487|.	T|T	0.29243|0.29243	-1.0018|-1.0018	9|5	0.87932|.	D|.	0|.	.|.	4.877|4.877	0.13662|0.13662	0.2173:0.4186:0.2907:0.0734|0.2173:0.4186:0.2907:0.0734	.|.	2075;2069;1356|.	Q8N4C6-5;Q8N4C6;Q5BKU3|.	.;NIN_HUMAN;.|.	C|L	1356;2075;2069|1559	ENSP00000371474:G1356C;ENSP00000371472:G2069C|.	ENSP00000324099:G2075C|.	G|R	-|-	1|2	0|0	NIN|NIN	50262408|50262408	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.211000|0.211000	0.24417|0.24417	-0.267000|-0.267000	0.08619|0.08619	0.068000|0.068000	0.16574|0.16574	0.655000|0.655000	0.94253|0.94253	GGT|CGG		PASS	0.398	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		40	86	40	86	---	---	---	---
C14orf37	145407	broad.mit.edu	37	14	58605787	58605787	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:58605787T>A	ENST00000267485.7	-	2	484	c.290A>T	c.(289-291)cAg>cTg	p.Q97L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	97						integral component of membrane (GO:0016021)		p.Q97L(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TTGTCCAGGCTGGGTTTCTTT	0.488																																						uc001xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)CAG>CTG		hypothetical protein LOC145407 precursor							105.0	105.0	105.0					14																	58605787		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605787T>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.290A>T	14.37:g.58605787T>A	ENSP00000267485:p.Gln97Leu					C14orf37_uc010tro.1_Missense_Mutation_p.Q135L|C14orf37_uc001xdd.2_Missense_Mutation_p.Q97L|C14orf37_uc001xde.2_Missense_Mutation_p.Q97L	p.Q97L	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	401	-			97			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.290A>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	5.571	0.290221	0.10567	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.18502	2.21	5.82	-0.904	0.10530	.	1.026890	0.07686	N	0.937867	T	0.08492	0.0211	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.16802	0.002;0.019;0.002;0.002	B;B;B;B	0.09377	0.002;0.004;0.002;0.003	T	0.38845	-0.9642	10	0.25106	T	0.35	0.1077	1.316	0.02107	0.1227:0.2238:0.2813:0.3723	.	135;97;97;97	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	L	97;135	ENSP00000267485:Q97L	ENSP00000267485:Q97L	Q	-	2	0	C14orf37	57675540	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.034000	0.12225	-0.386000	0.07821	-1.117000	0.02048	CAG		PASS	0.488	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		38	64	38	64	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74825314	74825314	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:74825314C>A	ENST00000256362.4	+	2	2069	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	610					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.Q610K(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGGGGCCCTGCAGGAGGGGGC	0.667																																						uc001xpw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1828-1830)CAG>AAG		hypothetical protein LOC55237							22.0	28.0	26.0					14																	74825314		2200	4298	6498	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825314C>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1828C>A	14.37:g.74825314C>A	ENSP00000256362:p.Gln610Lys						p.Q610K	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	2019	+			610					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1828C>A	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	1.097	-0.662313	0.03454	.	.	ENSG00000133980	ENST00000256362	T	0.42131	0.98	3.53	1.5	0.22942	.	0.982455	0.08239	U	0.976325	T	0.23886	0.0578	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.09377	0.004	T	0.21245	-1.0251	10	0.09338	T	0.73	.	10.1709	0.42908	0.3804:0.6196:0.0:0.0	.	610	Q9H8Y1	VRTN_HUMAN	K	610	ENSP00000256362:Q610K	ENSP00000256362:Q610K	Q	+	1	0	VRTN	73895067	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-1.385000	0.02540	0.217000	0.20800	0.478000	0.44815	CAG		PASS	0.667	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		7	54	7	54	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75265623	75265623	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:75265623G>C	ENST00000325680.7	+	5	3747	c.3623G>C	c.(3622-3624)gGt>gCt	p.G1208A	YLPM1_ENST00000238571.3_Missense_Mutation_p.G1013A|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1013	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.G1208A(1)|p.G1013A(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCATTAGATGGTAGAAATGCT	0.468																																						uc001xqj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(3622-3624)GGT>GCT		YLP motif containing 1							61.0	56.0	57.0					14																	75265623		1959	4147	6106	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265623G>C	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3623G>C	14.37:g.75265623G>C	ENSP00000324463:p.Gly1208Ala					YLPM1_uc001xql.3_RNA	p.G1208A	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	3747	+			1013			Arg-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.3623G>C	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308241	0.40895	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.52	5.52	0.82312	.	0.084393	0.51477	D	0.000085	T	0.27798	0.0684	L	0.31664	0.95	0.26488	N	0.974996	P	0.41784	0.762	B	0.44278	0.445	T	0.12372	-1.0550	9	0.10636	T	0.68	-11.9978	10.0014	0.41931	0.1503:0.0:0.8497:0.0	.	1208	P49750-4	.	A	1208;1013;921	.	ENSP00000238571:G1013A	G	+	2	0	YLPM1	74335376	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.767000	0.47637	2.608000	0.88229	0.448000	0.29417	GGT		PASS	0.468	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		15	24	15	24	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79276669	79276669	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:79276669A>T	ENST00000554719.1	+	7	1629	c.1138A>T	c.(1138-1140)Agg>Tgg	p.R380W	NRXN3_ENST00000335750.5_Missense_Mutation_p.R380W	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	158					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.R380W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGACTGTATCAGGATAAACTG	0.343																																						uc001xun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1138-1140)AGG>TGG		neurexin 3 isoform 1 precursor							117.0	105.0	109.0					14																	79276669		2202	4298	6500	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79276669A>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1138A>T	14.37:g.79276669A>T	ENSP00000451648:p.Arg380Trp					NRXN3_uc001xum.1_Intron|NRXN3_uc010asv.1_Intron	p.R380W	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	7	1629	+		Renal(4;0.00876)	753			Laminin G-like 4.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1138A>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112081	0.77210	.	.	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750	T;T	0.69306	-0.39;-0.39	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	.	.	.	0.58432	D	0.999999	P	0.49253	0.921	P	0.60541	0.876	T	0.79125	-0.1932	8	.	.	.	.	16.215	0.82206	1.0:0.0:0.0:0.0	.	380	Q9Y4C0-3	.	W	753;380;380	ENSP00000451648:R380W;ENSP00000338349:R380W	.	R	+	1	2	NRXN3	78346422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.288000	0.76882	0.533000	0.62120	AGG		PASS	0.343	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		9	22	9	22	---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92488131	92488131	+	Silent	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:92488131A>G	ENST00000267622.4	-	4	730	c.357T>C	c.(355-357)gaT>gaC	p.D119D		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	119					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.D119D(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCAGCAACTGATCCTGGAGTG	0.408			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(355-357)GAT>GAC		thyroid hormone receptor interactor 11							84.0	83.0	83.0					14																	92488131		2203	4300	6503	SO:0001819	synonymous_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92488131A>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.357T>C	14.37:g.92488131A>G							p.D119D	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	4	1145	-			119			Potential.		B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	c.357T>C	CCDS9899.1																																																																																				PASS	0.408	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			30	55	30	55	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94088791	94088791	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:94088791G>A	ENST00000393151.2	+	30	5212	c.5212G>A	c.(5212-5214)Ggt>Agt	p.G1738S	UNC79_ENST00000555664.1_Missense_Mutation_p.G1738S|UNC79_ENST00000553484.1_Missense_Mutation_p.G1760S|UNC79_ENST00000256339.4_Missense_Mutation_p.G1561S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1738					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1760S(1)|p.G1561S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTTCTCCTGCGGTAGCCCACT	0.577																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(4747-4749)GGT>AGT		hypothetical protein LOC57578							66.0	71.0	70.0					14																	94088791		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088791G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5212G>A	14.37:g.94088791G>A	ENSP00000376858:p.Gly1738Ser					KIAA1409_uc001ybs.1_Missense_Mutation_p.G1561S	p.G1583S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4830	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1738					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4747G>A		.	.	.	.	.	.	.	.	.	.	G	15.72	2.917981	0.52546	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19394	2.18;2.15;2.19;2.18	5.2	5.2	0.72013	.	0.052025	0.85682	D	0.000000	T	0.14874	0.0359	L	0.27053	0.805	0.49299	D	0.999773	D	0.56287	0.975	B	0.38683	0.279	T	0.08868	-1.0701	10	0.13470	T	0.59	-18.5238	18.7199	0.91689	0.0:0.0:1.0:0.0	.	1760	C9JQL1	.	S	1561;1738;1760;1738;1760	ENSP00000256339:G1561S;ENSP00000450868:G1738S;ENSP00000451360:G1760S;ENSP00000376858:G1738S	ENSP00000256339:G1561S	G	+	1	0	KIAA1409	93158544	1.000000	0.71417	0.945000	0.38365	0.590000	0.36582	7.269000	0.78482	2.433000	0.82419	0.305000	0.20034	GGT		PASS	0.577	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		33	90	33	90	---	---	---	---
MARK3	4140	broad.mit.edu	37	14	103932708	103932708	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:103932708C>A	ENST00000429436.2	+	10	1436	c.926C>A	c.(925-927)gCa>gAa	p.A309E	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Missense_Mutation_p.A230E|MARK3_ENST00000416682.2_Missense_Mutation_p.A332E|MARK3_ENST00000303622.9_Missense_Mutation_p.A309E|MARK3_ENST00000335102.5_Missense_Mutation_p.A332E|MARK3_ENST00000553942.1_Missense_Mutation_p.A309E|MARK3_ENST00000216288.7_Missense_Mutation_p.A309E	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	309						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A309E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TGGATCAATGCAGGGCATGAA	0.353																																						uc001ymz.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|stomach(1)	4						c.(925-927)GCA>GAA		MAP/microtubule affinity-regulating kinase 3							102.0	90.0	94.0					14																	103932708		1889	4112	6001	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103932708C>A	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.926C>A	14.37:g.103932708C>A	ENSP00000411397:p.Ala309Glu					MARK3_uc001ymx.3_Missense_Mutation_p.A309E|MARK3_uc001ymw.3_Missense_Mutation_p.A309E|MARK3_uc001yna.3_Missense_Mutation_p.A309E|MARK3_uc001ymy.3_Missense_Mutation_p.A230E|MARK3_uc010awp.2_Missense_Mutation_p.A332E|MARK3_uc010tyb.1_Missense_Mutation_p.A120E	p.A309E	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Epithelial(46;0.241)		10	1592	+		Melanoma(154;0.155)	309					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.926C>A	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.54|17.54	3.414656|3.414656	0.62511|0.62511	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942|ENST00000554627	T;T;T;T;T;T;T|.	0.71817|.	-0.6;3.24;-0.55;-0.57;-0.56;1.97;-0.58|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Protein kinase-like domain (1);|.	0.047302|.	0.85682|.	D|.	0.000000|.	T|T	0.44746|0.44746	0.1308|0.1308	N|N	0.04018|0.04018	-0.295|-0.295	0.80722|0.80722	D|D	1|1	B;B;B;B;P;B;B|.	0.40144|.	0.049;0.021;0.022;0.012;0.704;0.197;0.004|.	B;B;B;B;B;B;B|.	0.34452|.	0.026;0.026;0.01;0.018;0.183;0.096;0.01|.	T|T	0.41251|0.41251	-0.9519|-0.9519	10|5	0.59425|.	D|.	0.04|.	.|.	19.8215|19.8215	0.96599|0.96599	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	332;332;309;309;230;309;309|.	P27448-7;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;MARK3_HUMAN;.;.;.|.	E|K	332;230;332;309;309;309;309|77	ENSP00000335347:A332E;ENSP00000402104:A230E;ENSP00000408092:A332E;ENSP00000411397:A309E;ENSP00000303698:A309E;ENSP00000216288:A309E;ENSP00000450772:A309E|.	ENSP00000216288:A309E|.	A|Q	+|+	2|1	0|0	MARK3|MARK3	103002461|103002461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.887000|5.887000	0.69751|0.69751	2.679000|2.679000	0.91253|0.91253	0.650000|0.650000	0.86243|0.86243	GCA|CAG		PASS	0.353	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		16	22	16	22	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104206650	104206650	+	Silent	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:104206650C>A	ENST00000202556.9	-	12	2385	c.2103G>T	c.(2101-2103)gcG>gcT	p.A701A	PPP1R13B_ENST00000423488.2_Silent_p.A120A|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	701	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A701A(2)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGGGCCGGGGCGCGTTGGCCA	0.672																																						uc001yof.1																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)	1						c.(2101-2103)GCG>GCT		apoptosis-stimulating protein of p53, 1							45.0	55.0	52.0					14																	104206650		2089	4191	6280	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104206650C>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2103G>T	14.37:g.104206650C>A						PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.A568A	p.A701A	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			12	2386	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	701			Pro-rich.		B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.2103G>T	CCDS41997.1																																																																																				PASS	0.672	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		43	92	43	92	---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105204723	105204723	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr14:105204723G>T	ENST00000330877.2	+	3	391	c.306G>T	c.(304-306)gtG>gtT	p.V102V	ADSSL1_ENST00000332972.5_Silent_p.V145V	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1									p.V145V(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GCAACGGGGTGGTCATCCACT	0.527																																						uc001ypd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(304-306)GTG>GTT		adenylosuccinate synthase like 1 isoform 2	L-Aspartic Acid(DB00128)						107.0	93.0	98.0					14																	105204723		2203	4300	6503	SO:0001819	synonymous_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105204723G>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.306G>T	14.37:g.105204723G>T						INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Silent_p.V145V|ADSSL1_uc001ypf.2_RNA	p.V102V	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	3	380	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	102						Silent	SNP	ENST00000330877.2	37	c.306G>T	CCDS9990.1																																																																																				PASS	0.527	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			27	52	27	52	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24922057	24922057	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr15:24922057G>T	ENST00000329468.2	+	1	1517	c.1043G>T	c.(1042-1044)cGa>cTa	p.R348L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	348	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R348L(1)									CTGTGGGATCGAGGTGAGCTT	0.567																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1042-1044)CGA>CTA		hypothetical protein LOC23742							55.0	50.0	52.0					15																	24922057		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922057G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1043G>T	15.37:g.24922057G>T	ENSP00000333735:p.Arg348Leu						p.R348L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1517	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	348			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1043G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	17.80	3.478201	0.63849	.	.	ENSG00000185823	ENST00000329468	T	0.10573	2.86	1.93	-2.23	0.06930	.	4.252720	0.00857	N	0.001898	T	0.22898	0.0553	L	0.47190	1.495	0.09310	N	1	D	0.63046	0.992	D	0.72982	0.979	T	0.24977	-1.0145	10	0.34782	T	0.22	.	5.6696	0.17715	0.592:0.0:0.408:0.0	.	348	Q9NZP6	CO002_HUMAN	L	348	ENSP00000333735:R348L	ENSP00000333735:R348L	R	+	2	0	C15orf2	22473150	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-0.196000	0.09532	-0.563000	0.06078	0.313000	0.20887	CGA		PASS	0.567	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		14	42	14	42	---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25616072	25616072	+	Nonsense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr15:25616072T>A	ENST00000397954.2	-	4	1257	c.1258A>T	c.(1258-1260)Aag>Tag	p.K420*	UBE3A_ENST00000438097.1_Nonsense_Mutation_p.K397*|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Nonsense_Mutation_p.K397*|UBE3A_ENST00000566215.1_Nonsense_Mutation_p.K397*|UBE3A_ENST00000232165.3_Nonsense_Mutation_p.K417*			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	420	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.K420*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GGACCTTTCTTGTTTCTTCTT	0.443																																						uc001zaq.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(1258-1260)AAG>TAG		ubiquitin protein ligase E3A isoform 2							51.0	50.0	50.0					15																	25616072		2203	4299	6502	SO:0001587	stop_gained	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616072T>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1258A>T	15.37:g.25616072T>A	ENSP00000381045:p.Lys420*					uc001zae.2_Intron|UBE3A_uc001zar.2_Nonsense_Mutation_p.K397*|UBE3A_uc001zas.2_Nonsense_Mutation_p.K417*|UBE3A_uc001zat.2_Nonsense_Mutation_p.K397*	p.K420*	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	4	1258	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	420			Interaction with HCV core protein.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Nonsense_Mutation	SNP	ENST00000397954.2	37	c.1258A>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	T	42	9.466074	0.99178	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7498	0.77976	0.0:0.0:0.0:1.0	.	.	.	.	X	417;417;420;397;397	.	ENSP00000232165:K417X	K	-	1	0	UBE3A	23167165	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.095000	0.64529	2.131000	0.65755	0.383000	0.25322	AAG		PASS	0.443	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		13	28	13	28	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35210502	35210502	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr15:35210502T>C	ENST00000156471.5	-	15	1524	c.1299A>G	c.(1297-1299)atA>atG	p.I433M		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	433					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I433M(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTTCATCCCATATAATTTTCT	0.348																																						uc001ziv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1297-1299)ATA>ATG		aquarius							105.0	99.0	101.0					15																	35210502		1823	4072	5895	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35210502T>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1299A>G	15.37:g.35210502T>C	ENSP00000156471:p.Ile433Met						p.I433M	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	15	1480	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	433					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1299A>G	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446818	0.63178	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94330	-3.4	4.6	-1.21	0.09524	.	0.047041	0.85682	D	0.000000	D	0.87617	0.6222	L	0.48174	1.505	0.44373	D	0.99727	P	0.40578	0.722	B	0.43052	0.406	T	0.78219	-0.2289	10	0.33940	T	0.23	-9.2471	2.0496	0.03567	0.3407:0.0862:0.1063:0.4668	.	433	O60306	AQR_HUMAN	M	433	ENSP00000156471:I433M	ENSP00000156471:I433M	I	-	3	3	AQR	32997794	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	2.913000	0.48790	-0.034000	0.13713	0.402000	0.26972	ATA		PASS	0.348	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		28	56	28	56	---	---	---	---
LTK	4058	broad.mit.edu	37	15	41804959	41804959	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr15:41804959G>T	ENST00000263800.6	-	3	401	c.305C>A	c.(304-306)gCc>gAc	p.A102D	LTK_ENST00000453182.2_Missense_Mutation_p.A102D|LTK_ENST00000355166.5_Missense_Mutation_p.A102D|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	102					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A102D(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAGCTGCCCGGCGGCCCCCAC	0.682										TSP Lung(18;0.14)																												uc001zoa.3																			2	Substitution - Missense(2)		lung(2)	lung(6)|central_nervous_system(1)	7						c.(304-306)GCC>GAC		leukocyte receptor tyrosine kinase isoform 1							11.0	12.0	11.0					15																	41804959		2185	4275	6460	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41804959G>T	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.305C>A	15.37:g.41804959G>T	ENSP00000263800:p.Ala102Asp	TSP Lung(18;0.14)				LTK_uc001zob.3_Missense_Mutation_p.A102D|LTK_uc010ucx.1_Missense_Mutation_p.A102D|LTK_uc010bcg.2_Intron	p.A102D	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	3	483	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	102			Extracellular (Potential).		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.305C>A	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237710	0.58886	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.76060	-0.99;-0.77;-0.94	4.08	-6.13	0.02118	.	0.797950	0.09953	U	0.734417	T	0.56031	0.1958	L	0.44542	1.39	0.09310	N	1	B;B;B	0.23128	0.08;0.078;0.046	B;B;B	0.25405	0.027;0.06;0.045	T	0.47100	-0.9143	10	0.40728	T	0.16	.	0.9705	0.01415	0.3209:0.0928:0.2339:0.3524	.	102;102;102	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	D	102	ENSP00000347293:A102D;ENSP00000263800:A102D;ENSP00000392196:A102D	ENSP00000263800:A102D	A	-	2	0	LTK	39592251	0.000000	0.05858	0.000000	0.03702	0.607000	0.37147	0.458000	0.21892	-0.974000	0.03550	0.491000	0.48974	GCC		PASS	0.682	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			11	12	11	12	---	---	---	---
CASC4	113201	broad.mit.edu	37	15	44705541	44705541	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr15:44705541A>T	ENST00000345795.2	+	9	1350	c.1080A>T	c.(1078-1080)gaA>gaT	p.E360D	RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000299957.6_Missense_Mutation_p.E416D	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	362						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E416D(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CAGATGATGAAGAACGAGAGC	0.328																																						uc001ztp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1246-1248)GAA>GAT		cancer susceptibility candidate 4 isoform a							59.0	58.0	58.0					15																	44705541		2198	4297	6495	SO:0001583	missense	113201					integral to membrane		g.chr15:44705541A>T	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.1080A>T	15.37:g.44705541A>T	ENSP00000335063:p.Glu360Asp					CASC4_uc001ztq.2_Missense_Mutation_p.E360D	p.E416D	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	10	1547	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.1248A>T	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258805	0.59321	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.81	2.41	0.29592	.	0.324515	0.32372	N	0.006190	T	0.47021	0.1423	N	0.08118	0	0.80722	D	1	D;D	0.67145	0.996;0.99	D;D	0.75484	0.986;0.979	T	0.45454	-0.9260	9	0.45353	T	0.12	.	7.7439	0.28858	0.8266:0.0:0.1734:0.0	.	360;416	Q6P4E1-2;G5E934	.;.	D	416;360;395	.	ENSP00000299957:E416D	E	+	3	2	CASC4	42492833	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.080000	0.30779	0.764000	0.33197	0.524000	0.50904	GAA		PASS	0.328	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		20	42	20	42	---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45556903	45556903	+	Silent	SNP	G	G	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr15:45556903G>C	ENST00000347644.3	+	7	704	c.639G>C	c.(637-639)ggG>ggC	p.G213G	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	213					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.G213G(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TTGTCTTTGGGATCTTGGTCA	0.418																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(637-639)GGG>GGC		solute carrier family 28 (sodium-coupled							167.0	151.0	156.0					15																	45556903		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45556903G>C	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.639G>C	15.37:g.45556903G>C							p.G213G	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	7	704	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	213			Helical; (Potential).		A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.639G>C	CCDS10121.1																																																																																				PASS	0.418	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		6	137	6	137	---	---	---	---
HDC	3067	broad.mit.edu	37	15	50534531	50534531	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr15:50534531C>A	ENST00000267845.3	-	12	2317	c.1915G>T	c.(1915-1917)Gtc>Ttc	p.V639F	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.V606F	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.V639F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AAGCTGGGGACGCTGTAGAAT	0.507																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1915-1917)GTC>TTC		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						81.0	82.0	82.0					15																	50534531		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534531C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1915G>T	15.37:g.50534531C>A	ENSP00000267845:p.Val639Phe					HDC_uc001zxy.2_Missense_Mutation_p.V382F|HDC_uc010uff.1_Missense_Mutation_p.V606F	p.V639F	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	2021	-		all_lung(180;0.0138)	639						Missense_Mutation	SNP	ENST00000267845.3	37	c.1915G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503677	0.85176	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.19806	2.51;2.12	5.61	5.61	0.85477	.	0.000000	0.51477	D	0.000088	T	0.37265	0.0997	L	0.27053	0.805	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.18335	-1.0340	10	0.87932	D	0	-40.8107	19.6299	0.95698	0.0:1.0:0.0:0.0	.	606;639	B7ZM01;P19113	.;DCHS_HUMAN	F	639;606	ENSP00000267845:V639F;ENSP00000440252:V606F	ENSP00000267845:V639F	V	-	1	0	HDC	48321823	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.949000	0.75971	2.639000	0.89480	0.655000	0.94253	GTC		PASS	0.507	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			31	77	31	77	---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101436239	101436239	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr15:101436239C>T	ENST00000329841.5	+	7	1300	c.768C>T	c.(766-768)acC>acT	p.T256T	ALDH1A3_ENST00000346623.6_Silent_p.T149T|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	256					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)	p.T256T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	TCGCCTTCACCGGCTCCACAG	0.537																																						uc002bwn.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|lung(1)|pancreas(1)	4						c.(766-768)ACC>ACT		aldehyde dehydrogenase 1A3	NADH(DB00157)|Vitamin A(DB00162)						47.0	40.0	42.0					15																	101436239		2203	4300	6503	SO:0001819	synonymous_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101436239C>T	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.768C>T	15.37:g.101436239C>T						ALDH1A3_uc010bpb.2_Silent_p.T149T|uc002bwo.1_RNA	p.T256T	NM_000693	NP_000684	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		7	872	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		256					Q6NT64	Silent	SNP	ENST00000329841.5	37	c.768C>T	CCDS10389.1																																																																																				PASS	0.537	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			4	18	4	18	---	---	---	---
RGS11	8786	broad.mit.edu	37	16	321280	321280	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:321280C>A	ENST00000397770.3	-	12	801	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Missense_Mutation_p.D251Y|RGS11_ENST00000316163.5_Missense_Mutation_p.D241Y			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	262	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.D262Y(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACGAGGGGATCGTGGGGTCCA	0.662																																						uc002cgj.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(784-786)GAT>TAT		regulator of G-protein signalling 11 isoform 1							30.0	35.0	33.0					16																	321280		2203	4300	6503	SO:0001583	missense	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321280C>A	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.784G>T	16.37:g.321280C>A	ENSP00000380876:p.Asp262Tyr					RGS11_uc002cgi.1_Missense_Mutation_p.D241Y|RGS11_uc010bqs.1_Missense_Mutation_p.D251Y|RGS11_uc002cgk.1_Missense_Mutation_p.D78Y	p.D262Y	NM_183337	NP_899180	O94810	RGS11_HUMAN			12	787	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	262			G protein gamma.		O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	ENST00000397770.3	37	c.784G>T	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635194	0.47049	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.81163	-1.46;-1.46;-1.46	4.77	3.81	0.43845	G-protein gamma domain (4);	0.060444	0.64402	D	0.000005	D	0.91143	0.7211	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92292	0.5842	10	0.87932	D	0	-13.3222	12.3316	0.55043	0.0:0.9161:0.0:0.0839	.	251;262;262	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	Y	262;241;251	ENSP00000380876:D262Y;ENSP00000319069:D241Y;ENSP00000352778:D251Y	ENSP00000319069:D241Y	D	-	1	0	RGS11	261281	0.998000	0.40836	0.856000	0.33681	0.316000	0.28119	3.912000	0.56386	0.985000	0.38656	0.305000	0.20034	GAT		PASS	0.662	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			9	30	9	30	---	---	---	---
WDR90	197335	broad.mit.edu	37	16	716485	716485	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:716485C>G	ENST00000293879.4	+	38	4771	c.4771C>G	c.(4771-4773)Cta>Gta	p.L1591V	WDR90_ENST00000547944.1_Missense_Mutation_p.L190V|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000549091.1_Missense_Mutation_p.L1593V|RHOT2_ENST00000315082.4_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1591								p.L1591V(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGCACAGACCTATGGCTGGC	0.632																																						uc002cii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4771-4773)CTA>GTA		WD repeat domain 90							33.0	42.0	39.0					16																	716485		2033	4175	6208	SO:0001583	missense	197335							g.chr16:716485C>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4771C>G	16.37:g.716485C>G	ENSP00000293879:p.Leu1591Val					WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.L206V|WDR90_uc010uul.1_Intron|WDR90_uc002cio.1_Missense_Mutation_p.L190V|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	p.L1591V	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			38	4825	+		Hepatocellular(780;0.0218)	1591			WD 20.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4771C>G	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853621	0.51270	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944	T;T;T	0.68025	1.41;1.39;-0.3	4.49	1.23	0.21249	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.157646	0.43110	D	0.000612	T	0.78413	0.4279	M	0.85299	2.745	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.65443	0.935;0.887	T	0.75085	-0.3442	10	0.46703	T	0.11	.	8.3602	0.32355	0.0:0.722:0.0:0.278	.	190;1591	G3V201;Q96KV7	.;WDR90_HUMAN	V	1593;1591;190	ENSP00000448122:L1593V;ENSP00000293879:L1591V;ENSP00000449576:L190V	ENSP00000293879:L1591V	L	+	1	2	WDR90	656486	1.000000	0.71417	0.907000	0.35723	0.766000	0.43426	1.775000	0.38584	-0.017000	0.14103	-0.258000	0.10820	CTA		PASS	0.632	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		8	56	8	56	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2159681	2159681	+	Silent	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:2159681C>T	ENST00000262304.4	-	15	5695	c.5487G>A	c.(5485-5487)ctG>ctA	p.L1829L	PKD1_ENST00000423118.1_Silent_p.L1829L|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1829	PKD 14. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L1829L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGCCCGTGGCCAGCTGCCCCC	0.672																																						uc002cos.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(5485-5487)CTG>CTA		polycystin 1 isoform 1 precursor							5.0	5.0	5.0					16																	2159681		2034	4003	6037	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2159681C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5487G>A	16.37:g.2159681C>T						PKD1_uc002cot.1_Silent_p.L1829L	p.L1829L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	5696	-			1829			PKD 14.|Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.5487G>A	CCDS32369.1																																																																																				PASS	0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	9	3	9	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370813	20370813	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:20370813T>A	ENST00000302451.4	-	12	1831	c.1583A>T	c.(1582-1584)aAa>aTa	p.K528I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	528					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.K528I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGGTAACCCTTTCCTCATCAT	0.483																																						uc002dhc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1582-1584)AAA>ATA		protein disulfide isomerase-like, testis							207.0	176.0	187.0					16																	20370813		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370813T>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1583A>T	16.37:g.20370813T>A	ENSP00000305465:p.Lys528Ile						p.K528I	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			12	1806	-			528					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1583A>T	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.250745	0.22880	.	.	ENSG00000169340	ENST00000302451	T	0.03496	3.91	3.12	1.76	0.24704	.	1.021540	0.07827	N	0.960811	T	0.02688	0.0081	L	0.27053	0.805	0.09310	N	1	P	0.37015	0.578	B	0.27796	0.083	T	0.47623	-0.9103	10	0.33940	T	0.23	.	6.6026	0.22708	0.0:0.0:0.4124:0.5876	.	528	Q8N807	PDILT_HUMAN	I	528	ENSP00000305465:K528I	ENSP00000305465:K528I	K	-	2	0	PDILT	20278314	0.002000	0.14202	0.002000	0.10522	0.007000	0.05969	0.746000	0.26275	0.368000	0.24481	0.467000	0.42956	AAA		PASS	0.483	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		39	144	39	144	---	---	---	---
PRRT2	112476	broad.mit.edu	37	16	29824976	29824976	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:29824976C>A	ENST00000358758.7	+	2	884	c.601C>A	c.(601-603)Cac>Aac	p.H201N	AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567551.1_Intron|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.H201N|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.H201N	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	201	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.H201N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						CCCTGAGCCTCACTCACCACC	0.612																																						uc002due.3																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)CAC>AAC		proline-rich transmembrane protein 2							16.0	17.0	17.0					16																	29824976		2188	4290	6478	SO:0001583	missense	112476				response to biotic stimulus	integral to membrane		g.chr16:29824976C>A	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.601C>A	16.37:g.29824976C>A	ENSP00000351608:p.His201Asn					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.H201N|PRRT2_uc002duf.1_Missense_Mutation_p.H201N|C16orf53_uc002dug.3_5'Flank	p.H201N	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN			2	902	+			201			Extracellular (Potential).|Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.601C>A	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080496	0.36662	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.70282	-0.47;0.49	3.9	3.9	0.45041	.	0.379438	0.22529	N	0.058875	T	0.71962	0.3402	N	0.24115	0.695	0.31167	N	0.703666	D;D;D	0.67145	0.996;0.993;0.996	D;D;D	0.77557	0.99;0.956;0.981	T	0.69176	-0.5214	10	0.23891	T	0.37	-8.4052	13.7948	0.63164	0.0:1.0:0.0:0.0	.	201;201;201	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	N	201	ENSP00000351608:H201N;ENSP00000300797:H201N	ENSP00000300797:H201N	H	+	1	0	PRRT2	29732477	0.029000	0.19370	0.993000	0.49108	0.404000	0.30871	2.261000	0.43276	2.190000	0.69967	0.563000	0.77884	CAC		PASS	0.612	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		3	27	3	27	---	---	---	---
INO80E	283899	broad.mit.edu	37	16	30007643	30007643	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:30007643G>T	ENST00000563197.1	+	1	1029	c.12G>T	c.(10-12)ccG>ccT	p.P4P	HIRIP3_ENST00000564026.1_5'Flank|INO80E_ENST00000563040.1_3'UTR|INO80E_ENST00000304516.7_Silent_p.P4P|INO80E_ENST00000567254.1_Silent_p.P4P|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000567705.1_Silent_p.P4P|HIRIP3_ENST00000566471.1_5'Flank	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	4					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P4P(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						TGAACGGGCCGGCGGACGGCG	0.642																																						uc002dvg.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(10-12)CCG>CCT		INO80 complex subunit E							16.0	20.0	19.0					16																	30007643		2185	4279	6464	SO:0001819	synonymous_variant	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30007643G>T	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.12G>T	16.37:g.30007643G>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Silent_p.P4P|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Silent_p.P4P|HIRIP3_uc002dve.2_5'Flank|HIRIP3_uc002dvf.2_5'Flank	p.P4P	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN			1	113	+			4					Q6Y2K3	Silent	SNP	ENST00000563197.1	37	c.12G>T	CCDS10665.1																																																																																				PASS	0.642	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		6	7	6	7	---	---	---	---
ZNF768	79724	broad.mit.edu	37	16	30536224	30536224	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:30536224G>A	ENST00000380412.5	-	2	1412	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	ZNF768_ENST00000562803.1_Missense_Mutation_p.R382W	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	413					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R413W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGGGCCGACCGCTGGGAGAAG	0.647																																						uc002dyk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1237-1239)CGG>TGG		zinc finger protein 768							32.0	33.0	32.0					16																	30536224		2197	4300	6497	SO:0001583	missense	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536224G>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1237C>T	16.37:g.30536224G>A	ENSP00000369777:p.Arg413Trp					ZNF768_uc010vex.1_Missense_Mutation_p.R382W|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.R382W	p.R413W	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			2	1413	-			413			C2H2-type 6.		Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	c.1237C>T	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196697	0.58126	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.16196	2.36	4.72	4.72	0.59763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000689	T	0.34919	0.0914	L	0.58810	1.83	0.34860	D	0.742483	D	0.89917	1.0	D	0.69142	0.962	T	0.46484	-0.9188	10	0.72032	D	0.01	-15.0244	11.7733	0.51970	0.0:0.0:0.8238:0.1762	.	413	Q9H5H4	ZN768_HUMAN	W	413;326	ENSP00000369777:R413W	ENSP00000369777:R413W	R	-	1	2	ZNF768	30443725	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	0.187000	0.16998	2.470000	0.83445	0.436000	0.28706	CGG		PASS	0.647	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		15	36	15	36	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31287020	31287020	+	Splice_Site	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:31287020G>T	ENST00000287497.8	+	9	1084	c.1009G>T	c.(1009-1011)Ggt>Tgt	p.G337C	ITGAM_ENST00000544665.3_Splice_Site_p.G337C			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	337					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.G337C(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGCGATCGAGGGTGAGTCAGG	0.547																																						uc002ebq.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1009-1011)GGT>TGT		integrin alpha M isoform 2 precursor							54.0	55.0	54.0					16																	31287020		1999	4167	6166	SO:0001630	splice_region_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31287020G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1009+1G>T	16.37:g.31287020G>T						ITGAM_uc002ebr.2_Missense_Mutation_p.G337C|ITGAM_uc010cam.1_5'UTR	p.G337C	NM_000632	NP_000623	P11215	ITAM_HUMAN			9	1107	+			337			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1009G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683745	0.68157	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.73681	-0.77;-0.77	4.51	3.55	0.40652	.	.	.	.	.	D	0.89093	0.6617	H	0.95437	3.67	0.45318	D	0.998312	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91110	0.4921	9	0.87932	D	0	.	11.6931	0.51527	0.0883:0.0:0.9117:0.0	.	337;337	Q4VAK1;P11215	.;ITAM_HUMAN	C	337	ENSP00000441691:G337C;ENSP00000287497:G337C	ENSP00000287497:G337C	G	+	1	0	ITGAM	31194521	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.252000	0.72447	1.222000	0.43521	0.561000	0.74099	GGT		PASS	0.547	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	Missense_Mutation	16	28	16	28	---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47695708	47695708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:47695708G>T	ENST00000323584.5	+	23	2299	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*	PHKB_ENST00000566044.1_Nonsense_Mutation_p.E752*|PHKB_ENST00000455779.1_Nonsense_Mutation_p.E752*|PHKB_ENST00000299167.8_Nonsense_Mutation_p.E759*	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	759					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.E759*(2)|p.E752*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CATCACAAAGGAAGGTAAGCA	0.408																																						uc002eev.3																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(2275-2277)GAA>TAA		phosphorylase kinase, beta isoform a							113.0	108.0	110.0					16																	47695708		2201	4300	6501	SO:0001587	stop_gained	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47695708G>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2275G>T	16.37:g.47695708G>T	ENSP00000313504:p.Glu759*					PHKB_uc002eeu.3_Nonsense_Mutation_p.E752*	p.E759*	NM_000293	NP_000284	Q93100	KPBB_HUMAN			23	2327	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	759					Q8N4T5	Nonsense_Mutation	SNP	ENST00000323584.5	37	c.2275G>T	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	40	8.010436	0.98607	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	.	.	.	6.07	6.07	0.98685	.	0.118747	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-22.6462	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	752;752;759	.	ENSP00000299167:E752X	E	+	1	0	PHKB	46253209	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.497000	0.81536	2.885000	0.99019	0.655000	0.94253	GAA		PASS	0.408	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			30	46	30	46	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50816277	50816277	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:50816277C>T	ENST00000427738.3	+	10	1931	c.1726C>T	c.(1726-1728)Cca>Tca	p.P576S	CYLD_ENST00000540145.1_Missense_Mutation_p.P576S|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000569418.1_Missense_Mutation_p.P573S|CYLD_ENST00000564326.1_Missense_Mutation_p.P573S|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Missense_Mutation_p.P573S|CYLD_ENST00000311559.9_Missense_Mutation_p.P576S|CYLD_ENST00000568704.2_Missense_Mutation_p.P391S|CYLD_ENST00000566206.1_Missense_Mutation_p.P573S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	576	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.P576S(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGAAAATACTCCACCAAAAAT	0.308			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(1726-1728)CCA>TCA		ubiquitin carboxyl-terminal hydrolase CYLD							92.0	85.0	87.0					16																	50816277		1813	4078	5891	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50816277C>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1726C>T	16.37:g.50816277C>T	ENSP00000392025:p.Pro576Ser					CYLD_uc002ego.2_Missense_Mutation_p.P573S|CYLD_uc010cbs.1_Missense_Mutation_p.P573S|CYLD_uc002egq.1_Missense_Mutation_p.P573S|CYLD_uc002egr.1_Missense_Mutation_p.P573S|CYLD_uc002egs.1_Missense_Mutation_p.P573S	p.P576S	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			11	2141	+		all_cancers(37;0.0156)	576			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.1726C>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849072	0.91277	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	D;D;D	0.94046	-3.34;-3.34;-3.34	5.61	5.61	0.85477	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.996	D	0.95014	0.8154	10	0.59425	D	0.04	-15.3297	19.6376	0.95740	0.0:1.0:0.0:0.0	.	573;576;573;576	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	S	576;576;573;573	ENSP00000445447:P576S;ENSP00000308928:P576S;ENSP00000381574:P573S	ENSP00000308928:P576S	P	+	1	0	CYLD	49373778	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.405000	0.80007	2.633000	0.89246	0.591000	0.81541	CCA		PASS	0.308	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			8	31	8	31	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66434918	66434918	+	Splice_Site	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:66434918A>T	ENST00000341529.3	+	11	1984	c.1836A>T	c.(1834-1836)acA>acT	p.T612T	CDH5_ENST00000539168.1_Splice_Site_p.T51T	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	612					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.T612T(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TCACCATCACAGGTCAGTGCT	0.607																																						uc002eom.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1834-1836)ACA>ACT		cadherin 5, type 2 preproprotein							55.0	42.0	47.0					16																	66434918		2201	4300	6501	SO:0001630	splice_region_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66434918A>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1837+1A>T	16.37:g.66434918A>T							p.T612T	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	11	1992	+		Ovarian(137;0.0955)	612			Helical; (Potential).		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.1836A>T	CCDS10804.1																																																																																				PASS	0.607	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	Silent	18	29	18	29	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70935069	70935069	+	Silent	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:70935069C>A	ENST00000393567.2	-	53	9036	c.8886G>T	c.(8884-8886)acG>acT	p.T2962T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2962					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.T2913T(1)|p.T519T(1)|p.T2961T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAGGCAGGAGCGTGACATTGC	0.488																																						uc002ezr.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|skin(1)	2						c.(8881-8883)ACG>ACT		hydrocephalus inducing isoform a							20.0	21.0	21.0					16																	70935069		1832	4062	5894	SO:0001819	synonymous_variant	54768							g.chr16:70935069C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8886G>T	16.37:g.70935069C>A							p.T2961T	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			53	9011	-		Ovarian(137;0.0654)	2962					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.8883G>T	CCDS59269.1																																																																																				PASS	0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	46	7	46	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76501305	76501305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:76501305G>T	ENST00000476707.1	+	9	1688	c.1549G>T	c.(1549-1551)Gga>Tga	p.G517*	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.G441*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.G465*|CNTNAP4_ENST00000307431.8_Nonsense_Mutation_p.G513*|SNORD33_ENST00000516213.1_RNA			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	514	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.G441*(1)|p.G489*(1)|p.G513*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGATTTCAGGGATGTATGAG	0.428																																						uc002feu.1																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1540-1542)GGA>TGA		cell recognition protein CASPR4 isoform 1							126.0	117.0	120.0					16																	76501305		2198	4300	6498	SO:0001587	stop_gained	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76501305G>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1549G>T	16.37:g.76501305G>T	ENSP00000417628:p.Gly517*					CNTNAP4_uc002fev.1_Nonsense_Mutation_p.G378*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.G441*|CNTNAP4_uc002fex.1_Nonsense_Mutation_p.G517*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.G489*	p.G514*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			12	1925	+			514			Extracellular (Potential).|Laminin G-like 2.		E9PFZ6|Q86YZ7	Nonsense_Mutation	SNP	ENST00000476707.1	37	c.1540G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.072398	0.98044	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	5.42	5.42	0.78866	.	0.000000	0.40640	N	0.001054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9965	0.92815	0.0:0.0:1.0:0.0	.	.	.	.	X	513;465;441;517	.	ENSP00000306893:G513X	G	+	1	0	CNTNAP4	75058806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.071000	0.93980	2.819000	0.97034	0.650000	0.86243	GGA		PASS	0.428	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		30	40	30	40	---	---	---	---
ACSF3	197322	broad.mit.edu	37	16	89169054	89169054	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr16:89169054G>A	ENST00000317447.4	+	4	1086	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	ACSF3_ENST00000378345.4_5'UTR|ACSF3_ENST00000406948.3_Missense_Mutation_p.V237M	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	237					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)	p.V237M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CAAAGACGACGTGATCCTCCA	0.617																																						uc002fmp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)GTG>ATG		acyl-CoA synthetase family member 3 precursor							150.0	108.0	122.0					16																	89169054		2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89169054G>A	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.709G>A	16.37:g.89169054G>A	ENSP00000320646:p.Val237Met					ACSF3_uc010cig.1_Missense_Mutation_p.V237M|ACSF3_uc010cih.1_Translation_Start_Site|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Translation_Start_Site	p.V237M	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	4	1049	+			237					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.709G>A	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858744	0.71834	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948;ENST00000538340	T;T;T;T	0.55760	0.5;0.5;0.5;2.58	5.02	4.06	0.47325	AMP-dependent synthetase/ligase (1);	0.243042	0.41396	D	0.000894	T	0.67069	0.2854	M	0.93939	3.475	0.80722	D	1	P	0.42941	0.794	P	0.46253	0.509	T	0.73088	-0.4093	10	0.72032	D	0.01	-25.2639	9.5972	0.39580	0.1607:0.0:0.8393:0.0	.	237	Q4G176	ACSF3_HUMAN	M	237;237;237;12	ENSP00000320646:V237M;ENSP00000440734:V237M;ENSP00000384627:V237M;ENSP00000445870:V12M	ENSP00000320646:V237M	V	+	1	0	ACSF3	87696555	1.000000	0.71417	0.253000	0.24343	0.810000	0.45777	6.030000	0.70903	1.111000	0.41721	0.467000	0.42956	GTG		PASS	0.617	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		4	55	4	55	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577130	7577130	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr17:7577130A>T	ENST00000269305.4	-	8	997	c.808T>A	c.(808-810)Ttt>Att	p.F270I	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.F270I|TP53_ENST00000359597.4_Missense_Mutation_p.F270I|TP53_ENST00000420246.2_Missense_Mutation_p.F270I|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.F270I	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	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		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.F270L(15)|p.0?(8)|p.F270V(7)|p.F270I(5)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.S269fs*75(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(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)	CGCACCTCAAAGCTGTTCCGT	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		51	Substitution - Missense(27)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.S269fs*75(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1)	stomach(8)|large_intestine(7)|breast(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(2)|soft_tissue(1)|biliary_tract(1)|testis(1)|eye(1)|ovary(1)|liver(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.(808-810)TTT>ATT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							58.0	51.0	53.0					17																	7577130		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577130A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.808T>A	17.37:g.7577130A>T	ENSP00000269305:p.Phe270Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138I|TP53_uc010cng.1_Missense_Mutation_p.F138I|TP53_uc002gii.1_Missense_Mutation_p.F138I|TP53_uc010cnh.1_Missense_Mutation_p.F270I|TP53_uc010cni.1_Missense_Mutation_p.F270I|TP53_uc002gij.2_Missense_Mutation_p.F270I	p.F270I	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1002	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	270		F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.808T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	32	5.156372	0.94686	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	L	0.58101	1.795	0.58432	D	0.999999	D;B;D;D	0.89917	1.0;0.306;1.0;0.999	D;B;D;D	0.80764	0.994;0.197;0.993;0.994	D	0.97644	1.0150	10	0.87932	D	0	-25.5181	12.9367	0.58319	1.0:0.0:0.0:0.0	.	270;270;270;270	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	I	270;270;270;270;270;259;138	ENSP00000352610:F270I;ENSP00000269305:F270I;ENSP00000398846:F270I;ENSP00000391127:F270I;ENSP00000391478:F270I;ENSP00000425104:F138I	ENSP00000269305:F270I	F	-	1	0	TP53	7517855	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.060000	0.93907	2.154000	0.67381	0.379000	0.24179	TTT		PASS	0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	13	15	13	---	---	---	---
PIK3R5	23533	broad.mit.edu	37	17	8784089	8784089	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr17:8784089G>A	ENST00000447110.1	-	19	2634	c.2510C>T	c.(2509-2511)cCg>cTg	p.P837L	PIK3R5_ENST00000584803.1_Missense_Mutation_p.P836L|PIK3R5_ENST00000581552.1_Missense_Mutation_p.P837L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	837					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.P837L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTTGTAGCACGGTGAGACCTC	0.642																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2509-2511)CCG>CTG		phosphoinositide-3-kinase, regulatory subunit 5							91.0	77.0	82.0					17																	8784089		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8784089G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2510C>T	17.37:g.8784089G>A	ENSP00000392812:p.Pro837Leu					PIK3R5_uc010vuz.1_Missense_Mutation_p.P837L|PIK3R5_uc002glu.3_Missense_Mutation_p.P451L	p.P837L	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			19	2577	-			837					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.2510C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	8.269	0.812922	0.16537	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.79653	-1.29	5.17	5.17	0.71159	.	0.273614	0.36628	N	0.002497	T	0.67144	0.2862	L	0.27053	0.805	0.50467	D	0.999871	P	0.40398	0.716	B	0.32149	0.141	T	0.72443	-0.4292	10	0.56958	D	0.05	-35.2501	13.0456	0.58924	0.0802:0.0:0.9197:0.0	.	837	Q8WYR1	PI3R5_HUMAN	L	837	ENSP00000392812:P837L	ENSP00000269300:P837L	P	-	2	0	PIK3R5	8724814	1.000000	0.71417	0.997000	0.53966	0.235000	0.25334	4.772000	0.62324	2.409000	0.81822	0.561000	0.74099	CCG		PASS	0.642	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		5	28	5	28	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26966931	26966931	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr17:26966931G>T	ENST00000528896.2	-	9	1077	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	KIAA0100_ENST00000389003.3_Missense_Mutation_p.L192M|KIAA0100_ENST00000544884.1_Missense_Mutation_p.L192M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	335						extracellular region (GO:0005576)		p.L335M(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCCAGCAGCAGTTCAGTGCTC	0.512																																						uc002hbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1003-1005)CTG>ATG		hypothetical protein LOC9703 precursor							173.0	165.0	168.0					17																	26966931		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26966931G>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1003C>A	17.37:g.26966931G>T	ENSP00000436773:p.Leu335Met					KIAA0100_uc002hbv.2_Missense_Mutation_p.L335M|KIAA0100_uc010crr.1_Missense_Mutation_p.L192M	p.L335M	NM_014680	NP_055495	Q14667	K0100_HUMAN			9	1102	-	Lung NSC(42;0.00431)		335					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1003C>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944793	0.73672	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.38722	1.12;1.25	5.48	4.51	0.55191	FMP27, N-terminal (1);	0.065156	0.64402	D	0.000006	T	0.50837	0.1639	L	0.34521	1.04	0.47065	D	0.9993	D;D;D	0.63046	0.992;0.986;0.986	D;P;D	0.65874	0.939;0.836;0.913	T	0.47736	-0.9094	10	0.38643	T	0.18	.	14.5262	0.67890	0.0707:0.0:0.9293:0.0	.	192;335;335	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	M	335;335;335;192	ENSP00000436773:L335M;ENSP00000446443:L192M	ENSP00000005905:L335M	L	-	1	2	KIAA0100	23991058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.483000	0.60264	1.330000	0.45394	0.655000	0.94253	CTG		PASS	0.512	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		83	174	83	174	---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30521103	30521103	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr17:30521103G>A	ENST00000333942.6	+	11	1085	c.846G>A	c.(844-846)ttG>ttA	p.L282L	RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Silent_p.L282L|RHOT1_ENST00000581094.1_Silent_p.L282L|RHOT1_ENST00000394692.2_Silent_p.L282L|RHOT1_ENST00000358365.3_Silent_p.L282L|RHOT1_ENST00000583994.1_Silent_p.L155L|RHOT1_ENST00000354266.3_Silent_p.L261L	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	282					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L282L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ACCTGGATTTGACACCTGAAT	0.383																																						uc002hgz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(844-846)TTG>TTA		ras homolog gene family, member T1 isoform 3							486.0	475.0	479.0					17																	30521103		2203	4300	6503	SO:0001819	synonymous_variant	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30521103G>A	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.846G>A	17.37:g.30521103G>A						RHOT1_uc002hgw.2_Silent_p.L282L|RHOT1_uc002hgy.2_Silent_p.L282L|RHOT1_uc002hha.2_Silent_p.L155L|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Silent_p.L155L|RHOT1_uc010wby.1_Silent_p.L282L|RHOT1_uc002hhb.2_Silent_p.L261L|RHOT1_uc002hgv.2_Silent_p.L282L	p.L282L	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN			11	1085	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	282			Mitochondrial intermembrane (Potential).		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Silent	SNP	ENST00000333942.6	37	c.846G>A	CCDS32612.1																																																																																				PASS	0.383	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		174	427	174	427	---	---	---	---
KRTAP1-1	81851	broad.mit.edu	37	17	39197393	39197393	+	Missense_Mutation	SNP	T	T	C	rs201732142		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr17:39197393T>C	ENST00000306271.4	-	1	320	c.257A>G	c.(256-258)tAc>tGc	p.Y86C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	86			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.			keratin filament (GO:0045095)		p.Y86C(4)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGTAGCAGCTTGG	0.587																																						uc002hvw.1																			4	Substitution - Missense(4)		lung(2)|kidney(1)|endometrium(1)		0						c.(256-258)TAC>TGC		keratin associated protein 1-1							47.0	51.0	49.0					17																	39197393		2010	4190	6200	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197393T>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.257A>G	17.37:g.39197393T>C	ENSP00000305975:p.Tyr86Cys						p.Y86C	NM_030967	NP_112229	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	321	-		Breast(137;0.000496)	86		Missing (in allele KAP1.7).			A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.257A>G	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	0.037	-1.304092	0.01353	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.27557	1.66	4.0	-7.99	0.01131	.	.	.	.	.	T	0.01940	0.0061	N	0.00002	-3.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42361	-0.9456	9	0.02654	T	1	.	3.8365	0.08896	0.3382:0.2456:0.3404:0.0759	.	86	Q07627	KRA11_HUMAN	C	86;76	ENSP00000305975:Y86C	ENSP00000305975:Y86C	Y	-	2	0	KRTAP1-1	36450919	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	-0.958000	0.03857	-1.490000	0.01842	-0.977000	0.02584	TAC		PASS	0.587	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		4	105	4	105	---	---	---	---
WNT9B	7484	broad.mit.edu	37	17	44950021	44950021	+	Silent	SNP	C	C	T	rs535771134		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr17:44950021C>T	ENST00000290015.2	+	2	269	c.216C>T	c.(214-216)ccC>ccT	p.P72P	WNT9B_ENST00000393461.2_Silent_p.P72P	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	72					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.P72P(1)|p.P78P(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGAGGGAGCCCGGCCTGGCTG	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		14146	0.0		0.001	False		,,,				2504	0.0					uc002ikw.1																			2	Substitution - coding silent(2)		lung(2)	lung(2)	2						c.(214-216)CCC>CCT		wingless-type MMTV integration site family,							26.0	31.0	30.0					17																	44950021		2199	4300	6499	SO:0001819	synonymous_variant	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44950021C>T	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.216C>T	17.37:g.44950021C>T						WNT9B_uc002ikx.1_Silent_p.P72P	p.P72P	NM_003396	NP_003387	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	253	+			72					Q6UXT4|Q96Q09	Silent	SNP	ENST00000290015.2	37	c.216C>T	CCDS11506.1																																																																																				PASS	0.682	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		25	35	25	35	---	---	---	---
CDK5RAP3	80279	broad.mit.edu	37	17	46058079	46058079	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr17:46058079A>T	ENST00000338399.4	+	12	1304	c.1198A>T	c.(1198-1200)Acc>Tcc	p.T400S	RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.T425S	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	400					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.T400S(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GAAGATGGTTACCATGGTGTC	0.547																																						uc002imr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1198-1200)ACC>TCC		CDK5 regulatory subunit associated protein 3							161.0	162.0	162.0					17																	46058079		2076	4205	6281	SO:0001583	missense	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46058079A>T	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.1198A>T	17.37:g.46058079A>T	ENSP00000344683:p.Thr400Ser					CDK5RAP3_uc010wlc.1_Missense_Mutation_p.T420S|CDK5RAP3_uc002imq.1_Missense_Mutation_p.T175S|CDK5RAP3_uc002imu.2_Missense_Mutation_p.T244S|CDK5RAP3_uc002ims.2_Missense_Mutation_p.T313S|CDK5RAP3_uc002imv.2_Missense_Mutation_p.T244S|CDK5RAP3_uc002imw.2_Missense_Mutation_p.T242S|CDK5RAP3_uc002imx.2_Missense_Mutation_p.T175S	p.T400S	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN			12	1282	+			400					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	c.1198A>T	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	A	5.300	0.240751	0.10077	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.41400	1.0;1.0	5.48	-2.87	0.05700	.	0.382851	0.28182	N	0.016281	T	0.13628	0.0330	N	0.04508	-0.205	0.09310	N	0.999997	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.23691	-1.0181	10	0.12430	T	0.62	-31.5928	5.4081	0.16332	0.2124:0.0:0.4841:0.3035	.	425;313;400;175	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	425;400	ENSP00000438886:T425S;ENSP00000344683:T400S	ENSP00000344683:T400S	T	+	1	0	CDK5RAP3	43413078	0.000000	0.05858	0.019000	0.16419	0.749000	0.42624	0.071000	0.14594	-0.492000	0.06687	-0.274000	0.10170	ACC		PASS	0.547	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		57	101	57	101	---	---	---	---
YPEL2	388403	broad.mit.edu	37	17	57474474	57474474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr17:57474474G>T	ENST00000312655.4	+	5	601	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	YPEL2_ENST00000581865.1_3'UTR|YPEL2_ENST00000585166.1_Nonsense_Mutation_p.E95*	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	95						nucleus (GO:0005634)		p.E95*(1)		endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACATGCTTTTGAAAGCAGCCA	0.393																																					Melanoma(86;1113 1364 8518 42220 42625)	uc002ixm.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(283-285)GAA>TAA		yippee-like 2							89.0	76.0	80.0					17																	57474474		2203	4300	6503	SO:0001587	stop_gained	388403					nucleolus		g.chr17:57474474G>T	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.283G>T	17.37:g.57474474G>T	ENSP00000312272:p.Glu95*						p.E95*	NM_001005404	NP_001005404	Q96QA6	YPEL2_HUMAN			5	611	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		95					A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Nonsense_Mutation	SNP	ENST00000312655.4	37	c.283G>T	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	36	5.956244	0.97145	.	.	ENSG00000175155	ENST00000312655	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.7518	19.0544	0.93058	0.0:0.0:1.0:0.0	.	.	.	.	X	95	.	ENSP00000312272:E95X	E	+	1	0	YPEL2	54829256	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	GAA		PASS	0.393	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070		16	38	16	38	---	---	---	---
PIEZO2	63895	broad.mit.edu	37	18	10675263	10675263	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr18:10675263A>C	ENST00000503781.3	-	50	7764	c.7765T>G	c.(7765-7767)Tat>Gat	p.Y2589D	PIEZO2_ENST00000302079.6_Missense_Mutation_p.Y2526D|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.Y381D|PIEZO2_ENST00000538948.1_Missense_Mutation_p.Y546D|PIEZO2_ENST00000580640.1_Missense_Mutation_p.Y2614D	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2589					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.Y381D(1)|p.Y2589D(1)									TTCACATAATATGGATAAATC	0.274																																						uc002kor.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1636-1638)TAT>GAT		family with sequence similarity 38, member B							60.0	65.0	63.0					18																	10675263		2200	4296	6496	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10675263A>C	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7765T>G	18.37:g.10675263A>C	ENSP00000421377:p.Tyr2589Asp					FAM38B_uc002koq.2_Missense_Mutation_p.Y381D	p.Y546D	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			12	1776	-			2589					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.1636T>G		.	.	.	.	.	.	.	.	.	.	A	12.14	1.848940	0.32699	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.70986	-0.53;-0.53	5.42	5.42	0.78866	.	0.164198	0.43919	D	0.000508	T	0.55465	0.1922	L	0.40543	1.245	0.28371	N	0.919986	P	0.44344	0.833	B	0.36608	0.229	T	0.52909	-0.8512	10	0.13108	T	0.6	.	10.9025	0.47059	0.9264:0.0:0.0735:0.0	.	483	D6RFZ0	.	D	483;2589;546;381	ENSP00000443129:Y546D;ENSP00000285141:Y381D	ENSP00000285141:Y381D	Y	-	1	0	FAM38B	10665263	0.990000	0.36364	0.992000	0.48379	0.981000	0.71138	2.824000	0.48088	2.182000	0.69389	0.533000	0.62120	TAT		PASS	0.274	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		57	67	57	67	---	---	---	---
DSG3	1830	broad.mit.edu	37	18	29055928	29055928	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr18:29055928C>T	ENST00000257189.4	+	16	2788	c.2705C>T	c.(2704-2706)tCa>tTa	p.S902L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	902					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S902L(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGACTTTGTCAGGAAGTCAA	0.502																																						uc002kws.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2704-2706)TCA>TTA		desmoglein 3 preproprotein							124.0	121.0	122.0					18																	29055928		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29055928C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2705C>T	18.37:g.29055928C>T	ENSP00000257189:p.Ser902Leu					DSG3_uc002kwt.2_Missense_Mutation_p.S184L	p.S902L	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2814	+			902			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2705C>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769115	0.49680	.	.	ENSG00000134757	ENST00000257189	T	0.59364	0.27	5.54	1.04	0.20106	.	1.583020	0.03932	N	0.285396	T	0.44993	0.1320	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.23868	-1.0176	10	0.40728	T	0.16	.	2.1699	0.03846	0.2005:0.4442:0.1961:0.1592	.	902	P32926	DSG3_HUMAN	L	902	ENSP00000257189:S902L	ENSP00000257189:S902L	S	+	2	0	DSG3	27309926	0.000000	0.05858	0.005000	0.12908	0.563000	0.35712	-0.274000	0.08537	0.317000	0.23160	0.655000	0.94253	TCA		PASS	0.502	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		88	89	88	89	---	---	---	---
TCEB3C	162699	broad.mit.edu	37	18	44555161	44555161	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr18:44555161G>T	ENST00000330682.2	-	1	1288	c.1053C>A	c.(1051-1053)gcC>gcA	p.A351A	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	351	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A351A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGTCGCCGAGGGCGTCCGGAT	0.647																																						uc010xdb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1051-1053)GCC>GCA		transcription elongation factor B polypeptide							90.0	88.0	88.0					18																	44555161		1692	3395	5087	SO:0001819	synonymous_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555161G>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1053C>A	18.37:g.44555161G>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.A351A	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1289	-			351			Activation domain (By similarity).			Silent	SNP	ENST00000330682.2	37	c.1053C>A	CCDS11931.1																																																																																				PASS	0.647	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		33	384	33	384	---	---	---	---
ST8SIA3	51046	broad.mit.edu	37	18	55027478	55027478	+	Silent	SNP	C	C	G	rs373188316		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr18:55027478C>G	ENST00000324000.3	+	4	3147	c.1113C>G	c.(1111-1113)ctC>ctG	p.L371L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	371					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.L371L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GGGAAGGGCTCACCAAGCTGA	0.478																																						uc002lgn.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(1111-1113)CTC>CTG		ST8 alpha-N-acetyl-neuraminide							53.0	46.0	48.0					18																	55027478		2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55027478C>G	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.1113C>G	18.37:g.55027478C>G							p.L371L	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	4	1470	+			371			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.1113C>G	CCDS32834.1																																																																																				PASS	0.478	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		20	11	20	11	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63492067	63492067	+	Splice_Site	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr18:63492067G>T	ENST00000397968.2	+	6	1407	c.981G>T	c.(979-981)aaG>aaT	p.K327N	CDH7_ENST00000536984.2_Splice_Site_p.K327N|CDH7_ENST00000323011.3_Splice_Site_p.K327N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	327	Cadherin 3. {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.K327N(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTATACAGAAGGTAATGTTTT	0.368																																						uc002ljz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(979-981)AAG>AAT		cadherin 7, type 2 preproprotein							83.0	82.0	82.0					18																	63492067		2203	4300	6503	SO:0001630	splice_region_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63492067G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.981+1G>T	18.37:g.63492067G>T						CDH7_uc002lka.2_Missense_Mutation_p.K327N|CDH7_uc002lkb.2_Missense_Mutation_p.K327N	p.K327N	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			6	1306	+		Esophageal squamous(42;0.129)	327			Extracellular (Potential).|Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.981G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257700	0.80246	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.57107	0.42;0.42;0.42	4.65	4.65	0.58169	Cadherin (5);Cadherin-like (1);	0.189163	0.42964	D	0.000634	T	0.54598	0.1868	M	0.85299	2.745	0.80722	D	1	P;P	0.46656	0.882;0.852	B;B	0.38194	0.267;0.235	T	0.66436	-0.5924	10	0.87932	D	0	.	11.427	0.50015	0.0835:0.0:0.9165:0.0	.	327;327	F5H5X9;Q9ULB5	.;CADH7_HUMAN	N	327	ENSP00000319166:K327N;ENSP00000443030:K327N;ENSP00000381058:K327N	ENSP00000319166:K327N	K	+	3	2	CDH7	61643047	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.479000	0.81095	2.291000	0.77112	0.637000	0.83480	AAG		PASS	0.368	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	Missense_Mutation	5	49	5	49	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74563747	74563747	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr18:74563747A>T	ENST00000253159.8	+	3	407	c.209A>T	c.(208-210)cAg>cTg	p.Q70L	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Missense_Mutation_p.Q72L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	70					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q70L(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGATGTGACCAGTGCCCCCAA	0.398																																						uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(208-210)CAG>CTG		zinc finger protein 236							91.0	87.0	88.0					18																	74563747		1876	4103	5979	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74563747A>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.209A>T	18.37:g.74563747A>T	ENSP00000253159:p.Gln70Leu					ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.Q70L	p.Q70L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	3	407	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	70			C2H2-type 2.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.209A>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416556	0.83449	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.15139	2.45;2.45	5.59	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.143685	0.47852	D	0.000203	T	0.20333	0.0489	N	0.11673	0.155	0.53688	D	0.999971	D;B	0.58970	0.984;0.238	D;B	0.63113	0.911;0.085	T	0.08452	-1.0721	10	0.87932	D	0	.	11.6706	0.51399	0.867:0.0:0.0:0.133	.	70;70	Q9NWI2;Q9UL36	.;ZN236_HUMAN	L	70	ENSP00000253159:Q70L;ENSP00000444524:Q70L	ENSP00000253159:Q70L	Q	+	2	0	ZNF236	72692735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.022000	0.76431	0.895000	0.36342	0.477000	0.44152	CAG		PASS	0.398	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			29	13	29	13	---	---	---	---
MAP2K2	5605	broad.mit.edu	37	19	4099222	4099222	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:4099222C>A	ENST00000262948.5	-	7	1149	c.896G>T	c.(895-897)aGg>aTg	p.R299M	MAP2K2_ENST00000599345.1_5'Flank|MAP2K2_ENST00000394867.4_Missense_Mutation_p.R202M	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	299	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)	p.R299M(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	CCCGGGGGGCCTCGGCCGAGG	0.711																																						uc002lzk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(895-897)AGG>ATG		mitogen-activated protein kinase kinase 2							11.0	13.0	12.0					19																	4099222		2185	4276	6461	SO:0001583	missense	5605	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4099222C>A	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.896G>T	19.37:g.4099222C>A	ENSP00000262948:p.Arg299Met					MAP2K2_uc002lzj.2_Missense_Mutation_p.R109M	p.R299M	NM_030662	NP_109587	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1150	-		Hepatocellular(1079;0.137)	299			Protein kinase.|Pro-rich.			Missense_Mutation	SNP	ENST00000262948.5	37	c.896G>T	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.141882	0.77775	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	D;D	0.92446	-3.04;-3.04	4.44	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.129628	0.53938	D	0.000049	D	0.93054	0.7789	L	0.54323	1.7	0.50313	D	0.999866	B	0.26483	0.15	P	0.44732	0.459	D	0.92168	0.5741	10	0.49607	T	0.09	-8.7246	15.0001	0.71464	0.0:1.0:0.0:0.0	.	299	P36507	MP2K2_HUMAN	M	299;202	ENSP00000262948:R299M;ENSP00000378336:R202M	ENSP00000262948:R299M	R	-	2	0	MAP2K2	4050222	0.374000	0.25081	0.077000	0.20336	0.736000	0.42039	4.936000	0.63506	2.204000	0.70986	0.478000	0.44815	AGG		PASS	0.711	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			4	14	4	14	---	---	---	---
FUT5	2527	broad.mit.edu	37	19	5867384	5867384	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:5867384G>T	ENST00000588525.1	-	2	440	c.353C>A	c.(352-354)gCg>gAg	p.A118E	FUT5_ENST00000252675.5_Missense_Mutation_p.A118E	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	118					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.A118E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CACGATGACCGCGTCTGCCTG	0.642																																						uc002mdo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)GCG>GAG		fucosyltransferase 5							71.0	65.0	67.0					19																	5867384		2203	4300	6503	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867384G>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.353C>A	19.37:g.5867384G>T	ENSP00000466880:p.Ala118Glu					FUT5_uc010duo.2_Missense_Mutation_p.A118E	p.A118E	NM_002034	NP_002025	Q11128	FUT5_HUMAN			2	441	-			118			Lumenal (Potential).		A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.353C>A	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280914	0.40394	.	.	ENSG00000130383	ENST00000252675	T	0.34072	1.38	2.09	-0.448	0.12230	.	0.100891	0.41605	U	0.000841	T	0.63885	0.2549	H	0.96576	3.845	0.29040	N	0.885134	D	0.65815	0.995	D	0.74348	0.983	T	0.58171	-0.7683	10	0.87932	D	0	.	4.4443	0.11589	0.1565:0.233:0.6105:0.0	.	118	Q11128	FUT5_HUMAN	E	118	ENSP00000252675:A118E	ENSP00000252675:A118E	A	-	2	0	FUT5	5818384	0.195000	0.23338	0.008000	0.14137	0.003000	0.03518	0.625000	0.24477	-0.190000	0.10465	-0.693000	0.03709	GCG		PASS	0.642	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		21	49	21	49	---	---	---	---
OR7G2	390882	broad.mit.edu	37	19	9213062	9213062	+	Missense_Mutation	SNP	G	G	T	rs531257979		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:9213062G>T	ENST00000305456.2	-	1	920	c.921C>A	c.(919-921)aaC>aaA	p.N307K		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N307K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGATAAAGGGGTTCACCATTT	0.458													-|||	1	0.000199681	0.0	0.0	5008	,	,		20282	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(919-921)AAC>AAA		olfactory receptor, family 7, subfamily G,							121.0	107.0	112.0					19																	9213062		2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213062G>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.921C>A	19.37:g.9213062G>T	ENSP00000303822:p.Asn307Lys						p.N307K	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	921	-			286			Helical; Name=7; (Potential).		Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.921C>A	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	g	10.94	1.493845	0.26774	.	.	ENSG00000170923	ENST00000305456	T	0.59364	0.27	3.14	0.999	0.19862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	U	0.001066	T	0.54743	0.1877	M	0.69463	2.115	0.33760	D	0.621765	P	0.35959	0.53	B	0.40565	0.333	T	0.65076	-0.6256	10	0.87932	D	0	.	8.1357	0.31054	0.213:0.0:0.787:0.0	.	286	Q8NG99	OR7G2_HUMAN	K	307	ENSP00000303822:N307K	ENSP00000303822:N307K	N	-	3	2	OR7G2	9074062	1.000000	0.71417	0.998000	0.56505	0.011000	0.07611	0.734000	0.26101	0.393000	0.25203	-0.424000	0.05967	AAC		PASS	0.458	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			35	63	35	63	---	---	---	---
ZNF440	126070	broad.mit.edu	37	19	11943166	11943166	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:11943166G>T	ENST00000304060.5	+	4	1339	c.1175G>T	c.(1174-1176)gGa>gTa	p.G392V		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	392					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.G392V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACTCACACTGGAGAGAAACCC	0.453																																						uc002msp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1174-1176)GGA>GTA		zinc finger protein 440							75.0	75.0	75.0					19																	11943166		2203	4300	6503	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943166G>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1175G>T	19.37:g.11943166G>T	ENSP00000305373:p.Gly392Val						p.G392V	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1331	+			392					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1175G>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	12.29	1.894147	0.33442	.	.	ENSG00000171295	ENST00000304060	T	0.23552	1.9	1.19	1.19	0.21007	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44973	0.1319	M	0.78049	2.395	0.45464	D	0.998437	D	0.89917	1.0	D	0.85130	0.997	T	0.43196	-0.9406	9	0.87932	D	0	.	5.5094	0.16872	0.2055:0.0:0.7945:0.0	.	392	Q8IYI8	ZN440_HUMAN	V	392	ENSP00000305373:G392V	ENSP00000305373:G392V	G	+	2	0	ZNF440	11804166	0.018000	0.18449	0.188000	0.23233	0.089000	0.18198	0.926000	0.28804	0.972000	0.38314	0.205000	0.17691	GGA		PASS	0.453	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		26	61	26	61	---	---	---	---
JUNB	3726	broad.mit.edu	37	19	12903533	12903533	+	Silent	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:12903533C>G	ENST00000302754.4	+	1	1224	c.948C>G	c.(946-948)ctC>ctG	p.L316L		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	316	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L316L(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CCGCCGGCCTCCTCCGGGAGC	0.647																																						uc002mvc.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(946-948)CTC>CTG		jun B proto-oncogene							25.0	25.0	25.0					19																	12903533		2200	4300	6500	SO:0001819	synonymous_variant	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903533C>G	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.948C>G	19.37:g.12903533C>G						JUNB_uc002mvb.2_RNA	p.L316L	NM_002229	NP_002220	P17275	JUNB_HUMAN			1	1224	+			316			Leucine-zipper.		Q96GH3	Silent	SNP	ENST00000302754.4	37	c.948C>G	CCDS12280.1																																																																																				PASS	0.647	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		6	8	6	8	---	---	---	---
FAM129C	199786	broad.mit.edu	37	19	17651385	17651385	+	Silent	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:17651385C>A	ENST00000335393.4	+	10	1395	c.1257C>A	c.(1255-1257)cgC>cgA	p.R419R	FAM129C_ENST00000600871.1_Silent_p.R365R|FAM129C_ENST00000599124.1_Silent_p.R388R|FAM129C_ENST00000599164.1_Silent_p.R388R|FAM129C_ENST00000352727.3_Silent_p.R419R|FAM129C_ENST00000449408.2_Silent_p.R145R|FAM129C_ENST00000332386.5_Silent_p.R419R|FAM129C_ENST00000300971.2_Silent_p.R419R|FAM129C_ENST00000595684.1_Silent_p.R419R|FAM129C_ENST00000601861.1_Silent_p.R388R	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	419								p.R419R(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CGCGGCTGCGCAGGGAGGTGA	0.622																																						uc010xpr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1255-1257)CGC>CGA		B-cell novel protein 1 isoform a							8.0	9.0	9.0					19																	17651385		2162	4248	6410	SO:0001819	synonymous_variant	199786							g.chr19:17651385C>A	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1257C>A	19.37:g.17651385C>A						FAM129C_uc010xpq.1_Silent_p.R419R|FAM129C_uc002ngy.3_Silent_p.R145R|FAM129C_uc010xpu.1_Silent_p.R145R|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Silent_p.R145R|FAM129C_uc002nhb.2_Silent_p.R18R	p.R419R	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			10	1395	+			419					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	ENST00000335393.4	37	c.1257C>A	CCDS12362.1																																																																																				PASS	0.622	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		3	10	3	10	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155386	22155386	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:22155386A>G	ENST00000397126.4	-	4	2598	c.2450T>C	c.(2449-2451)gTc>gCc	p.V817A	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	817					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.V717A(2)|p.V817A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGGGTTGAGACCTTACTAAA	0.358																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2149-2151)GTC>GCC		zinc finger protein 208							60.0	69.0	66.0					19																	22155386		2096	4247	6343	SO:0001583	missense	7757							g.chr19:22155386A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2450T>C	19.37:g.22155386A>G	ENSP00000380315:p.Val817Ala					ZNF208_uc002nqo.1_Intron	p.V717A	NM_007153	NP_009084					5	2299	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2150T>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.280	-0.987234	0.02180	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.37235	1.21	2.57	-5.14	0.02875	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11281	0.0275	.	.	.	0.09310	N	1	B	0.28900	0.227	B	0.24394	0.053	T	0.25082	-1.0142	8	0.07813	T	0.8	.	1.1213	0.01725	0.167:0.2111:0.1538:0.4682	.	717	O43345	ZN208_HUMAN	A	817;717	ENSP00000380315:V817A	ENSP00000380315:V817A	V	-	2	0	ZNF208	21947226	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-5.693000	0.00104	-2.141000	0.00805	0.232000	0.17820	GTC		PASS	0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		25	41	25	41	---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22256279	22256279	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:22256279G>T	ENST00000594947.1	+	3	283	c.139G>T	c.(139-141)Gtc>Ttc	p.V47F	ZNF257_ENST00000600162.1_Missense_Mutation_p.V47F	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	47	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)|zinc ion binding (GO:0008270)	p.V47F(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGTATTGCTGTCTCTAAGCC	0.393																																						uc010ecx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)GTC>TTC		zinc finger protein 257							123.0	137.0	132.0					19																	22256279		2203	4300	6503	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22256279G>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.139G>T	19.37:g.22256279G>T	ENSP00000470209:p.Val47Phe					ZNF257_uc010ecy.2_Missense_Mutation_p.V15F	p.V47F	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			3	308	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	47			KRAB.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.139G>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	8.634	0.894435	0.17613	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.86	0.86	0.19042	Krueppel-associated box (3);	.	.	.	.	T	0.34308	0.0893	L	0.55990	1.75	0.09310	N	0.999998	B	0.23937	0.094	B	0.25614	0.062	T	0.30995	-0.9959	8	0.44086	T	0.13	.	4.9378	0.13950	0.0:0.0:1.0:0.0	.	47	Q9Y2Q1	ZN257_HUMAN	F	47	.	ENSP00000380312:V47F	V	+	1	0	ZNF257	22048119	0.000000	0.05858	0.326000	0.25389	0.326000	0.28443	-0.050000	0.11904	0.300000	0.22699	0.306000	0.20318	GTC		PASS	0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			45	112	45	112	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363343	22363343	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:22363343G>T	ENST00000397121.2	-	3	1493	c.1176C>A	c.(1174-1176)ccC>ccA	p.P392P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	392					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.P392P(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)				CACATTTGTAGGGCTTCTCTT	0.408																																						uc002nqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1174-1176)CCC>CCA		zinc finger protein 676							77.0	82.0	81.0					19																	22363343		2139	4258	6397	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363343G>T	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.1176C>A	19.37:g.22363343G>T							p.P392P	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1494	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	392					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.1176C>A	CCDS42539.1																																																																																				PASS	0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		28	59	28	59	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039660	31039660	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:31039660C>T	ENST00000355537.3	+	4	3281	c.3134C>T	c.(3133-3135)gCc>gTc	p.A1045V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1045					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.A1045V(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)					AAAGACCAAGCCCGGGAGGCG	0.537																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3133-3135)GCC>GTC		zinc finger protein 536							82.0	75.0	77.0					19																	31039660		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039660C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3134C>T	19.37:g.31039660C>T	ENSP00000347730:p.Ala1045Val					ZNF536_uc010edd.1_Missense_Mutation_p.A1045V	p.A1045V	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3272	+	Esophageal squamous(110;0.0834)		1045					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3134C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	0.347	-0.946977	0.02304	.	.	ENSG00000198597	ENST00000355537	T	0.08008	3.14	5.74	-1.5	0.08691	.	0.511747	0.18855	N	0.129297	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40590	-0.9555	10	0.27082	T	0.32	-4.8914	6.3732	0.21493	0.0:0.4163:0.349:0.2347	.	1045;1045	A7E228;O15090	.;ZN536_HUMAN	V	1045	ENSP00000347730:A1045V	ENSP00000347730:A1045V	A	+	2	0	ZNF536	35731500	0.000000	0.05858	0.039000	0.18376	0.590000	0.36582	-0.339000	0.07832	-0.394000	0.07727	-0.176000	0.13171	GCC		PASS	0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		17	62	17	62	---	---	---	---
GAPDHS	26330	broad.mit.edu	37	19	36035845	36035845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:36035845C>A	ENST00000222286.4	+	10	1207	c.1091C>A	c.(1090-1092)tCg>tAg	p.S364*	AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000222284.5_5'Flank|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392204.2_5'Flank|TMEM147_ENST00000392205.1_5'Flank|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	364					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)	p.S364*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GATACCCACTCGTCCATCTTC	0.537																																						uc002oaf.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1090-1092)TCG>TAG		glyceraldehyde-3-phosphate dehydrogenase,	NADH(DB00157)						132.0	119.0	123.0					19																	36035845		2203	4300	6503	SO:0001587	stop_gained	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36035845C>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.1091C>A	19.37:g.36035845C>A	ENSP00000222286:p.Ser364*					uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank	p.S364*	NM_014364	NP_055179	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		10	1207	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		364					B2RC82|O60823|Q6JTT9|Q9HCU6	Nonsense_Mutation	SNP	ENST00000222286.4	37	c.1091C>A	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823487	0.96989	.	.	ENSG00000105679	ENST00000222286	.	.	.	5.23	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7059	12.2822	0.54771	0.0:0.916:0.0:0.084	.	.	.	.	X	364	.	ENSP00000222286:S364X	S	+	2	0	GAPDHS	40727685	1.000000	0.71417	0.978000	0.43139	0.428000	0.31595	6.048000	0.71046	1.343000	0.45638	0.555000	0.69702	TCG		PASS	0.537	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		60	95	60	95	---	---	---	---
ZNF570	148268	broad.mit.edu	37	19	37975140	37975140	+	Missense_Mutation	SNP	A	A	T	rs139260465		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:37975140A>T	ENST00000330173.1	+	5	1145	c.616A>T	c.(616-618)Att>Ttt	p.I206F	ZNF570_ENST00000586475.1_Missense_Mutation_p.I262F|ZNF570_ENST00000388801.3_Missense_Mutation_p.I3F	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	206					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.I206F(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAATGGCTATTAAGCCCAA	0.358																																						uc002ogk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(616-618)ATT>TTT		zinc finger protein 570							108.0	127.0	121.0					19																	37975140		2190	4295	6485	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37975140A>T	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.616A>T	19.37:g.37975140A>T	ENSP00000331540:p.Ile206Phe					ZNF570_uc010efl.1_Missense_Mutation_p.I262F|ZNF570_uc010xtr.1_Missense_Mutation_p.I3F	p.I206F	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1145	+			206					A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.616A>T	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	A	6.040	0.375754	0.11409	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.05717	3.59;3.4	4.74	-1.45	0.08828	.	0.249386	0.20886	N	0.083907	T	0.03220	0.0094	L	0.43757	1.38	0.09310	N	1	P;B	0.40000	0.698;0.0	B;B	0.29440	0.102;0.0	T	0.37979	-0.9682	10	0.37606	T	0.19	.	0.3863	0.00403	0.4074:0.1429:0.1658:0.2839	.	3;206	B4DMP1;Q96NI8	.;ZN570_HUMAN	F	206;3	ENSP00000331540:I206F;ENSP00000373453:I3F	ENSP00000331540:I206F	I	+	1	0	ZNF570	42666980	0.000000	0.05858	0.011000	0.14972	0.393000	0.30537	-0.818000	0.04467	-0.496000	0.06650	0.460000	0.39030	ATT		PASS	0.358	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		76	174	76	174	---	---	---	---
B9D2	80776	broad.mit.edu	37	19	41858693	41858693	+	IGR	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:41858693T>C	ENST00000243578.3	-	0	1027				TGFB1_ENST00000221930.5_Missense_Mutation_p.D86G|TMEM91_ENST00000604123.1_5'Flank|TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2						cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)	p.D86G(1)		large_intestine(1)|ovary(1)	2						GGCCACCCGGTCGCGGGTGCT	0.706																																						uc002oqh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)GAC>GGC		transforming growth factor, beta 1 precursor	Hyaluronidase(DB00070)						17.0	18.0	18.0					19																	41858693		2202	4296	6498	SO:0001628	intergenic_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41858693T>C	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9			19.37:g.41858693T>C						CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Intron	p.D86G	NM_000660	NP_000651	P01137	TGFB1_HUMAN			1	1124	-			86						Missense_Mutation	SNP	ENST00000243578.3	37	c.257A>G	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478264	0.44044	.	.	ENSG00000105329	ENST00000221930	T	0.64803	-0.12	3.93	2.9	0.33743	Transforming growth factor-beta, N-terminal (1);	0.177565	0.48286	D	0.000182	T	0.58337	0.2115	M	0.68593	2.085	0.80722	D	1	B	0.25272	0.122	B	0.26864	0.074	T	0.57849	-0.7740	10	0.72032	D	0.01	-3.3133	9.5096	0.39069	0.0:0.0:0.1787:0.8213	.	86	P01137	TGFB1_HUMAN	G	86	ENSP00000221930:D86G	ENSP00000221930:D86G	D	-	2	0	TGFB1	46550533	1.000000	0.71417	0.998000	0.56505	0.116000	0.19942	4.752000	0.62176	0.550000	0.28991	0.460000	0.39030	GAC		PASS	0.706	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		9	16	9	16	---	---	---	---
ZNF526	116115	broad.mit.edu	37	19	42729069	42729069	+	Missense_Mutation	SNP	C	C	T	rs143231579		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:42729069C>T	ENST00000301215.3	+	3	739	c.514C>T	c.(514-516)Cca>Tca	p.P172S		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P172S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				AGCTGAGCCACCAGTGCCACC	0.607																																						uc002osz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)CCA>TCA		zinc finger protein 526							102.0	92.0	95.0					19																	42729069		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42729069C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.514C>T	19.37:g.42729069C>T	ENSP00000301215:p.Pro172Ser						p.P172S	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	670	+		Prostate(69;0.0704)	172					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.514C>T	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	C	7.223	0.597844	0.13875	.	.	ENSG00000167625	ENST00000301215	T	0.09255	3.0	4.34	0.807	0.18714	.	0.888324	0.09458	N	0.799514	T	0.08582	0.0213	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39057	-0.9632	9	.	.	.	-3.1712	4.2511	0.10695	0.0:0.4261:0.2762:0.2976	.	172	Q8TF50	ZN526_HUMAN	S	172	ENSP00000301215:P172S	.	P	+	1	0	ZNF526	47420909	0.995000	0.38212	0.001000	0.08648	0.691000	0.40173	0.878000	0.28126	0.584000	0.29591	0.563000	0.77884	CCA		PASS	0.607	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		44	73	44	73	---	---	---	---
SMG9	56006	broad.mit.edu	37	19	44254859	44254859	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:44254859T>C	ENST00000270066.6	-	2	377	c.35A>G	c.(34-36)tAt>tGt	p.Y12C	SMG9_ENST00000601170.1_Missense_Mutation_p.Y12C	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	12					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)	p.Y12C(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						CTCTATCCCATAGAGTCCAGG	0.567																																						uc002oxj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)TAT>TGT		SMG9 protein							91.0	92.0	92.0					19																	44254859		1931	4112	6043	SO:0001583	missense	56006				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	g.chr19:44254859T>C	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.35A>G	19.37:g.44254859T>C	ENSP00000270066:p.Tyr12Cys					C19orf61_uc002oxk.2_Missense_Mutation_p.Y12C|C19orf61_uc010eiy.1_Missense_Mutation_p.Y12C	p.Y12C	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN			2	378	-		Prostate(69;0.0352)	12					O60429|Q9H9A9	Missense_Mutation	SNP	ENST00000270066.6	37	c.35A>G	CCDS33043.2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123106	0.77436	.	.	ENSG00000105771	ENST00000270066	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	T	0.53594	0.1806	N	0.24115	0.695	0.47245	D	0.999363	D;D	0.65815	0.995;0.992	P;P	0.60415	0.874;0.751	T	0.58696	-0.7591	8	0.87932	D	0	-0.1695	10.1303	0.42674	0.0:0.0:0.1678:0.8321	.	12;12	Q9H0W8-2;Q9H0W8	.;SMG9_HUMAN	C	12	.	ENSP00000270066:Y12C	Y	-	2	0	SMG9	48946699	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	4.831000	0.62752	2.200000	0.70718	0.459000	0.35465	TAT		PASS	0.567	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108		43	103	43	103	---	---	---	---
PPP1R13L	10848	broad.mit.edu	37	19	45889145	45889145	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:45889145T>A	ENST00000418234.2	-	10	2096	c.2018A>T	c.(2017-2019)tAc>tTc	p.Y673F	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.Y673F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	673					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Y673F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACGATAGAGTAGTTGGCGCC	0.657																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2017-2019)TAC>TTC		protein phosphatase 1, regulatory subunit 13							58.0	59.0	59.0					19																	45889145		2202	4300	6502	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45889145T>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2018A>T	19.37:g.45889145T>A	ENSP00000403902:p.Tyr673Phe					PPP1R13L_uc002pbm.2_Missense_Mutation_p.Y252F|PPP1R13L_uc002pbo.2_Missense_Mutation_p.Y673F	p.Y673F	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	10	2095	-		all_neural(266;0.224)|Ovarian(192;0.231)	673			ANK 1.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.2018A>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.940988	0.34283	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.63255	-0.03;-0.03	4.73	4.73	0.59995	Src homology-3 domain (1);Ankyrin repeat-containing domain (4);	0.064498	0.64402	D	0.000005	T	0.50752	0.1634	L	0.31294	0.92	0.47037	D	0.999295	B;B	0.29766	0.256;0.034	B;B	0.37144	0.242;0.004	T	0.42548	-0.9445	10	0.12766	T	0.61	.	12.1995	0.54317	0.0:0.0:0.0:1.0	.	673;252	Q8WUF5;A7YME7	IASPP_HUMAN;.	F	673;673;247	ENSP00000403902:Y673F;ENSP00000354218:Y673F	ENSP00000221478:Y247F	Y	-	2	0	PPP1R13L	50580985	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	2.751000	0.47508	1.987000	0.57996	0.459000	0.35465	TAC		PASS	0.657	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		8	17	8	17	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50103085	50103085	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:50103085G>T	ENST00000418929.2	+	5	4247	c.4235G>T	c.(4234-4236)gGg>gTg	p.G1412V		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)	p.G592V(1)|p.G1412V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCCTTGCTGGGCCAAAAGAC	0.642																																						uc002poo.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(4234-4236)GGG>GTG		proline rich 12							65.0	72.0	70.0					19																	50103085		2032	4192	6224	SO:0001583	missense	57479						DNA binding	g.chr19:50103085G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4235G>T	19.37:g.50103085G>T	ENSP00000394510:p.Gly1412Val						p.G1412V	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	5	4235	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	591			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.4235G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059196	0.19987	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	5.09	3.98	0.46160	.	0.000000	0.41938	D	0.000793	T	0.54919	0.1888	N	0.22421	0.69	0.45272	D	0.99827	D	0.89917	1.0	D	0.87578	0.998	T	0.49283	-0.8956	9	0.31617	T	0.26	-31.1242	11.0132	0.47675	0.0:0.1887:0.8113:0.0	.	1412	Q9ULL5-3	.	V	1412;592;592	.	ENSP00000246798:G592V	G	+	2	0	PRR12	54794897	0.997000	0.39634	0.972000	0.41901	0.685000	0.39939	0.931000	0.28871	2.542000	0.85734	0.563000	0.77884	GGG		PASS	0.642	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		44	89	44	89	---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52723050	52723050	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:52723050C>A	ENST00000322088.6	+	10	1293	c.1235C>A	c.(1234-1236)gCt>gAt	p.A412D	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A233D|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A357D|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	412	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.A412D(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GTGGAGCTGGCTGAGGACGCC	0.622			Mis		clear cell ovarian carcinoma																																	uc002pyp.2				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		1	Substitution - Missense(1)		lung(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1234-1236)GCT>GAT		alpha isoform of regulatory subunit A, protein							67.0	60.0	62.0					19																	52723050		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52723050C>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1235C>A	19.37:g.52723050C>A	ENSP00000324804:p.Ala412Asp					PPP2R1A_uc010ydk.1_Missense_Mutation_p.A357D|PPP2R1A_uc002pyq.2_Missense_Mutation_p.A233D	p.A412D	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	10	1394	+			412			HEAT 11.|PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1235C>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983865	0.93044	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.18810	2.19;2.19	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.58779	0.2146	H	0.95679	3.705	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.981;0.994	T	0.72151	-0.4377	10	0.87932	D	0	-17.5729	15.5205	0.75862	0.0:1.0:0.0:0.0	.	357;412	F5H3X9;P30153	.;2AAA_HUMAN	D	402;332;412;357	ENSP00000324804:A412D;ENSP00000415067:A357D	ENSP00000324804:A412D	A	+	2	0	PPP2R1A	57414862	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	6.880000	0.75578	2.605000	0.88082	0.655000	0.94253	GCT		PASS	0.622	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		7	71	7	71	---	---	---	---
KIR3DL2	3812	broad.mit.edu	37	19	55363737	55363737	+	Splice_Site	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:55363737G>T	ENST00000326321.3	+	3	388	c.355G>T	c.(355-357)Gga>Tga	p.G119*	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Splice_Site_p.G119*	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	119					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G119*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CATGGTCACAGGTCAGAGGCT	0.617																																						uc002qho.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(355-357)GGA>TGA		killer cell immunoglobulin-like receptor, three							48.0	42.0	44.0					19																	55363737		2134	4001	6135	SO:0001630	splice_region_variant	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55363737G>T	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.355+1G>T	19.37:g.55363737G>T						KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc002qhn.1_Intron|KIR3DL2_uc010esh.2_Nonsense_Mutation_p.G119*	p.G119*	NM_006737	NP_006728	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	388	+			119			Extracellular (Potential).		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Nonsense_Mutation	SNP	ENST00000326321.3	37	c.355G>T	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.894012	0.52121	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	.	.	.	1.62	1.62	0.23740	.	0.000000	0.29515	U	0.011940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.7241	0.23346	0.0:0.0:1.0:0.0	.	.	.	.	X	119	.	ENSP00000270442:G119X	G	+	1	0	KIR3DL2	60055549	0.992000	0.36948	0.363000	0.25875	0.059000	0.15707	2.415000	0.44635	1.221000	0.43506	0.184000	0.17185	GGA		PASS	0.617	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1		Nonsense_Mutation	24	63	24	63	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56410158	56410158	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:56410158G>A	ENST00000342929.3	-	10	2934	c.2935C>T	c.(2935-2937)Cat>Tat	p.H979Y	NLRP13_ENST00000588751.1_Missense_Mutation_p.H979Y	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	979							ATP binding (GO:0005524)	p.H979Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AATGCACGATGTGGTTTCAGA	0.468																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2935-2937)CAT>TAT		NACHT, leucine rich repeat and PYD containing							184.0	148.0	160.0					19																	56410158		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56410158G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2935C>T	19.37:g.56410158G>A	ENSP00000343891:p.His979Tyr						p.H979Y	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	10	2960	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	979					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2935C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	2.957	-0.215539	0.06101	.	.	ENSG00000173572	ENST00000342929	T	0.52754	0.65	2.94	-5.01	0.02991	.	.	.	.	.	T	0.27697	0.0681	L	0.33339	1.005	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19386	-1.0307	9	0.48119	T	0.1	.	1.6047	0.02681	0.1439:0.2877:0.3614:0.207	.	979	Q86W25	NAL13_HUMAN	Y	979	ENSP00000343891:H979Y	ENSP00000343891:H979Y	H	-	1	0	NLRP13	61101970	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.451000	0.06795	-1.289000	0.02375	-0.302000	0.09304	CAT		PASS	0.468	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		14	106	14	106	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640074	57640074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:57640074C>T	ENST00000254181.4	+	4	485	c.31C>T	c.(31-33)Caa>Taa	p.Q11*	USP29_ENST00000598197.1_Nonsense_Mutation_p.Q11*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	11					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.Q11*(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGATTCATCCAAATTTGGAG	0.343																																						uc002qny.2																			1	Substitution - Nonsense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(31-33)CAA>TAA		ubiquitin specific peptidase 29							44.0	45.0	45.0					19																	57640074		2203	4300	6503	SO:0001587	stop_gained	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640074C>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.31C>T	19.37:g.57640074C>T	ENSP00000254181:p.Gln11*						p.Q11*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	387	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	11						Nonsense_Mutation	SNP	ENST00000254181.4	37	c.31C>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597480	0.87055	.	.	ENSG00000131864	ENST00000254181	.	.	.	2.79	0.553	0.17235	.	0.899117	0.09028	U	0.859154	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.7322	3.3132	0.07024	0.255:0.6012:0.0:0.1438	.	.	.	.	X	11	.	ENSP00000254181:Q11X	Q	+	1	0	USP29	62331886	0.046000	0.20272	0.000000	0.03702	0.007000	0.05969	1.583000	0.36579	0.199000	0.20427	-0.293000	0.09583	CAA		PASS	0.343	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			15	34	15	34	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640084	57640084	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:57640084G>A	ENST00000254181.4	+	4	495	c.41G>A	c.(40-42)aGc>aAc	p.S14N	USP29_ENST00000598197.1_Missense_Mutation_p.S14N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	14					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S14N(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAATTTGGAGCCAGAAGACT	0.343																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(40-42)AGC>AAC		ubiquitin specific peptidase 29							45.0	45.0	45.0					19																	57640084		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640084G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.41G>A	19.37:g.57640084G>A	ENSP00000254181:p.Ser14Asn						p.S14N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	397	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	14						Missense_Mutation	SNP	ENST00000254181.4	37	c.41G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	2.890	-0.229953	0.06022	.	.	ENSG00000131864	ENST00000254181	T	0.59083	0.29	2.79	1.69	0.24217	.	0.723385	0.11530	N	0.554791	T	0.42359	0.1199	L	0.44542	1.39	0.09310	N	1	B	0.28900	0.227	B	0.27262	0.078	T	0.23476	-1.0187	10	0.18710	T	0.47	-1.1747	4.7121	0.12877	0.2021:0.0:0.7979:0.0	.	14	Q9HBJ7	UBP29_HUMAN	N	14	ENSP00000254181:S14N	ENSP00000254181:S14N	S	+	2	0	USP29	62331896	0.773000	0.28580	0.008000	0.14137	0.040000	0.13550	2.166000	0.42406	0.620000	0.30215	0.591000	0.81541	AGC		PASS	0.343	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			15	35	15	35	---	---	---	---
ZNF324B	388569	broad.mit.edu	37	19	58965615	58965615	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr19:58965615C>T	ENST00000336614.4	+	3	249	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000594214.1_Missense_Mutation_p.R48C|ZNF324B_ENST00000545523.1_Missense_Mutation_p.R48C	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	48	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.R48C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCCCGACCTCGTGTGGTCAT	0.602																																						uc002qsv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(142-144)CGT>TGT		zinc finger protein 324B							72.0	63.0	66.0					19																	58965615		2203	4300	6503	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58965615C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.142C>T	19.37:g.58965615C>T	ENSP00000337473:p.Arg48Cys					ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Missense_Mutation_p.R48C	p.R48C	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	249	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	48			KRAB.		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.142C>T	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427421	0.25726	.	.	ENSG00000249471	ENST00000336614;ENST00000545523	T;T	0.00832	5.64;5.64	3.3	2.15	0.27550	Krueppel-associated box (3);	0.640661	0.13043	N	0.418378	T	0.00754	0.0025	L	0.27053	0.805	0.18873	N	0.999986	D	0.56287	0.975	B	0.36666	0.23	T	0.58267	-0.7666	10	0.45353	T	0.12	.	7.8239	0.29303	0.0:0.7413:0.2587:0.0	.	48	Q6AW86	Z324B_HUMAN	C	48	ENSP00000337473:R48C;ENSP00000438930:R48C	ENSP00000337473:R48C	R	+	1	0	ZNF324B	63657427	0.000000	0.05858	0.034000	0.17996	0.123000	0.20343	0.255000	0.18333	1.844000	0.53588	0.591000	0.81541	CGT		PASS	0.602	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		4	57	4	57	---	---	---	---
KIZ	55857	broad.mit.edu	37	20	21224905	21224905	+	RNA	SNP	G	G	T	rs567404062		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:21224905G>T	ENST00000457464.1	+	0	1500																											AAAGAAACCCGTGATCAATTT	0.308																																						uc002wsb.2																			0					0						c.(1903-1905)GTG>TTG		polo-like kinase 1 substrate 1 isoform 1							71.0	66.0	68.0					20																	21224905		1799	4072	5871			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21224905G>T																													20.37:g.21224905G>T						PLK1S1_uc010zsh.1_Missense_Mutation_p.V532L|PLK1S1_uc010zsi.1_Missense_Mutation_p.V502L|PLK1S1_uc010zsj.1_RNA|PLK1S1_uc002wsd.2_RNA	p.V635L	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			13	2036	+			635						Missense_Mutation	SNP	ENST00000457464.1	37	c.1903G>T																																																																																					PASS	0.308	PLK1S1-003	KNOWN	not_organism_supported|sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000078262.2			20	61	20	61	---	---	---	---
POFUT1	23509	broad.mit.edu	37	20	30825602	30825602	+	3'UTR	SNP	A	A	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:30825602A>C	ENST00000375749.3	+	0	4367				MIR1825_ENST00000408740.1_RNA	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1						angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			caggcgagagactggggtgct	0.552																																						hsa-mir-1825|MI0008193																			0					0															72.0	76.0	75.0					20																	30825602		1568	3582	5150	SO:0001624	3_prime_UTR_variant	100302183							g.chr20:30825602A>C	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.*3138A>C	20.37:g.30825602A>C						POFUT1_uc002wxp.2_3'UTR|POFUT1_uc010ztt.1_3'UTR|POFUT1_uc010ztu.1_3'UTR										+								A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	RNA	SNP	ENST00000375749.3	37	c.5A>C	CCDS13198.1																																																																																				PASS	0.552	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		12	36	12	36	---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34242587	34242587	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:34242587C>A	ENST00000374114.3	-	3	921	c.658G>T	c.(658-660)Gtg>Ttg	p.V220L	CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.V220L|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.V220L|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	220	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V220L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ACAGGAGGCACAGGAGGCAAT	0.607																																						uc002xdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(658-660)GTG>TTG		RNA binding motif protein 12							114.0	88.0	97.0					20																	34242587		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242587C>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.658G>T	20.37:g.34242587C>A	ENSP00000363228:p.Val220Leu					CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.V220L|RBM12_uc002xds.2_Missense_Mutation_p.V220L	p.V220L	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	890	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		220			Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.658G>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083748	0.36758	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942;ENST00000424458	T;T;T;T	0.26810	2.36;2.36;2.36;1.71	5.23	4.27	0.50696	.	0.000000	0.64402	D	0.000005	T	0.18425	0.0442	L	0.27053	0.805	0.80722	D	1	B	0.28880	0.226	B	0.21360	0.034	T	0.05007	-1.0912	10	0.87932	D	0	-7.9056	13.0985	0.59206	0.0:0.9203:0.0:0.0797	.	220	Q9NTZ6	RBM12_HUMAN	L	220;220;220;19;220	ENSP00000363228:V220L;ENSP00000352668:V220L;ENSP00000363217:V220L;ENSP00000411036:V220L	ENSP00000339879:V19L	V	-	1	0	RBM12	33706001	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	7.045000	0.76585	1.372000	0.46190	0.555000	0.69702	GTG		PASS	0.607	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		28	68	28	68	---	---	---	---
CNBD2	140894	broad.mit.edu	37	20	34575396	34575396	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:34575396T>A	ENST00000373973.3	+	7	969	c.796T>A	c.(796-798)Tat>Aat	p.Y266N	CNBD2_ENST00000538900.1_Missense_Mutation_p.Y266N|CNBD2_ENST00000349339.1_Missense_Mutation_p.Y266N			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	266								p.Y266N(1)									GAGGTTCTCGTATGGGCAGCT	0.498																																						uc002xes.1																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)TAT>AAT		SubName: Full=C20orf152 protein;							104.0	88.0	93.0					20																	34575396		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34575396T>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.796T>A	20.37:g.34575396T>A	ENSP00000363084:p.Tyr266Asn					C20orf152_uc002xer.1_Missense_Mutation_p.Y266N|C20orf152_uc010gfp.1_Intron	p.Y266N			Q96M20	CT152_HUMAN			7	952	+	Breast(12;0.00631)		266					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.796T>A		.	.	.	.	.	.	.	.	.	.	T	12.16	1.854941	0.32791	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.41065	1.01;1.01;1.01	5.14	2.84	0.33178	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.523272	0.18578	N	0.137131	T	0.37919	0.1021	M	0.67953	2.075	0.09310	N	1	P;P	0.39862	0.565;0.692	B;B	0.39339	0.156;0.297	T	0.16512	-1.0400	10	0.30078	T	0.28	-5.4506	6.7217	0.23334	0.0:0.1857:0.0:0.8143	.	266;266	Q96M20;Q96M20-2	CT152_HUMAN;.	N	266	ENSP00000363084:Y266N;ENSP00000340954:Y266N;ENSP00000442729:Y266N	ENSP00000340954:Y266N	Y	+	1	0	C20orf152	34038810	0.517000	0.26226	0.001000	0.08648	0.287000	0.27160	1.025000	0.30090	0.412000	0.25729	0.533000	0.62120	TAT		PASS	0.498	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		26	44	26	44	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37145013	37145013	+	Splice_Site	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:37145013G>A	ENST00000262879.6	+	7	1335	c.1051G>A	c.(1051-1053)Ggt>Agt	p.G351S	RALGAPB_ENST00000397042.3_Splice_Site_p.G351S|RALGAPB_ENST00000397038.1_Splice_Site_p.G129S|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Splice_Site_p.G351S|RALGAPB_ENST00000537204.1_Splice_Site_p.G351S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	351					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.G351S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGCATTCTTAGGTGAATTTTG	0.398																																						uc002xiw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1051-1053)GGT>AGT		Ral GTPase activating protein, beta subunit							167.0	154.0	159.0					20																	37145013		2203	4300	6503	SO:0001630	splice_region_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37145013G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1051+1G>A	20.37:g.37145013G>A						RALGAPB_uc010zvz.1_Missense_Mutation_p.G351S|RALGAPB_uc002xix.2_Missense_Mutation_p.G351S|RALGAPB_uc002xiy.1_Missense_Mutation_p.G351S|RALGAPB_uc002xiz.2_Missense_Mutation_p.G129S|RALGAPB_uc002xja.1_Missense_Mutation_p.G78S	p.G351S	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			7	1308	+			351					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1051G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406368	0.96051	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.62	4.67	0.58626	.	0.046297	0.85682	N	0.000000	T	0.73729	0.3624	M	0.78456	2.415	0.80722	D	1	D;D;P;D;D	0.63046	0.992;0.972;0.799;0.972;0.972	P;P;P;P;P	0.55087	0.768;0.667;0.539;0.667;0.667	T	0.76302	-0.3009	9	0.44086	T	0.13	.	14.8511	0.70297	0.0692:0.0:0.9308:0.0	.	351;179;351;351;351	B4E2E8;A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;.;RLGPB_HUMAN	S	351;351;351;129;351;351;179	.	ENSP00000262879:G351S	G	+	1	0	RALGAPB	36578427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.567000	0.98161	1.514000	0.48869	0.467000	0.42956	GGT		PASS	0.398	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	Missense_Mutation	65	124	65	124	---	---	---	---
PABPC1L	80336	broad.mit.edu	37	20	43547656	43547656	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:43547656C>G	ENST00000217073.2	+	4	613	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E	PABPC1L_ENST00000537323.1_Missense_Mutation_p.Q205E|PABPC1L_ENST00000255136.3_Missense_Mutation_p.Q205E|PABPC1L_ENST00000217074.4_Missense_Mutation_p.Q205E			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	205	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q205E(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TGTGGACGAGCAAGGCCTGCA	0.612																																						uc010ggv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(613-615)CAA>GAA		poly(A)-binding protein, cytoplasmic 1-like							107.0	105.0	105.0					20																	43547656		1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43547656C>G	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.613C>G	20.37:g.43547656C>G	ENSP00000217073:p.Gln205Glu					PABPC1L_uc010zwq.1_RNA	p.Q205E	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			4	695	+			205			RRM 3.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.613C>G	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	C	0.966	-0.701851	0.03255	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.95	2.92	0.33932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.502895	0.23215	N	0.050640	T	0.49253	0.1546	N	0.00572	-1.36	0.24817	N	0.992609	B	0.06786	0.001	B	0.06405	0.002	T	0.53885	-0.8375	10	0.02654	T	1	.	3.8608	0.08994	0.2234:0.4292:0.2679:0.0795	.	205	Q4VXU2	PAP1L_HUMAN	E	205	ENSP00000217074:Q205E;ENSP00000255136:Q205E;ENSP00000445661:Q205E;ENSP00000217073:Q205E	ENSP00000217073:Q205E	Q	+	1	0	PABPC1L	42981070	0.999000	0.42202	0.883000	0.34634	0.723000	0.41478	2.206000	0.42779	1.302000	0.44855	0.563000	0.77884	CAA		PASS	0.612	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			51	120	51	120	---	---	---	---
CBLN4	140689	broad.mit.edu	37	20	54573762	54573762	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:54573762C>T	ENST00000064571.2	-	3	1757	c.457G>A	c.(457-459)Gac>Aac	p.D153N		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	153	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.D153N(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			ACATCTTTGTCCCCCGCAAAG	0.363																																						uc002xxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(457-459)GAC>AAC		cerebellin 4 precursor							86.0	80.0	82.0					20																	54573762		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54573762C>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.457G>A	20.37:g.54573762C>T	ENSP00000064571:p.Asp153Asn						p.D153N	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		3	1242	-			153			C1q.		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.457G>A	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987268	0.93106	.	.	ENSG00000054803	ENST00000064571	T	0.74632	-0.86	5.62	5.62	0.85841	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82096	-0.0626	10	0.44086	T	0.13	-28.9904	19.6506	0.95805	0.0:1.0:0.0:0.0	.	153	Q9NTU7	CBLN4_HUMAN	N	153	ENSP00000064571:D153N	ENSP00000064571:D153N	D	-	1	0	CBLN4	54007169	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.764000	0.85297	2.640000	0.89533	0.591000	0.81541	GAC		PASS	0.363	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		16	40	16	40	---	---	---	---
CBLN4	140689	broad.mit.edu	37	20	54573764	54573764	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:54573764C>T	ENST00000064571.2	-	3	1755	c.455G>A	c.(454-456)gGg>gAg	p.G152E		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	152	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.G152E(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			ATCTTTGTCCCCCGCAAAGGC	0.358																																						uc002xxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(454-456)GGG>GAG		cerebellin 4 precursor							84.0	79.0	81.0					20																	54573764		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54573764C>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.455G>A	20.37:g.54573764C>T	ENSP00000064571:p.Gly152Glu						p.G152E	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		3	1240	-			152			C1q.		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.455G>A	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683571	0.68157	.	.	ENSG00000054803	ENST00000064571	T	0.36878	1.23	5.62	5.62	0.85841	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.37361	-0.9709	10	0.32370	T	0.25	-19.39	19.6506	0.95805	0.0:1.0:0.0:0.0	.	152	Q9NTU7	CBLN4_HUMAN	E	152	ENSP00000064571:G152E	ENSP00000064571:G152E	G	-	2	0	CBLN4	54007171	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.764000	0.85297	2.640000	0.89533	0.591000	0.81541	GGG		PASS	0.358	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		16	41	16	41	---	---	---	---
C20orf85	128602	broad.mit.edu	37	20	56728607	56728607	+	Missense_Mutation	SNP	C	C	A	rs552853226	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:56728607C>A	ENST00000371168.3	+	2	137	c.76C>A	c.(76-78)Cgt>Agt	p.R26S		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	26			R -> H (in dbSNP:rs16984945).					p.R26S(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CAGGAAATACCGTCTGAAGGC	0.483																																						uc002xyv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)CGT>AGT		hypothetical protein LOC128602							100.0	103.0	102.0					20																	56728607		2203	4300	6503	SO:0001583	missense	128602							g.chr20:56728607C>A	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.76C>A	20.37:g.56728607C>A	ENSP00000360210:p.Arg26Ser						p.R26S	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		2	114	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		26						Missense_Mutation	SNP	ENST00000371168.3	37	c.76C>A	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604674	0.66445	.	.	ENSG00000124237	ENST00000371168	T	0.25250	1.81	5.82	5.82	0.92795	.	0.106722	0.46758	D	0.000272	T	0.38081	0.1027	L	0.46741	1.465	0.35074	D	0.762785	D	0.61697	0.99	P	0.58520	0.84	T	0.45026	-0.9289	10	0.48119	T	0.1	-10.1333	12.5441	0.56188	0.0:0.9217:0.0:0.0783	.	26	Q9H1P6	CT085_HUMAN	S	26	ENSP00000360210:R26S	ENSP00000360210:R26S	R	+	1	0	C20orf85	56162013	0.059000	0.20769	0.996000	0.52242	0.793000	0.44817	1.712000	0.37940	2.760000	0.94817	0.655000	0.94253	CGT		PASS	0.483	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		38	83	38	83	---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61948004	61948004	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:61948004T>C	ENST00000358894.6	+	21	2724	c.2624T>C	c.(2623-2625)tTc>tCc	p.F875S	COL20A1_ENST00000422202.1_Missense_Mutation_p.F882S|COL20A1_ENST00000326996.6_Missense_Mutation_p.F875S|COL20A1_ENST00000435874.1_Missense_Mutation_p.F882S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	875	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.F875S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACCCCGACCTTCACGCTCTTC	0.637																																						uc011aau.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2623-2625)TTC>TCC		collagen, type XX, alpha 1							25.0	28.0	27.0					20																	61948004		1990	4137	6127	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61948004T>C	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2624T>C	20.37:g.61948004T>C	ENSP00000351767:p.Phe875Ser					COL20A1_uc011aav.1_Missense_Mutation_p.F696S	p.F875S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			21	2724	+	all_cancers(38;1.39e-10)		875			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.2624T>C	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.969584	0.53614	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.02498	4.27;4.27;4.27;4.27	4.22	3.05	0.35203	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.313649	0.31301	N	0.007895	T	0.07369	0.0186	L	0.54323	1.7	0.34705	D	0.727097	D;D	0.64830	0.994;0.99	P;P	0.60117	0.869;0.743	T	0.15350	-1.0440	10	0.56958	D	0.05	.	6.0545	0.19804	0.3787:0.0:0.0:0.6213	.	882;875	Q9P218-2;Q9P218	.;COKA1_HUMAN	S	875;875;882;882	ENSP00000351767:F875S;ENSP00000323077:F875S;ENSP00000408690:F882S;ENSP00000414753:F882S	ENSP00000323077:F875S	F	+	2	0	COL20A1	61418449	1.000000	0.71417	0.988000	0.46212	0.473000	0.32948	1.661000	0.37408	1.566000	0.49654	0.241000	0.17934	TTC		PASS	0.637	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		3	9	3	9	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62192206	62192206	+	Missense_Mutation	SNP	C	C	A	rs549774081	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr20:62192206C>A	ENST00000467148.1	-	15	7292	c.7223G>T	c.(7222-7224)cGg>cTg	p.R2408L	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1839L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2408	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R2408L(1)									GAACAGAGACCGGTCCAGACC	0.632													C|||	11	0.00219649	0.0	0.0	5008	,	,		15954	0.0		0.0	False		,,,				2504	0.0112					uc002yfm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(7222-7224)CGG>CTG		PPAR-alpha interacting complex protein 285							98.0	109.0	105.0					20																	62192206		2203	4300	6503	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62192206C>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7223G>T	20.37:g.62192206C>A	ENSP00000417401:p.Arg2408Leu					PRIC285_uc002yfl.1_Missense_Mutation_p.R1839L	p.R2408L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		16	8115	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		2408					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.7223G>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718191	0.30503	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.81330	-1.48;-1.48	4.15	0.486	0.16836	ATPase, AAA+ type, core (1);	0.527792	0.18096	N	0.151849	T	0.78240	0.4252	L	0.55213	1.73	0.22112	N	0.999355	P;P	0.41450	0.75;0.706	P;B	0.49637	0.617;0.405	T	0.68221	-0.5466	10	0.62326	D	0.03	-25.6369	4.1334	0.10159	0.0:0.3:0.2643:0.4357	.	2408;1839	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	L	1839;2408	ENSP00000393257:R1839L;ENSP00000417401:R2408L	ENSP00000393257:R1839L	R	-	2	0	RP4-697K14.7	61662650	0.025000	0.19082	0.582000	0.28627	0.145000	0.21501	-0.091000	0.11146	0.240000	0.21263	-0.339000	0.08088	CGG		PASS	0.632	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		38	67	38	67	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33371496	33371496	+	Silent	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr21:33371496A>G	ENST00000270112.2	+	11	2504	c.2144A>G	c.(2143-2145)tAa>tGa	p.*715*		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	0					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.*715*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ACCCAGTGCTAACTTGGGCCA	0.602																																						uc002yph.2																			1	Substitution - coding silent(1)		lung(1)	stomach(1)|skin(1)	2						c.(2143-2145)TAA>TGA		hormonally upregulated Neu-associated kinase							54.0	58.0	57.0					21																	33371496		2197	4297	6494	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33371496A>G	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.2144A>G	21.37:g.33371496A>G							p.*715*	NM_014586	NP_055401	P57058	HUNK_HUMAN			11	2504	+			715						Silent	SNP	ENST00000270112.2	37	c.2144A>G	CCDS13610.1																																																																																				PASS	0.602	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		30	40	30	40	---	---	---	---
GAB4	128954	broad.mit.edu	37	22	17472932	17472932	+	Silent	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr22:17472932A>G	ENST00000400588.1	-	2	416	c.309T>C	c.(307-309)gaT>gaC	p.D103D	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	103	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.D103D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCACATCAACATCCAGCTGCT	0.488																																						uc002zlw.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(307-309)GAT>GAC		GRB2-associated binding protein family, member							225.0	237.0	233.0					22																	17472932		2197	4299	6496	SO:0001819	synonymous_variant	128954							g.chr22:17472932A>G	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.309T>C	22.37:g.17472932A>G						GAB4_uc010gqs.1_Silent_p.D103D	p.D103D	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			2	417	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	103			PH.			Silent	SNP	ENST00000400588.1	37	c.309T>C	CCDS42976.1																																																																																				PASS	0.488	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		21	338	21	338	---	---	---	---
LIF	3976	broad.mit.edu	37	22	30640024	30640024	+	Silent	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr22:30640024G>T	ENST00000249075.3	-	3	380	c.225C>A	c.(223-225)ccC>ccA	p.P75P	LIF_ENST00000403987.3_Missense_Mutation_p.Q16K|RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	75					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)	p.P75P(1)		breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			CCAGGTTGTTGGGGAACGGCT	0.642																																						uc003agz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(223-225)CCC>CCA		leukemia inhibitory factor (cholinergic							72.0	64.0	67.0					22																	30640024		2203	4300	6503	SO:0001819	synonymous_variant	3976				immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding	g.chr22:30640024G>T		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.225C>A	22.37:g.30640024G>T						LIF_uc011aks.1_Missense_Mutation_p.Q16K|uc003aha.2_5'Flank	p.P75P	NM_002309	NP_002300	P15018	LIF_HUMAN	Epithelial(10;0.171)		3	337	-			75					B2RCW7|B5MC23|Q52LZ2	Silent	SNP	ENST00000249075.3	37	c.225C>A	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997148	0.35226	.	.	ENSG00000128342	ENST00000403987	.	.	.	4.59	3.53	0.40419	.	.	.	.	.	T	0.35008	0.0917	.	.	.	0.20074	N	0.999935	P	0.36535	0.557	B	0.34242	0.178	T	0.32348	-0.9910	7	0.87932	D	0	-9.5641	12.4735	0.55799	0.0:0.2181:0.7819:0.0	.	16	B5MC23	.	K	16	.	ENSP00000384450:Q16K	Q	-	1	0	LIF	28970024	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.217000	0.42880	2.084000	0.62774	0.561000	0.74099	CAA		PASS	0.642	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		35	51	35	51	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42575682	42575682	+	Silent	SNP	G	G	A	rs188189383	byFrequency	TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr22:42575682G>A	ENST00000359486.3	-	2	5818	c.5682C>T	c.(5680-5682)ggC>ggT	p.G1894G	TCF20_ENST00000404876.1_Silent_p.G195G|TCF20_ENST00000335626.4_Silent_p.G1894G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1894					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.G1894G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCAAGGTGGCGCCTGCCTCCT	0.562													G|||	6	0.00119808	0.0	0.0	5008	,	,		16943	0.006		0.0	False		,,,				2504	0.0					uc003bcj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(5680-5682)GGC>GGT		transcription factor 20 isoform 1		G	,	0,4406		0,0,2203	158.0	130.0	139.0		5682,5682	0.1	1.0	22		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TCF20	NM_005650.1,NM_181492.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1894/1961,1894/1939	42575682	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42575682G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5682C>T	22.37:g.42575682G>A						TCF20_uc003bck.1_Silent_p.G1894G|TCF20_uc003bnt.2_Silent_p.G1894G	p.G1894G	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			2	5816	-			1894			PHD-type; atypical.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.5682C>T	CCDS14033.1																																																																																				PASS	0.562	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		17	158	17	158	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44127589	44127589	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr22:44127589C>T	ENST00000262726.7	-	8	1000	c.747G>A	c.(745-747)atG>atA	p.M249I	EFCAB6_ENST00000356087.4_Missense_Mutation_p.M143I|EFCAB6_ENST00000396231.2_Missense_Mutation_p.M97I|EFCAB6_ENST00000358439.4_Missense_Mutation_p.M143I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.M249I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTGATTTCCCATACAATATC	0.323																																						uc003bdy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(745-747)ATG>ATA		CAP-binding protein complex interacting protein							102.0	95.0	97.0					22																	44127589		2202	4298	6500	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44127589C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.747G>A	22.37:g.44127589C>T	ENSP00000262726:p.Met249Ile					EFCAB6_uc003bdz.1_Missense_Mutation_p.M97I|EFCAB6_uc010gzi.1_Missense_Mutation_p.M97I|EFCAB6_uc010gzk.1_RNA|EFCAB6_uc011aqa.1_Missense_Mutation_p.M143I|EFCAB6_uc003bea.1_Missense_Mutation_p.M246I|EFCAB6_uc003beb.3_Missense_Mutation_p.M143I	p.M249I	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			8	962	-		Ovarian(80;0.0247)|all_neural(38;0.025)	249					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.747G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.392	-0.339640	0.05243	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.22	-0.556	0.11803	.	0.982784	0.08348	N	0.959722	T	0.21881	0.0527	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.001;0.0;0.003;0.001	T	0.30909	-0.9962	10	0.23302	T	0.38	-5.9152	4.941	0.13965	0.2571:0.5134:0.0:0.2295	.	143;143;249;249	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	I	97;249;143;143	ENSP00000379533:M97I;ENSP00000262726:M249I;ENSP00000351219:M143I;ENSP00000348391:M143I	ENSP00000262726:M249I	M	-	3	0	EFCAB6	42458922	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.113000	0.15499	-0.270000	0.09285	-0.808000	0.03180	ATG		PASS	0.323	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		14	32	14	32	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32404524	32404524	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrX:32404524C>T	ENST00000357033.4	-	33	4783	c.4577G>A	c.(4576-4578)gGa>gAa	p.G1526E	DMD_ENST00000378677.2_Missense_Mutation_p.G1522E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1526	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.G1522E(1)|p.G1521E(1)|p.G185E(1)|p.G1526E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATCTGACGTCCAGTCTTTAT	0.353																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4576-4578)GGA>GAA		dystrophin Dp427m isoform							185.0	155.0	165.0					X																	32404524		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32404524C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4577G>A	X.37:g.32404524C>T	ENSP00000354923:p.Gly1526Glu					DMD_uc004dcw.2_Missense_Mutation_p.G182E|DMD_uc004dcx.2_Missense_Mutation_p.G185E|DMD_uc004dcz.2_Missense_Mutation_p.G1403E|DMD_uc004dcy.1_Missense_Mutation_p.G1522E|DMD_uc004ddb.1_Missense_Mutation_p.G1518E|DMD_uc010ngo.1_Intron	p.G1526E	NM_004006	NP_003997	P11532	DMD_HUMAN			33	4821	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1526			Spectrin 10.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4577G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922553	0.92319	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.44482	0.92;0.92	5.47	5.47	0.80525	.	0.000000	0.36555	U	0.002536	T	0.68054	0.2959	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.957;0.999;0.999;0.999	T	0.70857	-0.4758	10	0.51188	T	0.08	.	18.4171	0.90574	0.0:1.0:0.0:0.0	.	1518;1526;1522;185;182	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	E	1518;185;182;1522;1526;1526;1403	ENSP00000367948:G1522E;ENSP00000354923:G1526E	ENSP00000354923:G1526E	G	-	2	0	DMD	32314445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.289000	0.77006	0.600000	0.82982	GGA		PASS	0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		28	15	28	15	---	---	---	---
AR	367	broad.mit.edu	37	X	66863174	66863174	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrX:66863174G>T	ENST00000374690.3	+	2	2217	c.1693G>T	c.(1693-1695)Gat>Tat	p.D565Y	AR_ENST00000396044.3_Missense_Mutation_p.D565Y|AR_ENST00000504326.1_Missense_Mutation_p.D565Y|AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Missense_Mutation_p.D33Y	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	564	Interaction with LPXN.			E -> K (in Ref. 14; AAA51774). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D565Y(1)|p.D375Y(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GATCTGTGGAGATGAAGCTTC	0.483									Androgen Insensitivity Syndrome																													uc004dwu.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(1693-1695)GAT>TAT		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						130.0	106.0	114.0					X																	66863174		2203	4300	6503	SO:0001583	missense	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66863174G>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1693G>T	X.37:g.66863174G>T	ENSP00000363822:p.Asp565Tyr					AR_uc011mpd.1_Missense_Mutation_p.D565Y|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.D565Y|AR_uc004dwv.1_Missense_Mutation_p.D33Y	p.D565Y	NM_000044	NP_000035	P10275	ANDR_HUMAN			2	2808	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	564			NR C4-type.|Nuclear receptor.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.1693G>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391054	0.82902	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.27	5.27	0.74061	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98896	0.9626	M	0.84156	2.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.995;0.999	D	0.99828	1.1052	10	0.87932	D	0	.	15.2433	0.73488	0.0:0.0:1.0:0.0	.	565;565;33;564	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	Y	375;565;565;565;33	ENSP00000363822:D565Y;ENSP00000421155:D565Y;ENSP00000379359:D565Y;ENSP00000379358:D33Y	ENSP00000363822:D565Y	D	+	1	0	AR	66779899	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.642000	0.98461	2.189000	0.69895	0.523000	0.50628	GAT		PASS	0.483	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		47	21	47	21	---	---	---	---
LPAR4	2846	broad.mit.edu	37	X	78010451	78010451	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrX:78010451A>T	ENST00000435339.3	+	2	471	c.85A>T	c.(85-87)Aat>Tat	p.N29Y		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	29					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)|lipid binding (GO:0008289)	p.N29Y(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TACTGCCAATAATACTTGCAT	0.403																																						uc010nme.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(85-87)AAT>TAT		lysophosphatidic acid receptor 4							257.0	214.0	229.0					X																	78010451		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010451A>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.85A>T	X.37:g.78010451A>T	ENSP00000408205:p.Asn29Tyr						p.N29Y	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	490	+			29			Extracellular (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.85A>T	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.668375	0.29604	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.36157	1.27;1.27	4.32	3.15	0.36227	.	0.317898	0.29579	U	0.011746	T	0.22003	0.0530	L	0.27053	0.805	0.29878	N	0.826283	B	0.15719	0.014	B	0.16722	0.016	T	0.10019	-1.0648	10	0.62326	D	0.03	.	4.217	0.10539	0.5278:0.3015:0.0:0.1707	.	29	Q99677	LPAR4_HUMAN	Y	29	ENSP00000408205:N29Y;ENSP00000362398:N29Y	ENSP00000362398:N29Y	N	+	1	0	LPAR4	77897107	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.618000	0.46393	1.609000	0.50190	0.345000	0.21793	AAT		PASS	0.403	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		63	36	63	36	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91133858	91133858	+	Silent	SNP	G	G	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrX:91133858G>A	ENST00000373094.1	+	2	3464	c.2619G>A	c.(2617-2619)aaG>aaA	p.K873K	PCDH11X_ENST00000361724.1_Silent_p.K873K|PCDH11X_ENST00000395337.2_Silent_p.K873K|PCDH11X_ENST00000373097.1_Silent_p.K873K|PCDH11X_ENST00000504220.2_Silent_p.K873K|PCDH11X_ENST00000361655.2_Silent_p.K873K|PCDH11X_ENST00000298274.8_Silent_p.K873K|PCDH11X_ENST00000373088.1_Silent_p.K873K|PCDH11X_ENST00000406881.1_Silent_p.K873K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	873	Poly-Lys.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K873K(5)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						agaaaaagaagaagaagCATT	0.403																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			5	Substitution - coding silent(5)		lung(3)|large_intestine(2)	large_intestine(2)	2						c.(2617-2619)AAG>AAA		protocadherin 11 X-linked isoform c							71.0	66.0	68.0					X																	91133858		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133858G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2619G>A	X.37:g.91133858G>A						PCDH11X_uc004efl.1_Silent_p.K873K|PCDH11X_uc004efo.1_Silent_p.K873K|PCDH11X_uc010nmv.1_Silent_p.K873K|PCDH11X_uc004efm.1_Silent_p.K873K|PCDH11X_uc004efn.1_Silent_p.K873K|PCDH11X_uc004efh.1_Silent_p.K873K|PCDH11X_uc004efj.1_Silent_p.K873K	p.K873K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3464	+			873			Cytoplasmic (Potential).|Poly-Lys.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2619G>A	CCDS14461.1																																																																																				PASS	0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		27	23	27	23	---	---	---	---
ESX1	80712	broad.mit.edu	37	X	103495292	103495292	+	Missense_Mutation	SNP	A	A	T	rs144173947		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrX:103495292A>T	ENST00000372588.4	-	4	921	c.838T>A	c.(838-840)Tca>Aca	p.S280T		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	280	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.S280T(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCCATGCGTGAGCCGGGTGGC	0.721																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(838-840)TCA>ACA		extraembryonic, spermatogenesis, homeobox							41.0	43.0	42.0					X																	103495292		2203	4298	6501	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495292A>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.838T>A	X.37:g.103495292A>T	ENSP00000361669:p.Ser280Thr						p.S280T	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			4	896	-			280			5.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.838T>A	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	3.489	-0.104242	0.06967	.	.	ENSG00000123576	ENST00000372588	T	0.72051	-0.62	1.82	-0.632	0.11523	.	.	.	.	.	T	0.48874	0.1524	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.18366	-1.0339	9	0.22706	T	0.39	.	4.1963	0.10445	0.6229:0.1922:0.1849:0.0	.	280	Q8N693	ESX1_HUMAN	T	280	ENSP00000361669:S280T	ENSP00000361669:S280T	S	-	1	0	ESX1	103381948	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	0.082000	0.14847	-1.217000	0.02604	-0.775000	0.03384	TCA		PASS	0.721	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		5	29	5	29	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107404948	107404948	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrX:107404948C>A	ENST00000372216.4	-	42	4337	c.4237G>T	c.(4237-4239)Ggc>Tgc	p.G1413C	COL4A6_ENST00000545689.1_Missense_Mutation_p.G1388C|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1413C|COL4A6_ENST00000334504.7_Missense_Mutation_p.G1412C|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1355C	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1413	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)	p.G1412C(1)		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						CCGGGGATGCCAGGTAAACCT	0.592									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(4237-4239)GGC>TGC		type IV alpha 6 collagen isoform A precursor							23.0	23.0	23.0					X																	107404948		2203	4300	6503	SO:0001583	missense	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:107404948C>A	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.4237G>T	X.37:g.107404948C>A	ENSP00000361290:p.Gly1413Cys					COL4A6_uc004env.3_Missense_Mutation_p.G1412C|COL4A6_uc011msn.1_Missense_Mutation_p.G1388C|COL4A6_uc010npk.2_Missense_Mutation_p.G1355C|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_Intron	p.G1413C	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			42	4340	-			1413			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4237G>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229314	0.39399	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29	5.13	5.13	0.70059	.	0.000000	0.39985	N	0.001213	D	0.99816	0.9919	H	0.97940	4.11	0.54753	D	0.999983	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	0.96712	0.9526	10	0.87932	D	0	.	18.2684	0.90060	0.0:1.0:0.0:0.0	.	1388;1355;1413;1412	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	C	1413;1412;1413;1400;1388;1355	ENSP00000361290:G1413C;ENSP00000334733:G1412C;ENSP00000378340:G1413C;ENSP00000443707:G1388C;ENSP00000445236:G1355C	ENSP00000334733:G1412C	G	-	1	0	COL4A6	107291604	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	5.783000	0.68982	2.447000	0.82792	0.600000	0.82982	GGC		PASS	0.592	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			13	7	13	7	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118223293	118223294	+	Missense_Mutation	DNP	CT	CT	AG	rs368966840		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrX:118223293_118223294CT>AG	ENST00000402510.2	-	11	1898_1899	c.1899_1900AG>CT	c.(1897-1902)gcAGca>gcCTca	p.A634S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	634								p.A458S(2)|p.A634S(2)|p.A457A(1)|p.A633A(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATGGGCTGTGCTGCTGATGCTT	0.475																																						uc004era.3																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(4)|skin(1)	5						c.(1900-1902)GCA>TCA|c.(1897-1899)GCA>GCC		hypothetical protein LOC57481																																				SO:0001583	missense	57481							g.chrX:118223293C>A|g.chrX:118223294T>G	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1899_1900delinsAG	X.37:g.118223293_118223294delinsAG	ENSP00000384670:p.Ala634Ser						p.A634S|p.A633A	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	1900|1899	-			634|633					B7ZCI8|Q5JPN4	Missense_Mutation|Silent	SNP	ENST00000402510.2	37	c.1900G>T|c.1899A>C	CCDS48156.1																																																																																				PASS	0.475	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		26|27	11|12	26	11	---	---	---	---
GPC3	2719	broad.mit.edu	37	X	132887885	132887885	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrX:132887885A>G	ENST00000370818.3	-	3	1101	c.656T>C	c.(655-657)gTt>gCt	p.V219A	GPC3_ENST00000543339.1_Missense_Mutation_p.V165A|GPC3_ENST00000394299.2_Missense_Mutation_p.V219A	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	219					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.V219A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TGACTTGGAAACCTGGGTCAT	0.468			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			1	Substitution - Missense(1)		lung(1)	lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(655-657)GTT>GCT		glypican 3 isoform 2 precursor							371.0	273.0	306.0					X																	132887885		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887885A>G	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.656T>C	X.37:g.132887885A>G	ENSP00000359854:p.Val219Ala					GPC3_uc004exd.1_Missense_Mutation_p.V91A|GPC3_uc010nrn.1_Missense_Mutation_p.V219A|GPC3_uc011mvh.1_Missense_Mutation_p.V203A|GPC3_uc010nro.1_Missense_Mutation_p.V165A|GPC3_uc010nrp.1_Missense_Mutation_p.V91A	p.V219A	NM_004484	NP_004475	P51654	GPC3_HUMAN			3	846	-	Acute lymphoblastic leukemia(192;0.000127)		219					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.656T>C	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.193170	0.38707	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.53857	0.6;0.6;0.6	5.82	4.64	0.57946	.	0.129518	0.53938	D	0.000056	T	0.49677	0.1571	L	0.52573	1.65	0.35212	D	0.775269	B;P;B;B	0.35139	0.086;0.486;0.043;0.086	B;B;B;B	0.38225	0.063;0.268;0.133;0.063	T	0.61362	-0.7078	10	0.72032	D	0.01	.	11.5051	0.50461	0.852:0.148:0.0:0.0	.	203;165;219;219	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	A	219;219;165	ENSP00000359854:V219A;ENSP00000377836:V219A;ENSP00000444222:V165A	ENSP00000359854:V219A	V	-	2	0	GPC3	132715551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.116000	0.77119	0.802000	0.34089	0.481000	0.45027	GTT		PASS	0.468	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		66	38	66	38	---	---	---	---
PCDH11Y	83259	broad.mit.edu	37	Y	4967136	4967136	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrY:4967136C>A	ENST00000333703.4	+	5	1997	c.1484C>A	c.(1483-1485)tCt>tAt	p.S495Y	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S506Y|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.S506Y	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	506	Cadherin 4. {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.S506Y(2)|p.S495Y(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTAACTGTTTCTATTCCTGAG	0.443																																						uc004fqo.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1516-1518)TCT>TAT		protocadherin 11 Y-linked isoform c																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967136C>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1484C>A	Y.37:g.4967136C>A	ENSP00000330552:p.Ser495Tyr					PCDH11Y_uc010nwg.1_Missense_Mutation_p.S495Y|PCDH11Y_uc004fql.1_Missense_Mutation_p.S495Y|PCDH11Y_uc004fqm.1_Missense_Mutation_p.S495Y|PCDH11Y_uc004fqn.1_Missense_Mutation_p.S506Y|PCDH11Y_uc004fqp.1_Missense_Mutation_p.S277Y	p.S506Y	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			2	2251	+			506			Cadherin 5.|Extracellular (Potential).		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.1517C>A	CCDS14776.1																																																																																				PASS	0.443	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		7	16	7	16	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475430	140475430	+	Frame_Shift_Del	DEL	G	G	-			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr5:140475430delG	ENST00000194155.4	+	1	1204	c.1056delG	c.(1054-1056)tcgfs	p.S352fs		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	352					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)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAACTATGTCGACACTTATCA	0.463																																						uc003lil.2																			0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1054-1056)TCGfs		protocadherin beta 2 precursor							68.0	67.0	67.0					5																	140475430		2203	4300	6503	SO:0001589	frameshift_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475430delG	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1056delG	5.37:g.140475430delG	ENSP00000194155:p.Ser352fs					PCDHB2_uc003lim.1_Frame_Shift_Del_p.S13fs	p.S352fs	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1194	+			352			Extracellular (Potential).		Q4KMU1	Frame_Shift_Del	DEL	ENST00000194155.4	37	c.1056delG	CCDS4244.1																																																																																					0.463	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		20	16	20	16	---	---	---	---
SLC24A2	25769	broad.mit.edu	37	9	19516395	19516395	+	Frame_Shift_Del	DEL	G	G	-			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr9:19516395delG	ENST00000341998.2	-	10	1803	c.1742delC	c.(1741-1743)ccafs	p.P581fs	SLC24A2_ENST00000286344.3_Frame_Shift_Del_p.P564fs	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	581					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CCAGGGCAGTGGGAGCCTGTG	0.517																																						uc003zoa.1																			0				ovary(3)	3						c.(1741-1743)CCAfs		solute carrier family 24							38.0	40.0	39.0					9																	19516395		2203	4300	6503	SO:0001589	frameshift_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19516395delG	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1742delC	9.37:g.19516395delG	ENSP00000344801:p.Pro581fs					SLC24A2_uc003zob.1_Frame_Shift_Del_p.P564fs	p.P581fs	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	10	1804	-			581			Helical; (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Frame_Shift_Del	DEL	ENST00000341998.2	37	c.1742delC	CCDS6493.1																																																																																					0.517	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		18	14	18	14	---	---	---	---
OIP5	11339	broad.mit.edu	37	15	41624158	41624158	+	Frame_Shift_Del	DEL	A	A	-			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chr15:41624158delA	ENST00000220514.3	-	2	403	c.344delT	c.(343-345)ttgfs	p.L115fs	NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000260359.6_5'Flank|NUSAP1_ENST00000450592.2_5'Flank|NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000559596.1_5'Flank|NUSAP1_ENST00000560747.1_5'Flank|NUSAP1_ENST00000450318.1_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	115					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GGGCGCTTCCAAAACGACGTT	0.453											OREG0023073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001znp.2																			0					0						c.(343-345)TTGfs		Opa interacting protein 5							115.0	106.0	109.0					15																	41624158		2203	4300	6503	SO:0001589	frameshift_variant	11339				cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding	g.chr15:41624158delA	AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.344delT	15.37:g.41624158delA	ENSP00000220514:p.Leu115fs		OREG0023073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank	p.L115fs	NM_007280	NP_009211	O43482	MS18B_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)	2	404	-		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)	115					Q96BX7	Frame_Shift_Del	DEL	ENST00000220514.3	37	c.344delT	CCDS10074.1																																																																																					0.453	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252576.2	NM_007280		102	47	102	47	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105153518	105153518	+	Frame_Shift_Del	DEL	C	C	-	rs553259810		TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrX:105153518delC	ENST00000243300.9	+	13	2188	c.1885delC	c.(1885-1887)cccfs	p.P630fs	NRK_ENST00000428173.2_Frame_Shift_Del_p.P631fs	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	630					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GACACTAGAACCCCCACAGGC	0.498										HNSCC(51;0.14)																												uc004emd.2																			0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1885-1887)CCCfs		Nik related kinase							63.0	59.0	61.0					X																	105153518		1956	4136	6092	SO:0001589	frameshift_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153518delC	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1885delC	X.37:g.105153518delC	ENSP00000434830:p.Pro630fs	HNSCC(51;0.14)				NRK_uc010npc.1_Frame_Shift_Del_p.P297fs	p.P629fs	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	2188	+			629					Q32ND6|Q5H9K2|Q6ZMP2	Frame_Shift_Del	DEL	ENST00000243300.9	37	c.1885delC																																																																																						0.498	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		10	8	10	8	---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105280841	105280841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-39-5027-01A-21D-1817-08	TCGA-39-5027-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	32c14926-b510-4714-90b2-b0bd68569cd4	7b1d8459-aedc-4a58-8d31-20718fb96087	g.chrX:105280841delG	ENST00000327674.4	-	1	544	c.209delC	c.(208-210)cctfs	p.P70fs	SERPINA7_ENST00000372563.1_Frame_Shift_Del_p.P70fs|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	70					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AATGCTCACAGGGGAAAAGAA	0.483																																						uc004eme.1																			0					0						c.(208-210)CCTfs		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						119.0	104.0	109.0					X																	105280841		2203	4300	6503	SO:0001589	frameshift_variant	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280841delG	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.209delC	X.37:g.105280841delG	ENSP00000329374:p.Pro70fs					SERPINA7_uc010npd.2_Frame_Shift_Del_p.P70fs|SERPINA7_uc010npe.1_Frame_Shift_Del_p.P70fs	p.P70fs	NM_000354	NP_000345	P05543	THBG_HUMAN			1	225	-			70					D3DUX1	Frame_Shift_Del	DEL	ENST00000327674.4	37	c.209delC	CCDS14518.1																																																																																					0.483	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		31	50	31	50	---	---	---	---
