#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
IGSF21	84966	broad.mit.edu	37	1	18618451	18618451	+	Missense_Mutation	SNP	G	G	T	rs200292815		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:18618451G>T	ENST00000251296.1	+	3	658	c.275G>T	c.(274-276)cGa>cTa	p.R92L		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	92	Ig-like 1.					extracellular region (GO:0005576)		p.R92L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TACCGCAAGCGAGAGGACCTG	0.617																																						uc001bau.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(274-276)CGA>CTA		immunoglobin superfamily, member 21 precursor							138.0	123.0	128.0					1																	18618451		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18618451G>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.275G>T	1.37:g.18618451G>T	ENSP00000251296:p.Arg92Leu						p.R92L	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	3	658	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	92			Ig-like 1.		Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.275G>T	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799507	0.90538	.	.	ENSG00000117154	ENST00000251296	T	0.40225	1.04	5.01	5.01	0.66863	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.070116	0.50627	D	0.000110	T	0.63546	0.2520	M	0.75884	2.315	0.58432	D	0.999992	D	0.64830	0.994	D	0.74023	0.982	T	0.67799	-0.5577	10	0.87932	D	0	-15.4551	13.8181	0.63303	0.0:0.0:1.0:0.0	.	92	Q96ID5	IGS21_HUMAN	L	92	ENSP00000251296:R92L	ENSP00000251296:R92L	R	+	2	0	IGSF21	18491038	1.000000	0.71417	0.426000	0.26672	0.981000	0.71138	8.374000	0.90133	2.325000	0.78763	0.561000	0.74099	CGA		PASS	0.617	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		77	225	77	225	---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26885313	26885313	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:26885313C>G	ENST00000374168.2	+	14	1254	c.1100C>G	c.(1099-1101)cCc>cGc	p.P367R	RPS6KA1_ENST00000374166.4_Missense_Mutation_p.P356R|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.P275R|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.P376R|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.P275R|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.P351R	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	367	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.P376R(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCAGGCATCCCCCCCAGCGCT	0.672																																						uc001bmr.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1099-1101)CCC>CGC		ribosomal protein S6 kinase, 90kDa, polypeptide							63.0	63.0	63.0					1																	26885313		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885313C>G	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1100C>G	1.37:g.26885313C>G	ENSP00000363283:p.Pro367Arg					RPS6KA1_uc010ofe.1_Missense_Mutation_p.P275R|RPS6KA1_uc010off.1_Missense_Mutation_p.P351R|RPS6KA1_uc001bms.1_Missense_Mutation_p.P376R|RPS6KA1_uc009vsl.1_Missense_Mutation_p.P210R	p.P367R	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	14	1263	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	367			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1100C>G	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878892	0.91740	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.55	5.55	0.83447	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	M	0.85299	2.745	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.87578	0.991;0.985;0.998	T	0.82151	-0.0599	10	0.87932	D	0	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	351;376;367	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	R	367;356;275;275;351;87;376;25	ENSP00000363283:P367R;ENSP00000363281:P356R;ENSP00000431651:P275R;ENSP00000363277:P275R;ENSP00000432281:P351R;ENSP00000435412:P376R;ENSP00000383967:P25R	ENSP00000363277:P275R	P	+	2	0	RPS6KA1	26757900	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	7.564000	0.82326	2.894000	0.99253	0.655000	0.94253	CCC		PASS	0.672	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		35	127	35	127	---	---	---	---
GNL2	29889	broad.mit.edu	37	1	38058403	38058403	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:38058403T>A	ENST00000373062.3	-	3	252	c.154A>T	c.(154-156)Agt>Tgt	p.S52C		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	52					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.S52C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTACCACGACTGTTCCTAAAT	0.363																																						uc001cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(154-156)AGT>TGT		guanine nucleotide binding protein-like 2							113.0	113.0	113.0					1																	38058403		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38058403T>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.154A>T	1.37:g.38058403T>A	ENSP00000362153:p.Ser52Cys					GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Missense_Mutation_p.S52C	p.S52C	NM_013285	NP_037417	Q13823	NOG2_HUMAN			3	317	-		Myeloproliferative disorder(586;0.0393)	52					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.154A>T	CCDS421.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241843	0.79912	.	.	ENSG00000134697	ENST00000373062	T	0.24151	1.87	5.61	4.42	0.53409	Nucleolar GTPase, NGP1-type (1);	0.489617	0.26688	N	0.023005	T	0.42517	0.1206	M	0.72894	2.215	0.45541	D	0.998492	D;D	0.59767	0.986;0.986	P;P	0.54856	0.762;0.762	T	0.45906	-0.9229	10	0.72032	D	0.01	-8.2331	13.9887	0.64353	0.0:0.0:0.1344:0.8656	.	52;52	Q5T0F3;Q13823	.;NOG2_HUMAN	C	52	ENSP00000362153:S52C	ENSP00000362153:S52C	S	-	1	0	GNL2	37830990	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.111000	0.71541	2.134000	0.65973	0.533000	0.62120	AGT		PASS	0.363	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		86	254	86	254	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39798770	39798770	+	Silent	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:39798770T>C	ENST00000372915.3	+	36	6612	c.6525T>C	c.(6523-6525)tgT>tgC	p.C2175C	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.C610C|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.C2207C|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Silent_p.C2170C|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2175					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.C610C(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)			CCTTTACATGTCAGAATGAAC	0.393																																						uc010oiu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(1828-1830)TGT>TGC		microfilament and actin filament cross-linker							57.0	59.0	59.0					1																	39798770		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:39798770T>C	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.6525T>C	1.37:g.39798770T>C						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.C610C	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	1961	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2175					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.1830T>C																																																																																					PASS	0.393	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	183	3	183	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44056824	44056824	+	Silent	SNP	C	C	T	rs371794229	byFrequency	TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:44056824C>T	ENST00000359947.4	+	9	1471	c.1131C>T	c.(1129-1131)ggC>ggT	p.G377G	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000438120.1_Silent_p.G377G|PTPRF_ENST00000372413.3_Silent_p.G377G|PTPRF_ENST00000372414.3_Silent_p.G377G	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	377	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G367G(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACAGCATTGGCGGCCTCAGCC	0.667													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16950	0.0		0.0	False		,,,				2504	0.001					uc001cjr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(1129-1131)GGC>GGT		protein tyrosine phosphatase, receptor type, F		C	,	1,4405		0,1,2202	48.0	52.0	51.0		1131,1131	-8.2	0.4	1		51	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRF	NM_002840.3,NM_130440.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	377/1908,377/1899	44056824	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056824C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1131C>T	1.37:g.44056824C>T						PTPRF_uc001cjs.2_Silent_p.G377G|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	p.G377G	NM_002840	NP_002831	P10586	PTPRF_HUMAN			9	1471	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	377			Extracellular (Potential).|Fibronectin type-III 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.1131C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.125|9.125	1.010041|1.010041	0.19277|0.19277	2.27E-4|2.27E-4	0.0|0.0	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568	.|.	.|.	.|.	5.48|5.48	-8.23|-8.23	0.01033|0.01033	.|.	.|.	.|.	.|.	.|.	T|T	0.58337|0.58337	0.2115|0.2115	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64449|0.64449	-0.6405|-0.6405	4|4	.|.	.|.	.|.	.|.	12.9936|12.9936	0.58634|0.58634	0.0:0.1393:0.1571:0.7037|0.0:0.1393:0.1571:0.7037	.|.	.|.	.|.	.|.	V|W	34|45	.|.	.|.	A|R	+|+	2|1	0|2	PTPRF|PTPRF	43829411|43829411	0.000000|0.000000	0.05858|0.05858	0.445000|0.445000	0.26908|0.26908	0.899000|0.899000	0.52679|0.52679	-4.533000|-4.533000	0.00219|0.00219	-1.618000|-1.618000	0.01568|0.01568	-1.012000|-1.012000	0.02466|0.02466	GCG|CGG		PASS	0.667	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			4	144	4	144	---	---	---	---
DNAJC6	9829	broad.mit.edu	37	1	65845103	65845103	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:65845103C>T	ENST00000395325.3	+	5	548	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	DNAJC6_ENST00000371069.4_Missense_Mutation_p.P188S|DNAJC6_ENST00000263441.7_Missense_Mutation_p.P118S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	131	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.P131S(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATGCAGTTGGCCCATTAGGCA	0.458																																						uc001dcd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(391-393)CCC>TCC		DnaJ (Hsp40) homolog, subfamily C, member 6							155.0	152.0	153.0					1																	65845103		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65845103C>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.391C>T	1.37:g.65845103C>T	ENSP00000378735:p.Pro131Ser					DNAJC6_uc001dcc.1_Missense_Mutation_p.P162S|DNAJC6_uc010opc.1_Missense_Mutation_p.P118S|DNAJC6_uc001dce.1_Missense_Mutation_p.P188S	p.P131S	NM_014787	NP_055602	O75061	AUXI_HUMAN			5	555	+			131			Phosphatase tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.391C>T	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812324	0.90707	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98958	-5.27;-5.27;-5.27	5.32	5.32	0.75619	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.79011	2.435	0.80722	D	1	D;D;D	0.56287	0.963;0.971;0.975	P;P;P	0.53689	0.732;0.544;0.716	D	0.99663	1.0994	10	0.87932	D	0	.	19.1866	0.93647	0.0:1.0:0.0:0.0	.	188;131;118	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	S	118;131;188	ENSP00000263441:P118S;ENSP00000378735:P131S;ENSP00000360108:P188S	ENSP00000263441:P118S	P	+	1	0	DNAJC6	65617691	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.320000	0.79064	2.769000	0.95229	0.491000	0.48974	CCC		PASS	0.458	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			6	274	6	274	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66036267	66036267	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:66036267C>A	ENST00000349533.6	+	4	337	c.152C>A	c.(151-153)gCt>gAt	p.A51D	LEPR_ENST00000371059.3_Missense_Mutation_p.A51D|LEPR_ENST00000406510.3_5'UTR|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000371060.3_Missense_Mutation_p.A51D|LEPR_ENST00000344610.8_Missense_Mutation_p.A51D|LEPR_ENST00000371058.1_Missense_Mutation_p.A51D|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.A51D(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTTTTGCCTGCTGGACTCTCA	0.368																																						uc001dci.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(151-153)GCT>GAT		leptin receptor isoform 1							120.0	118.0	118.0					1																	66036267		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66036267C>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.152C>A	1.37:g.66036267C>A	ENSP00000330393:p.Ala51Asp					LEPR_uc001dcg.2_Missense_Mutation_p.A51D|LEPR_uc001dch.2_Missense_Mutation_p.A51D|LEPR_uc009waq.2_Missense_Mutation_p.A51D|LEPR_uc001dcj.2_Missense_Mutation_p.A51D|LEPR_uc001dck.2_Missense_Mutation_p.A51D	p.A51D	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	4	354	+			51			Extracellular (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.152C>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612407	0.66672	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.57595	0.41;0.41;0.42;0.39;0.41	5.56	2.54	0.30619	.	0.700825	0.15385	N	0.265126	T	0.45316	0.1336	M	0.68952	2.095	0.47994	D	0.999561	P;P;P;D	0.59357	0.879;0.921;0.953;0.985	P;P;P;P	0.54100	0.572;0.611;0.678;0.742	T	0.45160	-0.9280	10	0.52906	T	0.07	-1.003	5.6951	0.17851	0.351:0.5587:0.0:0.0903	.	51;51;51;51	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	D	51	ENSP00000340884:A51D;ENSP00000330393:A51D;ENSP00000360099:A51D;ENSP00000360098:A51D;ENSP00000360097:A51D	ENSP00000340884:A51D	A	+	2	0	LEPR	65808855	0.030000	0.19436	0.972000	0.41901	0.943000	0.58893	1.073000	0.30691	0.640000	0.30582	0.460000	0.39030	GCT		PASS	0.368	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		76	202	76	202	---	---	---	---
ACADM	34	broad.mit.edu	37	1	76205738	76205738	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:76205738A>G	ENST00000370841.4	+	7	979	c.542A>G	c.(541-543)gAt>gGt	p.D181G	ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000370834.5_Missense_Mutation_p.D214G|ACADM_ENST00000541113.1_Missense_Mutation_p.D145G|ACADM_ENST00000420607.2_Missense_Mutation_p.D185G	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	181					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.D181G(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AAGAAAGGAGATGAGTATATT	0.333																																						uc001dgw.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(541-543)GAT>GGT		medium-chain acyl-CoA dehydrogenase isoform a							95.0	99.0	98.0					1																	76205738		2203	4299	6502	SO:0001583	missense	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76205738A>G	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.542A>G	1.37:g.76205738A>G	ENSP00000359878:p.Asp181Gly					ACADM_uc010orc.1_3'UTR|ACADM_uc010ord.1_Missense_Mutation_p.D95G|ACADM_uc009wbp.2_Missense_Mutation_p.D185G|ACADM_uc009wbr.2_Missense_Mutation_p.D214G|ACADM_uc010ore.1_Missense_Mutation_p.D145G|ACADM_uc010orf.1_5'UTR|ACADM_uc001dgx.3_Missense_Mutation_p.D95G|ACADM_uc010org.1_Missense_Mutation_p.D51G	p.D181G	NM_000016	NP_000007	P11310	ACADM_HUMAN			7	972	+			181					Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	c.542A>G	CCDS668.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886077	0.72410	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62	5.57	5.57	0.84162	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.251884	0.45361	N	0.000366	D	0.98086	0.9369	L	0.35341	1.055	0.80722	D	1	P;B;B;B;B	0.44946	0.846;0.024;0.225;0.058;0.019	P;B;B;B;B	0.51297	0.665;0.147;0.424;0.12;0.095	D	0.99894	1.1142	10	0.72032	D	0.01	.	15.4029	0.74855	1.0:0.0:0.0:0.0	.	145;95;214;185;181	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	G	181;214;145;185	ENSP00000359878:D181G;ENSP00000359871:D214G;ENSP00000442324:D145G;ENSP00000409612:D185G	ENSP00000359871:D214G	D	+	2	0	ACADM	75978326	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.125000	0.94402	2.104000	0.64026	0.528000	0.53228	GAT		PASS	0.333	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			46	135	46	135	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103444940	103444940	+	Silent	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:103444940G>T	ENST00000370096.3	-	32	2920	c.2608C>A	c.(2608-2610)Cgg>Agg	p.R870R	COL11A1_ENST00000353414.4_Silent_p.R831R|COL11A1_ENST00000512756.1_Silent_p.R754R|COL11A1_ENST00000358392.2_Silent_p.R882R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	870	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R870R(1)|p.R882R(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TATCATACCCGTGCACCTTTC	0.378																																						uc001dul.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2608-2610)CGG>AGG		alpha 1 type XI collagen isoform A							47.0	51.0	50.0					1																	103444940		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444940G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2608C>A	1.37:g.103444940G>T						COL11A1_uc001duk.2_Silent_p.R66R|COL11A1_uc001dum.2_Silent_p.R882R|COL11A1_uc001dun.2_Silent_p.R831R|COL11A1_uc009weh.2_Silent_p.R754R	p.R870R	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	32	2926	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	870			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.2608C>A	CCDS778.1																																																																																				PASS	0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		9	32	9	32	---	---	---	---
PPM1J	333926	broad.mit.edu	37	1	113253886	113253886	+	Splice_Site	SNP	A	A	C	rs540188332		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:113253886A>C	ENST00000309276.6	-	6	1222		c.e6+1		RP11-426L16.10_ENST00000471038.2_Splice_Site|PPM1J_ENST00000359994.4_Splice_Site|PPM1J_ENST00000464951.1_Splice_Site|RP11-426L16.10_ENST00000606505.1_Splice_Site	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J						protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAAGTGTTACCAGCCGGTC	0.612																																						uc001ect.1																			1	Unknown(1)		lung(1)	breast(2)|central_nervous_system(1)	3						c.e6+1		protein phosphatase 1J (PP2C domain containing)							62.0	48.0	53.0					1																	113253886		2202	4300	6502	SO:0001630	splice_region_variant	333926							g.chr1:113253886A>C	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1046+1T>G	1.37:g.113253886A>C						PPM1J_uc009wgl.1_Splice_Site|PPM1J_uc001ecs.1_Splice_Site_p.W143_splice	p.W349_splice	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1073	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)						B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Splice_Site	SNP	ENST00000309276.6	37	c.1046_splice	CCDS855.2	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673474	0.67928	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8345	0.70172	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPM1J	113055409	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.884000	0.92432	2.047000	0.60756	0.397000	0.26171	.		PASS	0.612	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167	Intron	6	26	6	26	---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115220031	115220031	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:115220031G>T	ENST00000520113.2	-	10	1443	c.1428C>A	c.(1426-1428)ttC>ttA	p.F476L	AMPD1_ENST00000369538.3_Missense_Mutation_p.F472L|AMPD1_ENST00000353928.6_Missense_Mutation_p.F443L			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	476					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.F476L(1)|p.F443L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GATTGCAGACGAACCAGGAGG	0.562																																						uc001efe.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1327-1329)TTC>TTA		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)						130.0	111.0	118.0					1																	115220031		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115220031G>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1428C>A	1.37:g.115220031G>T	ENSP00000430075:p.Phe476Leu					AMPD1_uc001eff.1_Missense_Mutation_p.F439L	p.F443L	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1413	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	443					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1329C>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860909	0.51482	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82167	-1.58;-1.58;-1.58	5.85	0.15	0.14883	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	L	0.49126	1.545	0.54753	D	0.999989	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.97	T	0.76534	-0.2924	10	0.23302	T	0.38	-19.9147	11.3336	0.49490	0.6802:0.0:0.3198:0.0	.	472;443	Q5TF02;P23109	.;AMPD1_HUMAN	L	476;472;443	ENSP00000430075:F476L;ENSP00000358551:F472L;ENSP00000316520:F443L	ENSP00000316520:F443L	F	-	3	2	AMPD1	115021554	0.840000	0.29493	0.989000	0.46669	0.480000	0.33159	-0.037000	0.12164	-0.148000	0.11234	-0.367000	0.07326	TTC		PASS	0.562	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			12	219	12	219	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118558588	118558588	+	Splice_Site	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:118558588C>A	ENST00000336338.5	-	29	4352	c.4287G>T	c.(4285-4287)acG>acT	p.T1429T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1429						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.T1429T(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTGTCATACCGTTCCATTGA	0.378																																						uc001ehk.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4285-4287)ACG>ACT		sperm associated antigen 17							113.0	120.0	117.0					1																	118558588		2203	4300	6503	SO:0001630	splice_region_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118558588C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4287+1G>T	1.37:g.118558588C>A							p.T1429T	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	29	4355	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1429					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.4287G>T	CCDS899.1																																																																																				PASS	0.378	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	Silent	33	95	33	95	---	---	---	---
ANKRD34A	284615	broad.mit.edu	37	1	145473835	145473835	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:145473835G>A	ENST00000323397.4	+	4	1800	c.507G>A	c.(505-507)gaG>gaA	p.E169E	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	169						cytoplasm (GO:0005737)		p.E169E(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGGGGTGGAGGACCCTGCTC	0.617																																						uc001enq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(505-507)GAG>GAA		ankyrin repeat domain 34							59.0	58.0	59.0					1																	145473835		2203	4300	6503	SO:0001819	synonymous_variant	284615							g.chr1:145473835G>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.507G>A	1.37:g.145473835G>A						NBPF10_uc001emp.3_Intron	p.E169E	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1800	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		169					B3KSU3	Silent	SNP	ENST00000323397.4	37	c.507G>A	CCDS30829.1																																																																																				PASS	0.617	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			86	153	86	153	---	---	---	---
RAB13	5872	broad.mit.edu	37	1	153958590	153958590	+	Splice_Site	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:153958590G>T	ENST00000368575.3	-	1	238	c.123C>A	c.(121-123)atC>atA	p.I41I	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	41					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I41I(2)		breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGGGCTCACCGATGGTGGAGA	0.552																																					Ovarian(138;395 2427 24306 43415)	uc001fdt.1																			2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)		0						c.(121-123)ATC>ATA		RAB13, member RAS oncogene family							81.0	69.0	73.0					1																	153958590		2203	4300	6503	SO:0001630	splice_region_variant	5872				cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	g.chr1:153958590G>T	X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.124+1C>A	1.37:g.153958590G>T						RAB13_uc001fdu.1_Silent_p.I41I	p.I41I	NM_002870	NP_002861	P51153	RAB13_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	217	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		41			Effector region (By similarity).		A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Silent	SNP	ENST00000368575.3	37	c.123C>A	CCDS1058.1																																																																																				PASS	0.552	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	NM_002870	Silent	20	71	20	71	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153984754	153984754	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:153984754G>C	ENST00000368559.3	-	34	4817	c.4746C>G	c.(4744-4746)ttC>ttG	p.F1582L	NUP210L_ENST00000271854.3_Missense_Mutation_p.F1582L|NUP210L_ENST00000368553.1_Missense_Mutation_p.F515L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1582					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.F1582L(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGTGGTGATGAAGAGCTTGA	0.398																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(4744-4746)TTC>TTG		nucleoporin 210kDa-like isoform 1							308.0	271.0	283.0					1																	153984754		1932	4159	6091	SO:0001583	missense	91181					integral to membrane		g.chr1:153984754G>C	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4746C>G	1.37:g.153984754G>C	ENSP00000357547:p.Phe1582Leu					NUP210L_uc009woq.2_Missense_Mutation_p.F491L|NUP210L_uc010peh.1_Missense_Mutation_p.F1582L	p.F1582L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		34	4818	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1582					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4746C>G	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	9.756	1.168839	0.21621	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.20463	3.67;2.07;3.39	6.0	5.09	0.68999	.	0.174531	0.41500	D	0.000870	T	0.08537	0.0212	M	0.63428	1.95	0.31519	N	0.662647	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.25187	-1.0139	10	0.10377	T	0.69	-19.9949	12.3828	0.55315	0.0778:0.0:0.9222:0.0	.	1582;1582	E7EP56;Q5VU65	.;P210L_HUMAN	L	1582;515;1582	ENSP00000357547:F1582L;ENSP00000357541:F515L;ENSP00000271854:F1582L	ENSP00000271854:F1582L	F	-	3	2	NUP210L	152251378	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.016000	0.40971	1.569000	0.49696	-0.266000	0.10368	TTC		PASS	0.398	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		86	467	86	467	---	---	---	---
DCST2	127579	broad.mit.edu	37	1	155006038	155006038	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:155006038A>C	ENST00000368424.3	-	1	198	c.140T>G	c.(139-141)gTg>gGg	p.V47G	DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST2_ENST00000295536.5_Missense_Mutation_p.V47G|DCST1_ENST00000392480.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	47						integral component of membrane (GO:0016021)		p.V47G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGGCCTTCCACCAGTAGCTC	0.627																																						uc001fgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(139-141)GTG>GGG		DC-STAMP domain containing 2							68.0	67.0	67.0					1																	155006038		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155006038A>C	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.140T>G	1.37:g.155006038A>C	ENSP00000357409:p.Val47Gly					DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	p.V47G	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	220	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		47			Helical; (Potential).		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.140T>G	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	11.72	1.723788	0.30593	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.26223	1.75;1.78	5.59	1.91	0.25777	.	0.101535	0.37530	N	0.002045	T	0.03564	0.0102	N	0.08118	0	0.40289	D	0.978485	B	0.17038	0.02	B	0.17433	0.018	T	0.32693	-0.9897	10	0.26408	T	0.33	-7.1935	4.8158	0.13365	0.5296:0.3091:0.1613:0.0	.	47	Q5T1A1	DCST2_HUMAN	G	47	ENSP00000357409:V47G;ENSP00000295536:V47G	ENSP00000295536:V47G	V	-	2	0	DCST2	153272662	0.900000	0.30661	0.983000	0.44433	0.463000	0.32649	0.690000	0.25451	0.066000	0.16515	0.459000	0.35465	GTG		PASS	0.627	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		80	179	80	179	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157659687	157659687	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:157659687C>A	ENST00000368184.3	-	10	2002	c.1711G>T	c.(1711-1713)Ggc>Tgc	p.G571C	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.G571C	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	571						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G571C(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCGGTAAGGCCTGTTCTGTTC	0.557																																						uc001frb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1711-1713)GGC>TGC		Fc receptor-like 3 precursor							180.0	140.0	154.0					1																	157659687		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157659687C>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1711G>T	1.37:g.157659687C>A	ENSP00000357167:p.Gly571Cys					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.G571C|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.G297C|FCRL3_uc001frc.1_Missense_Mutation_p.G571C	p.G571C	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			10	2003	-	all_hematologic(112;0.0378)		571			Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1711G>T	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741606	0.49151	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.56103	0.51;0.48	5.21	3.23	0.37069	.	0.832980	0.10020	N	0.726091	T	0.48572	0.1507	L	0.52011	1.625	0.09310	N	1	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.67382	0.894;0.921;0.951	T	0.32745	-0.9895	10	0.66056	D	0.02	.	6.5073	0.22202	0.0:0.7419:0.0:0.2581	.	571;476;571	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	C	571	ENSP00000357169:G571C;ENSP00000357167:G571C	ENSP00000292392:G571C	G	-	1	0	FCRL3	155926311	0.001000	0.12720	0.001000	0.08648	0.036000	0.12997	0.956000	0.29202	1.073000	0.40885	0.650000	0.86243	GGC		PASS	0.557	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		93	123	93	123	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158615155	158615155	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:158615155C>G	ENST00000368147.4	-	29	4197	c.4017G>C	c.(4015-4017)gaG>gaC	p.E1339D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1339					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.E1339D(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)					GAGCCTCTGCCTCCATGTCAG	0.483																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4015-4017)GAG>GAC		spectrin, alpha, erythrocytic 1							61.0	61.0	61.0					1																	158615155		1915	4147	6062	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.chr1:158615155C>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.4017G>C	1.37:g.158615155C>G	ENSP00000357129:p.Glu1339Asp						p.E1339D	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4216	-	all_hematologic(112;0.0378)		1339			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4017G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	2.635	-0.285530	0.05605	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.06	1.01	0.19927	.	.	.	.	.	T	0.06371	0.0164	N	0.11154	0.105	0.27935	N	0.937727	B	0.02656	0.0	B	0.13407	0.009	T	0.40346	-0.9568	9	0.02654	T	1	.	5.4877	0.16759	0.5065:0.3379:0.0:0.1555	.	1339	P02549	SPTA1_HUMAN	D	1339	ENSP00000357130:E1339D;ENSP00000357129:E1339D	ENSP00000357129:E1339D	E	-	3	2	SPTA1	156881779	0.951000	0.32395	0.607000	0.28956	0.825000	0.46686	0.048000	0.14078	0.031000	0.15407	0.650000	0.86243	GAG		PASS	0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		106	100	106	100	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158623161	158623161	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:158623161C>T	ENST00000368147.4	-	22	3271	c.3091G>A	c.(3091-3093)Gtc>Atc	p.V1031I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1031	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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.V1031I(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)					AGTCTTCTGACATAGACAGCT	0.547																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3091-3093)GTC>ATC		spectrin, alpha, erythrocytic 1							97.0	98.0	98.0					1																	158623161		2041	4184	6225	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.chr1:158623161C>T	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.3091G>A	1.37:g.158623161C>T	ENSP00000357129:p.Val1031Ile						p.V1031I	NM_003126	NP_003117	P02549	SPTA1_HUMAN			22	3290	-	all_hematologic(112;0.0378)		1031			SH3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3091G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888867	0.52014	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51817	0.69;0.69	5.15	4.24	0.50183	Src homology-3 domain (3);Spectrin alpha chain, SH3 domain (1);	0.000000	0.29684	N	0.011479	T	0.41673	0.1169	L	0.54965	1.715	0.44247	D	0.997091	P	0.51653	0.947	P	0.54100	0.742	T	0.25012	-1.0144	10	0.29301	T	0.29	.	12.6116	0.56554	0.0:0.9195:0.0:0.0805	.	1031	P02549	SPTA1_HUMAN	I	1031	ENSP00000357130:V1031I;ENSP00000357129:V1031I	ENSP00000357129:V1031I	V	-	1	0	SPTA1	156889785	1.000000	0.71417	0.624000	0.29186	0.014000	0.08584	5.341000	0.65964	1.412000	0.46977	0.655000	0.94253	GTC		PASS	0.547	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		141	152	141	152	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159900969	159900969	+	Silent	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:159900969A>G	ENST00000368094.1	-	13	1793	c.1596T>C	c.(1594-1596)gaT>gaC	p.D532D	IGSF9_ENST00000361509.3_Silent_p.D516D|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	532	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D516D(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GATAACCACCATCAAAGCCAG	0.557																																						uc001fur.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(1594-1596)GAT>GAC		immunoglobulin superfamily, member 9 isoform a							97.0	80.0	86.0					1																	159900969		2203	4300	6503	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159900969A>G	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1596T>C	1.37:g.159900969A>G						IGSF9_uc001fuq.2_Silent_p.D516D|IGSF9_uc001fup.2_5'UTR	p.D532D	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		13	1794	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	532			Fibronectin type-III 1.|Extracellular (Potential).			Silent	SNP	ENST00000368094.1	37	c.1596T>C	CCDS44254.1																																																																																				PASS	0.557	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		20	92	20	92	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169993677	169993677	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:169993677T>C	ENST00000361580.2	-	9	1129	c.902A>G	c.(901-903)aAc>aGc	p.N301S	RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000367765.1_Missense_Mutation_p.N261S|KIFAP3_ENST00000367767.1_Missense_Mutation_p.N257S|KIFAP3_ENST00000540905.1_Missense_Mutation_p.N3S|KIFAP3_ENST00000538366.1_Missense_Mutation_p.N223S	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	301					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.N301S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATGTTCTTGTTCCTCATTTT	0.343																																						uc001ggv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(901-903)AAC>AGC		kinesin-associated protein 3							76.0	77.0	77.0					1																	169993677		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169993677T>C	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.902A>G	1.37:g.169993677T>C	ENSP00000354560:p.Asn301Ser					KIFAP3_uc010plx.1_Missense_Mutation_p.N3S	p.N301S	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			9	1173	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		301					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.902A>G	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941921	0.73557	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.92	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.75264	2.295	0.80722	D	1	P	0.51240	0.943	P	0.50860	0.652	T	0.39251	-0.9623	9	.	.	.	-23.3324	12.1691	0.54148	0.1284:0.0:0.0:0.8716	.	301	Q92845	KIFA3_HUMAN	S	301;261;257;3;223	ENSP00000354560:N301S;ENSP00000356739:N261S;ENSP00000356741:N257S;ENSP00000442712:N3S;ENSP00000444622:N223S	.	N	-	2	0	KIFAP3	168260301	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.606000	0.82863	1.038000	0.40049	-0.341000	0.08007	AAC		PASS	0.343	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		21	101	21	101	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176563866	176563866	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:176563866A>T	ENST00000367662.3	+	3	2290	c.1126A>T	c.(1126-1128)Atg>Ttg	p.M376L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.M376L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	376					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M376L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGACGGCACATGGCCCTGTA	0.582																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1126-1128)ATG>TTG		pappalysin 2 isoform 1							71.0	72.0	72.0					1																	176563866		2091	4226	6317	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563866A>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1126A>T	1.37:g.176563866A>T	ENSP00000356634:p.Met376Leu					PAPPA2_uc001gky.1_Missense_Mutation_p.M376L|PAPPA2_uc009www.2_RNA	p.M376L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2290	+			376					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1126A>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	4.946	0.175722	0.09391	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.71698	-0.59;-0.59	5.45	3.01	0.34805	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, subdomain 2 (1);	0.380263	0.32357	N	0.006218	T	0.49218	0.1544	N	0.20574	0.59	0.27050	N	0.963811	B;B	0.31968	0.349;0.167	B;B	0.30943	0.122;0.045	T	0.37865	-0.9687	10	0.36615	T	0.2	-12.8078	5.2627	0.15582	0.6945:0.1512:0.1543:0.0	.	376;376	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	L	376	ENSP00000356634:M376L;ENSP00000356633:M376L	ENSP00000356633:M376L	M	+	1	0	PAPPA2	174830489	1.000000	0.71417	0.320000	0.25306	0.058000	0.15608	6.099000	0.71466	0.912000	0.36772	-0.256000	0.11100	ATG		PASS	0.582	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			41	141	41	141	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179494492	179494492	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:179494492G>A	ENST00000367618.3	+	22	2907	c.2520G>A	c.(2518-2520)gaG>gaA	p.E840E		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	840	Glu-rich.							p.E840E(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AATTCATTGAGCCTGAAATAG	0.313																																						uc001gmo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2518-2520)GAG>GAA		hypothetical protein LOC126859 isoform 1							45.0	46.0	46.0					1																	179494492		2202	4297	6499	SO:0001819	synonymous_variant	126859							g.chr1:179494492G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2520G>A	1.37:g.179494492G>A						C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_RNA	p.E840E	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			22	2647	+			840			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	ENST00000367618.3	37	c.2520G>A	CCDS30948.1																																																																																				PASS	0.313	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		5	66	5	66	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186008977	186008977	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:186008977G>A	ENST00000271588.4	+	39	6375	c.6146G>A	c.(6145-6147)gGg>gAg	p.G2049E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G2049E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2049	Ig-like C2-type 18.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G2049E(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGAAAGATGGGAGTCCTGTT	0.443																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(6145-6147)GGG>GAG		hemicentin 1 precursor							145.0	136.0	139.0					1																	186008977		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186008977G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6146G>A	1.37:g.186008977G>A	ENSP00000271588:p.Gly2049Glu						p.G2049E	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			39	6375	+			2049			Ig-like C2-type 18.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6146G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833509	0.91036	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.78707	-1.2;-1.2	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89594	0.3830	10	0.56958	D	0.05	.	18.2473	0.89991	0.0:0.0:1.0:0.0	.	2049	Q96RW7	HMCN1_HUMAN	E	2049	ENSP00000271588:G2049E;ENSP00000356462:G2049E	ENSP00000271588:G2049E	G	+	2	0	HMCN1	184275600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.384000	0.97219	2.466000	0.83321	0.650000	0.86243	GGG		PASS	0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		151	166	151	166	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390149	197390149	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:197390149C>T	ENST00000367400.3	+	6	1326	c.1191C>T	c.(1189-1191)gaC>gaT	p.D397D	CRB1_ENST00000543483.1_Silent_p.D96D|CRB1_ENST00000367399.2_Silent_p.D285D|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.D328D|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.D397D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	397	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D397D(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCGAAGAAGACGTCAATGAAT	0.333																																						uc001gtz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1189-1191)GAC>GAT		crumbs homolog 1 precursor							119.0	108.0	111.0					1																	197390149		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390149C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1191C>T	1.37:g.197390149C>T						CRB1_uc010poz.1_Silent_p.D328D|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.D285D|CRB1_uc010ppb.1_Silent_p.D397D|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Translation_Start_Site|CRB1_uc001gub.1_Silent_p.D46D	p.D397D	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1326	+			397			Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1191C>T	CCDS1390.1																																																																																				PASS	0.333	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		88	212	88	212	---	---	---	---
TNNT2	7139	broad.mit.edu	37	1	201332453	201332453	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:201332453T>C	ENST00000509001.1	-	11	827	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	TNNT2_ENST00000367320.2_Missense_Mutation_p.M151V|TNNT2_ENST00000236918.7_Missense_Mutation_p.M186V|TNNT2_ENST00000367315.2_Missense_Mutation_p.M181V|TNNT2_ENST00000367318.5_Missense_Mutation_p.M181V|TNNT2_ENST00000458432.2_Missense_Mutation_p.M193V|TNNT2_ENST00000421663.2_Missense_Mutation_p.M183V|TNNT2_ENST00000367317.4_Missense_Mutation_p.M181V|TNNT2_ENST00000367322.1_Missense_Mutation_p.M181V|TNNT2_ENST00000360372.4_Missense_Mutation_p.M176V|TNNT2_ENST00000460780.1_5'UTR	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	191					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.M181V(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						AAATGCATCATGTTGGACAAA	0.552																																						uc001gwf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)ATG>GTG		troponin T type 2, cardiac isoform 1							306.0	254.0	272.0					1																	201332453		2203	4300	6503	SO:0001583	missense	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201332453T>C	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.541A>G	1.37:g.201332453T>C	ENSP00000422031:p.Met181Val					TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_5'Flank|TNNT2_uc001gwg.2_Missense_Mutation_p.M181V|TNNT2_uc001gwh.2_Missense_Mutation_p.M176V|TNNT2_uc001gwi.2_Missense_Mutation_p.M151V|TNNT2_uc009wzr.2_Missense_Mutation_p.M122V|TNNT2_uc001gwj.1_RNA|TNNT2_uc009wzs.1_Missense_Mutation_p.M156V|TNNT2_uc001gwk.1_Missense_Mutation_p.M122V|TNNT2_uc009wzt.1_Missense_Mutation_p.M181V	p.M191V	NM_000364	NP_000355	P45379	TNNT2_HUMAN			12	640	-			191					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	ENST00000509001.1	37	c.571A>G	CCDS30969.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529498	0.64860	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742	D;D;D;D;D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	4.9	4.9	0.64082	.	0.155371	0.56097	D	0.000022	D	0.90563	0.7042	M	0.79011	2.435	0.43947	D	0.996613	P;D;D;D;D;D	0.69078	0.932;0.993;0.993;0.995;0.997;0.996	D;D;D;D;D;D	0.80764	0.949;0.981;0.99;0.994;0.994;0.99	D	0.91899	0.5530	10	0.87932	D	0	-46.9158	14.5231	0.67867	0.0:0.0:0.0:1.0	.	176;193;190;191;181;191	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	V	181;181;193;183;186;181;181;176;177;122;151;181;176	ENSP00000356291:M181V;ENSP00000356287:M181V;ENSP00000387874:M193V;ENSP00000404134:M183V;ENSP00000236918:M186V;ENSP00000356286:M181V;ENSP00000356284:M181V;ENSP00000353535:M176V;ENSP00000356289:M151V;ENSP00000422031:M181V;ENSP00000414036:M176V	ENSP00000236918:M186V	M	-	1	0	TNNT2	199599076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.565000	0.45939	1.832000	0.53329	0.459000	0.35465	ATG		PASS	0.552	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		264	450	264	450	---	---	---	---
NUAK2	81788	broad.mit.edu	37	1	205272861	205272861	+	Missense_Mutation	SNP	C	C	G	rs563402132		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:205272861C>G	ENST00000367157.3	-	7	1730	c.1604G>C	c.(1603-1605)cGg>cCg	p.R535P		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.R535P(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCGGCTGGCCCGGGCCAGGGG	0.657																																						uc001hce.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|stomach(1)|breast(1)	5						c.(1603-1605)CGG>CCG		NUAK family, SNF1-like kinase, 2							21.0	29.0	26.0					1																	205272861		2164	4269	6433	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205272861C>G	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1604G>C	1.37:g.205272861C>G	ENSP00000356125:p.Arg535Pro						p.R535P	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1731	-	Breast(84;0.186)		535						Missense_Mutation	SNP	ENST00000367157.3	37	c.1604G>C	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	2.912	-0.225155	0.06022	.	.	ENSG00000163545	ENST00000367157	T	0.73575	-0.76	4.86	1.88	0.25563	.	0.569158	0.14562	N	0.311983	T	0.51261	0.1664	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.38628	-0.9652	10	0.42905	T	0.14	.	7.414	0.27034	0.0:0.525:0.3175:0.1575	.	535	Q9H093	NUAK2_HUMAN	P	535	ENSP00000356125:R535P	ENSP00000356125:R535P	R	-	2	0	NUAK2	203539484	.	.	0.207000	0.23584	0.083000	0.17756	.	.	0.103000	0.17682	-0.513000	0.04457	CGG		PASS	0.657	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		47	69	47	69	---	---	---	---
IKBKE	9641	broad.mit.edu	37	1	206647710	206647710	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:206647710A>G	ENST00000367120.3	+	4	497	c.124A>G	c.(124-126)Act>Gct	p.T42A	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.T42A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGTCTTCAACACTACCAGCTA	0.577																																						uc001hdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(124-126)ACT>GCT		IKK-related kinase epsilon							80.0	66.0	71.0					1																	206647710		2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206647710A>G	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.124A>G	1.37:g.206647710A>G	ENSP00000356087:p.Thr42Ala					IKBKE_uc009xbu.1_Missense_Mutation_p.T42A|IKBKE_uc009xbv.1_Missense_Mutation_p.T42A|IKBKE_uc001hea.1_5'UTR	p.T42A	NM_014002	NP_054721	Q14164	IKKE_HUMAN			4	492	+	Breast(84;0.137)		42			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.124A>G	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	A	4.739	0.137460	0.09032	.	.	ENSG00000143466	ENST00000367120	T	0.41065	1.01	5.25	1.17	0.20885	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.028080	0.07651	N	0.931881	T	0.25494	0.0620	N	0.16903	0.455	0.42146	D	0.991537	B	0.12013	0.005	B	0.17433	0.018	T	0.07751	-1.0756	10	0.33141	T	0.24	0.0913	5.1299	0.14905	0.6924:0.0:0.1449:0.1628	.	42	Q14164	IKKE_HUMAN	A	42	ENSP00000356087:T42A	ENSP00000356087:T42A	T	+	1	0	IKBKE	204714333	0.120000	0.22244	0.077000	0.20336	0.093000	0.18481	0.884000	0.28214	-0.079000	0.12707	-0.441000	0.05720	ACT		PASS	0.577	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			31	130	31	130	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226924704	226924704	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:226924704C>T	ENST00000272117.3	-	1	455	c.456G>A	c.(454-456)gcG>gcA	p.A152A	ITPKB_ENST00000429204.1_Silent_p.A152A|ITPKB_ENST00000366784.1_Silent_p.A152A			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	152					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.A152A(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTGGATGTGCGCCTCAAACA	0.667																																					Colon(84;110 1851 5306 33547)	uc010pvo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(454-456)GCG>GCA		1D-myo-inositol-trisphosphate 3-kinase B							80.0	81.0	81.0					1																	226924704		2196	4283	6479	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924704C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.456G>A	1.37:g.226924704C>T						ITPKB_uc001hqh.2_Silent_p.A152A	p.A152A	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	796	-		Prostate(94;0.0773)	152					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.456G>A	CCDS1555.1																																																																																				PASS	0.667	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		6	324	6	324	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229633923	229633923	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:229633923G>A	ENST00000261396.3	-	6	870	c.779C>T	c.(778-780)tCt>tTt	p.S260F	NUP133_ENST00000537506.1_Missense_Mutation_p.S244F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	260					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.S260F(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AAAAAGAGAAGAAACTTTTCG	0.353																																						uc001htn.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(778-780)TCT>TTT		nucleoporin 133kDa							60.0	62.0	61.0					1																	229633923		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229633923G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.779C>T	1.37:g.229633923G>A	ENSP00000261396:p.Ser260Phe						p.S260F	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			6	871	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	260					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.779C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263539	0.59431	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.33216	1.42;1.42;1.42	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58132	-0.7690	10	0.52906	T	0.07	-6.4796	19.8604	0.96781	0.0:0.0:1.0:0.0	.	260	Q8WUM0	NU133_HUMAN	F	260;260;260;244	ENSP00000261396:S260F;ENSP00000355640:S260F;ENSP00000443496:S244F	ENSP00000261396:S260F	S	-	2	0	NUP133	227700546	1.000000	0.71417	0.939000	0.37840	0.101000	0.19017	7.960000	0.87893	2.699000	0.92147	0.650000	0.86243	TCT		PASS	0.353	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		12	150	12	150	---	---	---	---
ZNF496	84838	broad.mit.edu	37	1	247464543	247464543	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr1:247464543C>G	ENST00000294753.4	-	9	1506	c.1042G>C	c.(1042-1044)Gat>Cat	p.D348H	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.D384H	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	348					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D348H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTTCTTCATCCAGGCTGTTC	0.607																																						uc001ico.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1042-1044)GAT>CAT		zinc finger protein 496							69.0	77.0	74.0					1																	247464543		2152	4217	6369	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247464543C>G	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1042G>C	1.37:g.247464543C>G	ENSP00000294753:p.Asp348His					ZNF496_uc009xgv.2_Missense_Mutation_p.D384H|ZNF496_uc001icp.2_Missense_Mutation_p.D348H	p.D348H	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		9	1507	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		348					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.1042G>C	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481897	0.44147	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07444	3.21;3.19	4.65	2.55	0.30701	.	0.711351	0.13171	N	0.408301	T	0.12390	0.0301	L	0.27053	0.805	0.09310	N	1	D;P	0.57571	0.98;0.697	P;B	0.58130	0.833;0.274	T	0.18493	-1.0335	10	0.46703	T	0.11	-9.9768	8.9891	0.36012	0.0:0.8003:0.0:0.1997	.	384;348	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	H	348;384	ENSP00000294753:D348H;ENSP00000355454:D384H	ENSP00000294753:D348H	D	-	1	0	ZNF496	245531166	0.000000	0.05858	0.024000	0.17045	0.011000	0.07611	-0.242000	0.08928	0.571000	0.29365	-0.140000	0.14226	GAT		PASS	0.607	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		31	134	31	134	---	---	---	---
CMPK2	129607	broad.mit.edu	37	2	7005270	7005270	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:7005270C>A	ENST00000256722.5	-	1	557	c.558G>T	c.(556-558)caG>caT	p.Q186H	CMPK2_ENST00000404168.1_Missense_Mutation_p.Q186H|CMPK2_ENST00000458098.1_Missense_Mutation_p.Q186H|CMPK2_ENST00000478738.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	186					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)	p.Q186H(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CGCAGCCCACCTGCAGCCGCC	0.736																																						uc002qyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)CAG>CAT		UMP-CMP kinase 2 precursor							3.0	4.0	3.0					2																	7005270		1618	3614	5232	SO:0001583	missense	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:7005270C>A		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.558G>T	2.37:g.7005270C>A	ENSP00000256722:p.Gln186His					CMPK2_uc010yis.1_Missense_Mutation_p.Q186H|CMPK2_uc010ewv.2_Missense_Mutation_p.Q186H	p.Q186H	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN			1	667	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		186					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	ENST00000256722.5	37	c.558G>T	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042383	0.35989	.	.	ENSG00000134326	ENST00000458098;ENST00000256722;ENST00000404168	T	0.49139	0.79	4.43	3.53	0.40419	.	0.377447	0.26658	N	0.023169	T	0.33118	0.0852	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.003	T	0.32981	-0.9886	10	0.66056	D	0.02	-15.0787	11.9274	0.52827	0.0:0.8226:0.1774:0.0	.	186;186	Q5EBM0-3;Q5EBM0	.;CMPK2_HUMAN	H	186	ENSP00000256722:Q186H	ENSP00000256722:Q186H	Q	-	3	2	CMPK2	6922721	0.003000	0.15002	0.010000	0.14722	0.195000	0.23768	0.488000	0.22371	1.023000	0.39654	0.563000	0.77884	CAG		PASS	0.736	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		2	1	2	1	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37241027	37241027	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:37241027G>A	ENST00000233099.5	-	27	4336	c.4241C>T	c.(4240-4242)gCc>gTc	p.A1414V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1414V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1414						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.A1414V(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATGGTCGTGGCACTCTCTCG	0.443																																						uc002rpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(4240-4242)GCC>GTC		HEAT repeat containing 5B							146.0	139.0	141.0					2																	37241027		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37241027G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4241C>T	2.37:g.37241027G>A	ENSP00000233099:p.Ala1414Val					HEATR5B_uc010ezy.1_5'UTR|HEATR5B_uc002rpq.3_5'UTR	p.A1414V	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			27	4337	-		all_hematologic(82;0.21)	1414					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.4241C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431246	0.83776	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.64991	-0.13;-0.13	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.70595	2.14	0.80722	D	1	P	0.44429	0.835	P	0.45856	0.495	T	0.70995	-0.4720	10	0.48119	T	0.1	-9.7578	19.8791	0.96888	0.0:0.0:1.0:0.0	.	1414	Q9P2D3	HTR5B_HUMAN	V	1414	ENSP00000233099:A1414V;ENSP00000346531:A1414V	ENSP00000233099:A1414V	A	-	2	0	HEATR5B	37094531	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	9.624000	0.98398	2.706000	0.92434	0.467000	0.42956	GCC		PASS	0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		5	324	5	324	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43927291	43927291	+	Silent	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:43927291A>T	ENST00000282406.4	+	8	1304	c.1194A>T	c.(1192-1194)tcA>tcT	p.S398S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	398	Poly-Ser.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.S398S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCGATTATTCATCTTCATCGA	0.403																																						uc010yny.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1192-1194)TCA>TCT		pleckstrin homology domain containing, family H							74.0	71.0	72.0					2																	43927291		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43927291A>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1194A>T	2.37:g.43927291A>T						PLEKHH2_uc002rte.3_Silent_p.S398S|PLEKHH2_uc002rtf.3_Silent_p.S397S	p.S398S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			8	1277	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	398			Poly-Ser.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.1194A>T	CCDS1812.1																																																																																				PASS	0.403	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		57	152	57	152	---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44078792	44078792	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:44078792A>T	ENST00000272286.2	+	4	482	c.392A>T	c.(391-393)cAg>cTg	p.Q131L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	131	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.Q131L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAGTCAGGCCAGATCTGGATC	0.602																																						uc002rtq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(391-393)CAG>CTG		ATP-binding cassette sub-family G member 8							83.0	68.0	74.0					2																	44078792		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44078792A>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.392A>T	2.37:g.44078792A>T	ENSP00000272286:p.Gln131Leu					ABCG8_uc010yoa.1_Missense_Mutation_p.Q131L	p.Q131L	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			4	482	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	131			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.392A>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.014545	0.75161	.	.	ENSG00000143921	ENST00000272286	D	0.94046	-3.34	4.92	3.77	0.43336	ABC transporter-like (2);	0.478703	0.23678	N	0.045641	D	0.93465	0.7915	L	0.41415	1.275	0.37618	D	0.921197	D;D	0.67145	0.995;0.996	P;D	0.66084	0.881;0.941	D	0.92120	0.5703	10	0.34782	T	0.22	.	10.3828	0.44121	0.9227:0.0:0.0773:0.0	.	131;131	Q9H221-2;Q9H221	.;ABCG8_HUMAN	L	131	ENSP00000272286:Q131L	ENSP00000272286:Q131L	Q	+	2	0	ABCG8	43932296	0.996000	0.38824	0.943000	0.38184	0.963000	0.63663	5.687000	0.68219	0.742000	0.32697	0.533000	0.62120	CAG		PASS	0.602	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		19	71	19	71	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98928346	98928346	+	Missense_Mutation	SNP	G	G	T	rs375490199		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:98928346G>T	ENST00000477737.1	+	27	3790	c.3586G>T	c.(3586-3588)Gat>Tat	p.D1196Y	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1196								p.D1196Y(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGACACGCAGGATTCCAGAGA	0.602																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(3586-3588)GAT>TAT		von Willebrand factor A domain containing 3B							25.0	31.0	29.0					2																	98928346		1897	4111	6008	SO:0001583	missense	200403							g.chr2:98928346G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3586G>T	2.37:g.98928346G>T	ENSP00000417955:p.Asp1196Tyr					VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.D853Y|VWA3B_uc002syp.1_Missense_Mutation_p.D588Y|VWA3B_uc002syq.1_Missense_Mutation_p.D472Y|VWA3B_uc002syr.1_Missense_Mutation_p.D513Y|VWA3B_uc002sys.2_RNA	p.D1196Y	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			27	3850	+			1196					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3586G>T	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.63|12.63	1.995409|1.995409	0.35226|0.35226	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737;ENST00000358269|ENST00000473149	T|.	0.07114|.	3.22|.	3.89|3.89	1.0|1.0	0.19881|0.19881	.|.	.|.	.|.	.|.	.|.	T|T	0.18173|0.18173	0.0436|0.0436	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	B;B|.	0.11235|.	0.004;0.002|.	B;B|.	0.12156|.	0.007;0.003|.	T|T	0.22277|0.22277	-1.0221|-1.0221	9|5	0.21540|.	T|.	0.41|.	.|.	2.3692|2.3692	0.04326|0.04326	0.1088:0.1924:0.5:0.1987|0.1088:0.1924:0.5:0.1987	.|.	588;1196|.	Q502W6-5;Q502W6|.	.;VWA3B_HUMAN|.	Y|V	1196;318|606	ENSP00000417955:D1196Y|.	ENSP00000351009:D318Y|.	D|G	+|+	1|2	0|0	VWA3B|VWA3B	98294778|98294778	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.223000|0.223000	0.17719|0.17719	0.207000|0.207000	0.20607|0.20607	0.491000|0.491000	0.48974|0.48974	GAT|GGA		PASS	0.602	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		3	11	3	11	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125521710	125521710	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:125521710G>C	ENST00000431078.1	+	16	2880	c.2516G>C	c.(2515-2517)cGa>cCa	p.R839P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	839	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R839P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACTTCATTCGACTCGAAATA	0.373																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(2515-2517)CGA>CCA		contactin associated protein-like 5 precursor							103.0	98.0	99.0					2																	125521710		1831	4081	5912	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521710G>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2516G>C	2.37:g.125521710G>C	ENSP00000399013:p.Arg839Pro					CNTNAP5_uc010flu.2_Missense_Mutation_p.R840P	p.R839P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2880	+			839			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2516G>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511935	0.85389	.	.	ENSG00000155052	ENST00000431078	T	0.78246	-1.16	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.40385	N	0.001103	D	0.89897	0.6848	M	0.92219	3.285	0.80722	D	1	D	0.59767	0.986	P	0.59761	0.863	D	0.90958	0.4810	10	0.51188	T	0.08	.	18.9356	0.92584	0.0:0.0:1.0:0.0	.	839	Q8WYK1	CNTP5_HUMAN	P	839	ENSP00000399013:R839P	ENSP00000399013:R839P	R	+	2	0	CNTNAP5	125238180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.866000	0.87056	2.724000	0.93272	0.655000	0.94253	CGA		PASS	0.373	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			29	118	29	118	---	---	---	---
GPR39	2863	broad.mit.edu	37	2	133402883	133402883	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:133402883G>A	ENST00000329321.3	+	2	1535	c.1066G>A	c.(1066-1068)Gtg>Atg	p.V356M	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	356					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)|metal ion binding (GO:0046872)	p.V356M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGGGTGTTCGTGCAGGTGCT	0.627																																						uc002ttl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1066-1068)GTG>ATG		G protein-coupled receptor 39							62.0	59.0	60.0					2																	133402883		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402883G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1066G>A	2.37:g.133402883G>A	ENSP00000327417:p.Val356Met					LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	p.V356M	NM_001508	NP_001499	O43194	GPR39_HUMAN			2	1535	+			356			Cytoplasmic (Potential).		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1066G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292042	0.40594	.	.	ENSG00000183840	ENST00000329321	T	0.37584	1.19	5.3	-3.21	0.05140	.	1.531400	0.03773	N	0.260068	T	0.19967	0.0480	N	0.19112	0.55	0.22050	N	0.999397	B	0.30179	0.271	B	0.22880	0.042	T	0.15896	-1.0421	10	0.33940	T	0.23	.	5.3836	0.16206	0.0724:0.4856:0.1623:0.2797	.	356	O43194	GPR39_HUMAN	M	356	ENSP00000327417:V356M	ENSP00000327417:V356M	V	+	1	0	GPR39	133119353	0.000000	0.05858	0.095000	0.20976	0.987000	0.75469	-1.316000	0.02710	-0.199000	0.10317	0.650000	0.86243	GTG		PASS	0.627	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			17	49	17	49	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152382499	152382499	+	Silent	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:152382499G>C	ENST00000172853.10	-	122	17178	c.17031C>G	c.(17029-17031)gtC>gtG	p.V5677V	NEB_ENST00000603639.1_Silent_p.V7378V|NEB_ENST00000427231.2_Silent_p.V7378V|NEB_ENST00000409198.1_Silent_p.V5677V|NEB_ENST00000397345.3_Silent_p.V7378V|NEB_ENST00000604864.1_Silent_p.V7378V			P20929	NEBU_HUMAN	nebulin	5677					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V5677V(1)|p.V7378V(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACTTCCTTGACGTGAACAG	0.483																																						uc010fnx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(17029-17031)GTC>GTG		nebulin isoform 3							300.0	294.0	296.0					2																	152382499		2038	4201	6239	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152382499G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17031C>G	2.37:g.152382499G>C						NEB_uc002txr.2_Silent_p.V2100V|NEB_uc002txt.3_Silent_p.V182V	p.V5677V	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	122	17222	-			5677			Nebulin 155.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.17031C>G		.	.	.	.	.	.	.	.	.	.	G	10.01	1.234771	0.22626	.	.	ENSG00000183091	ENST00000434685	.	.	.	6.07	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0778	0.53653	0.0656:0.1214:0.813:0.0	.	.	.	.	X	1	.	.	S	-	2	0	NEB	152090745	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.792000	0.62467	1.582000	0.49881	0.655000	0.94253	TCA		PASS	0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		174	528	174	528	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166895938	166895938	+	Nonsense_Mutation	SNP	G	G	A	rs397514459		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:166895938G>A	ENST00000303395.4	-	14	2583	c.2584C>T	c.(2584-2586)Cga>Tga	p.R862*	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R851*|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R834*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.R862*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	862			R -> Q (in EIEE6; dbSNP:rs121918785). {ECO:0000269|PubMed:20110217}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R862*(1)|p.R851*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTACCAATCGAAATGAACGG	0.378																																						uc010zcz.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(2551-2553)CGA>TGA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						48.0	49.0	48.0					2																	166895938		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166895938G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2584C>T	2.37:g.166895938G>A	ENSP00000303540:p.Arg862*					SCN1A_uc002udo.3_Nonsense_Mutation_p.R731*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.R703*	p.R851*	NM_006920	NP_008851	P35498	SCN1A_HUMAN			14	2569	-			862			Helical; Voltage-sensor; Name=S4 of repeat II; (By similarity).|II.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.2551C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	39	7.368069	0.98241	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	4.75	2.63	0.31362	.	0.000000	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1035	0.65072	0.0:0.0:0.759:0.241	.	.	.	.	X	862;862;851;834	.	ENSP00000303540:R862X	R	-	1	2	SCN1A	166604184	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	0.630000	0.24553	1.032000	0.39892	0.650000	0.86243	CGA		PASS	0.378	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		33	71	33	71	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168107591	168107591	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:168107591G>C	ENST00000409195.1	+	9	9778	c.9689G>C	c.(9688-9690)cGt>cCt	p.R3230P	XIRP2_ENST00000295237.9_Missense_Mutation_p.R3230P|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3008P|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3055					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R3230P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAGAAACTCGTGGTAGGGAC	0.448																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(9688-9690)CGT>CCT		xin actin-binding repeat containing 2 isoform 1							62.0	59.0	60.0					2																	168107591		1882	4129	6011	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107591G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9689G>C	2.37:g.168107591G>C	ENSP00000386840:p.Arg3230Pro					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3055P|XIRP2_uc010fpq.2_Missense_Mutation_p.R3008P|XIRP2_uc010fpr.2_Intron	p.R3230P	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9707	+			3055					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9689G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546074	0.45383	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02682	4.2;4.2;4.2	5.03	5.03	0.67393	.	0.391598	0.29152	N	0.012985	T	0.11410	0.0278	M	0.65975	2.015	0.33665	D	0.610199	D;D;D	0.71674	0.997;0.998;0.998	P;D;D	0.65443	0.862;0.935;0.935	T	0.01195	-1.1422	10	0.66056	D	0.02	-11.2362	11.5298	0.50601	0.0856:0.0:0.9144:0.0	.	3055;3055;3008	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	P	3230;3230;3008;644	ENSP00000386840:R3230P;ENSP00000295237:R3230P;ENSP00000387255:R3008P	ENSP00000295237:R3230P	R	+	2	0	XIRP2	167815837	0.005000	0.15991	0.343000	0.25615	0.915000	0.54546	0.422000	0.21296	2.729000	0.93468	0.460000	0.39030	CGT		PASS	0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		56	150	56	150	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:178098960C>T	ENST00000397062.3	-	2	639	c.85G>A	c.(85-87)Gat>Aat	p.D29N	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13N|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13N|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13N|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13N	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		15	Substitution - Missense(15)		lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)	central_nervous_system(1)	1						c.(85-87)GAT>AAT		nuclear factor erythroid 2-like 2 isoform 1							66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098960C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>A	2.37:g.178098960C>T	ENSP00000380252:p.Asp29Asn	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.D13N|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13N|NFE2L2_uc002uli.3_Missense_Mutation_p.D13N|NFE2L2_uc010fra.2_Missense_Mutation_p.D13N|NFE2L2_uc010frb.2_Missense_Mutation_p.D13N	p.D29N	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	640	-			29					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.85G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739093	0.89573	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	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;0.996;0.998;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	N	13;29;13;13;13;13;13	ENSP00000380253:D13N;ENSP00000380252:D29N;ENSP00000411575:D13N;ENSP00000391590:D13N;ENSP00000400073:D13N;ENSP00000412191:D13N;ENSP00000410015:D13N	ENSP00000380252:D29N	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT		PASS	0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		18	85	18	85	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179404238	179404238	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:179404238C>T	ENST00000591111.1	-	302	93855	c.93631G>A	c.(93631-93633)Ggt>Agt	p.G31211S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000415561.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G32852S|TTN_ENST00000342175.6_Missense_Mutation_p.G23979S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G23912S|TTN_ENST00000460472.2_Missense_Mutation_p.G23787S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G30284S|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31211	Fibronectin type-III 127. {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.G23979S(1)|p.G23912S(1)|p.G30284S(1)|p.G30282S(1)|p.G23787S(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)			AGAGATGTACCTCGGACTCTG	0.468																																						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.(90850-90852)GGT>AGT		titin isoform N2-A							181.0	164.0	169.0					2																	179404238		1925	4133	6058	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404238C>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.93631G>A	2.37:g.179404238C>T	ENSP00000465570:p.Gly31211Ser					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G23979S|TTN_uc010zfi.1_Missense_Mutation_p.G23912S|TTN_uc010zfj.1_Missense_Mutation_p.G23787S	p.G30284S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		301	91074	-			31211					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.90850G>A		.	.	.	.	.	.	.	.	.	.	C	15.91	2.973091	0.53614	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.79	4.91	0.64330	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32224	0.0822	N	0.02985	-0.445	0.47374	D	0.9994	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.19666	0.026;0.026;0.026;0.026	T	0.24368	-1.0162	9	0.87932	D	0	.	15.1348	0.72555	0.0:0.9316:0.0:0.0684	.	23787;23912;23979;31211	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	30284;23787;23979;23912;23784	ENSP00000343764:G30284S;ENSP00000434586:G23787S;ENSP00000340554:G23979S;ENSP00000352154:G23912S	ENSP00000340554:G23979S	G	-	1	0	TTN	179112484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.970000	0.63742	2.739000	0.93911	0.655000	0.94253	GGT		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		104	315	104	315	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179417151	179417151	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:179417151G>C	ENST00000591111.1	-	285	85777	c.85553C>G	c.(85552-85554)cCc>cGc	p.P28518R	TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P30159R|TTN_ENST00000342175.6_Missense_Mutation_p.P21286R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21219R|TTN_ENST00000460472.2_Missense_Mutation_p.P21094R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P27591R|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28518	Ig-like 132.				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.P27591R(1)|p.P21286R(1)|p.P21094R(1)|p.P27589R(1)|p.P21219R(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)			GGATGGTTTGGGTTTTCCCTT	0.398																																						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.(82771-82773)CCC>CGC		titin isoform N2-A							86.0	81.0	83.0					2																	179417151		1861	4116	5977	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417151G>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.85553C>G	2.37:g.179417151G>C	ENSP00000465570:p.Pro28518Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21286R|TTN_uc010zfi.1_Missense_Mutation_p.P21219R|TTN_uc010zfj.1_Missense_Mutation_p.P21094R	p.P27591R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	82996	-			28518					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.82772C>G		.	.	.	.	.	.	.	.	.	.	G	16.82	3.229862	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91928	0.7444	H	0.97707	4.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93885	0.7174	9	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	21094;21219;21286;28518	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	27591;21094;21286;21219;21091	ENSP00000343764:P27591R;ENSP00000434586:P21094R;ENSP00000340554:P21286R;ENSP00000352154:P21219R	ENSP00000340554:P21286R	P	-	2	0	TTN	179125397	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CCC		PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	66	35	66	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179593713	179593713	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:179593713A>C	ENST00000591111.1	-	63	18325	c.18101T>G	c.(18100-18102)aTc>aGc	p.I6034S	TTN_ENST00000589042.1_Missense_Mutation_p.I6351S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I5107S			Q8WZ42	TITIN_HUMAN	titin	12825	Ig-like 41.				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.I5107S(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)			CACACTTCTGATTTGAAGTGT	0.398																																						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.(15319-15321)ATC>AGC		titin isoform N2-A							66.0	60.0	62.0					2																	179593713		1880	4118	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593713A>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.18101T>G	2.37:g.179593713A>C	ENSP00000465570:p.Ile6034Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I1768S	p.I5107S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		62	15544	-			6034					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.15320T>G		.	.	.	.	.	.	.	.	.	.	A	7.652	0.683117	0.14907	.	.	ENSG00000155657	ENST00000342992	T	0.79749	-1.3	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91442	0.7299	H	0.98388	4.22	0.80722	D	1	P	0.35363	0.497	P	0.44623	0.455	D	0.93097	0.6505	9	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	6034	Q8WZ42	TITIN_HUMAN	S	5107	ENSP00000343764:I5107S	ENSP00000343764:I5107S	I	-	2	0	TTN	179301958	1.000000	0.71417	0.994000	0.49952	0.255000	0.26057	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	ATC		PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	29	10	29	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179640118	179640118	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:179640118C>A	ENST00000591111.1	-	28	6697	c.6473G>T	c.(6472-6474)gGa>gTa	p.G2158V	RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G2158V|TTN_ENST00000342175.6_Missense_Mutation_p.G2112V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G2112V|TTN_ENST00000460472.2_Missense_Mutation_p.G2112V|TTN_ENST00000360870.5_Missense_Mutation_p.G2158V|TTN_ENST00000342992.6_Missense_Mutation_p.G2158V			Q8WZ42	TITIN_HUMAN	titin	12487	Ig-like 10.				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.G2158V(3)|p.G2112V(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGGTTTCTCCAGCTATGTT	0.428																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(6472-6474)GGA>GTA		titin isoform N2-A							103.0	95.0	98.0					2																	179640118		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640118C>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.6473G>T	2.37:g.179640118C>A	ENSP00000465570:p.Gly2158Val					TTN_uc010zfh.1_Missense_Mutation_p.G2112V|TTN_uc010zfi.1_Missense_Mutation_p.G2112V|TTN_uc010zfj.1_Missense_Mutation_p.G2112V|TTN_uc002unb.2_Missense_Mutation_p.G2158V|uc002unc.1_5'Flank	p.G2158V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6697	-			2158					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.6473G>T		.	.	.	.	.	.	.	.	.	.	C	11.76	1.736026	0.30774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94538	0.8241	H	0.96996	3.92	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	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96266	0.9195	9	0.87932	D	0	.	18.8847	0.92372	0.0:1.0:0.0:0.0	.	2112;2112;2112;2158;2158	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2158;2112;2112;2112;2112;2158	ENSP00000343764:G2158V;ENSP00000434586:G2112V;ENSP00000340554:G2112V;ENSP00000352154:G2112V;ENSP00000354117:G2158V	ENSP00000340554:G2112V	G	-	2	0	TTN	179348363	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.792000	0.85828	2.468000	0.83385	0.655000	0.94253	GGA		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		54	131	54	131	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179664351	179664351	+	Silent	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:179664351C>A	ENST00000591111.1	-	6	1001	c.777G>T	c.(775-777)ccG>ccT	p.P259P	TTN_ENST00000589042.1_Silent_p.P259P|TTN_ENST00000342175.6_Silent_p.P259P|TTN_ENST00000359218.5_Silent_p.P259P|TTN_ENST00000460472.2_Silent_p.P259P|TTN_ENST00000360870.5_Silent_p.P259P|TTN_ENST00000342992.6_Silent_p.P259P			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.				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.P259P(6)		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)			ACTTTGGCTTCGGAGGAATCC	0.552																																						uc002und.2																			6	Substitution - coding silent(6)	p.R256_K260>K(1)	lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(775-777)CCG>CCT		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							118.0	112.0	114.0					2																	179664351		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664351C>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.777G>T	2.37:g.179664351C>A						TTN_uc010zfg.1_Silent_p.P259P|TTN_uc010zfh.1_Silent_p.P259P|TTN_uc010zfi.1_Silent_p.P259P|TTN_uc010zfj.1_Silent_p.P259P|TTN_uc002unb.2_Silent_p.P259P	p.P259P			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		6	1002	-			259					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.777G>T																																																																																					PASS	0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	102	33	102	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212812269	212812269	+	Missense_Mutation	SNP	G	G	A	rs201152419		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:212812269G>A	ENST00000342788.4	-	3	617	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	ERBB4_ENST00000436443.1_Missense_Mutation_p.R103C|ERBB4_ENST00000402597.1_Missense_Mutation_p.R103C|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	103					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R103C(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CGAATAATGCGTAAATTCTCC	0.398										TSP Lung(8;0.080)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17472	0.0		0.001	False		,,,				2504	0.0					uc002veg.1																			1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(307-309)CGC>TGC		v-erb-a erythroblastic leukemia viral oncogene							97.0	91.0	93.0					2																	212812269		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212812269G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.307C>T	2.37:g.212812269G>A	ENSP00000342235:p.Arg103Cys	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.R103C|ERBB4_uc010zji.1_Missense_Mutation_p.R103C|ERBB4_uc010zjj.1_Missense_Mutation_p.R103C|ERBB4_uc010fut.1_Missense_Mutation_p.R103C	p.R103C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	3	405	-		Renal(323;0.06)|Lung NSC(271;0.197)	103			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.307C>T	CCDS2394.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.7	4.445208	0.83993	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.54	5.54	0.83059	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	M	0.92604	3.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.95378	0.8470	10	0.87932	D	0	.	19.4961	0.95073	0.0:0.0:1.0:0.0	.	103;103;103;103	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	C	103;103;103;44	ENSP00000342235:R103C;ENSP00000403204:R103C;ENSP00000385565:R103C;ENSP00000405564:R44C	ENSP00000342235:R103C	R	-	1	0	ERBB4	212520514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.450000	0.66626	2.601000	0.87937	0.557000	0.71058	CGC		PASS	0.398	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		17	70	17	70	---	---	---	---
IKZF2	22807	broad.mit.edu	37	2	213921707	213921707	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:213921707C>T	ENST00000434687.1	-	5	565	c.256G>A	c.(256-258)Gag>Aag	p.E86K	IKZF2_ENST00000413091.3_Missense_Mutation_p.E86K|IKZF2_ENST00000451136.2_Missense_Mutation_p.E86K|IKZF2_ENST00000374319.4_Missense_Mutation_p.E86K|IKZF2_ENST00000457361.1_Missense_Mutation_p.E86K|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.E86K|IKZF2_ENST00000342002.2_Missense_Mutation_p.E92K			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	86					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E86K(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCGCTGCTCTCAATTAGGGGT	0.522																																						uc002vem.2																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)GAG>AAG		helios isoform 1							118.0	108.0	111.0					2																	213921707		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213921707C>T	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.256G>A	2.37:g.213921707C>T	ENSP00000412869:p.Glu86Lys					IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.E33K|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.E86K|IKZF2_uc002vel.2_Missense_Mutation_p.E33K|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_Intron|IKZF2_uc010fuy.2_Missense_Mutation_p.E86K|IKZF2_uc002ven.2_Missense_Mutation_p.E86K	p.E86K	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	4	425	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	86					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.256G>A	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804497	0.70682	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091;ENST00000433134	T;T;T;T;T;T;T;T	0.48201	3.14;3.11;3.14;3.26;3.21;3.29;3.19;0.82	6.02	6.02	0.97574	.	0.165057	0.41823	D	0.000808	T	0.40595	0.1123	L	0.33485	1.01	0.53005	D	0.999965	B;P;B;P	0.39480	0.275;0.675;0.004;0.605	B;B;B;B	0.35550	0.076;0.205;0.004;0.146	T	0.14868	-1.0457	10	0.33940	T	0.23	-1.646	20.5373	0.99239	0.0:1.0:0.0:0.0	.	86;86;86;86	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	K	86;92;86;86;86;86;86;92	ENSP00000410447:E86K;ENSP00000342876:E92K;ENSP00000412869:E86K;ENSP00000363439:E86K;ENSP00000395203:E86K;ENSP00000399574:E86K;ENSP00000402334:E86K;ENSP00000406783:E92K	ENSP00000342876:E92K	E	-	1	0	IKZF2	213629952	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.569000	0.82380	2.857000	0.98124	0.650000	0.86243	GAG		PASS	0.522	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		65	193	65	193	---	---	---	---
VWC2L	402117	broad.mit.edu	37	2	215301452	215301452	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:215301452C>G	ENST00000312504.5	+	3	1292	c.490C>G	c.(490-492)Cca>Gca	p.P164A	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Intron	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	164	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.P164A(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						AGTCTATGAACCAGAACAATG	0.463																																						uc002vet.2																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)CCA>GCA		von Willebrand factor C domain-containing							109.0	105.0	107.0					2																	215301452		1991	4162	6153	SO:0001583	missense	402117					extracellular region		g.chr2:215301452C>G	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.490C>G	2.37:g.215301452C>G	ENSP00000308976:p.Pro164Ala					VWC2L_uc010zjl.1_Intron	p.P164A	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			3	620	+			164			VWFC 2.		A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	c.490C>G	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175468	0.94807	.	.	ENSG00000174453	ENST00000312504	T	0.13089	2.62	6.16	6.16	0.99307	von Willebrand factor, type C (3);	.	.	.	.	T	0.42921	0.1224	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.07083	-1.0791	9	0.54805	T	0.06	-0.9139	20.8598	0.99761	0.0:1.0:0.0:0.0	.	164	B2RUY7	VWC2L_HUMAN	A	164	ENSP00000308976:P164A	ENSP00000308976:P164A	P	+	1	0	VWC2L	215009697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCA		PASS	0.463	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		20	110	20	110	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220167082	220167082	+	Silent	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:220167082A>G	ENST00000295718.2	-	6	1011	c.771T>C	c.(769-771)ccT>ccC	p.P257P	PTPRN_ENST00000409251.3_Silent_p.P257P|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.P167P	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	257					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P257P(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGGAGTGGCCAGGGTGGTCCC	0.637																																						uc002vkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(769-771)CCT>CCC		protein tyrosine phosphatase, receptor type, N							23.0	25.0	24.0					2																	220167082		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220167082A>G		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.771T>C	2.37:g.220167082A>G						PTPRN_uc010zlc.1_Silent_p.P167P|PTPRN_uc002vla.2_Silent_p.P257P	p.P257P	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	6	860	-		Renal(207;0.0474)	257			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.771T>C	CCDS2440.1																																																																																				PASS	0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			13	27	13	27	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220312995	220312995	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:220312995G>T	ENST00000312358.7	+	4	1247	c.1115G>T	c.(1114-1116)cGa>cTa	p.R372L	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.R268L	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	372					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R372L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCGGAATCCCGACCCCAGACG	0.697																																						uc010fwg.2																			1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(1114-1116)CGA>CTA		SPEG complex locus							12.0	15.0	14.0					2																	220312995		1890	4066	5956	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220312995G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.1115G>T	2.37:g.220312995G>T	ENSP00000311684:p.Arg372Leu					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	p.R372L	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	4	1115	+		Renal(207;0.0183)	372					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.1115G>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331661	0.60853	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000431523;ENST00000396698	T;T;T	0.72167	-0.63;-0.19;-0.4	4.99	4.99	0.66335	.	0.000000	0.36740	N	0.002429	T	0.76933	0.4057	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80450	-0.1377	10	0.72032	D	0.01	.	17.9041	0.88913	0.0:0.0:1.0:0.0	.	372	Q15772	SPEG_HUMAN	L	372;372;219;268	ENSP00000311684:R372L;ENSP00000410986:R219L;ENSP00000379926:R268L	ENSP00000265327:R372L	R	+	2	0	SPEG	220021239	1.000000	0.71417	0.987000	0.45799	0.012000	0.07955	8.662000	0.91130	2.307000	0.77673	0.563000	0.77884	CGA		PASS	0.697	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		13	33	13	33	---	---	---	---
GMPPA	29926	broad.mit.edu	37	2	220371037	220371037	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:220371037G>T	ENST00000358215.3	+	12	1424	c.1055G>T	c.(1054-1056)cGc>cTc	p.R352L	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.R405L|GMPPA_ENST00000341142.3_Missense_Mutation_p.R352L|GMPPA_ENST00000373908.1_Missense_Mutation_p.R352L|GMPPA_ENST00000313597.5_Missense_Mutation_p.R352L	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	352					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)	p.R352L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CGCTGGGCCCGCGTGGAGGGT	0.627																																						uc002vlr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1054-1056)CGC>CTC		GDP-mannose pyrophosphorylase A							71.0	71.0	71.0					2																	220371037		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220371037G>T	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1055G>T	2.37:g.220371037G>T	ENSP00000350949:p.Arg352Leu					GMPPA_uc002vls.2_Missense_Mutation_p.R352L|GMPPA_uc002vlt.2_Missense_Mutation_p.R405L|GMPPA_uc002vlu.2_Missense_Mutation_p.R405L|GMPPA_uc002vlv.2_Missense_Mutation_p.R352L|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.R352L	p.R352L	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	12	1123	+		Renal(207;0.0183)	352					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.1055G>T	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221737	0.95139	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.23950	1.9;1.88;1.9;1.9;1.9	4.5	4.5	0.54988	.	0.062575	0.64402	D	0.000010	T	0.63248	0.2495	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.76724	-0.2854	10	0.87932	D	0	-7.9735	16.8215	0.85747	0.0:0.0:1.0:0.0	.	405;352	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	L	352;405;352;352;352	ENSP00000315925:R352L;ENSP00000363027:R405L;ENSP00000350949:R352L;ENSP00000363016:R352L;ENSP00000340760:R352L	ENSP00000315925:R352L	R	+	2	0	GMPPA	220079281	1.000000	0.71417	0.907000	0.35723	0.971000	0.66376	9.690000	0.98676	2.039000	0.60335	0.557000	0.71058	CGC		PASS	0.627	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		49	133	49	133	---	---	---	---
C2orf57	165100	broad.mit.edu	37	2	232458559	232458559	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr2:232458559C>T	ENST00000313965.2	+	1	985	c.897C>T	c.(895-897)acC>acT	p.T299T		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	299								p.T299T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGTCCGAGACCACCATGGGCA	0.647																																						uc002vrz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(895-897)ACC>ACT		hypothetical protein LOC165100							51.0	55.0	54.0					2																	232458559		2203	4300	6503	SO:0001819	synonymous_variant	165100							g.chr2:232458559C>T	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.897C>T	2.37:g.232458559C>T							p.T299T	NM_152614	NP_689827	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	948	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	299					Q8N4F2	Silent	SNP	ENST00000313965.2	37	c.897C>T	CCDS2487.1																																																																																				PASS	0.647	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		33	154	33	154	---	---	---	---
KLHL18	23276	broad.mit.edu	37	3	47378109	47378109	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:47378109G>C	ENST00000232766.5	+	7	1003	c.983G>C	c.(982-984)cGc>cCc	p.R328P	KLHL18_ENST00000455924.2_Missense_Mutation_p.R216P	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	328								p.R328P(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GCCCGCAGCCGCGTTGGCGTG	0.572																																						uc003crd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(982-984)CGC>CCC		kelch-like 18							64.0	60.0	61.0					3																	47378109		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47378109G>C	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.983G>C	3.37:g.47378109G>C	ENSP00000232766:p.Arg328Pro					KLHL18_uc003crc.2_Missense_Mutation_p.R328P|KLHL18_uc011bav.1_Missense_Mutation_p.R216P|KLHL18_uc010hjq.1_Missense_Mutation_p.R184P	p.R328P	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	7	1109	+		Acute lymphoblastic leukemia(5;0.164)	328			Kelch 1.		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.983G>C	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237826	0.95240	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.77750	-1.12;-1.12	5.43	5.43	0.79202	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.88966	0.6581	M	0.82193	2.58	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.949	D;D;P	0.74674	0.949;0.984;0.673	D	0.89808	0.3980	10	0.59425	D	0.04	.	18.2324	0.89938	0.0:0.0:1.0:0.0	.	184;328;263	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	P	328;216	ENSP00000232766:R328P;ENSP00000405585:R216P	ENSP00000232766:R328P	R	+	2	0	KLHL18	47353113	1.000000	0.71417	0.974000	0.42286	0.947000	0.59692	9.784000	0.99039	2.559000	0.86315	0.561000	0.74099	CGC		PASS	0.572	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		24	42	24	42	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48604596	48604596	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:48604596C>A	ENST00000328333.8	-	109	8181	c.8074G>T	c.(8074-8076)Ggc>Tgc	p.G2692C	COL7A1_ENST00000470076.1_5'Flank|COL7A1_ENST00000454817.1_Missense_Mutation_p.G2660C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2692	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2692C(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTTGGGGCCTGGCTGCCCG	0.597																																						uc003ctz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(8074-8076)GGC>TGC		alpha 1 type VII collagen precursor							113.0	99.0	103.0					3																	48604596		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48604596C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8074G>T	3.37:g.48604596C>A	ENSP00000332371:p.Gly2692Cys						p.G2692C	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	109	8075	-			2692			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.8074G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601936	0.46423	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99637	-6.29;-6.29	4.84	4.84	0.62591	.	0.000000	0.39615	N	0.001317	D	0.99809	0.9917	H	0.98594	4.275	0.53688	D	0.999976	D	0.89917	1.0	D	0.97110	1.0	D	0.96637	0.9471	10	0.87932	D	0	.	16.126	0.81395	0.0:1.0:0.0:0.0	.	2692	Q02388	CO7A1_HUMAN	C	2692;2660	ENSP00000332371:G2692C;ENSP00000412569:G2660C	ENSP00000332371:G2692C	G	-	1	0	COL7A1	48579600	1.000000	0.71417	0.769000	0.31535	0.887000	0.51463	7.116000	0.77119	2.236000	0.73375	0.563000	0.77884	GGC		PASS	0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		46	110	46	110	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100645170	100645170	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:100645170C>T	ENST00000284322.5	-	2	365	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	ABI3BP_ENST00000495063.1_Missense_Mutation_p.G86R|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000471714.1_Missense_Mutation_p.G86R	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	86					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.G86R(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTGAATTTCCCTTCAGCGGGA	0.478																																						uc003dun.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(256-258)GGG>AGG		ABI gene family, member 3 (NESH) binding protein							121.0	113.0	115.0					3																	100645170		1881	4094	5975	SO:0001583	missense	25890					extracellular space		g.chr3:100645170C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.256G>A	3.37:g.100645170C>T	ENSP00000284322:p.Gly86Arg					ABI3BP_uc003duo.2_Missense_Mutation_p.G79R|ABI3BP_uc003dup.3_Missense_Mutation_p.G79R	p.G86R	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			2	341	-			86					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.256G>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542260	0.85917	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T	0.34667	1.35;1.66	5.79	4.92	0.64577	.	0.193249	0.56097	D	0.000035	T	0.48537	0.1505	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.986	D;D;P	0.69479	0.953;0.964;0.843	T	0.49862	-0.8894	10	0.56958	D	0.05	-10.0906	15.3691	0.74548	0.1404:0.8596:0.0:0.0	.	79;86;86	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	R	86	ENSP00000420524:G86R;ENSP00000284322:G86R	ENSP00000284322:G86R	G	-	1	0	ABI3BP	102127860	1.000000	0.71417	0.402000	0.26371	0.073000	0.16967	6.244000	0.72391	1.437000	0.47472	0.650000	0.86243	GGG		PASS	0.478	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			133	77	133	77	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107447803	107447803	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:107447803G>T	ENST00000325805.8	+	6	884	c.597G>T	c.(595-597)atG>atT	p.M199I	BBX_ENST00000402543.1_Missense_Mutation_p.M199I|BBX_ENST00000406780.1_Missense_Mutation_p.M199I|BBX_ENST00000415149.2_Missense_Mutation_p.M199I|BBX_ENST00000416476.2_Missense_Mutation_p.M199I			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	199					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M199I(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACTTTGGAATGGCTGGTGAGT	0.443																																						uc010hpr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(595-597)ATG>ATT		HMG-BOX transcription factor BBX isoform 1							132.0	138.0	136.0					3																	107447803		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107447803G>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.597G>T	3.37:g.107447803G>T	ENSP00000319974:p.Met199Ile					BBX_uc003dwk.3_Missense_Mutation_p.M199I|BBX_uc003dwl.3_Missense_Mutation_p.M199I|BBX_uc010hps.1_Missense_Mutation_p.M220I|BBX_uc003dwm.3_Missense_Mutation_p.M199I	p.M199I	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		6	924	+			199					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.597G>T	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859212	0.51376	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000416476;ENST00000456419;ENST00000402163;ENST00000406780	D;D;D;D;D;D;D	0.98649	-4.59;-4.6;-4.59;-4.97;-5.03;-5.05;-4.59	6.03	3.29	0.37713	HMG box transcription factor BBX, domain of unknown function DUF2028 (1);	0.066337	0.85682	D	0.000000	D	0.93706	0.7989	N	0.12182	0.205	0.49915	D	0.999833	B;B;B;B	0.31383	0.008;0.031;0.321;0.001	B;B;B;B	0.26094	0.023;0.032;0.066;0.002	D	0.90514	0.4483	10	0.39692	T	0.17	-4.0217	6.6267	0.22833	0.1963:0.0:0.6792:0.1245	.	199;199;199;199	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	I	199;50;199;199;199;199;199;199	ENSP00000408358:M199I;ENSP00000385317:M199I;ENSP00000319974:M199I;ENSP00000403860:M199I;ENSP00000413274:M199I;ENSP00000385518:M199I;ENSP00000385530:M199I	ENSP00000319742:M50I	M	+	3	0	BBX	108930493	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.269000	0.58890	0.901000	0.36495	-0.136000	0.14681	ATG		PASS	0.443	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		120	698	120	698	---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122634307	122634307	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:122634307G>A	ENST00000357599.3	-	14	2354	c.1968C>T	c.(1966-1968)atC>atT	p.I656I	SEMA5B_ENST00000195173.4_Silent_p.I656I|SEMA5B_ENST00000451055.2_Silent_p.I710I	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	656					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I656I(1)|p.I710I(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)		TGGCGATGTGGATGGCTGGCC	0.607																																						uc003efz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(1966-1968)ATC>ATT		semaphorin 5B isoform 1							67.0	64.0	65.0					3																	122634307		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122634307G>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.1968C>T	3.37:g.122634307G>A						SEMA5B_uc011bju.1_Silent_p.I598I|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.I656I|SEMA5B_uc010hro.1_Silent_p.I598I	p.I656I	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	14	2272	-			656			Extracellular (Potential).		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.1968C>T	CCDS35491.1																																																																																				PASS	0.607	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		54	191	54	191	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123471267	123471267	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:123471267G>T	ENST00000475616.1	-	2	283	c.284C>A	c.(283-285)gCt>gAt	p.A95D	MYLK_ENST00000360304.3_Missense_Mutation_p.A95D|MYLK_ENST00000360772.3_Missense_Mutation_p.A95D|MYLK_ENST00000346322.5_Missense_Mutation_p.A95D|MYLK_ENST00000359169.1_Missense_Mutation_p.A95D			Q15746	MYLK_HUMAN	myosin light chain kinase	95	Ig-like C2-type 1.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.A95D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCATGGACAGCATGAATCAC	0.587																																						uc003ego.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(283-285)GCT>GAT		myosin light chain kinase isoform 1							79.0	72.0	74.0					3																	123471267		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123471267G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.284C>A	3.37:g.123471267G>T	ENSP00000418335:p.Ala95Asp					MYLK_uc011bjw.1_Missense_Mutation_p.A95D|MYLK_uc003egp.2_Missense_Mutation_p.A95D|MYLK_uc003egq.2_Missense_Mutation_p.A95D|MYLK_uc003egr.2_Missense_Mutation_p.A95D|MYLK_uc003egs.2_Intron|MYLK_uc010hrs.1_Missense_Mutation_p.A95D|MYLK_uc003egu.1_Missense_Mutation_p.A105D	p.A95D	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	5	566	-		Lung NSC(201;0.0496)	95			Ig-like C2-type 1.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.284C>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.432743	0.01108	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.25	2.38	0.29361	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10165	0.0249	N	0.02985	-0.445	0.09310	N	1	B;B;B;B;B;B;B	0.29508	0.127;0.246;0.002;0.001;0.001;0.001;0.154	B;B;B;B;B;B;B	0.38803	0.185;0.208;0.003;0.002;0.01;0.002;0.282	T	0.41680	-0.9495	9	0.06099	T	0.92	.	4.2116	0.10514	0.0748:0.3017:0.3968:0.2266	.	95;95;95;95;95;95;95	Q15746-6;Q15746-5;D3DN97;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;.;MYLK_HUMAN	D	95	ENSP00000354004:A95D;ENSP00000353452:A95D;ENSP00000352088:A95D;ENSP00000320622:A95D;ENSP00000418335:A95D	ENSP00000320622:A95D	A	-	2	0	MYLK	124953957	0.038000	0.19896	0.001000	0.08648	0.355000	0.29361	1.681000	0.37618	0.275000	0.22094	0.655000	0.94253	GCT		PASS	0.587	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		5	312	5	312	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124153219	124153219	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:124153219C>T	ENST00000240874.3	+	17	3046	c.2889C>T	c.(2887-2889)gcC>gcT	p.A963A	KALRN_ENST00000460856.1_Silent_p.A954A|KALRN_ENST00000360013.3_Silent_p.A963A	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	963					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A963A(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCAGAAAGCCGAGGTGCTGC	0.597																																						uc003ehg.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(2887-2889)GCC>GCT		kalirin, RhoGEF kinase isoform 1							56.0	54.0	55.0					3																	124153219		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124153219C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2889C>T	3.37:g.124153219C>T						KALRN_uc010hrv.1_Silent_p.A954A|KALRN_uc003ehf.1_Silent_p.A963A|KALRN_uc011bjy.1_Silent_p.A954A|KALRN_uc003ehh.1_Silent_p.A309A	p.A963A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			17	3016	+			963			Spectrin 4.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.2889C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	9.455	1.091705	0.20471	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.08	-10.0	0.00425	.	.	.	.	.	T	0.40815	0.1132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47598	-0.9105	4	.	.	.	.	4.8353	0.13462	0.2553:0.5106:0.0767:0.1574	.	.	.	.	L	932	.	.	P	+	2	0	KALRN	125635909	0.000000	0.05858	0.745000	0.31077	0.969000	0.65631	-2.538000	0.00938	-1.645000	0.01515	-0.140000	0.14226	CCG		PASS	0.597	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		35	87	35	87	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129290099	129290099	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:129290099C>T	ENST00000324093.4	-	18	3562	c.3384G>A	c.(3382-3384)ggG>ggA	p.G1128G	PLXND1_ENST00000393239.1_Silent_p.G1128G	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1128	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.G1128G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGCTCAGGGCCCCGGGGGACG	0.657																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(3382-3384)GGG>GGA		plexin D1 precursor							30.0	35.0	33.0					3																	129290099		2202	4298	6500	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290099C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3384G>A	3.37:g.129290099C>T							p.G1128G	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			18	3484	-			1128			Extracellular (Potential).|IPT/TIG 3.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3384G>A	CCDS33854.1																																																																																				PASS	0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		149	80	149	80	---	---	---	---
NCK1	4690	broad.mit.edu	37	3	136646961	136646961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:136646961C>T	ENST00000481752.1	+	2	282	c.118C>T	c.(118-120)Cga>Tga	p.R40*	NCK1_ENST00000288986.2_Nonsense_Mutation_p.R40*|NCK1_ENST00000469404.1_5'Flank			P16333	NCK1_HUMAN	NCK adaptor protein 1	40	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)	p.R40*(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTCCTGGTGGCGAGTTCGAAA	0.398																																						uc003erh.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(118-120)CGA>TGA		NCK adaptor protein 1							115.0	106.0	109.0					3																	136646961		2203	4300	6503	SO:0001587	stop_gained	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136646961C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.118C>T	3.37:g.136646961C>T	ENSP00000417273:p.Arg40*					NCK1_uc011bme.1_5'Flank	p.R40*	NM_006153	NP_006144	P16333	NCK1_HUMAN			2	225	+			40			SH3 1.		B7Z751|D3DNE3	Nonsense_Mutation	SNP	ENST00000481752.1	37	c.118C>T	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	37	6.324072	0.97476	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000476286;ENST00000488930	.	.	.	5.98	1.48	0.22813	.	0.130588	0.48286	D	0.000184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6777	14.1924	0.65646	0.5169:0.4831:0.0:0.0	.	.	.	.	X	40	.	ENSP00000288986:R40X	R	+	1	2	NCK1	138129651	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.531000	0.36018	0.332000	0.23536	0.655000	0.94253	CGA		PASS	0.398	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		148	421	148	421	---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142840260	142840260	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:142840260G>T	ENST00000309575.3	+	2	1986	c.602G>T	c.(601-603)tGg>tTg	p.W201L		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	201					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.W201L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TGGCATGTATGGCAAAAACTG	0.572																																						uc003evm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(601-603)TGG>TTG		carbohydrate (N-acetylglucosamine-6-O)							67.0	84.0	78.0					3																	142840260		2199	4297	6496	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840260G>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.602G>T	3.37:g.142840260G>T	ENSP00000307911:p.Trp201Leu						p.W201L	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	1491	+			201			Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.602G>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602545	0.87157	.	.	ENSG00000175040	ENST00000309575	D	0.96200	-3.94	4.45	4.45	0.53987	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.95884	0.8660	M	0.80847	2.515	0.80722	D	1	P	0.45348	0.856	P	0.48368	0.575	D	0.94886	0.8043	10	0.16896	T	0.51	-15.6658	17.2545	0.87051	0.0:0.0:1.0:0.0	.	201	Q9Y4C5	CHST2_HUMAN	L	201	ENSP00000307911:W201L	ENSP00000307911:W201L	W	+	2	0	CHST2	144322950	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.591000	0.74090	2.295000	0.77249	0.407000	0.27541	TGG		PASS	0.572	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		117	428	117	428	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147130463	147130463	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:147130463A>G	ENST00000282928.4	+	2	1870	c.1141A>G	c.(1141-1143)Atg>Gtg	p.M381V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	381					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M381V(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCGCAAACACATGAAGGTAAT	0.617																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1141-1143)ATG>GTG		zinc finger protein of the cerebellum 1							137.0	106.0	116.0					3																	147130463		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130463A>G	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1141A>G	3.37:g.147130463A>G	ENSP00000282928:p.Met381Val						p.M381V	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			2	1860	+			381			C2H2-type 5.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1141A>G	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.259335	0.59321	.	.	ENSG00000152977	ENST00000282928	T	0.54479	0.57	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.41903	0.1179	L	0.28192	0.835	0.80722	D	1	B	0.21225	0.053	B	0.24701	0.055	T	0.41928	-0.9481	10	0.87932	D	0	.	13.1397	0.59428	1.0:0.0:0.0:0.0	.	381	Q15915	ZIC1_HUMAN	V	381	ENSP00000282928:M381V	ENSP00000282928:M381V	M	+	1	0	ZIC1	148613153	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.833000	0.92089	1.506000	0.48736	0.379000	0.24179	ATG		PASS	0.617	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		41	343	41	343	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147131289	147131289	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:147131289C>G	ENST00000282928.4	+	3	2024	c.1295C>G	c.(1294-1296)aCa>aGa	p.T432R		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	432	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T432R(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTCCACCACACAGCCGGCCAC	0.507																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1294-1296)ACA>AGA		zinc finger protein of the cerebellum 1							118.0	104.0	109.0					3																	147131289		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131289C>G	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1295C>G	3.37:g.147131289C>G	ENSP00000282928:p.Thr432Arg						p.T432R	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			3	2014	+			432			Ser-rich.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1295C>G	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.60|14.60	2.584732|2.584732	0.46110|0.46110	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000488404|ENST00000282928	.|T	.|0.12255	.|2.7	3.28|3.28	3.28|3.28	0.37604|0.37604	.|.	.|0.063954	.|0.64402	.|U	.|0.000008	T|T	0.28896|0.28896	0.0717|0.0717	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.70487	.|0.969	T|T	0.02075|0.02075	-1.1218|-1.1218	5|10	.|0.34782	.|T	.|0.22	.|.	14.5253|14.5253	0.67884|0.67884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|432	.|Q15915	.|ZIC1_HUMAN	E|R	121|432	.|ENSP00000282928:T432R	.|ENSP00000282928:T432R	Q|T	+|+	1|2	0|0	ZIC1|ZIC1	148613979|148613979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	4.328000|4.328000	0.59253|0.59253	1.369000|1.369000	0.46134|0.46134	0.462000|0.462000	0.41574|0.41574	CAG|ACA		PASS	0.507	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		7	428	7	428	---	---	---	---
OTOL1	131149	broad.mit.edu	37	3	161221516	161221516	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:161221516C>T	ENST00000327928.4	+	4	1220	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	407	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.A407V(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGTCTGGTGGCCCAGAATAAG	0.473																																						uc011bpb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1219-1221)GCC>GTC		otolin-1 precursor							56.0	51.0	53.0					3																	161221516		1924	4130	6054	SO:0001583	missense	131149					collagen		g.chr3:161221516C>T		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1220C>T	3.37:g.161221516C>T	ENSP00000330808:p.Ala407Val						p.A407V	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			4	1220	+			407			C1q.			Missense_Mutation	SNP	ENST00000327928.4	37	c.1220C>T	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	C	7.716	0.696245	0.15106	.	.	ENSG00000182447	ENST00000327928	T	0.75260	-0.92	5.23	5.23	0.72850	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.058628	0.64402	D	0.000001	T	0.57431	0.2053	N	0.16602	0.42	0.35904	D	0.830628	B	0.27166	0.17	B	0.30716	0.119	T	0.60068	-0.7335	10	0.15499	T	0.54	.	10.953	0.47341	0.0:0.914:0.0:0.086	.	407	A6NHN0	OTOL1_HUMAN	V	407	ENSP00000330808:A407V	ENSP00000330808:A407V	A	+	2	0	OTOL1	162704210	0.995000	0.38212	0.949000	0.38748	0.894000	0.52154	2.918000	0.48829	2.427000	0.82271	0.557000	0.71058	GCC		PASS	0.473	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		28	149	28	149	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180377270	180377270	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:180377270C>T	ENST00000442201.2	-	6	827	c.708G>A	c.(706-708)aaG>aaA	p.K236K	CCDC39_ENST00000273654.4_Silent_p.K320K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	236					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.K236K(1)|p.K320K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCCATCCCTCTTCTGCATCT	0.348																																						uc010hxe.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(706-708)AAG>AAA		coiled-coil domain containing 39							264.0	249.0	254.0					3																	180377270		1902	4123	6025	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180377270C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.708G>A	3.37:g.180377270C>T						CCDC39_uc003fkn.2_RNA	p.K236K	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		6	823	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		236			Potential.		B4E2H1	Silent	SNP	ENST00000442201.2	37	c.708G>A	CCDS46964.1																																																																																				PASS	0.348	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		168	121	168	121	---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180667070	180667070	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:180667070G>T	ENST00000357559.4	+	7	953	c.569G>T	c.(568-570)cGa>cTa	p.R190L	FXR1_ENST00000491062.1_Missense_Mutation_p.R141L|FXR1_ENST00000305586.7_Missense_Mutation_p.R105L|FXR1_ENST00000468861.1_Missense_Mutation_p.R105L|FXR1_ENST00000445140.2_Missense_Mutation_p.R190L|FXR1_ENST00000480918.1_Missense_Mutation_p.R177L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	190					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R190L(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ATGCATTTGCGAAGTATTCGT	0.368																																						uc003fkq.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(568-570)CGA>CTA		fragile X mental retardation-related protein 1							171.0	169.0	170.0					3																	180667070		2203	4300	6503	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180667070G>T	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.569G>T	3.37:g.180667070G>T	ENSP00000350170:p.Arg190Leu					FXR1_uc003fkp.2_Missense_Mutation_p.R105L|FXR1_uc003fkr.2_Missense_Mutation_p.R190L|FXR1_uc011bqj.1_Missense_Mutation_p.R104L|FXR1_uc003fks.2_Missense_Mutation_p.R104L|FXR1_uc011bqk.1_Missense_Mutation_p.R141L|FXR1_uc011bql.1_Missense_Mutation_p.R177L	p.R190L	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		7	591	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		190					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.569G>T	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544471	0.96488	.	.	ENSG00000114416	ENST00000469882;ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000484958;ENST00000480918	T;T;T;T;T;T;T;T	0.59364	0.28;1.51;1.16;0.81;0.69;0.85;0.27;1.32	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.81074	0.4747	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.993	D;D;D;D;D;D	0.87578	0.997;0.998;0.998;0.994;0.997;0.972	D	0.84727	0.0743	10	0.87932	D	0	-20.5922	19.1196	0.93357	0.0:0.0:1.0:0.0	.	177;141;105;105;190;190	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	L	105;190;105;141;105;190;105;177	ENSP00000419793:R105L;ENSP00000350170:R190L;ENSP00000307633:R105L;ENSP00000420643:R141L;ENSP00000420515:R105L;ENSP00000388828:R190L;ENSP00000419933:R105L;ENSP00000418097:R177L	ENSP00000307633:R105L	R	+	2	0	FXR1	182149764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.499000	0.84300	0.467000	0.42956	CGA		PASS	0.368	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			204	552	204	552	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186980499	186980499	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr3:186980499C>G	ENST00000337774.5	-	3	636	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	MASP1_ENST00000392470.2_Missense_Mutation_p.E57Q|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.E83Q|MASP1_ENST00000392472.2_5'UTR|MASP1_ENST00000296280.6_Missense_Mutation_p.E83Q	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	83	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.E83Q(3)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACCTGGTCCTCAGTTTCTACC	0.532																																						uc003frh.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(1)|liver(1)	4						c.(247-249)GAG>CAG		mannan-binding lectin serine protease 1 isoform							57.0	55.0	56.0					3																	186980499		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186980499C>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.247G>C	3.37:g.186980499C>G	ENSP00000336792:p.Glu83Gln					MASP1_uc003fri.2_Missense_Mutation_p.E83Q|MASP1_uc003frj.2_Missense_Mutation_p.E52Q|MASP1_uc003frk.1_Missense_Mutation_p.E83Q|MASP1_uc011bse.1_Missense_Mutation_p.E57Q	p.E83Q	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	3	579	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		83			Interaction with FCN2.|Interaction with MBL2.|Homodimerization (By similarity).|CUB 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.247G>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803952	0.70682	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000169293;ENST00000392470;ENST00000392475;ENST00000439271	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.63	5.63	0.86233	CUB (5);	0.047846	0.85682	D	0.000000	T	0.35393	0.0930	L	0.43646	1.37	0.80722	D	1	P;B;D;D	0.56287	0.883;0.164;0.973;0.975	P;B;P;P	0.55545	0.622;0.042;0.622;0.778	T	0.01729	-1.1286	10	0.72032	D	0.01	.	19.045	0.93016	0.0:1.0:0.0:0.0	.	57;83;83;83	F8W876;P48740-3;P48740-2;P48740	.;.;.;MASP1_HUMAN	Q	83;83;83;57;90;109	ENSP00000336792:E83Q;ENSP00000296280:E83Q;ENSP00000169293:E83Q;ENSP00000376262:E57Q;ENSP00000376267:E90Q;ENSP00000412021:E109Q	ENSP00000169293:E83Q	E	-	1	0	MASP1	188463193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.468000	0.80943	2.826000	0.97356	0.655000	0.94253	GAG		PASS	0.532	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		54	193	54	193	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1018453	1018453	+	Splice_Site	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:1018453G>A	ENST00000398484.2	+	7	1652		c.e7+1		FGFRL1_ENST00000264748.6_Splice_Site|FGFRL1_ENST00000504138.1_Splice_Site|FGFRL1_ENST00000510644.1_Splice_Site			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1						diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)	p.?(2)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGCTGCCAGGTGCGCGGCTG	0.726																																						uc003gce.2																			2	Unknown(2)		lung(2)		0						c.e6+1		fibroblast growth factor receptor-like 1							32.0	26.0	28.0					4																	1018453		2199	4270	6469	SO:0001630	splice_region_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018453G>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1072+1G>A	4.37:g.1018453G>A						FGFRL1_uc003gcf.2_Splice_Site_p.D358_splice|FGFRL1_uc003gcg.2_Splice_Site_p.D358_splice|FGFRL1_uc010ibo.2_Splice_Site_p.D358_splice	p.D358_splice	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	1233	+								B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Splice_Site	SNP	ENST00000398484.2	37	c.1072_splice	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047090	0.75846	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.776	0.88508	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FGFRL1	1008453	1.000000	0.71417	0.994000	0.49952	0.661000	0.39034	7.630000	0.83225	2.435000	0.82474	0.586000	0.80456	.		PASS	0.726	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923	Intron	5	3	5	3	---	---	---	---
QDPR	5860	broad.mit.edu	37	4	17513587	17513587	+	Silent	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:17513587G>T	ENST00000281243.5	-	1	270	c.91C>A	c.(91-93)Cgg>Agg	p.R31R	QDPR_ENST00000513615.1_Silent_p.R31R|QDPR_ENST00000428702.2_Silent_p.R31R|QDPR_ENST00000508623.1_Silent_p.R31R	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	31					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)	p.R31R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTGCGGGCCCGAAAAGCCTGC	0.731																																						uc003gpd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(91-93)CGG>AGG		quinoid dihydropteridine reductase	NADH(DB00157)						12.0	17.0	16.0					4																	17513587		2157	4239	6396	SO:0001819	synonymous_variant	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17513587G>T	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.91C>A	4.37:g.17513587G>T						QDPR_uc003gpe.2_Silent_p.R31R|QDPR_uc003gpf.2_RNA	p.R31R	NM_000320	NP_000311	P09417	DHPR_HUMAN			1	271	-			31			NADP.		A8K158|B3KW71|Q53F52|Q9H3M5	Silent	SNP	ENST00000281243.5	37	c.91C>A	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	G	8.494	0.862787	0.17178	.	.	ENSG00000151552	ENST00000505710	D	0.92647	-3.08	4.01	4.01	0.46588	.	.	.	.	.	D	0.93549	0.7941	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.93474	0.6821	6	0.59425	D	0.04	0.1618	10.6753	0.45783	0.0:0.0:0.6895:0.3105	.	.	.	.	L	6	ENSP00000420873:F6L	ENSP00000420873:F6L	F	-	3	2	QDPR	17122685	0.999000	0.42202	1.000000	0.80357	0.460000	0.32559	0.652000	0.24888	2.063000	0.61619	0.655000	0.94253	TTC		PASS	0.731	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		4	10	4	10	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46264131	46264131	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:46264131G>C	ENST00000510861.1	-	9	1044	c.871C>G	c.(871-873)Cta>Gta	p.L291V	GABRA2_ENST00000514090.1_Missense_Mutation_p.L291V|GABRA2_ENST00000540012.1_Missense_Mutation_p.L236V|GABRA2_ENST00000507069.1_Missense_Mutation_p.L291V|GABRA2_ENST00000356504.1_Missense_Mutation_p.L291V|GABRA2_ENST00000515082.1_Missense_Mutation_p.L291V|GABRA2_ENST00000381620.4_Missense_Mutation_p.L291V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	291					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L291V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTCATTGTTAGGACAGTTGTT	0.433																																						uc003gxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(871-873)CTA>GTA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						95.0	89.0	91.0					4																	46264131		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46264131G>C		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.871C>G	4.37:g.46264131G>C	ENSP00000421828:p.Leu291Val					GABRA2_uc010igc.2_Missense_Mutation_p.L291V|GABRA2_uc011bzc.1_Missense_Mutation_p.L236V|GABRA2_uc003gxe.2_Missense_Mutation_p.L291V	p.L291V	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			8	1544	-			291			Helical; (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.871C>G	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166805	0.57476	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.22;-2.23;-3.22	5.44	2.76	0.32466	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	M	0.88906	2.99	0.49687	D	0.999812	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.999	D	0.95562	0.8630	10	0.87932	D	0	.	7.8888	0.29665	0.4121:0.0:0.5879:0.0	.	236;291;291	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	V	291;291;291;291;236;291;291	ENSP00000421828:L291V;ENSP00000421300:L291V;ENSP00000371033:L291V;ENSP00000348897:L291V;ENSP00000444409:L236V;ENSP00000427603:L291V;ENSP00000423840:L291V	ENSP00000348897:L291V	L	-	1	2	GABRA2	45958888	0.987000	0.35691	0.949000	0.38748	0.943000	0.58893	1.975000	0.40569	0.349000	0.23975	0.591000	0.81541	CTA		PASS	0.433	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			8	144	8	144	---	---	---	---
TEC	7006	broad.mit.edu	37	4	48172291	48172291	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:48172291C>A	ENST00000381501.3	-	5	585	c.428G>T	c.(427-429)tGt>tTt	p.C143F		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	143					B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.C143F(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTATTTTTCACATCCGGGTGC	0.289																																						uc003gxz.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(427-429)TGT>TTT		tec protein tyrosine kinase							66.0	73.0	70.0					4																	48172291		2200	4293	6493	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48172291C>A	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.428G>T	4.37:g.48172291C>A	ENSP00000370912:p.Cys143Phe						p.C143F	NM_003215	NP_003206	P42680	TEC_HUMAN			5	519	-			143			Btk-type.	Zinc (By similarity).	B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.428G>T	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063656	0.76187	.	.	ENSG00000135605	ENST00000381501	D	0.99942	-8.47	5.5	5.5	0.81552	Pleckstrin homology-type (1);Zinc finger, Btk motif (4);	0.000000	0.85682	D	0.000000	D	0.99935	0.9971	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95801	0.8833	10	0.66056	D	0.02	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	143	P42680	TEC_HUMAN	F	143	ENSP00000370912:C143F	ENSP00000370912:C143F	C	-	2	0	TEC	47867048	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.197000	0.72100	2.575000	0.86900	0.585000	0.79938	TGT		PASS	0.289	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			30	63	30	63	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52861814	52861814	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:52861814G>C	ENST00000343457.3	-	4	1380	c.1374C>G	c.(1372-1374)ttC>ttG	p.F458L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	458						integral component of membrane (GO:0016021)		p.F458L(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGTCACCCAGAAAGGGGTCT	0.562																																						uc003gzi.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1372-1374)TTC>TTG		leucine rich repeat containing 66							80.0	84.0	82.0					4																	52861814		2008	4171	6179	SO:0001583	missense	339977					integral to membrane		g.chr4:52861814G>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1374C>G	4.37:g.52861814G>C	ENSP00000341944:p.Phe458Leu						p.F458L	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1387	-			458						Missense_Mutation	SNP	ENST00000343457.3	37	c.1374C>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	1.476	-0.558428	0.03967	.	.	ENSG00000188993	ENST00000343457	T	0.27557	1.66	2.99	0.195	0.15151	.	0.793635	0.10680	N	0.646509	T	0.16685	0.0401	N	0.19112	0.55	0.09310	N	1	B	0.18863	0.031	B	0.12156	0.007	T	0.22730	-1.0208	10	0.41790	T	0.15	0.0814	4.3657	0.11223	0.2318:0.1883:0.5799:0.0	.	458	Q68CR7	LRC66_HUMAN	L	458	ENSP00000341944:F458L	ENSP00000341944:F458L	F	-	3	2	LRRC66	52556571	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.127000	0.15790	-0.000000	0.14550	0.467000	0.42956	TTC		PASS	0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		55	148	55	148	---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52936033	52936033	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:52936033G>A	ENST00000295213.4	+	5	843	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	157					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.A157T(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GAACAGATCGGCCATATCCCT	0.338																																						uc003gzl.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(469-471)GCC>ACC		spermatogenesis associated 18 homolog							58.0	58.0	58.0					4																	52936033		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52936033G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.469G>A	4.37:g.52936033G>A	ENSP00000295213:p.Ala157Thr					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Intron|SPATA18_uc003gzk.1_Missense_Mutation_p.A157T	p.A157T	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		5	747	+			157			Potential.		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.469G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917813	0.73098	.	.	ENSG00000163071	ENST00000295213	T	0.57107	0.42	5.67	-1.18	0.09617	.	0.355712	0.31721	N	0.007167	T	0.36026	0.0952	L	0.43554	1.36	0.46061	D	0.998849	B;B	0.17667	0.023;0.023	B;B	0.14578	0.011;0.011	T	0.04752	-1.0929	10	0.42905	T	0.14	-2.0252	4.811	0.13344	0.1642:0.0:0.3842:0.4516	.	157;157	Q8TC71;Q96M13	MIEAP_HUMAN;.	T	157	ENSP00000295213:A157T	ENSP00000295213:A157T	A	+	1	0	SPATA18	52630790	0.997000	0.39634	0.682000	0.30024	0.996000	0.88848	0.600000	0.24104	-0.163000	0.10946	0.591000	0.81541	GCC		PASS	0.338	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		11	24	11	24	---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52944901	52944901	+	Splice_Site	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:52944901G>A	ENST00000295213.4	+	8	1395	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	SPATA18_ENST00000419395.2_Splice_Site_p.E309K	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	341					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.E341K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTATGTGCAGGAGGCATTCCA	0.393																																						uc003gzl.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1021-1023)GAG>AAG		spermatogenesis associated 18 homolog							123.0	110.0	114.0					4																	52944901		2203	4300	6503	SO:0001630	splice_region_variant	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52944901G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1021-1G>A	4.37:g.52944901G>A						SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.E309K|SPATA18_uc003gzk.1_Missense_Mutation_p.E341K	p.E341K	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		8	1299	+			341					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1021G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814327	0.70912	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.28895	1.59;1.59	4.99	4.99	0.66335	.	0.048679	0.85682	D	0.000000	T	0.54367	0.1854	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.994	T	0.57093	-0.7870	10	0.87932	D	0	-28.6984	15.8342	0.78787	0.0:0.0:1.0:0.0	.	309;341;341	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	K	341;309	ENSP00000295213:E341K;ENSP00000415309:E309K	ENSP00000295213:E341K	E	+	1	0	SPATA18	52639658	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	8.075000	0.89502	2.593000	0.87608	0.655000	0.94253	GAG		PASS	0.393	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	Missense_Mutation	66	184	66	184	---	---	---	---
SULT1B1	27284	broad.mit.edu	37	4	70596284	70596284	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:70596284A>G	ENST00000310613.3	-	7	1010	c.713T>C	c.(712-714)tTg>tCg	p.L238S		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	238					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.L238S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ATAATTTACCAAAGGATTGTC	0.363																																						uc003hen.2																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)TTG>TCG		sulfotransferase family, cytosolic, 1B, member							168.0	154.0	159.0					4																	70596284		2203	4299	6502	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596284A>G	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.713T>C	4.37:g.70596284A>G	ENSP00000308770:p.Leu238Ser						p.L238S	NM_014465	NP_055280	O43704	ST1B1_HUMAN			7	1011	-			238					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.713T>C	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627237	0.28978	.	.	ENSG00000173597	ENST00000310613	D	0.81996	-1.56	4.09	4.09	0.47781	Sulfotransferase domain (1);	0.190620	0.25461	N	0.030507	T	0.62295	0.2416	N	0.03050	-0.425	0.39487	D	0.967975	B	0.32160	0.358	B	0.32211	0.142	T	0.63686	-0.6581	10	0.27082	T	0.32	.	11.3366	0.49507	1.0:0.0:0.0:0.0	.	238	O43704	ST1B1_HUMAN	S	238	ENSP00000308770:L238S	ENSP00000308770:L238S	L	-	2	0	SULT1B1	70630873	0.685000	0.27652	0.972000	0.41901	0.860000	0.49131	3.196000	0.51020	1.633000	0.50488	0.383000	0.25322	TTG		PASS	0.363	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		41	119	41	119	---	---	---	---
HTN1	3346	broad.mit.edu	37	4	70921229	70921229	+	Silent	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:70921229A>T	ENST00000511674.1	+	5	188	c.117A>T	c.(115-117)tcA>tcT	p.S39S	HTN1_ENST00000246896.3_Silent_p.S39S			P15515	HIS1_HUMAN	histatin 1	39					biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)		p.S39S(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						AGCATCATTCACATCGAGAAT	0.348																																						uc003hex.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(115-117)TCA>TCT		histatin 1 precursor							125.0	113.0	117.0					4																	70921229		2202	4299	6501	SO:0001819	synonymous_variant	3346				biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	g.chr4:70921229A>T		CCDS3534.1	4q13	2008-02-05			ENSG00000126550	ENSG00000126550			5283	protein-coding gene	gene with protein product		142701					Standard	NM_002159		Approved	HIS1	uc003hex.3	P15515	OTTHUMG00000129397	ENST00000511674.1:c.117A>T	4.37:g.70921229A>T							p.S39S	NM_002159	NP_002150	P15515	HIS1_HUMAN			5	184	+			39						Silent	SNP	ENST00000511674.1	37	c.117A>T	CCDS3534.1																																																																																				PASS	0.348	HTN1-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362220.2			17	87	17	87	---	---	---	---
GC	2638	broad.mit.edu	37	4	72635072	72635072	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:72635072A>T	ENST00000273951.8	-	2	447	c.104T>A	c.(103-105)cTg>cAg	p.L35Q	GC_ENST00000504199.1_Missense_Mutation_p.L54Q|GC_ENST00000513476.1_Missense_Mutation_p.L35Q|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	35	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.L54Q(1)|p.L35Q(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	CTCCTTTCCCAGATGGGAGAA	0.408																																						uc003hge.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(103-105)CTG>CAG		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						85.0	81.0	82.0					4																	72635072		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72635072A>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.104T>A	4.37:g.72635072A>T	ENSP00000273951:p.Leu35Gln					GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.L35Q|GC_uc010iif.2_Missense_Mutation_p.L54Q	p.L35Q	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		2	257	-		all_hematologic(202;0.107)	35			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.104T>A	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.111185	0.56398	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476;ENST00000506245	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.47	5.47	0.80525	.	0.360450	0.26796	N	0.022456	D	0.85261	0.5656	M	0.75447	2.3	0.45662	D	0.998588	D;D	0.76494	0.999;0.997	D;P	0.68621	0.959;0.881	D	0.87116	0.2188	10	0.87932	D	0	.	15.5131	0.75798	1.0:0.0:0.0:0.0	.	54;35	D6RAK8;D6RF35	.;.	Q	35;54;35;35	ENSP00000273951:L35Q;ENSP00000421725:L54Q;ENSP00000426683:L35Q;ENSP00000426718:L35Q	ENSP00000273951:L35Q	L	-	2	0	GC	72853936	1.000000	0.71417	0.839000	0.33178	0.280000	0.26924	5.786000	0.69006	2.215000	0.71742	0.459000	0.35465	CTG		PASS	0.408	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			11	56	11	56	---	---	---	---
MEPE	56955	broad.mit.edu	37	4	88766940	88766940	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:88766940C>A	ENST00000424957.3	+	4	993	c.920C>A	c.(919-921)cCa>cAa	p.P307Q	MEPE_ENST00000540395.1_Missense_Mutation_p.P194Q|MEPE_ENST00000361056.3_Missense_Mutation_p.P307Q|MEPE_ENST00000497649.2_Missense_Mutation_p.P283Q|MEPE_ENST00000560249.1_Missense_Mutation_p.P194Q|MEPE_ENST00000395102.4_Missense_Mutation_p.P338Q|MEPE_ENST00000508016.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	307					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.P307Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AATGAGATCCCAGAGAGAGAA	0.453																																						uc003hqy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(919-921)CCA>CAA		matrix, extracellular phosphoglycoprotein with							61.0	62.0	62.0					4																	88766940		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766940C>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.920C>A	4.37:g.88766940C>A	ENSP00000416984:p.Pro307Gln					MEPE_uc010ikn.2_Missense_Mutation_p.P194Q	p.P307Q	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	959	+		Hepatocellular(203;0.114)	307					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.920C>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005835	0.54254	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.74737	-0.8;-0.76;-0.87;-0.79;-0.8	4.75	4.75	0.60458	.	0.000000	0.48767	D	0.000175	D	0.86564	0.5963	M	0.85197	2.74	0.39935	D	0.974335	D	0.89917	1.0	D	0.91635	0.999	D	0.89065	0.3465	10	0.87932	D	0	-12.0507	13.1392	0.59426	0.0:1.0:0.0:0.0	.	307	Q9NQ76	MEPE_HUMAN	Q	307;338;283;194;307	ENSP00000416984:P307Q;ENSP00000378534:P338Q;ENSP00000422747:P283Q;ENSP00000443491:P194Q;ENSP00000354341:P307Q	ENSP00000354341:P307Q	P	+	2	0	MEPE	88985964	1.000000	0.71417	0.994000	0.49952	0.392000	0.30506	2.147000	0.42226	2.477000	0.83638	0.655000	0.94253	CCA		PASS	0.453	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			45	135	45	135	---	---	---	---
TET2	54790	broad.mit.edu	37	4	106155322	106155322	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:106155322A>T	ENST00000540549.1	+	3	1083	c.223A>T	c.(223-225)Agt>Tgt	p.S75C	TET2_ENST00000380013.4_Missense_Mutation_p.S75C|TET2_ENST00000394764.1_Missense_Mutation_p.S75C|TET2_ENST00000413648.2_Missense_Mutation_p.S75C|TET2_ENST00000305737.2_Missense_Mutation_p.S75C|TET2_ENST00000545826.1_Missense_Mutation_p.S75C|TET2_ENST00000513237.1_Missense_Mutation_p.S96C			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	75					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.S75C(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TAGTCGTGTGAGTCCTGACTT	0.428			"""Mis N, F"""		MDS																																	uc003hxk.2				Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(223-225)AGT>TGT		tet oncogene family member 2 isoform a							106.0	101.0	103.0					4																	106155322		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155322A>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.223A>T	4.37:g.106155322A>T	ENSP00000442788:p.Ser75Cys					TET2_uc011cez.1_Missense_Mutation_p.S96C|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S75C|TET2_uc003hxi.1_Missense_Mutation_p.S75C	p.S75C	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	609	+		Myeloproliferative disorder(5;0.0393)	75					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.223A>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976896	0.74360	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110;ENST00000514870	T;T;T;T;T;T;T;T	0.50001	2.78;3.73;2.78;3.72;3.73;2.78;2.82;0.76	5.43	5.43	0.79202	.	0.401887	0.19001	U	0.125350	T	0.58750	0.2144	L	0.32530	0.975	0.38359	D	0.944546	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.98;0.98;0.997	T	0.64803	-0.6321	10	0.87932	D	0	.	14.0766	0.64893	1.0:0.0:0.0:0.0	.	96;75;75	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	C	75;75;75;96;75;75;75;75;75	ENSP00000306705:S75C;ENSP00000442788:S75C;ENSP00000442867:S75C;ENSP00000425443:S96C;ENSP00000369351:S75C;ENSP00000378245:S75C;ENSP00000391448:S75C;ENSP00000426885:S75C	ENSP00000265149:S75C	S	+	1	0	TET2	106374771	1.000000	0.71417	0.834000	0.33040	0.992000	0.81027	7.797000	0.85911	2.061000	0.61500	0.482000	0.46254	AGT		PASS	0.428	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		66	211	66	211	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114251538	114251538	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:114251538A>T	ENST00000357077.4	+	27	3090	c.3037A>T	c.(3037-3039)Aga>Tga	p.R1013*	ANK2_ENST00000506722.1_Nonsense_Mutation_p.R1004*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.R222*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.R1013*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.R1013*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1013	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R1013*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAGCGCCACAGACTGGCAAC	0.547																																						uc003ibe.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3037-3039)AGA>TGA		ankyrin 2 isoform 1							97.0	81.0	86.0					4																	114251538		2203	4300	6503	SO:0001587	stop_gained	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114251538A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3037A>T	4.37:g.114251538A>T	ENSP00000349588:p.Arg1013*					ANK2_uc003ibd.3_Nonsense_Mutation_p.R1004*|ANK2_uc003ibf.3_Nonsense_Mutation_p.R1013*|ANK2_uc011cgc.1_Nonsense_Mutation_p.R222*|ANK2_uc003ibg.3_Nonsense_Mutation_p.R41*|ANK2_uc003ibc.2_Nonsense_Mutation_p.R989*|ANK2_uc011cgb.1_Nonsense_Mutation_p.R1028*	p.R1013*	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3137	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1013			ZU5.|Interaction with SPTBN1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	c.3037A>T	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	38|38	7.200136|7.200136	0.98132|0.98132	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|.	.|.	.|.	5.83|5.83	-11.4|-11.4	0.00090|0.00090	.|.	.|0.102760	.|0.39759	.|N	.|0.001280	T|.	0.45155|.	0.1328|.	.|.	.|.	.|.	0.49389|0.49389	D|D	0.999788|0.999788	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59247|.	-0.7490|.	4|.	.|0.02654	.|T	.|1	.|.	23.2037|23.2037	0.99980|0.99980	0.2525:0.7475:0.0:0.0|0.2525:0.7475:0.0:0.0	.|.	.|.	.|.	.|.	L|X	58|992;959;1004;92;1028;1013;1013;1013;1004;222	.|.	.|ENSP00000264366:R1013X	Q|R	+|+	2|1	0|2	ANK2|ANK2	114470987|114470987	0.915000|0.915000	0.31059|0.31059	0.001000|0.001000	0.08648|0.08648	0.910000|0.910000	0.53928|0.53928	2.012000|2.012000	0.40932|0.40932	-2.066000|-2.066000	0.00886|0.00886	-0.461000|-0.461000	0.05368|0.05368	CAG|AGA		PASS	0.547	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		23	89	23	89	---	---	---	---
ZNF330	27309	broad.mit.edu	37	4	142155097	142155097	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:142155097G>T	ENST00000262990.4	+	10	1145	c.917G>T	c.(916-918)aGg>aTg	p.R306M	ZNF330_ENST00000421169.2_Missense_Mutation_p.R246M	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	306						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.R306M(1)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					AATTTAGGAAGGACCTATGCT	0.453																																						uc003iiq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(916-918)AGG>ATG		zinc finger protein 330							121.0	127.0	125.0					4																	142155097		2203	4300	6503	SO:0001583	missense	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142155097G>T	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.917G>T	4.37:g.142155097G>T	ENSP00000262990:p.Arg306Met					ZNF330_uc011chl.1_Missense_Mutation_p.R246M	p.R306M	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN			10	1137	+	all_hematologic(180;0.162)		306					B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	c.917G>T	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896990	0.72639	.	.	ENSG00000109445	ENST00000262990;ENST00000421169	T;T	0.32272	1.46;1.46	5.87	5.87	0.94306	.	0.141862	0.64402	D	0.000005	T	0.38692	0.1050	N	0.22421	0.69	0.58432	D	0.999999	B;D	0.55385	0.34;0.971	B;P	0.54372	0.299;0.75	T	0.15464	-1.0436	10	0.87932	D	0	-34.6922	20.5827	0.99408	0.0:0.0:1.0:0.0	.	246;306	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	M	306;246	ENSP00000262990:R306M;ENSP00000397397:R246M	ENSP00000262990:R306M	R	+	2	0	ZNF330	142374547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.493000	0.73658	2.941000	0.99782	0.655000	0.94253	AGG		PASS	0.453	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		60	207	60	207	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155156611	155156611	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:155156611C>T	ENST00000357232.4	-	25	7827	c.7828G>A	c.(7828-7830)Gtg>Atg	p.V2610M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2610					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2610M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGCATCCACAGGGACCACC	0.483																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(7828-7830)GTG>ATG		dachsous 2 isoform 1							123.0	123.0	123.0					4																	155156611		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156611C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7828G>A	4.37:g.155156611C>T	ENSP00000349768:p.Val2610Met						p.V2610M	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7828	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2610					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7828G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	0.363	-0.938266	0.02340	.	.	ENSG00000197410	ENST00000357232	T	0.54479	0.57	5.82	0.862	0.19056	.	1.495560	0.04069	N	0.307773	T	0.38188	0.1031	L	0.28274	0.84	0.09310	N	1	B	0.18863	0.031	B	0.06405	0.002	T	0.15350	-1.0440	10	0.27082	T	0.32	.	5.8597	0.18740	0.0:0.398:0.1359:0.4661	.	2610	Q6V1P9	PCD23_HUMAN	M	2610	ENSP00000349768:V2610M	ENSP00000349768:V2610M	V	-	1	0	DCHS2	155376061	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.288000	0.08377	0.183000	0.20059	0.467000	0.42956	GTG		PASS	0.483	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		71	226	71	226	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155253955	155253955	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:155253955G>A	ENST00000357232.4	-	9	1907	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Silent_p.I1135I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	636	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I636I(1)|p.I1135I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTAAGGGCGGATTCCAAACA	0.522																																						uc003inw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(1906-1908)ATC>ATT		dachsous 2 isoform 1							50.0	53.0	52.0					4																	155253955		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253955G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1908C>T	4.37:g.155253955G>A						DCHS2_uc003inx.2_Silent_p.I1135I	p.I636I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1908	-	all_hematologic(180;0.208)	Renal(120;0.0854)	636			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1908C>T	CCDS3785.1																																																																																				PASS	0.522	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		34	85	34	85	---	---	---	---
NAF1	92345	broad.mit.edu	37	4	164054361	164054361	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:164054361C>T	ENST00000274054.2	-	7	1171	c.978G>A	c.(976-978)agG>agA	p.R326R	NAF1_ENST00000422287.2_Silent_p.R326R|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	326					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R326R(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAGATTTTTTCCTCTGTTTGG	0.323																																						uc003iqj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(976-978)AGG>AGA		nuclear assembly factor 1 homolog isoform a							133.0	128.0	130.0					4																	164054361		2201	4300	6501	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164054361C>T		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.978G>A	4.37:g.164054361C>T						NAF1_uc010iqw.1_Silent_p.R326R	p.R326R	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			7	1172	-	all_hematologic(180;0.166)	Prostate(90;0.109)	326					D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.978G>A	CCDS3803.1																																																																																				PASS	0.323	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		35	102	35	102	---	---	---	---
CLDN22	53842	broad.mit.edu	37	4	184241242	184241242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:184241242C>A	ENST00000323319.5	-	1	685	c.130G>T	c.(130-132)Gaa>Taa	p.E44*	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	44					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.E44*(1)		cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTCCAGTTTTCCATTTCATTT	0.468																																						uc010isa.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(130-132)GAA>TAA		claudin 22							110.0	101.0	104.0					4																	184241242		1568	3580	5148	SO:0001587	stop_gained	53842				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr4:184241242C>A	AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"""Claudins"""	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.130G>T	4.37:g.184241242C>A	ENSP00000318113:p.Glu44*					WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	p.E44*	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	1	686	-		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)	44			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000323319.5	37	c.130G>T	CCDS43286.1	.	.	.	.	.	.	.	.	.	.	C	42	9.620512	0.99221	.	.	ENSG00000177300	ENST00000323319	.	.	.	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.8599	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	44	.	ENSP00000318113:E44X	E	-	1	0	CLDN22	184478236	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.197000	0.77814	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.468	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361493.1			95	259	95	259	---	---	---	---
SLC25A4	291	broad.mit.edu	37	4	186066998	186066998	+	Silent	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr4:186066998C>A	ENST00000281456.6	+	3	816	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	228					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)	p.S228S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|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)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GGCTGGTGTCCTACCCCTTTG	0.542																																						uc003ixd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(682-684)TCC>TCA		adenine nucleotide translocator 1	Adenosine triphosphate(DB00171)|Clodronate(DB00720)						109.0	87.0	94.0					4																	186066998		2203	4300	6503	SO:0001819	synonymous_variant	291				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding	g.chr4:186066998C>A	BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.684C>A	4.37:g.186066998C>A						SLC25A4_uc003ixe.2_RNA	p.S228S	NM_001151	NP_001142	P12235	ADT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|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)	3	813	+		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	228			Helical; Name=5; (By similarity).|Solcar 3.		D3DP59	Silent	SNP	ENST00000281456.6	37	c.684C>A	CCDS34114.1																																																																																				PASS	0.542	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151		4	96	4	96	---	---	---	---
LPCAT1	79888	broad.mit.edu	37	5	1489888	1489888	+	Silent	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:1489888C>A	ENST00000283415.3	-	4	711	c.579G>T	c.(577-579)cgG>cgT	p.R193R		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	193					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.R193R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGGACTGCGCCCGTCTCTTGA	0.512																																						uc003jcm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(577-579)CGG>CGT		lysophosphatidylcholine acyltransferase 1							207.0	201.0	203.0					5																	1489888		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1489888C>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.579G>T	5.37:g.1489888C>A							p.R193R	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	4	696	-			193			Lumenal (Potential).		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.579G>T	CCDS3864.1																																																																																				PASS	0.512	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		115	261	115	261	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39135117	39135117	+	Splice_Site	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:39135117C>T	ENST00000351578.6	-	8	1706		c.e8-1		FYB_ENST00000515010.1_Splice_Site|FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000512982.1_Splice_Site	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.?(4)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGCCTGTTAGCTGCAAAGAGA	0.338																																						uc003jls.2																			4	Unknown(4)		lung(4)	ovary(2)	2						c.e7-1		FYN binding protein (FYB-120/130) isoform 2							122.0	108.0	112.0					5																	39135117		1819	4089	5908	SO:0001630	splice_region_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39135117C>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1516-1G>A	5.37:g.39135117C>T						FYB_uc003jlt.2_Splice_Site_p.L506_splice|FYB_uc003jlu.2_Splice_Site_p.L506_splice|FYB_uc011cpl.1_Splice_Site_p.L516_splice	p.L506_splice	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		7	1583	-	all_lung(31;0.000343)							A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Splice_Site	SNP	ENST00000351578.6	37	c.1516_splice	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350058	0.82132	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7657	0.96340	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FYB	39170874	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.326000	0.72905	2.649000	0.89929	0.655000	0.94253	.		PASS	0.338	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	Intron	43	146	43	146	---	---	---	---
PAIP1	10605	broad.mit.edu	37	5	43547830	43547830	+	Splice_Site	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:43547830C>A	ENST00000306846.3	-	3	853	c.621G>T	c.(619-621)caG>caT	p.Q207H	PAIP1_ENST00000514514.1_Splice_Site_p.Q128H|PAIP1_ENST00000436644.2_Splice_Site_p.Q128H|PAIP1_ENST00000338972.4_Splice_Site_p.Q95H	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	207	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.Q207H(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GCCAACATACCTGTTGATAGA	0.443																																						uc003job.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)CAG>CAT		poly(A) binding protein interacting protein 1							89.0	87.0	87.0					5																	43547830		2203	4300	6503	SO:0001630	splice_region_variant	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43547830C>A	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.621+1G>T	5.37:g.43547830C>A						PAIP1_uc003joa.2_Missense_Mutation_p.Q128H|PAIP1_uc010ivp.2_Missense_Mutation_p.Q128H|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.Q95H	p.Q207H	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			3	868	-	Lung NSC(6;2.07e-05)		207			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.621G>T	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285184	0.80803	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000515338	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	4.4	4.4	0.53042	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.43015	-0.9417	9	.	.	.	-12.3723	17.5167	0.87776	0.0:1.0:0.0:0.0	.	128;207;128	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	H	207;128;95;128;95;95;95	ENSP00000302768:Q207H;ENSP00000387729:Q128H;ENSP00000339622:Q95H;ENSP00000425084:Q128H;ENSP00000425675:Q95H;ENSP00000425736:Q95H	.	Q	-	3	2	PAIP1	43583587	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.968000	0.49224	2.443000	0.82685	0.563000	0.77884	CAG		PASS	0.443	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451	Missense_Mutation	54	122	54	122	---	---	---	---
CDK7	1022	broad.mit.edu	37	5	68568823	68568823	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:68568823A>C	ENST00000256443.3	+	10	922	c.819A>C	c.(817-819)caA>caC	p.Q273H	CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_Missense_Mutation_p.Q180H|CDK7_ENST00000514676.1_Missense_Mutation_p.Q236H	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)	p.Q273H(2)		endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		ATCTCATACAAGGCTTATTCT	0.358								Nucleotide excision repair (NER)																														uc003jvs.3																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(817-819)CAA>CAC	NER	cyclin-dependent kinase 7							85.0	78.0	80.0					5																	68568823		2203	4300	6503	SO:0001583	missense	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68568823A>C		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.819A>C	5.37:g.68568823A>C	ENSP00000256443:p.Gln273His					CDK7_uc003jvt.3_Missense_Mutation_p.Q232H|CDK7_uc003jvu.3_Missense_Mutation_p.Q180H	p.Q273H	NM_001799	NP_001790	P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	10	1000	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	273			Protein kinase.		Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	c.819A>C	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393885	0.62066	.	.	ENSG00000134058	ENST00000256443;ENST00000514676;ENST00000502604	T;T;T	0.65916	-0.18;-0.18;-0.18	5.42	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052940	0.85682	D	0.000000	T	0.59307	0.2184	L	0.39397	1.21	0.49051	D	0.999748	P;P	0.35155	0.487;0.484	P;B	0.47891	0.56;0.335	T	0.53401	-0.8444	9	.	.	.	.	8.4448	0.32836	0.788:0.0:0.212:0.0	.	236;273	D6RAD4;P50613	.;CDK7_HUMAN	H	273;236;180	ENSP00000256443:Q273H;ENSP00000422737:Q236H;ENSP00000422121:Q180H	.	Q	+	3	2	CDK7	68604579	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.417000	0.34770	0.997000	0.38969	0.533000	0.62120	CAA		PASS	0.358	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799		49	118	49	118	---	---	---	---
COL4A3BP	10087	broad.mit.edu	37	5	74676909	74676909	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:74676909A>T	ENST00000405807.4	-	16	2156	c.1735T>A	c.(1735-1737)Tat>Aat	p.Y579N	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.Y707N|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.Y553N|COL4A3BP_ENST00000508692.1_Intron	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	579	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)	p.Y579N(1)|p.Y707N(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TTAGCTACATATGTAATCTTG	0.363																																						uc011csu.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1735-1737)TAT>AAT		alpha 3 type IV collagen binding protein isoform							233.0	209.0	217.0					5																	74676909		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74676909A>T	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1735T>A	5.37:g.74676909A>T	ENSP00000383996:p.Tyr579Asn					COL4A3BP_uc003kds.2_Missense_Mutation_p.Y553N|COL4A3BP_uc003kdt.2_Missense_Mutation_p.Y707N|COL4A3BP_uc003kdu.2_Missense_Mutation_p.Y579N	p.Y579N	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	16	2157	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	579			START.		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.1735T>A	CCDS4028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.4|25.4	4.636100|4.636100	0.87760|0.87760	.|.	.|.	ENSG00000113163|ENSG00000113163	ENST00000508809|ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415	.|T;T;T	.|0.80123	.|-1.34;-1.34;-1.34	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Lipid-binding START (3);START-like domain (1);	.|0.056895	.|0.64402	.|D	.|0.000001	D|D	0.89774|0.89774	0.6812|0.6812	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.995;0.996;0.998	D|D	0.90971|0.90971	0.4820|0.4820	5|10	.|0.87932	.|D	.|0	-0.5379|-0.5379	16.1792|16.1792	0.81889|0.81889	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|579;707;553	.|Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	.|C43BP_HUMAN;.;.	K|N	80|184;579;707;553	.|ENSP00000383996:Y579N;ENSP00000369862:Y707N;ENSP00000261415:Y553N	.|ENSP00000261415:Y553N	I|Y	-|-	2|1	0|0	COL4A3BP|COL4A3BP	74712665|74712665	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.997000|0.997000	0.91878|0.91878	9.266000|9.266000	0.95659|0.95659	2.213000|2.213000	0.71641|0.71641	0.472000|0.472000	0.43445|0.43445	ATA|TAT		PASS	0.363	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		104	271	104	271	---	---	---	---
DMGDH	29958	broad.mit.edu	37	5	78322340	78322340	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:78322340C>T	ENST00000255189.3	-	13	2125	c.2097G>A	c.(2095-2097)atG>atA	p.M699I	DMGDH_ENST00000540686.1_Missense_Mutation_p.M319I|DMGDH_ENST00000380311.4_Missense_Mutation_p.M498I	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	699					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.M699I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GGCCTGCATTCATGATAGCGT	0.512																																						uc003kfs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(2095-2097)ATG>ATA		dimethylglycine dehydrogenase precursor							106.0	96.0	99.0					5																	78322340		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78322340C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2097G>A	5.37:g.78322340C>T	ENSP00000255189:p.Met699Ile					DMGDH_uc011cte.1_Missense_Mutation_p.M549I|DMGDH_uc011ctf.1_Missense_Mutation_p.M498I|DMGDH_uc011ctg.1_Missense_Mutation_p.M319I	p.M699I	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	13	2103	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	699					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.2097G>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125708	0.56721	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.52	5.52	0.82312	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.64676	1.99	0.80722	D	1	B;B;B;B	0.30104	0.078;0.268;0.007;0.036	B;B;B;B	0.33254	0.063;0.16;0.02;0.034	T	0.71388	-0.4608	10	0.32370	T	0.25	.	19.4299	0.94759	0.0:1.0:0.0:0.0	.	319;498;549;699	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	I	699;538;498;319;549	ENSP00000255189:M699I;ENSP00000430972:M538I;ENSP00000369667:M498I;ENSP00000439478:M319I	ENSP00000255189:M699I	M	-	3	0	DMGDH	78358096	1.000000	0.71417	0.995000	0.50966	0.642000	0.38348	7.669000	0.83911	2.607000	0.88179	0.561000	0.74099	ATG		PASS	0.512	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		66	166	66	166	---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132233979	132233979	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:132233979A>C	ENST00000265343.5	-	10	1711	c.1332T>G	c.(1330-1332)agT>agG	p.S444R	AFF4_ENST00000378595.3_Missense_Mutation_p.S444R	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	444	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S444R(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTACTTTCACTCTCTGAGT	0.522																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|skin(1)	5						c.(1330-1332)AGT>AGG		ALL1 fused gene from 5q31							156.0	139.0	145.0					5																	132233979		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132233979A>C	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1332T>G	5.37:g.132233979A>C	ENSP00000265343:p.Ser444Arg					AFF4_uc011cxk.1_Missense_Mutation_p.S122R|AFF4_uc003kye.1_Missense_Mutation_p.S444R	p.S444R	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1740	-		all_cancers(142;0.145)|Breast(839;0.198)	444			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.1332T>G	CCDS4164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.206122|4.206122	0.79127|0.79127	.|.	.|.	ENSG00000072364|ENSG00000072364	ENST00000265343;ENST00000378595|ENST00000425658	T;T|.	0.69926|.	-0.44;-0.44|.	5.85|5.85	2.23|2.23	0.28157|0.28157	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71324|0.71324	0.3326|0.3326	M|M	0.80183|0.80183	2.485|2.485	0.49687|0.49687	D|D	0.99981|0.99981	D;D|.	0.76494|.	0.999;0.997|.	D;D|.	0.81914|.	0.994;0.995|.	T|T	0.69687|0.69687	-0.5078|-0.5078	10|5	0.66056|.	D|.	0.02|.	-9.5035|-9.5035	9.6881|9.6881	0.40111|0.40111	0.7362:0.0:0.2638:0.0|0.7362:0.0:0.2638:0.0	.|.	444;444|.	Q9UHB7-2;Q9UHB7|.	.;AFF4_HUMAN|.	R|G	444|140	ENSP00000265343:S444R;ENSP00000367858:S444R|.	ENSP00000265343:S444R|.	S|V	-|-	3|2	2|0	AFF4|AFF4	132261878|132261878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.235000|1.235000	0.32671|0.32671	0.477000|0.477000	0.27464|0.27464	0.460000|0.460000	0.39030|0.39030	AGT|GTG		PASS	0.522	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		57	205	57	205	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140801374	140801374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:140801374G>T	ENST00000398587.2	+	1	613	c.580G>T	c.(580-582)Gag>Tag	p.E194*	PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Nonsense_Mutation_p.E194*|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	194	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E194*(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGAATCCAGAGCTAGTACT	0.562																																						uc003lkq.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(580-582)GAG>TAG		protocadherin gamma subfamily A, 11 isoform 1							41.0	45.0	44.0					5																	140801374		1988	4179	6167	SO:0001587	stop_gained	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140801374G>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.580G>T	5.37:g.140801374G>T	ENSP00000381589:p.Glu194*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.E194*|PCDHGA11_uc003lkp.1_Nonsense_Mutation_p.E194*	p.E194*	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	838	+			194			Extracellular (Potential).|Cadherin 2.		B7ZVY8|Q9Y5D8|Q9Y5D9	Nonsense_Mutation	SNP	ENST00000398587.2	37	c.580G>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	17.32	3.360064	0.61403	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	.	.	.	6.02	5.14	0.70334	.	0.000000	0.28895	U	0.013783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.3443	0.87306	0.0:0.125:0.8749:0.0	.	.	.	.	X	194	.	ENSP00000381589:E194X	E	+	1	0	PCDHGA11	140781558	1.000000	0.71417	0.886000	0.34754	0.133000	0.20885	5.569000	0.67391	1.535000	0.49220	-0.182000	0.12963	GAG		PASS	0.562	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		18	72	18	72	---	---	---	---
RELL2	285613	broad.mit.edu	37	5	141019704	141019704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:141019704G>T	ENST00000297164.3	+	5	1921	c.721G>T	c.(721-723)Gga>Tga	p.G241*	RELL2_ENST00000444782.1_Nonsense_Mutation_p.G241*|RELL2_ENST00000518856.1_Nonsense_Mutation_p.G175*|FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000521367.1_Nonsense_Mutation_p.G175*|FCHSD1_ENST00000435817.2_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	241					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G241*(1)		large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAATGGAGGACTCAGGGA	0.667																																						uc003lli.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(721-723)GGA>TGA		RELT-like 2							47.0	46.0	46.0					5																	141019704		2203	4299	6502	SO:0001587	stop_gained	285613					integral to membrane|plasma membrane		g.chr5:141019704G>T	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.721G>T	5.37:g.141019704G>T	ENSP00000297164:p.Gly241*					RELL2_uc003llh.2_Nonsense_Mutation_p.G241*|RELL2_uc003llg.2_Nonsense_Mutation_p.G175*|RELL2_uc010jgf.2_Nonsense_Mutation_p.G175*|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR	p.G241*	NM_001130029	NP_001123501	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1569	+			241					D3DQE2|Q6P4E7|Q6UXY2	Nonsense_Mutation	SNP	ENST00000297164.3	37	c.721G>T	CCDS4265.1	.	.	.	.	.	.	.	.	.	.	G	40	8.034478	0.98621	.	.	ENSG00000164620	ENST00000444782;ENST00000521367;ENST00000297164;ENST00000518856	.	.	.	5.24	0.268	0.15626	.	0.581113	0.16589	N	0.207864	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-0.051	8.5258	0.33304	0.4207:0.0:0.5793:0.0	.	.	.	.	X	241;175;241;175	.	ENSP00000297164:G241X	G	+	1	0	RELL2	140999888	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	0.549000	0.23329	-0.023000	0.13963	-0.137000	0.14449	GGA		PASS	0.667	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		4	82	4	82	---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149441342	149441342	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:149441342G>A	ENST00000286301.3	-	12	1988	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	566	Regulatory juxtamembrane domain.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.P566L(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CAGCTGCGTGGGGTCGATGAA	0.552																																						uc003lrl.2																			2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(1696-1698)CCC>CTC		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						185.0	175.0	178.0					5																	149441342		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149441342G>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1697C>T	5.37:g.149441342G>A	ENSP00000286301:p.Pro566Leu					CSF1R_uc011dcd.1_Missense_Mutation_p.P418L|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.P566L	p.P566L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		11	1892	-			566			Cytoplasmic (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1697C>T	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929679	0.73327	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	D	0.97906	-4.6	4.56	3.7	0.42460	Protein kinase-like domain (1);	0.000000	0.49305	D	0.000144	D	0.98695	0.9562	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	D	0.99449	1.0940	10	0.87932	D	0	.	12.6447	0.56728	0.0803:0.0:0.9197:0.0	.	418;566	B4E2Y8;P07333	.;CSF1R_HUMAN	L	566;418	ENSP00000286301:P566L	ENSP00000286301:P566L	P	-	2	0	CSF1R	149421535	1.000000	0.71417	0.994000	0.49952	0.645000	0.38454	9.615000	0.98356	1.138000	0.42230	0.448000	0.29417	CCC		PASS	0.552	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		91	216	91	216	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156593032	156593032	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:156593032T>A	ENST00000302938.4	-	1	243	c.148A>T	c.(148-150)Aat>Tat	p.N50Y		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	50						nucleus (GO:0005634)		p.N50Y(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGAATAAAATTACTCTCGAAC	0.458																																						uc003lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(148-150)AAT>TAT		family with sequence similarity 71, member B							141.0	137.0	139.0					5																	156593032		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156593032T>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.148A>T	5.37:g.156593032T>A	ENSP00000305596:p.Asn50Tyr						p.N50Y	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	248	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	50					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.148A>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.645625	0.29246	.	.	ENSG00000170613	ENST00000302938	T	0.04970	3.52	4.79	3.88	0.44766	.	0.415951	0.22524	N	0.058940	T	0.07188	0.0182	L	0.47716	1.5	0.25816	N	0.98435	P	0.47677	0.899	B	0.40534	0.332	T	0.18461	-1.0336	10	0.87932	D	0	-27.1598	9.5727	0.39438	0.0:0.8989:0.0:0.1011	.	50	Q8TC56	FA71B_HUMAN	Y	50	ENSP00000305596:N50Y	ENSP00000305596:N50Y	N	-	1	0	FAM71B	156525610	0.905000	0.30787	0.905000	0.35620	0.036000	0.12997	1.409000	0.34680	1.308000	0.44962	-0.182000	0.12963	AAT		PASS	0.458	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		96	310	96	310	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169230202	169230202	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:169230202C>A	ENST00000256935.8	+	26	2775	c.2695C>A	c.(2695-2697)Cag>Aag	p.Q899K	DOCK2_ENST00000520908.1_Missense_Mutation_p.Q391K|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	899					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.Q899K(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)			CCTTAGCTACCAGGATGCGGT	0.478																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(2695-2697)CAG>AAG		dedicator of cytokinesis 2							125.0	105.0	111.0					5																	169230202		2203	4300	6503	SO:0001583	missense	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.chr5:169230202C>A	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.2695C>A	5.37:g.169230202C>A	ENSP00000256935:p.Gln899Lys					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Q391K	p.Q899K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	2775	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	899					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2695C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	6.219	0.408604	0.11812	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.67345	-0.26;-0.26;-0.26	5.44	5.44	0.79542	.	0.253910	0.47093	D	0.000242	T	0.39200	0.1069	N	0.02539	-0.55	0.80722	D	1	B;B	0.27068	0.167;0.118	B;B	0.18263	0.021;0.016	T	0.49960	-0.8883	10	0.02654	T	1	.	19.6391	0.95749	0.0:1.0:0.0:0.0	.	391;899	E7ERW7;Q92608	.;DOCK2_HUMAN	K	899;280;391;103	ENSP00000256935:Q899K;ENSP00000429283:Q391K;ENSP00000428841:Q103K	ENSP00000256935:Q899K	Q	+	1	0	DOCK2	169162780	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	3.645000	0.54389	2.715000	0.92844	0.655000	0.94253	CAG		PASS	0.478	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		70	112	70	112	---	---	---	---
DUSP22	56940	broad.mit.edu	37	6	348265	348265	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr6:348265G>T	ENST00000344450.5	+	6	869	c.426G>T	c.(424-426)gaG>gaT	p.E142D	DUSP22_ENST00000604971.1_Missense_Mutation_p.E39D|DUSP22_ENST00000605035.1_Missense_Mutation_p.E39D|DUSP22_ENST00000605863.1_Missense_Mutation_p.E39D|DUSP22_ENST00000419235.2_Missense_Mutation_p.E142D|DUSP22_ENST00000605315.1_Missense_Mutation_p.E39D|DUSP22_ENST00000603453.1_Missense_Mutation_p.E39D	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	142					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E142D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGAAGCATGAGGTCCATCAGG	0.582																																						uc003msx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(424-426)GAG>GAT		dual specificity phosphatase 22							99.0	90.0	93.0					6																	348265		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348265G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.426G>T	6.37:g.348265G>T	ENSP00000345281:p.Glu142Asp					DUSP22_uc011dhn.1_Missense_Mutation_p.E142D|DUSP22_uc003msy.1_Missense_Mutation_p.E99D	p.E142D	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	6	865	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	142					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.426G>T	CCDS4468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.99|11.99	1.803915|1.803915	0.31869|0.31869	.|.	.|.	ENSG00000112679|ENSG00000112679	ENST00000344450|ENST00000419235	T|.	0.04502|.	3.61|.	5.82|5.82	-2.8|-2.8	0.05823|0.05823	Dual specificity phosphatase, subgroup, catalytic domain (1);|.	0.137261|.	0.50627|.	D|.	0.000108|.	T|T	0.24236|0.24236	0.0587|0.0587	L|L	0.32530|0.32530	0.975|0.975	0.35936|0.35936	D|D	0.832903|0.832903	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.18023|0.18023	-1.0350|-1.0350	10|5	0.12430|.	T|.	0.62|.	.|.	8.4646|8.4646	0.32949|0.32949	0.3042:0.0:0.5165:0.1793|0.3042:0.0:0.5165:0.1793	.|.	142;99;142|.	Q9NRW4-2;B3KSA8;Q9NRW4|.	.;.;DUS22_HUMAN|.	D|C	142|80	ENSP00000345281:E142D|.	ENSP00000345281:E142D|.	E|G	+|+	3|1	2|0	DUSP22|DUSP22	293265|293265	0.998000|0.998000	0.40836|0.40836	0.821000|0.821000	0.32701|0.32701	0.937000|0.937000	0.57800|0.57800	0.498000|0.498000	0.22530|0.22530	-0.428000|-0.428000	0.07339|0.07339	-0.302000|-0.302000	0.09304|0.09304	GAG|GGT		PASS	0.582	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		25	303	25	303	---	---	---	---
OR11A1	26531	broad.mit.edu	37	6	29395006	29395006	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr6:29395006C>A	ENST00000377149.1	-	5	885	c.413G>T	c.(412-414)gGg>gTg	p.G138V	OR11A1_ENST00000377148.1_Missense_Mutation_p.G138V|OR11A1_ENST00000377147.2_Missense_Mutation_p.G138V|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G138V(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CCGTCTGGGCCCCATCAGGAG	0.577																																						uc003nmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)GGG>GTG		olfactory receptor, family 11, subfamily A,							72.0	80.0	78.0					6																	29395006		1506	2707	4213	SO:0001583	missense	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29395006C>A		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.413G>T	6.37:g.29395006C>A	ENSP00000366354:p.Gly138Val						p.G138V	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	504	-			138			Cytoplasmic (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	c.413G>T	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	C	5.355	0.250851	0.10130	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.02421	4.3;4.3;4.3	3.78	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	4.085530	0.00991	N	0.003530	T	0.01421	0.0046	L	0.43923	1.385	0.24891	N	0.992163	P	0.43826	0.818	B	0.40477	0.33	T	0.43893	-0.9363	10	0.66056	D	0.02	-8.1788	5.5698	0.17190	0.199:0.697:0.0:0.104	.	138	Q9GZK7	O11A1_HUMAN	V	138	ENSP00000366353:G138V;ENSP00000366354:G138V;ENSP00000366352:G138V	ENSP00000366352:G138V	G	-	2	0	OR11A1	29502985	0.000000	0.05858	0.488000	0.27440	0.194000	0.23727	-0.835000	0.04386	0.765000	0.33221	0.405000	0.27470	GGG		PASS	0.577	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			69	59	69	59	---	---	---	---
NFKBIL1	4795	broad.mit.edu	37	6	31526324	31526324	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr6:31526324G>T	ENST00000376148.4	+	4	1196	c.1082G>T	c.(1081-1083)cGt>cTt	p.R361L	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.R346L	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	361					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)		p.R361L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GAGCTGGGCCGTGTGATGGGA	0.617																																						uc003nub.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)CGT>CTT		nuclear factor of kappa light polypeptide gene							15.0	9.0	11.0					6																	31526324		1504	2691	4195	SO:0001583	missense	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31526324G>T	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.1082G>T	6.37:g.31526324G>T	ENSP00000365318:p.Arg361Leu					NFKBIL1_uc011dnr.1_Missense_Mutation_p.R323L|NFKBIL1_uc011dns.1_Missense_Mutation_p.R338L|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.R346L	p.R361L	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN			4	1201	+			361					A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Missense_Mutation	SNP	ENST00000376148.4	37	c.1082G>T	CCDS4700.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226089	0.58668	.	.	ENSG00000204498	ENST00000376146;ENST00000376148;ENST00000376145	T;T;T	0.37752	1.62;1.18;1.57	5.33	4.26	0.50523	.	0.146245	0.41001	D	0.000979	T	0.17280	0.0415	L	0.46157	1.445	0.22435	N	0.999104	P;D;P	0.53151	0.918;0.958;0.918	B;B;B	0.41299	0.238;0.353;0.353	T	0.07195	-1.0785	10	0.72032	D	0.01	-11.2288	9.7808	0.40647	0.1096:0.0:0.8904:0.0	.	338;346;361	Q5STV6;Q5STV4;Q9UBC1	.;.;IKBL1_HUMAN	L	338;361;346	ENSP00000365316:R338L;ENSP00000365318:R361L;ENSP00000365315:R346L	ENSP00000365315:R346L	R	+	2	0	NFKBIL1	31634303	0.999000	0.42202	0.949000	0.38748	0.987000	0.75469	3.734000	0.55037	2.501000	0.84356	0.655000	0.94253	CGT		PASS	0.617	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3	NM_005007		7	3	7	3	---	---	---	---
WDR46	9277	broad.mit.edu	37	6	33256237	33256237	+	Missense_Mutation	SNP	G	G	A	rs34704405	byFrequency	TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr6:33256237G>A	ENST00000374617.4	-	4	727	c.371C>T	c.(370-372)tCt>tTt	p.S124F	WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000395131.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	124			S -> Y (in dbSNP:rs34704405).				poly(A) RNA binding (GO:0044822)	p.S124F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TTTGGCTTTAGAATGTGGTAG	0.512																																						uc003ods.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)TCT>TTT		WD repeat domain 46 isoform 1							129.0	123.0	125.0					6																	33256237		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33256237G>A	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.371C>T	6.37:g.33256237G>A	ENSP00000363746:p.Ser124Phe					WDR46_uc011dra.1_Missense_Mutation_p.S70F|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	p.S124F	NM_005452	NP_005443	O15213	WDR46_HUMAN			4	415	-			124					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.371C>T	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.225368	0.01530	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.23950	2.04;1.88	4.09	3.18	0.36537	.	0.620611	0.16523	N	0.210712	T	0.09730	0.0239	L	0.50333	1.59	0.09310	N	1	B;B	0.32188	0.359;0.086	B;B	0.27500	0.08;0.023	T	0.11348	-1.0591	10	0.56958	D	0.05	-1.369	9.5839	0.39504	0.0:0.2145:0.7855:0.0	.	70;124	B4DP15;O15213	.;WDR46_HUMAN	F	124;59	ENSP00000363746:S124F;ENSP00000405568:S59F	ENSP00000363746:S124F	S	-	2	0	WDR46	33364215	0.025000	0.19082	0.001000	0.08648	0.014000	0.08584	2.268000	0.43338	1.013000	0.39391	0.442000	0.29010	TCT		PASS	0.512	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		230	188	230	188	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50696583	50696583	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr6:50696583G>T	ENST00000008391.3	+	4	841	c.613G>T	c.(613-615)Gtc>Ttc	p.V205F	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.V205F(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CACCTGTGTGGTCAACCCCAC	0.438																																						uc003paf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(1)	7						c.(613-615)GTC>TTC		transcription factor AP-2 beta-like 1							107.0	106.0	106.0					6																	50696583		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50696583G>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.613G>T	6.37:g.50696583G>T	ENSP00000008391:p.Val205Phe					TFAP2D_uc011dwt.1_RNA	p.V205F	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			4	1125	+	Lung NSC(77;0.0334)		205						Missense_Mutation	SNP	ENST00000008391.3	37	c.613G>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166302	0.94768	.	.	ENSG00000008197	ENST00000008391	D	0.97553	-4.43	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	L	0.32530	0.975	0.80722	D	1	P	0.43826	0.818	P	0.58520	0.84	D	0.96566	0.9419	10	0.46703	T	0.11	-8.198	20.0371	0.97565	0.0:0.0:1.0:0.0	.	205	Q7Z6R9	AP2D_HUMAN	F	205	ENSP00000008391:V205F	ENSP00000008391:V205F	V	+	1	0	TFAP2D	50804542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.734000	0.93682	0.655000	0.94253	GTC		PASS	0.438	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		147	132	147	132	---	---	---	---
ANKRD6	22881	broad.mit.edu	37	6	90323537	90323537	+	Silent	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr6:90323537T>A	ENST00000522441.1	+	7	1184	c.543T>A	c.(541-543)gcT>gcA	p.A181A	ANKRD6_ENST00000447838.2_Silent_p.A181A|ANKRD6_ENST00000369408.5_Silent_p.A181A|ANKRD6_ENST00000485637.1_Silent_p.A181A|ANKRD6_ENST00000520793.1_Silent_p.A148A|ANKRD6_ENST00000339746.4_Silent_p.A181A	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	181					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A181A(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TGCACGTTGCTGCGCGCTATA	0.433																																						uc003pni.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(541-543)GCT>GCA		ankyrin repeat domain 6							113.0	111.0	112.0					6																	90323537		1994	4171	6165	SO:0001819	synonymous_variant	22881						protein binding	g.chr6:90323537T>A	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.543T>A	6.37:g.90323537T>A						ANKRD6_uc003pne.3_Silent_p.A181A|ANKRD6_uc003pnf.3_Silent_p.A181A|ANKRD6_uc011dzy.1_Silent_p.A181A|ANKRD6_uc010kcd.2_Silent_p.A148A|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR	p.A181A	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	7	884	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	181			ANK 6.		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	c.543T>A	CCDS56441.1																																																																																				PASS	0.433	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			26	43	26	43	---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132649614	132649614	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr6:132649614G>C	ENST00000367963.3	-	5	901	c.783C>G	c.(781-783)aaC>aaG	p.N261K	MOXD1_ENST00000336749.3_Missense_Mutation_p.N193K	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	261						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.N261K(1)|p.N193K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CATCGGGCATGTTGGGGTGAT	0.502																																						uc003qdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(781-783)AAC>AAG		monooxygenase, DBH-like 1 isoform 2							159.0	137.0	145.0					6																	132649614		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132649614G>C	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.783C>G	6.37:g.132649614G>C	ENSP00000356940:p.Asn261Lys					MOXD1_uc003qde.2_Missense_Mutation_p.N193K	p.N261K	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	5	882	-	Breast(56;0.0495)		261			Lumenal (Potential).		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.783C>G	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614415	0.66672	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.33654	1.4;1.4	5.13	3.29	0.37713	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	M	0.76574	2.34	0.80722	D	1	P;P	0.42692	0.62;0.787	P;B	0.47430	0.547;0.426	T	0.32851	-0.9891	10	0.66056	D	0.02	-2.0485	11.542	0.50672	0.1489:0.0:0.8511:0.0	.	261;193	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	K	261;193	ENSP00000356940:N261K;ENSP00000336998:N193K	ENSP00000336998:N193K	N	-	3	2	MOXD1	132691307	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.157000	0.42320	1.249000	0.43950	0.655000	0.94253	AAC		PASS	0.502	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		42	88	42	88	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	149983278	149983278	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr6:149983278C>T	ENST00000543571.1	-	8	3527	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	LATS1_ENST00000253339.5_Missense_Mutation_p.D994N	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.D994N(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCTAAGCGATCTTCGGGTCCT	0.403																																						uc003qmu.1																			2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)	6						c.(2980-2982)GAT>AAT		LATS homolog 1							115.0	120.0	118.0					6																	149983278		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:149983278C>T	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2980G>A	6.37:g.149983278C>T	ENSP00000437550:p.Asp994Asn					LATS1_uc010kif.1_Missense_Mutation_p.D889N	p.D994N	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	8	3528	-		Ovarian(120;0.0164)	994			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2980G>A	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733882	0.48939	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.65549	-0.16;-0.16	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000067	T	0.35624	0.0938	N	0.17922	0.545	0.80722	D	1	B	0.21753	0.06	B	0.25987	0.065	T	0.24297	-1.0164	9	.	.	.	.	19.2848	0.94066	0.0:1.0:0.0:0.0	.	994	O95835	LATS1_HUMAN	N	994	ENSP00000437550:D994N;ENSP00000253339:D994N	.	D	-	1	0	LATS1	150024971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.562000	0.86427	0.591000	0.81541	GAT		PASS	0.403	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		6	287	6	287	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152770762	152770762	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr6:152770762G>C	ENST00000367255.5	-	28	4011	c.3410C>G	c.(3409-3411)tCa>tGa	p.S1137*	SYNE1_ENST00000367253.4_Nonsense_Mutation_p.S1137*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.S1144*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.S1144*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.S1137*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.S1203*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.S1127*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.S1137*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1137					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.S1137*(2)|p.S1144*(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)		TATCCAAGATGAGAACTCAGA	0.383										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Nonsense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3409-3411)TCA>TGA		spectrin repeat containing, nuclear envelope 1							91.0	86.0	88.0					6																	152770762		2203	4300	6503	SO:0001587	stop_gained	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.chr6:152770762G>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.3410C>G	6.37:g.152770762G>C	ENSP00000356224:p.Ser1137*	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Nonsense_Mutation_p.S1144*|SYNE1_uc003qou.3_Nonsense_Mutation_p.S1137*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.S1120*|SYNE1_uc003qow.2_Nonsense_Mutation_p.S432*|SYNE1_uc003qox.1_Nonsense_Mutation_p.S653*	p.S1137*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	28	4012	-		Ovarian(120;0.0955)	1137			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.3410C>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	41	8.723392	0.98929	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	.	.	.	6.07	5.21	0.72293	.	0.263694	0.27206	N	0.020422	.	.	.	.	.	.	0.31874	N	0.619321	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	9.162	0.37028	0.0737:0.0:0.7812:0.1451	.	.	.	.	X	1137;1144;1137;1144;1203;1137;1127;1137	.	ENSP00000265368:S1137X	S	-	2	0	SYNE1	152812455	0.987000	0.35691	0.020000	0.16555	0.033000	0.12548	3.824000	0.55723	1.587000	0.49959	-0.136000	0.14681	TCA		PASS	0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	135	6	135	---	---	---	---
PRR18	285800	broad.mit.edu	37	6	166720810	166720810	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr6:166720810T>A	ENST00000322583.3	-	1	1061	c.821A>T	c.(820-822)gAg>gTg	p.E274V		NM_175922.3	NP_787118.2	Q8N4B5	PRR18_HUMAN	proline rich 18	274								p.E274V(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	3		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		agccgcggACTCCACGCCGCG	0.741																																						uc003quw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)GAG>GTG		proline rich region 18							9.0	8.0	8.0					6																	166720810		2144	4168	6312	SO:0001583	missense	285800					endoplasmic reticulum		g.chr6:166720810T>A	BC034775	CCDS5291.1	6q27	2009-01-27	2009-01-27						28574	protein-coding gene	gene with protein product			"""proline rich region 18"""			12477932	Standard	NM_175922		Approved	MGC35308	uc003quw.1	Q8N4B5		ENST00000322583.3:c.821A>T	6.37:g.166720810T>A	ENSP00000319590:p.Glu274Val						p.E274V	NM_175922	NP_787118	Q8N4B5	PRR18_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)	1	1062	-		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)	274						Missense_Mutation	SNP	ENST00000322583.3	37	c.821A>T	CCDS5291.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525315	0.85600	.	.	ENSG00000176381	ENST00000322583	T	0.63580	-0.05	3.38	3.38	0.38709	.	0.238805	0.23678	U	0.045645	T	0.58793	0.2147	L	0.34521	1.04	0.43617	D	0.995999	D	0.76494	0.999	D	0.81914	0.995	T	0.64863	-0.6307	10	0.87932	D	0	.	10.8111	0.46547	0.0:0.0:0.0:1.0	.	274	Q8N4B5	PRR18_HUMAN	V	274	ENSP00000319590:E274V	ENSP00000319590:E274V	E	-	2	0	PRR18	166640800	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.617000	0.46385	1.408000	0.46895	0.454000	0.30748	GAG		PASS	0.741	PRR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392563.3	NM_175922		4	7	4	7	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71743773	71743773	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr7:71743773C>A	ENST00000329008.5	-	2	314	c.16G>T	c.(16-18)Gtg>Ttg	p.V6L	CALN1_ENST00000395275.2_Missense_Mutation_p.V48L|CALN1_ENST00000431984.1_Missense_Mutation_p.V6L|CALN1_ENST00000405452.2_Missense_Mutation_p.V6L|CALN1_ENST00000412588.1_Missense_Mutation_p.V48L|CALN1_ENST00000395276.2_Missense_Mutation_p.V6L	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.V48L(1)|p.V6L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCGGCGGTCACATGGTGGAAC	0.507																																						uc003twa.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(16-18)GTG>TTG		calneuron 1 isoform 2							79.0	59.0	66.0					7																	71743773		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71743773C>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.16G>T	7.37:g.71743773C>A	ENSP00000332498:p.Val6Leu					CALN1_uc003twb.3_Missense_Mutation_p.V48L|CALN1_uc003twc.3_Missense_Mutation_p.V6L	p.V6L	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			2	543	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	6			Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.16G>T	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382181	0.95967	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.74632	-0.48;-0.47;-0.48;-0.48;-0.47;-0.48;-0.86	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.79862	0.4519	N	0.24115	0.695	0.46849	D	0.999222	D;D	0.64830	0.994;0.994	D;D	0.72625	0.978;0.978	T	0.81739	-0.0795	10	0.87932	D	0	-6.9385	19.3475	0.94370	0.0:1.0:0.0:0.0	.	6;6	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	L	6;48;6;6;48;6;6	ENSP00000332498:V6L;ENSP00000378690:V48L;ENSP00000378691:V6L;ENSP00000410704:V6L;ENSP00000391882:V48L;ENSP00000384354:V6L;ENSP00000411806:V6L	ENSP00000332498:V6L	V	-	1	0	CALN1	71381709	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.687000	0.68219	2.816000	0.96949	0.563000	0.77884	GTG		PASS	0.507	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		16	78	16	78	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87792420	87792420	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr7:87792420G>T	ENST00000265727.7	+	23	2080	c.2001G>T	c.(1999-2001)agG>agT	p.R667S	ADAM22_ENST00000398204.4_Missense_Mutation_p.R667S|ADAM22_ENST00000315984.7_Missense_Mutation_p.R667S|ADAM22_ENST00000398209.3_Missense_Mutation_p.R667S|ADAM22_ENST00000398201.4_Missense_Mutation_p.R667S			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	667	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R667S(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TAGAACACAGGTGTCTTCCTG	0.428																																						uc003ujn.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1999-2001)AGG>AGT		ADAM metallopeptidase domain 22 isoform 1							166.0	150.0	155.0					7																	87792420		1869	4106	5975	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87792420G>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2001G>T	7.37:g.87792420G>T	ENSP00000265727:p.Arg667Ser					ADAM22_uc003ujk.1_Missense_Mutation_p.R667S|ADAM22_uc003ujl.1_Missense_Mutation_p.R667S|ADAM22_uc003ujm.2_Missense_Mutation_p.R667S|ADAM22_uc003ujo.2_Missense_Mutation_p.R667S|ADAM22_uc003ujp.1_Missense_Mutation_p.R719S	p.R667S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	2080	+	Esophageal squamous(14;0.00202)		667			Cys-rich.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2001G>T	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745527	0.69418	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.44083	4.49;4.49;4.49;4.51;4.5;4.5;0.93	5.84	-3.21	0.05140	ADAM, cysteine-rich (1);	0.046558	0.85682	D	0.000000	T	0.47488	0.1448	L	0.38953	1.18	0.40943	D	0.984487	D;D;D;D	0.67145	0.992;0.995;0.992;0.996	P;D;P;P	0.65323	0.86;0.934;0.86;0.889	T	0.47674	-0.9099	10	0.87932	D	0	.	14.5668	0.68182	0.7799:0.0:0.2201:0.0	.	719;667;667;667	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	S	667;667;667;667;667;634;25	ENSP00000381262:R667S;ENSP00000381260:R667S;ENSP00000265727:R667S;ENSP00000315900:R667S;ENSP00000381267:R667S;ENSP00000381261:R634S;ENSP00000396233:R25S	ENSP00000265727:R667S	R	+	3	2	ADAM22	87630356	0.878000	0.30173	0.932000	0.37286	0.982000	0.71751	0.012000	0.13287	-0.788000	0.04504	0.655000	0.94253	AGG		PASS	0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		83	262	83	262	---	---	---	---
ASNS	440	broad.mit.edu	37	7	97486048	97486048	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr7:97486048T>C	ENST00000394309.3	-	8	1455	c.984A>G	c.(982-984)atA>atG	p.I328M	ASNS_ENST00000422745.1_Missense_Mutation_p.I307M|ASNS_ENST00000437628.1_Missense_Mutation_p.I245M|ASNS_ENST00000444334.1_Missense_Mutation_p.I307M|ASNS_ENST00000455086.1_Missense_Mutation_p.I245M|ASNS_ENST00000175506.4_Missense_Mutation_p.I328M|ASNS_ENST00000394308.3_Missense_Mutation_p.I328M	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	328	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.I328M(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAAGGAAAATATGACTTCAT	0.308																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(982-984)ATA>ATG		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						84.0	86.0	85.0					7																	97486048		2203	4299	6502	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97486048T>C	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.984A>G	7.37:g.97486048T>C	ENSP00000377846:p.Ile328Met					ASNS_uc011kin.1_Missense_Mutation_p.I245M|ASNS_uc003uou.3_Missense_Mutation_p.I328M|ASNS_uc003uov.3_Missense_Mutation_p.I328M|ASNS_uc011kio.1_Missense_Mutation_p.I307M|ASNS_uc003uow.3_Missense_Mutation_p.I307M|ASNS_uc003uox.3_Missense_Mutation_p.I245M	p.I328M	NM_133436	NP_597680	P08243	ASNS_HUMAN			8	1490	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		328			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.984A>G	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.232308	0.58777	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	4.37	1.69	0.24217	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.79475	2.455	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.61691	-0.7011	10	0.87932	D	0	-14.7517	5.1194	0.14852	0.1749:0.0:0.3611:0.464	.	328	P08243	ASNS_HUMAN	M	328;328;245;328;307;245;307	ENSP00000175506:I328M;ENSP00000377846:I328M;ENSP00000414379:I245M;ENSP00000377845:I328M;ENSP00000414901:I307M;ENSP00000408472:I245M;ENSP00000406994:I307M	ENSP00000175506:I328M	I	-	3	3	ASNS	97323984	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.121000	0.41977	0.763000	0.33175	0.454000	0.30748	ATA		PASS	0.308	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		51	174	51	174	---	---	---	---
LRCH4	4034	broad.mit.edu	37	7	100183504	100183504	+	Splice_Site	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr7:100183504C>T	ENST00000310300.6	-	1	272	c.220G>A	c.(220-222)Gac>Aac	p.D74N	FBXO24_ENST00000241071.6_5'Flank|LRCH4_ENST00000497245.1_5'Flank|FBXO24_ENST00000465843.1_5'Flank|FBXO24_ENST00000360609.2_5'Flank|FBXO24_ENST00000498195.1_Intron	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	74					nervous system development (GO:0007399)	PML body (GO:0016605)		p.D74N(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGCACTCACCAGCCTGGGTG	0.731																																						uc003uvj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(220-222)GAC>AAC		leucine-rich repeats and calponin homology (CH)							21.0	26.0	24.0					7																	100183504		2202	4299	6501	SO:0001630	splice_region_variant	4034				nervous system development	PML body	protein binding	g.chr7:100183504C>T	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.220+1G>A	7.37:g.100183504C>T						LRCH4_uc003uvi.2_5'Flank|LRCH4_uc011kjx.1_RNA|FBXO24_uc010lha.1_5'Flank|FBXO24_uc003uvl.1_5'Flank|FBXO24_uc003uvm.1_5'Flank|FBXO24_uc003uvn.1_5'Flank	p.D74N	NM_002319	NP_002310	O75427	LRCH4_HUMAN			1	273	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		74			LRR 2.		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.220G>A	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398669	0.96030	.	.	ENSG00000077454	ENST00000310300	T	0.58797	0.31	5.11	5.11	0.69529	.	0.056373	0.64402	D	0.000002	T	0.63663	0.2530	L	0.33137	0.985	0.80722	D	1	D	0.60575	0.988	D	0.66979	0.948	T	0.59742	-0.7397	9	.	.	.	-13.384	13.9546	0.64140	0.0:1.0:0.0:0.0	.	74	O75427	LRCH4_HUMAN	N	74	ENSP00000309689:D74N	.	D	-	1	0	LRCH4	100021440	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.608000	0.61141	2.682000	0.91365	0.555000	0.69702	GAC		PASS	0.731	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319	Missense_Mutation	3	60	3	60	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100349596	100349596	+	RNA	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr7:100349596C>G	ENST00000348028.3	+	0	2033				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S623*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCATTCCCTCAGAAAAACCC	0.478																																						uc003uwj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1867-1869)TCA>TGA		zonadhesin isoform 3							239.0	268.0	259.0					7																	100349596		1859	4105	5964			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349596C>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349596C>G						ZAN_uc003uwk.2_Nonsense_Mutation_p.S623*|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.S623*	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2033	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		623			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Nonsense_Mutation	SNP	ENST00000348028.3	37	c.1868C>G		.	.	.	.	.	.	.	.	.	.	c	33	5.244588	0.95272	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	.	.	.	2.88	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.51482	D	0.999929	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.9578	0.52991	0.0:1.0:0.0:0.0	.	.	.	.	X	623	.	ENSP00000423579:S623X	S	+	2	0	ZAN	100187532	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.105000	0.10907	1.923000	0.55706	0.430000	0.28490	TCA		PASS	0.478	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		37	111	37	111	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126544029	126544029	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr7:126544029C>G	ENST00000339582.2	-	5	1823	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	GRM8_ENST00000405249.1_Missense_Mutation_p.D339H|GRM8_ENST00000444921.2_Missense_Mutation_p.D339H|GRM8_ENST00000358373.3_Missense_Mutation_p.D339H|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	339					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.D339H(2)		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)				TTCTTACCATCAATTGATGCT	0.408										HNSCC(24;0.065)																												uc003vlr.2																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1015-1017)GAT>CAT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						46.0	57.0	53.0					7																	126544029		2201	4289	6490	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544029C>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.1015G>C	7.37:g.126544029C>G	ENSP00000344173:p.Asp339His	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.D339H|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.D60H	p.D339H	NM_000845	NP_000836	O00222	GRM8_HUMAN			4	1326	-		Prostate(267;0.186)	339			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1015G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293267	0.60086	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.85	4.85	0.62838	Extracellular ligand-binding receptor (1);	0.183131	0.46758	D	0.000266	D	0.84379	0.5459	L	0.55834	1.745	0.47994	D	0.999567	P;P;B	0.44195	0.82;0.828;0.257	P;P;B	0.52217	0.693;0.471;0.158	D	0.84692	0.0723	10	0.52906	T	0.07	.	10.5873	0.45290	0.0:0.9122:0.0:0.0878	.	339;339;339	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	H	339	ENSP00000344173:D339H;ENSP00000409790:D339H;ENSP00000351142:D339H;ENSP00000385731:D339H	ENSP00000344173:D339H	D	-	1	0	GRM8	126331265	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.211000	0.51137	2.247000	0.74100	0.508000	0.49915	GAT		PASS	0.408	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			55	315	55	315	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133884059	133884059	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr7:133884059C>T	ENST00000285928.2	+	14	1702	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	545	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.R545W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGGATATTTGCGGAGAAAAGG	0.358																																						uc003vrm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(1633-1635)CGG>TGG		leucine-rich repeats and guanylate kinase domain							107.0	116.0	113.0					7																	133884059		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133884059C>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1633C>T	7.37:g.133884059C>T	ENSP00000285928:p.Arg545Trp						p.R545W	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			14	1649	+			545			Guanylate kinase-like.		Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1633C>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506344	0.64410	.	.	ENSG00000155530	ENST00000285928	T	0.50001	0.76	6.17	3.3	0.37823	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.073666	0.53938	D	0.000047	T	0.70824	0.3268	M	0.85373	2.75	0.34795	D	0.736116	D	0.89917	1.0	D	0.80764	0.994	T	0.81805	-0.0764	10	0.87932	D	0	-21.9829	14.825	0.70104	0.5263:0.4737:0.0:0.0	.	545	Q96M69	LRGUK_HUMAN	W	545	ENSP00000285928:R545W	ENSP00000285928:R545W	R	+	1	2	LRGUK	133534599	0.954000	0.32549	0.721000	0.30653	0.924000	0.55760	1.255000	0.32909	0.419000	0.25927	-0.169000	0.13324	CGG		PASS	0.358	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		6	425	6	425	---	---	---	---
OR2F2	135948	broad.mit.edu	37	7	143632899	143632899	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr7:143632899A>G	ENST00000408955.2	+	1	641	c.574A>G	c.(574-576)Acc>Gcc	p.T192A		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T192A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTGTGTGGACACCTCCTCCAA	0.493																																						uc011ktv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(574-576)ACC>GCC		olfactory receptor, family 2, subfamily F,							167.0	151.0	157.0					7																	143632899		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632899A>G		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.574A>G	7.37:g.143632899A>G	ENSP00000386222:p.Thr192Ala						p.T192A	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	574	+	Melanoma(164;0.0903)		192			Extracellular (Potential).		A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.574A>G	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.285559	0.23478	.	.	ENSG00000221910	ENST00000408955	T	0.00235	8.48	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.240359	0.29587	N	0.011721	T	0.00300	0.0009	L	0.59967	1.855	0.09310	N	1	P	0.48834	0.916	P	0.52031	0.688	T	0.50320	-0.8842	10	0.59425	D	0.04	-11.9981	10.2613	0.43427	1.0:0.0:0.0:0.0	.	192	O95006	OR2F2_HUMAN	A	192	ENSP00000386222:T192A	ENSP00000386222:T192A	T	+	1	0	OR2F2	143263832	0.603000	0.26924	0.425000	0.26659	0.373000	0.29922	5.517000	0.67061	1.578000	0.49821	0.402000	0.26972	ACC		PASS	0.493	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			26	89	26	89	---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701878	143701878	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr7:143701878C>G	ENST00000408922.2	+	1	857	c.789C>G	c.(787-789)atC>atG	p.I263M		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I263M(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTCGAGTTATCCATGCCTTCA	0.428																																						uc003wdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(787-789)ATC>ATG		olfactory receptor, family 6, subfamily B,							144.0	134.0	137.0					7																	143701878		1964	4160	6124	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701878C>G		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.789C>G	7.37:g.143701878C>G	ENSP00000386151:p.Ile263Met						p.I263M	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	789	+	Melanoma(164;0.0783)		263			Extracellular (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.789C>G	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	C	8.714	0.912675	0.17907	.	.	ENSG00000221813	ENST00000408922	T	0.00174	8.62	5.26	0.175	0.15045	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37530	U	0.002045	T	0.00241	0.0007	N	0.25094	0.71	0.09310	N	1	P	0.36753	0.568	P	0.57425	0.82	T	0.44205	-0.9343	10	0.51188	T	0.08	.	8.717	0.34416	0.0:0.4742:0.0:0.5258	.	263	O95007	OR6B1_HUMAN	M	263	ENSP00000386151:I263M	ENSP00000386151:I263M	I	+	3	3	OR6B1	143332811	0.000000	0.05858	0.420000	0.26596	0.595000	0.36748	-0.543000	0.06084	-0.146000	0.11274	-0.136000	0.14681	ATC		PASS	0.428	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			81	240	81	240	---	---	---	---
RHEB	6009	broad.mit.edu	37	7	151181828	151181828	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr7:151181828C>A	ENST00000262187.5	-	3	599	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	63					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.G63W(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		CTTACTTGCCCGGCTGTGTCT	0.358																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)	uc003wkh.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(187-189)GGG>TGG		Ras homolog enriched in brain precursor							103.0	94.0	97.0					7																	151181828		2203	4300	6503	SO:0001583	missense	6009				cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	g.chr7:151181828C>A	D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.187G>T	7.37:g.151181828C>A	ENSP00000262187:p.Gly63Trp						p.G63W	NM_005614	NP_005605	Q15382	RHEB_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)	3	600	-			63					B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	c.187G>T	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553733	0.86231	.	.	ENSG00000106615	ENST00000262187	D	0.93763	-3.28	5.24	5.24	0.73138	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98150	0.9389	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99647	1.0990	10	0.87932	D	0	.	16.2982	0.82786	0.0:1.0:0.0:0.0	.	63	Q15382	RHEB_HUMAN	W	63	ENSP00000262187:G63W	ENSP00000262187:G63W	G	-	1	0	RHEB	150812761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.893000	0.75649	2.447000	0.82792	0.585000	0.79938	GGG		PASS	0.358	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614		36	100	36	100	---	---	---	---
RGS20	8601	broad.mit.edu	37	8	54791911	54791911	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:54791911T>A	ENST00000297313.3	+	2	351	c.259T>A	c.(259-261)Tct>Act	p.S87T	RGS20_ENST00000344277.6_Intron|RGS20_ENST00000522225.1_5'Flank|RGS20_ENST00000276500.4_5'Flank|RP11-1070A24.2_ENST00000606037.1_RNA	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	87					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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.S87T(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AAGGTTCTTCTCTCACCTTCT	0.711																																						uc003xrp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)TCT>ACT		regulator of G-protein signaling 20 isoform a							68.0	85.0	79.0					8																	54791911		2203	4300	6503	SO:0001583	missense	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54791911T>A	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.259T>A	8.37:g.54791911T>A	ENSP00000297313:p.Ser87Thr					RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	p.S87T	NM_170587	NP_733466	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		2	351	+			87					Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	c.259T>A	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404173	0.42613	.	.	ENSG00000147509	ENST00000297313	T	0.52295	0.67	4.05	0.0865	0.14446	.	.	.	.	.	T	0.33030	0.0849	L	0.40543	1.245	0.80722	D	1	B	0.29037	0.231	B	0.19946	0.027	T	0.10497	-1.0627	9	0.87932	D	0	.	7.1905	0.25822	0.1377:0.0:0.5548:0.3074	.	87	O76081	RGS20_HUMAN	T	87	ENSP00000297313:S87T	ENSP00000297313:S87T	S	+	1	0	RGS20	54954464	0.998000	0.40836	0.995000	0.50966	0.802000	0.45316	0.462000	0.21956	-0.051000	0.13334	0.459000	0.35465	TCT		PASS	0.711	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			93	299	93	299	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68184115	68184115	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:68184115T>C	ENST00000262215.3	-	10	1783	c.1394A>G	c.(1393-1395)cAg>cGg	p.Q465R		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	465					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.Q465R(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCTGCATTCTGCAGAATGGA	0.358																																						uc003xxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(1393-1395)CAG>CGG		brefeldin A-inhibited guanine							67.0	68.0	68.0					8																	68184115		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68184115T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1394A>G	8.37:g.68184115T>C	ENSP00000262215:p.Gln465Arg						p.Q465R	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		10	1784	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	465					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1394A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	t	26.2	4.710922	0.89112	.	.	ENSG00000066777	ENST00000262215	T	0.54866	0.55	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73920	-0.3830	10	0.54805	T	0.06	.	15.9765	0.80071	0.0:0.0:0.0:1.0	.	465	Q9Y6D6	BIG1_HUMAN	R	465	ENSP00000262215:Q465R	ENSP00000262215:Q465R	Q	-	2	0	ARFGEF1	68346669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.617000	0.83032	2.175000	0.68902	0.477000	0.44152	CAG		PASS	0.358	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		30	81	30	81	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71069128	71069128	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:71069128C>T	ENST00000452400.2	-	11	1653	c.1472G>A	c.(1471-1473)cGc>cAc	p.R491H	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	491					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|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)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.R491H(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGGGCTCATGCGATGCCTTGG	0.567			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(1471-1473)CGC>CAC		nuclear receptor coactivator 2							115.0	113.0	114.0					8																	71069128		1986	4150	6136	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069128C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1472G>A	8.37:g.71069128C>T	ENSP00000399968:p.Arg491His						p.R491H	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1634	-	Breast(64;0.201)		491					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.1472G>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224029	0.79576	.	.	ENSG00000140396	ENST00000452400	T	0.02763	4.17	5.93	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00288	-1.1845	10	0.87932	D	0	.	15.314	0.74059	0.0:0.9329:0.0:0.0671	.	491	Q15596	NCOA2_HUMAN	H	491	ENSP00000399968:R491H	ENSP00000399968:R491H	R	-	2	0	NCOA2	71231682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.625000	0.83145	1.510000	0.48803	0.655000	0.94253	CGC		PASS	0.567	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			42	117	42	117	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77764395	77764395	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:77764395G>A	ENST00000521891.2	+	10	5686	c.5238G>A	c.(5236-5238)acG>acA	p.T1746T	ZFHX4_ENST00000455469.2_Silent_p.T1701T|ZFHX4_ENST00000518282.1_Silent_p.T1720T|ZFHX4_ENST00000050961.6_Silent_p.T1701T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1701	Gln-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.T1746T(2)		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)			TACCTGGGACGGAGTTCAGCT	0.507										HNSCC(33;0.089)																												uc003yav.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5101-5103)ACG>ACA		zinc finger homeodomain 4							54.0	52.0	52.0					8																	77764395		2049	4230	6279	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764395G>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.5238G>A	8.37:g.77764395G>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.T1746T|ZFHX4_uc003yaw.1_Silent_p.T1701T	p.T1701T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5490	+			1701			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.5103G>A	CCDS47878.2																																																																																				PASS	0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		32	74	32	74	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113347704	113347704	+	Splice_Site	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:113347704C>T	ENST00000297405.5	-	45	7264		c.e45-1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		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						TGGTCCATCCCTATGAGACAA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Unknown(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.e45-1		CUB and Sushi multiple domains 3 isoform 1							90.0	82.0	85.0					8																	113347704		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113347704C>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.7020-1G>A	8.37:g.113347704C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Splice_Site_p.W1542_splice|CSMD3_uc003ynt.2_Splice_Site_p.W2300_splice|CSMD3_uc011lhx.1_Splice_Site_p.W2236_splice|CSMD3_uc003ynw.1_Splice_Site_p.W51_splice	p.W2340_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			45	7179	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.7020_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214848	0.79352	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4675	0.90761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113416880	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.548000	0.82154	2.674000	0.91012	0.585000	0.79938	.		PASS	0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	33	87	33	87	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113529362	113529362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:113529362G>A	ENST00000297405.5	-	28	4901	c.4657C>T	c.(4657-4659)Caa>Taa	p.Q1553*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q1513*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q1553*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1449*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1553	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q1513*(1)|p.Q1553*(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						GGGTCACATTGAAAAACAACA	0.498										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(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.(4657-4659)CAA>TAA		CUB and Sushi multiple domains 3 isoform 1							117.0	104.0	108.0					8																	113529362		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113529362G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4657C>T	8.37:g.113529362G>A	ENSP00000297405:p.Gln1553*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.Q825*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Q1513*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Q1449*	p.Q1553*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			28	4816	-			1553			Extracellular (Potential).|Sushi 8.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.4657C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	46	12.416473	0.99666	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.88	4.01	0.46588	.	0.381118	0.24899	N	0.034705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	13.2332	0.59955	0.077:0.0:0.923:0.0	.	.	.	.	X	1513;1553;893;1449;1553	.	ENSP00000297405:Q1553X	Q	-	1	0	CSMD3	113598538	1.000000	0.71417	0.939000	0.37840	0.987000	0.75469	6.363000	0.73082	1.282000	0.44496	0.585000	0.79938	CAA		PASS	0.498	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		41	137	41	137	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150232	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:133150232A>T	ENST00000388996.4	-	12	2020	c.1600T>A	c.(1600-1602)Ttc>Atc	p.F534I	KCNQ3_ENST00000519445.1_Missense_Mutation_p.F534I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.F414I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	534					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCTCCTTGAATTTTTTTTTA	0.453																																						uc003ytj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1600-1602)TTC>ATC		potassium voltage-gated channel KQT-like protein							104.0	101.0	102.0					8																	133150232		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150232A>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1600T>A	8.37:g.133150232A>T	ENSP00000373648:p.Phe534Ile					KCNQ3_uc010mdt.2_Missense_Mutation_p.F534I	p.F534I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	1825	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		534					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1600T>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	A	33	5.225963	0.95173	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99876	-7.41;-7.41;-7.41	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.101427	0.64402	D	0.000002	D	0.99854	0.9932	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96408	0.9302	10	0.87932	D	0	-22.2677	15.0416	0.71796	1.0:0.0:0.0:0.0	.	534;534	E7ET42;O43525	.;KCNQ3_HUMAN	I	534;414;534;523;413	ENSP00000373648:F534I;ENSP00000429799:F414I;ENSP00000428790:F534I	ENSP00000373648:F534I	F	-	1	0	KCNQ3	133219414	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.339000	0.96797	2.207000	0.71202	0.533000	0.62120	TTC		PASS	0.453	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		54	169	54	169	---	---	---	---
TG	7038	broad.mit.edu	37	8	133948102	133948102	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:133948102G>C	ENST00000220616.4	+	25	5074	c.5034G>C	c.(5032-5034)ttG>ttC	p.L1678F	TG_ENST00000377869.1_Missense_Mutation_p.L1621F|TG_ENST00000542445.1_Missense_Mutation_p.L112F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1678					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.L1678F(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGTGTATTTGAAAAAGGGTA	0.547																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(5032-5034)TTG>TTC		thyroglobulin precursor							94.0	78.0	83.0					8																	133948102		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133948102G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5034G>C	8.37:g.133948102G>C	ENSP00000220616:p.Leu1678Phe					TG_uc010mdw.2_Missense_Mutation_p.L437F|TG_uc011ljb.1_Missense_Mutation_p.L111F	p.L1678F	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	25	5075	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1678			Type IIIA.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5034G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.18|17.18	3.323200|3.323200	0.60634|0.60634	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445	.|T;T;T	.|0.72051	.|-0.62;-0.62;-0.62	6.16|6.16	5.29|5.29	0.74685|0.74685	.|.	.|1.841090	.|0.02327	.|N	.|0.073583	T|T	0.80352|0.80352	0.4607|0.4607	M|M	0.69823|0.69823	2.125|2.125	0.28436|0.28436	N|N	0.917025|0.917025	.|P;D	.|0.55800	.|0.928;0.973	.|P;P	.|0.50490	.|0.494;0.642	T|T	0.62714|0.62714	-0.6796|-0.6796	5|10	.|0.72032	.|D	.|0.01	.|.	11.5487|11.5487	0.50708|0.50708	0.0813:0.0:0.9186:0.0|0.0813:0.0:0.9186:0.0	.|.	.|112;1678	.|F5GWW5;P01266	.|.;THYG_HUMAN	Q|F	198|1621;484;1678;112	.|ENSP00000367100:L1621F;ENSP00000220616:L1678F;ENSP00000441693:L112F	.|ENSP00000220616:L1678F	E|L	+|+	1|3	0|2	TG|TG	134017284|134017284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.586000|0.586000	0.36452|0.36452	2.843000|2.843000	0.48238|0.48238	1.628000|1.628000	0.50416|0.50416	-0.145000|-0.145000	0.13849|0.13849	GAA|TTG		PASS	0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		24	59	24	59	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139255189	139255189	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:139255189G>T	ENST00000395297.1	-	7	835	c.665C>A	c.(664-666)tCa>tAa	p.S222*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	222								p.S222*(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTTACCTCTGAGGAAGTCGG	0.463										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|skin(2)	9						c.(664-666)TCA>TAA		hypothetical protein LOC51059							73.0	74.0	74.0					8																	139255189		1896	4110	6006	SO:0001587	stop_gained	51059							g.chr8:139255189G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.665C>A	8.37:g.139255189G>T	ENSP00000378710:p.Ser222*	HNSCC(54;0.14)				FAM135B_uc003yux.2_Nonsense_Mutation_p.S123*|FAM135B_uc003yuz.2_RNA	p.S222*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		7	836	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		222					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.665C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	39	7.585691	0.98374	.	.	ENSG00000147724	ENST00000395297	.	.	.	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8918	17.0154	0.86418	0.0:0.0:1.0:0.0	.	.	.	.	X	222	.	ENSP00000276737:S222X	S	-	2	0	FAM135B	139324371	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.734000	0.91543	2.441000	0.82636	0.655000	0.94253	TCA		PASS	0.463	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		22	120	22	120	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143614677	143614677	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:143614677C>T	ENST00000517894.1	+	25	4314	c.3420C>T	c.(3418-3420)tgC>tgT	p.C1140C	BAI1_ENST00000323289.5_Silent_p.C1140C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1140					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C1140C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGAGCTCCTGCGTGGTGCTGC	0.701																																						uc003ywm.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(3418-3420)TGC>TGT		brain-specific angiogenesis inhibitor 1							13.0	18.0	16.0					8																	143614677		2196	4281	6477	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143614677C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3420C>T	8.37:g.143614677C>T							p.C1140C	NM_001702	NP_001693	O14514	BAI1_HUMAN			24	3603	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1140			Helical; Name=6; (Potential).			Silent	SNP	ENST00000517894.1	37	c.3420C>T																																																																																					PASS	0.701	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		4	3	4	3	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143960554	143960554	+	Missense_Mutation	SNP	C	C	A	rs200867786		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:143960554C>A	ENST00000292427.4	-	2	321	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	CYP11B1_ENST00000377675.3_Missense_Mutation_p.V142L|CYP11B1_ENST00000517471.1_Missense_Mutation_p.V97L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	97					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.V97L(1)|p.V97M(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGCTTCTCCACGTCCTCCGGC	0.622									Familial Hyperaldosteronism type I																													uc003yxi.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)	3						c.(289-291)GTG>TTG		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						205.0	150.0	169.0					8																	143960554		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960554C>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.289G>T	8.37:g.143960554C>A	ENSP00000292427:p.Val97Leu					CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.V97L|CYP11B1_uc010mey.2_Missense_Mutation_p.V142L	p.V97L	NM_000497	NP_000488	P15538	C11B1_HUMAN			2	296	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		97					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.289G>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371139	0.42003	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.75367	-0.54;-0.54;-0.93	3.55	3.55	0.40652	.	0.766622	0.10813	N	0.631407	T	0.72187	0.3429	L	0.59436	1.845	0.19300	N	0.999972	P;P;P	0.42010	0.705;0.644;0.768	B;B;P	0.44811	0.247;0.426;0.461	T	0.58858	-0.7562	10	0.14656	T	0.56	.	10.9711	0.47441	0.0:1.0:0.0:0.0	.	142;97;97	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	L	97;97;142	ENSP00000292427:V97L;ENSP00000428043:V97L;ENSP00000366903:V142L	ENSP00000292427:V97L	V	-	1	0	CYP11B1	143957556	0.024000	0.19004	0.033000	0.17914	0.457000	0.32468	2.857000	0.48349	1.677000	0.50941	0.484000	0.47621	GTG		PASS	0.622	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			39	103	39	103	---	---	---	---
ZNF696	79943	broad.mit.edu	37	8	144378669	144378669	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr8:144378669G>T	ENST00000330143.3	+	3	1233	c.824G>T	c.(823-825)aGc>aTc	p.S275I		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S275I(1)		lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CAGGCCTTCAGCCAGAGCTCC	0.711																																						uc003yxy.3																			1	Substitution - Missense(1)		lung(1)		0						c.(823-825)AGC>ATC		zinc finger protein 696							18.0	22.0	20.0					8																	144378669		2201	4296	6497	SO:0001583	missense	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378669G>T	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.824G>T	8.37:g.144378669G>T	ENSP00000328515:p.Ser275Ile						p.S275I	NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	1233	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		275			C2H2-type 6.		A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	c.824G>T	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012945	0.54468	.	.	ENSG00000185730	ENST00000330143	T	0.19938	2.11	2.78	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21801	0.0525	L	0.55213	1.73	0.80722	D	1	D	0.62365	0.991	P	0.46339	0.513	T	0.02263	-1.1186	8	.	.	.	.	7.7722	0.29015	0.0:0.2613:0.7387:0.0	.	275	Q9H7X3	ZN696_HUMAN	I	275	ENSP00000328515:S275I	.	S	+	2	0	ZNF696	144450044	0.000000	0.05858	1.000000	0.80357	0.928000	0.56348	-0.161000	0.10026	1.554000	0.49487	0.551000	0.68910	AGC		PASS	0.711	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		6	18	6	18	---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	990423	990423	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr9:990423G>A	ENST00000190165.2	+	2	875	c.837G>A	c.(835-837)gtG>gtA	p.V279V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	279					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V279V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGGACCTGGTGAGCGCCGTGG	0.572																																						uc003zgw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(835-837)GTG>GTA		doublesex and mab-3 related transcription factor							71.0	69.0	70.0					9																	990423		2203	4300	6503	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990423G>A	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.837G>A	9.37:g.990423G>A							p.V279V	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	875	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	279					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.837G>A	CCDS6443.1																																																																																				PASS	0.572	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		50	54	50	54	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633641	32633641	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr9:32633641G>T	ENST00000242310.4	-	1	2026	c.1937C>A	c.(1936-1938)gCa>gAa	p.A646E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	646					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.A646E(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGAGAGAGTGCACCAAATGA	0.507																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1936-1938)GCA>GAA		TBP-associated factor RNA polymerase 1-like							123.0	118.0	120.0					9																	32633641		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633641G>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1937C>A	9.37:g.32633641G>T	ENSP00000418379:p.Ala646Glu					uc003zrh.1_RNA	p.A646E	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2027	-			646					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1937C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727498	0.30593	.	.	ENSG00000122728	ENST00000242310	T	0.07216	3.21	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.103264	0.64402	D	0.000003	T	0.05044	0.0135	N	0.15975	0.35	0.45979	D	0.99879	B	0.29671	0.254	B	0.39339	0.297	T	0.41556	-0.9502	10	0.10377	T	0.69	.	7.0483	0.25059	1.0E-4:0.0:0.9999:0.0	.	646	Q8IZX4	TAF1L_HUMAN	E	646	ENSP00000418379:A646E	ENSP00000418379:A646E	A	-	2	0	TAF1L	32623641	1.000000	0.71417	0.417000	0.26559	0.623000	0.37688	4.444000	0.60001	0.632000	0.30432	0.195000	0.17529	GCA		PASS	0.507	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			130	110	130	110	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75403364	75403364	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr9:75403364G>T	ENST00000297784.5	+	14	1534	c.994G>T	c.(994-996)Gac>Tac	p.D332Y	TMC1_ENST00000340019.3_Missense_Mutation_p.D332Y|TMC1_ENST00000396237.3_Missense_Mutation_p.D332Y	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	332					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.D332Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGAAACAGCAGACAACAAATT	0.398																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(994-996)GAC>TAC		transmembrane channel-like 1							79.0	74.0	76.0					9																	75403364		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75403364G>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.994G>T	9.37:g.75403364G>T	ENSP00000297784:p.Asp332Tyr					TMC1_uc010moz.1_Missense_Mutation_p.D290Y|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.D186Y|TMC1_uc010mpa.1_Missense_Mutation_p.D186Y	p.D332Y	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			14	1534	+			332			Cytoplasmic (Potential).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.994G>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745519	0.89663	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.53423	0.62;0.62;0.62	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.85630	2.765	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	0.76924	-0.2779	10	0.66056	D	0.02	-32.942	19.9766	0.97312	0.0:0.0:1.0:0.0	.	299;299;332	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	Y	332;332;299;299;299;326;332	ENSP00000297784:D332Y;ENSP00000341433:D332Y;ENSP00000379538:D332Y	ENSP00000297784:D332Y	D	+	1	0	TMC1	74593184	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	9.690000	0.98676	2.728000	0.93425	0.561000	0.74099	GAC		PASS	0.398	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			95	76	95	76	---	---	---	---
UBQLN1	29979	broad.mit.edu	37	9	86278932	86278932	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr9:86278932C>T	ENST00000376395.4	-	10	1998	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E	UBQLN1_ENST00000257468.7_Missense_Mutation_p.G464E	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	492					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.G492E(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TCCAGTGCTTCCTAATGCCCC	0.468																																					Melanoma(186;1284 2073 12755 14558 18426)	uc004amv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1474-1476)GGA>GAA		ubiquilin 1 isoform 1							153.0	140.0	144.0					9																	86278932		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86278932C>T	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1475G>A	9.37:g.86278932C>T	ENSP00000365576:p.Gly492Glu					UBQLN1_uc004amw.2_Missense_Mutation_p.G464E	p.G492E	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN			10	2049	-			492					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.1475G>A	CCDS6663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.254453|5.254453	0.95336|0.95336	.|.	.|.	ENSG00000135018|ENSG00000135018	ENST00000526134|ENST00000376395;ENST00000257468	.|T;T	.|0.56776	.|0.96;0.44	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.160331	.|0.45126	.|D	.|0.000390	T|T	0.72260|0.72260	0.3438|0.3438	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	.|P;D	.|0.54964	.|0.696;0.969	.|P;P	.|0.52856	.|0.535;0.711	T|T	0.73588|0.73588	-0.3935|-0.3935	5|10	.|0.38643	.|T	.|0.18	.|.	20.3312|20.3312	0.98718|0.98718	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|464;492	.|Q9UMX0-2;Q9UMX0	.|.;UBQL1_HUMAN	K|E	99|492;464	.|ENSP00000365576:G492E;ENSP00000257468:G464E	.|ENSP00000257468:G464E	E|G	-|-	1|2	0|0	UBQLN1|UBQLN1	85468752|85468752	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.975000|0.975000	0.68041|0.68041	6.241000|6.241000	0.72369|0.72369	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.468	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		75	200	75	200	---	---	---	---
C9orf89	84270	broad.mit.edu	37	9	95872921	95872921	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr9:95872921G>A	ENST00000375464.2	+	3	350	c.222G>A	c.(220-222)gaG>gaA	p.E74E	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	74	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)	p.E74E(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GGAGCGGTGAGCGGGACTGCC	0.642																																						uc004atd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)GAG>GAA		chromosome 9 open reading frame 89							85.0	84.0	85.0					9																	95872921		2203	4300	6503	SO:0001819	synonymous_variant	84270				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding	g.chr9:95872921G>A	AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"""Bcl10-interacting protein with CARD"""					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.222G>A	9.37:g.95872921G>A						C9orf89_uc004ate.2_RNA|C9orf89_uc004atf.2_RNA	p.E74E	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN			3	400	+			74			CARD.		Q5BJH8|Q9BSY2	Silent	SNP	ENST00000375464.2	37	c.222G>A	CCDS6702.2																																																																																				PASS	0.642	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	NM_032310		73	85	73	85	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101797359	101797359	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr9:101797359G>T	ENST00000375001.3	+	18	2566	c.2143G>T	c.(2143-2145)Ggg>Tgg	p.G715W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	715	Collagen-like 2.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.G715W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGCCCTCCTGGGGTCATGGG	0.617																																						uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(2143-2145)GGG>TGG		alpha 1 type XV collagen precursor							46.0	48.0	47.0					9																	101797359		2202	4298	6500	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101797359G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2143G>T	9.37:g.101797359G>T	ENSP00000364140:p.Gly715Trp						p.G715W	NM_001855	NP_001846	P39059	COFA1_HUMAN			18	2349	+		Acute lymphoblastic leukemia(62;0.0562)	715			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2143G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700504	0.30142	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.99369	-5.78	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.99404	4.55	0.48087	D	0.999583	D	0.89917	1.0	D	0.97110	1.0	D	0.97131	0.9818	10	0.87932	D	0	-17.7779	15.3046	0.73982	0.0:0.0:1.0:0.0	.	715	P39059	COFA1_HUMAN	W	715;685	ENSP00000364140:G715W	ENSP00000364140:G715W	G	+	1	0	COL15A1	100837180	1.000000	0.71417	0.968000	0.41197	0.106000	0.19336	5.265000	0.65519	2.676000	0.91093	0.655000	0.94253	GGG		PASS	0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		98	85	98	85	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116269689	116269689	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr9:116269689C>T	ENST00000374140.2	+	14	1417	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	RGS3_ENST00000350696.5_Missense_Mutation_p.P403L|RGS3_ENST00000317613.6_Missense_Mutation_p.P291L|RGS3_ENST00000343817.5_Missense_Mutation_p.P122L|RGS3_ENST00000394646.3_Missense_Mutation_p.P122L|RGS3_ENST00000374136.1_Missense_Mutation_p.P29L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	403					inactivation of MAPK activity (GO:0000188)|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)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.P403L(1)|p.P299L(1)|p.P291L(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGTCACCCCCCAACAAACGG	0.647																																						uc004bhq.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|lung(1)|skin(1)	3						c.(1207-1209)CCC>CTC		regulator of G-protein signalling 3 isoform 6							44.0	45.0	44.0					9																	116269689		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116269689C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1208C>T	9.37:g.116269689C>T	ENSP00000363255:p.Pro403Leu					RGS3_uc004bhr.2_Missense_Mutation_p.P291L|RGS3_uc004bhs.2_Missense_Mutation_p.P293L|RGS3_uc004bht.2_Missense_Mutation_p.P122L|RGS3_uc010muy.2_Missense_Mutation_p.P122L|RGS3_uc004bhu.2_Missense_Mutation_p.P29L	p.P403L	NM_144488	NP_652759	P49796	RGS3_HUMAN			14	1417	+			403					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.1208C>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263477	0.80358	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.70749	0.32;0.32;0.78;-0.17;-0.51	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	L	0.27053	0.805	0.80722	D	1	P;D;D;D;D;D	0.89917	0.954;1.0;1.0;1.0;1.0;0.999	P;D;D;D;D;D	0.91635	0.622;0.999;0.992;0.991;0.999;0.942	T	0.78952	-0.2001	10	0.72032	D	0.01	.	17.4545	0.87603	0.0:1.0:0.0:0.0	.	122;29;122;293;291;403	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	L	403;403;291;122;122;29	ENSP00000363255:P403L;ENSP00000259406:P403L;ENSP00000312844:P291L;ENSP00000340284:P122L;ENSP00000378141:P122L	ENSP00000312844:P291L	P	+	2	0	RGS3	115309510	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	4.925000	0.63425	2.793000	0.96121	0.655000	0.94253	CCC		PASS	0.647	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		14	80	14	80	---	---	---	---
WDR34	89891	broad.mit.edu	37	9	131396147	131396147	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr9:131396147T>C	ENST00000372715.2	-	9	1547	c.1487A>G	c.(1486-1488)cAg>cGg	p.Q496R	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	496						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)		p.Q496R(1)		central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						AGCCAAGAGCTGAGTCTGCTG	0.562																																						uc004bvq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(1486-1488)CAG>CGG		WD repeat domain 34							43.0	45.0	44.0					9																	131396147		2203	4299	6502	SO:0001583	missense	89891					cytoplasm		g.chr9:131396147T>C	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1487A>G	9.37:g.131396147T>C	ENSP00000361800:p.Gln496Arg					WDR34_uc004bvs.1_Missense_Mutation_p.Q487R|WDR34_uc004bvr.1_Missense_Mutation_p.Q468R	p.Q496R	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN			9	1611	-			496			WD 5.		Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.1487A>G	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	T	11.79	1.744156	0.30865	.	.	ENSG00000119333	ENST00000372715	T	0.27720	1.65	5.42	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.356504	0.33040	N	0.005357	T	0.31389	0.0795	M	0.79475	2.455	0.45541	D	0.998494	B	0.12630	0.006	B	0.21708	0.036	T	0.08452	-1.0721	10	0.15066	T	0.55	-14.963	8.8378	0.35123	0.0:0.2229:0.0:0.7771	.	496	Q96EX3	WDR34_HUMAN	R	496	ENSP00000361800:Q496R	ENSP00000361800:Q496R	Q	-	2	0	WDR34	130435968	0.996000	0.38824	0.967000	0.41034	0.440000	0.31957	2.083000	0.41615	0.378000	0.24764	-0.379000	0.06801	CAG		PASS	0.562	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		4	128	4	128	---	---	---	---
PFKP	5214	broad.mit.edu	37	10	3147652	3147652	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:3147652G>C	ENST00000381125.4	+	7	809	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	PFKP_ENST00000381075.2_Missense_Mutation_p.E237Q	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	245	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.E237Q(1)|p.E245Q(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ATCTCCACCAGAGGAAGGCTG	0.582																																						uc001igp.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(733-735)GAG>CAG		phosphofructokinase, platelet							132.0	129.0	130.0					10																	3147652		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3147652G>C	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.733G>C	10.37:g.3147652G>C	ENSP00000370517:p.Glu245Gln					PFKP_uc001igq.2_Missense_Mutation_p.E237Q|PFKP_uc009xhr.2_Missense_Mutation_p.E207Q|PFKP_uc009xhs.1_Missense_Mutation_p.E29Q|PFKP_uc009xht.2_5'Flank	p.E245Q	NM_002627	NP_002618	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	7	769	+			245					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.733G>C	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	7.700	0.692948	0.15039	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000407806;ENST00000415005	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	4.71	2.82	0.32997	Phosphofructokinase domain (2);	0.188357	0.56097	N	0.000034	T	0.78464	0.4287	L	0.58302	1.8	0.80722	D	1	P;P	0.45768	0.566;0.866	B;P	0.45794	0.378;0.493	T	0.76080	-0.3090	10	0.49607	T	0.09	.	10.3307	0.43820	0.0745:0.1351:0.7904:0.0	.	237;245	Q5VSR7;Q01813	.;K6PP_HUMAN	Q	245;234;237;207;29	ENSP00000370517:E245Q;ENSP00000370465:E237Q;ENSP00000385880:E207Q;ENSP00000408858:E29Q	ENSP00000370465:E237Q	E	+	1	0	PFKP	3137652	1.000000	0.71417	0.011000	0.14972	0.002000	0.02628	3.794000	0.55492	0.506000	0.28125	-0.182000	0.12963	GAG		PASS	0.582	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		69	204	69	204	---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8100379	8100379	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:8100379C>T	ENST00000346208.3	+	3	808	c.353C>T	c.(352-354)tCc>tTc	p.S118F	GATA3_ENST00000379328.3_Missense_Mutation_p.S118F|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	118					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.S118F(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCCCTTCTCCAAGACGTCC	0.706			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2				Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		1	Substitution - Missense(1)		lung(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(352-354)TCC>TTC		GATA binding protein 3 isoform 2							69.0	83.0	78.0					10																	8100379		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100379C>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.353C>T	10.37:g.8100379C>T	ENSP00000341619:p.Ser118Phe					GATA3_uc001ijz.2_Missense_Mutation_p.S118F	p.S118F	NM_002051	NP_002042	P23771	GATA3_HUMAN			3	910	+			118					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.353C>T	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085584	0.76642	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96885	-4.16;-4.12	5.4	5.4	0.78164	.	0.162934	0.56097	D	0.000027	D	0.95421	0.8513	M	0.64404	1.975	0.58432	D	0.99999	B;B	0.14805	0.007;0.011	B;B	0.16289	0.005;0.015	D	0.92625	0.6111	10	0.72032	D	0.01	-12.9945	19.1817	0.93627	0.0:1.0:0.0:0.0	.	118;118	P23771;P23771-2	GATA3_HUMAN;.	F	118	ENSP00000368632:S118F;ENSP00000341619:S118F	ENSP00000341619:S118F	S	+	2	0	GATA3	8140385	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.804000	0.55568	2.526000	0.85167	0.561000	0.74099	TCC		PASS	0.706	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		34	152	34	152	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15688891	15688891	+	Silent	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:15688891A>G	ENST00000378076.3	-	12	1514	c.1161T>C	c.(1159-1161)ggT>ggC	p.G387G		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	387					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.G387G(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCATAGCACTACCGAATCTCC	0.473																																						uc001ioc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)	6						c.(1159-1161)GGT>GGC		integrin, alpha 8 precursor							118.0	106.0	110.0					10																	15688891		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15688891A>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1161T>C	10.37:g.15688891A>G						ITGA8_uc010qcb.1_Silent_p.G372G	p.G387G	NM_003638	NP_003629	P53708	ITA8_HUMAN			12	1161	-			387			Extracellular (Potential).|FG-GAP 6.		B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1161T>C	CCDS31155.1																																																																																				PASS	0.473	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		28	71	28	71	---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28274056	28274056	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:28274056T>A	ENST00000305242.5	-	4	559	c.467A>T	c.(466-468)aAa>aTa	p.K156I	ARMC4_ENST00000537576.1_5'Flank|ARMC4_ENST00000239715.3_Missense_Mutation_p.K13I	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	156					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.K156I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTGGTAATTTTGCCAAGAAT	0.338																																						uc009xky.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(466-468)AAA>ATA		armadillo repeat containing 4							63.0	57.0	59.0					10																	28274056		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28274056T>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.467A>T	10.37:g.28274056T>A	ENSP00000306410:p.Lys156Ile					ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Missense_Mutation_p.K156I	p.K156I	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			4	565	-			156					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.467A>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480077	0.26598	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.55588	1.23;0.64;0.51	5.55	4.38	0.52667	.	0.179269	0.49305	D	0.000157	T	0.51398	0.1672	M	0.72118	2.19	0.31602	N	0.652564	B	0.25351	0.124	B	0.20767	0.031	T	0.59337	-0.7473	10	0.72032	D	0.01	-14.7201	11.5872	0.50925	0.0:0.0:0.1994:0.8006	.	156	Q5T2S8	ARMC4_HUMAN	I	156;50;13	ENSP00000306410:K156I;ENSP00000398155:K50I;ENSP00000239715:K13I	ENSP00000239715:K13I	K	-	2	0	ARMC4	28314062	1.000000	0.71417	0.023000	0.16930	0.219000	0.24729	1.540000	0.36115	0.844000	0.35094	0.477000	0.44152	AAA		PASS	0.338	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		10	25	10	25	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43316087	43316087	+	Silent	SNP	G	G	A	rs186096151		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:43316087G>A	ENST00000374518.5	+	17	2964	c.2901G>A	c.(2899-2901)agG>agA	p.R967R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	967					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R967R(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGACAAAGGCTTCTAAAGT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18667	0.001		0.0	False		,,,				2504	0.0					uc001jaj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2899-2901)AGG>AGA		BMS1-like, ribosome assembly protein							50.0	53.0	52.0					10																	43316087		2201	4300	6501	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43316087G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2901G>A	10.37:g.43316087G>A							p.R967R	NM_014753	NP_055568	Q14692	BMS1_HUMAN			17	3259	+			967					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.2901G>A	CCDS7199.1																																																																																				PASS	0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		47	154	47	154	---	---	---	---
GPRIN2	9721	broad.mit.edu	37	10	46999128	46999128	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:46999128G>C	ENST00000374317.1	+	3	521	c.248G>C	c.(247-249)cGa>cCa	p.R83P	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R83P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	83								p.R83P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCAAGGCGCGACCCAGTGCT	0.697																																						uc001jec.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)CGA>CCA		G protein-regulated inducer of neurite outgrowth							29.0	36.0	34.0					10																	46999128		2190	4280	6470	SO:0001583	missense	9721							g.chr10:46999128G>C	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.248G>C	10.37:g.46999128G>C	ENSP00000363436:p.Arg83Pro					GPRIN2_uc010qfq.1_5'Flank	p.R83P	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	383	+			83					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.248G>C	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	8.483	0.860226	0.17178	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03496	3.91;3.91	5.64	-11.3	0.00108	.	2.287530	0.01863	N	0.036746	T	0.02888	0.0086	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24083	-1.0170	10	0.37606	T	0.19	0.5931	5.6627	0.17678	0.1043:0.3368:0.4016:0.1573	.	83	O60269	GRIN2_HUMAN	P	83	ENSP00000363436:R83P;ENSP00000363433:R83P	ENSP00000363433:R83P	R	+	2	0	GPRIN2	46419134	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.343000	0.02642	-2.959000	0.00290	-0.312000	0.09012	CGA		PASS	0.697	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		8	74	8	74	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50946033	50946033	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:50946033T>A	ENST00000374103.4	-	19	2562	c.2477A>T	c.(2476-2478)cAc>cTc	p.H826L	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.H617L|OGDHL_ENST00000419399.1_Missense_Mutation_p.H769L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	826					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.H826L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCGCAGCACGTGGAAGTAGTT	0.642																																						uc001jie.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2476-2478)CAC>CTC		oxoglutarate dehydrogenase-like isoform a							205.0	192.0	197.0					10																	50946033		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50946033T>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2477A>T	10.37:g.50946033T>A	ENSP00000363216:p.His826Leu					OGDHL_uc009xog.2_Missense_Mutation_p.H853L|OGDHL_uc010qgt.1_Missense_Mutation_p.H769L|OGDHL_uc010qgu.1_Missense_Mutation_p.H617L	p.H826L	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			19	2619	-			826					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2477A>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.967359	0.92855	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.92299	-3.01;-3.01;-3.01	4.84	4.84	0.62591	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	H	0.98951	4.38	0.80722	D	1	P;P;P	0.51449	0.932;0.932;0.945	P;P;D	0.64687	0.881;0.899;0.928	D	0.98977	1.0803	10	0.87932	D	0	.	14.424	0.67202	0.0:0.0:0.0:1.0	.	769;617;826	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	L	826;769;617	ENSP00000363216:H826L;ENSP00000401356:H769L;ENSP00000390240:H617L	ENSP00000363216:H826L	H	-	2	0	OGDHL	50616039	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.020000	0.88740	1.804000	0.52760	0.528000	0.53228	CAC		PASS	0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		119	308	119	308	---	---	---	---
CFAP70	118491	broad.mit.edu	37	10	75113480	75113480	+	Silent	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:75113480A>G	ENST00000310715.3	-	3	204	c.84T>C	c.(82-84)acT>acC	p.T28T	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.T28T|TTC18_ENST00000340329.3_Silent_p.T28T|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Silent_p.T28T	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		28						extracellular vesicular exosome (GO:0070062)		p.T28T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGGTAACTGGAGTATCTCCTT	0.363																																						uc009xrc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(82-84)ACT>ACC		tetratricopeptide repeat domain 18							91.0	83.0	86.0					10																	75113480		2203	4300	6503	SO:0001819	synonymous_variant	118491						binding	g.chr10:75113480A>G																												ENST00000310715.3:c.84T>C	10.37:g.75113480A>G						TTC18_uc001jty.2_Silent_p.T28T|TTC18_uc009xrd.1_5'UTR	p.T28T	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			3	205	-	Prostate(51;0.0119)		28					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	c.84T>C	CCDS7324.3																																																																																				PASS	0.363	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				26	105	26	105	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89717708	89717708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:89717708C>T	ENST00000371953.3	+	7	2090	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	245	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.Q245*(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(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)		TGAGTTCCCTCAGCCGTTACC	0.418		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		57	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Nonsense(8)|Deletion - In frame(1)|Unknown(1)	p.Q245*(6)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1)	prostate(16)|central_nervous_system(11)|lung(7)|skin(6)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(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	CM981673	PTEN	M		c.(733-735)CAG>TAG		phosphatase and tensin homolog							139.0	120.0	126.0					10																	89717708		2203	4300	6503	SO:0001587	stop_gained	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.chr10:89717708C>T	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.733C>T	10.37:g.89717708C>T	ENSP00000361021:p.Gln245*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Q245*	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)	8	1764	+		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)	245			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.733C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	49	15.306251	0.99829	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	5.15	0.70609	.	0.054326	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.3071	18.6161	0.91303	0.0:1.0:0.0:0.0	.	.	.	.	X	245	.	.	Q	+	1	0	PTEN	89707688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.452000	0.80683	2.380000	0.81148	0.585000	0.79938	CAG		PASS	0.418	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		63	103	63	103	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106907400	106907400	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:106907400A>G	ENST00000369701.3	+	9	1555	c.1328A>G	c.(1327-1329)gAg>gGg	p.E443G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	443					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.E443G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGTACAGACGAGAACCAAGTA	0.478																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1327-1329)GAG>GGG		VPS10 domain receptor protein SORCS 3 precursor							195.0	158.0	170.0					10																	106907400		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106907400A>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1328A>G	10.37:g.106907400A>G	ENSP00000358715:p.Glu443Gly						p.E443G	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	9	1555	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	443			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1328A>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955493	0.73902	.	.	ENSG00000156395	ENST00000369701	T	0.18502	2.21	5.27	4.13	0.48395	VPS10 (1);	0.052922	0.85682	N	0.000000	T	0.39332	0.1074	M	0.80982	2.52	0.49915	D	0.99983	D	0.67145	0.996	D	0.62955	0.909	T	0.31503	-0.9941	10	0.87932	D	0	.	11.0776	0.48040	0.9269:0.0:0.0731:0.0	.	443	Q9UPU3	SORC3_HUMAN	G	443	ENSP00000358715:E443G	ENSP00000358715:E443G	E	+	2	0	SORCS3	106897390	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.320000	0.72876	0.953000	0.37825	0.528000	0.53228	GAG		PASS	0.478	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		38	94	38	94	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106976840	106976840	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr10:106976840C>A	ENST00000369701.3	+	19	2921	c.2694C>A	c.(2692-2694)aaC>aaA	p.N898K	SORCS3_ENST00000369699.4_Missense_Mutation_p.N184K	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	898	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.N898K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGAGAACAACCTTGGCTCAG	0.527																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2692-2694)AAC>AAA		VPS10 domain receptor protein SORCS 3 precursor							181.0	143.0	156.0					10																	106976840		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976840C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2694C>A	10.37:g.106976840C>A	ENSP00000358715:p.Asn898Lys					SORCS3_uc010qqz.1_RNA	p.N898K	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2921	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	898			PKD.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2694C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580973	0.28180	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.60920	0.15;0.15	5.76	3.91	0.45181	PKD domain (4);	0.564577	0.19721	N	0.107590	T	0.41003	0.1140	N	0.14661	0.345	0.31428	N	0.673528	B	0.19935	0.04	B	0.29440	0.102	T	0.41233	-0.9520	9	.	.	.	.	12.5334	0.56128	0.0:0.865:0.0:0.135	.	898	Q9UPU3	SORC3_HUMAN	K	898;184	ENSP00000358715:N898K;ENSP00000358713:N184K	.	N	+	3	2	SORCS3	106966830	0.998000	0.40836	0.997000	0.53966	0.997000	0.91878	2.591000	0.46163	0.898000	0.36418	0.655000	0.94253	AAC		PASS	0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		49	117	49	117	---	---	---	---
IGF2	3481	broad.mit.edu	37	11	2167571	2167571	+	Intron	SNP	C	C	T	rs369288906		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:2167571C>T	ENST00000300632.5	-	2	720				IGF2-AS_ENST00000381361.3_RNA|IGF2-AS_ENST00000445504.2_RNA|IGF2-AS_ENST00000381363.4_RNA|INS-IGF2_ENST00000481781.1_5'Flank	NM_001007139.4	NP_001007140.2	P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)	p.P134L(1)		central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGCGCCCCTCCGTCACCCCCT	0.687																																						uc010qxi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)CCG>CTG		RecName: Full=Putative insulin-like growth factor 2 antisense gene protein;          Short=IGF2-AS; AltName: Full=PEG8/IGF2AS protein;		C		2,3816		0,2,1907	65.0	71.0	69.0			2.0	0.0	11		69	0,8232		0,0,4116	no	intron	IGF2	NM_001007139.4		0,2,6023	TT,TC,CC		0.0,0.0524,0.0166			2167571	2,12048	1909	4116	6025	SO:0001627	intron_variant	51214							g.chr11:2167571C>T	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000300632.5:c.5+1224G>A	11.37:g.2167571C>T						IGF2_uc001lvh.2_Intron|INS-IGF2_uc001lvi.2_Intron|IGF2AS_uc001lvk.1_RNA|IGF2AS_uc001lvl.1_Intron	p.P134L	NM_016412	NP_057496			Colorectal(5;0.00388)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	2	538	+		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)						B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000300632.5	37	c.401C>T	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395731	0.25205	5.24E-4	0.0	ENSG00000099869	ENST00000381363	.	.	.	2.01	2.01	0.26516	.	.	.	.	.	T	0.57036	0.2026	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.69824	0.966	T	0.37619	-0.9698	7	0.87932	D	0	.	7.551	0.27798	0.0:1.0:0.0:0.0	.	134	Q6U949	IG2AS_HUMAN	L	134	.	ENSP00000370766:P134L	P	+	2	0	IGF2AS	2124147	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.308000	0.19314	1.440000	0.47531	0.462000	0.41574	CCG		PASS	0.687	IGF2-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000612		73	151	73	151	---	---	---	---
OR52N2	390077	broad.mit.edu	37	11	5841948	5841948	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:5841948T>C	ENST00000317037.2	+	1	405	c.383T>C	c.(382-384)aTc>aCc	p.I128T	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I128T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGTGGCCATCTGCTACCCC	0.542																																						uc010qzp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(382-384)ATC>ACC		olfactory receptor, family 52, subfamily N,							168.0	133.0	145.0					11																	5841948		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841948T>C	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.383T>C	11.37:g.5841948T>C	ENSP00000322801:p.Ile128Thr					TRIM5_uc001mbq.1_Intron	p.I128T	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	383	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	128			Cytoplasmic (Potential).		Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.383T>C	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.401035	0.62288	.	.	ENSG00000180988	ENST00000317037	T	0.59224	0.28	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.77485	0.4137	H	0.99211	4.47	0.38782	D	0.954791	P	0.35714	0.517	B	0.37833	0.259	D	0.85526	0.1206	10	0.87932	D	0	.	15.1647	0.72814	0.0:0.0:0.0:1.0	.	128	Q8NGI0	O52N2_HUMAN	T	128	ENSP00000322801:I128T	ENSP00000322801:I128T	I	+	2	0	OR52N2	5798524	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.197000	0.72100	2.260000	0.74910	0.533000	0.62120	ATC		PASS	0.542	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		65	150	65	150	---	---	---	---
ZNF215	7762	broad.mit.edu	37	11	6964374	6964374	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:6964374G>T	ENST00000278319.5	+	5	1132	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	ZNF215_ENST00000527171.1_Intron|ZNF215_ENST00000529903.1_Missense_Mutation_p.D182Y|ZNF215_ENST00000414517.2_Missense_Mutation_p.D182Y	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	182	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D182Y(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GGGGCAACTGGACTCTGCTGT	0.403																																						uc001mey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)GAC>TAC		zinc finger protein 215							161.0	153.0	156.0					11																	6964374		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6964374G>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.544G>T	11.37:g.6964374G>T	ENSP00000278319:p.Asp182Tyr					ZNF215_uc010raw.1_Intron|ZNF215_uc010rax.1_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.D182Y	p.D182Y	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	5	1132	+			182			KRAB.		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.544G>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126009	0.37533	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.02863	4.13;4.13;4.13	4.38	4.38	0.52667	Krueppel-associated box (4);	0.171464	0.28021	N	0.016914	T	0.15825	0.0381	M	0.84948	2.725	0.30778	N	0.742276	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.01124	-1.1444	10	0.66056	D	0.02	0.4231	12.6584	0.56799	0.0:0.0:1.0:0.0	.	182;182	Q96C84;Q9UL58	.;ZN215_HUMAN	Y	182	ENSP00000278319:D182Y;ENSP00000393202:D182Y;ENSP00000432306:D182Y	ENSP00000278319:D182Y	D	+	1	0	ZNF215	6920950	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	2.826000	0.48104	2.438000	0.82558	0.655000	0.94253	GAC		PASS	0.403	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			97	298	97	298	---	---	---	---
INSC	387755	broad.mit.edu	37	11	15260621	15260621	+	Splice_Site	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:15260621G>C	ENST00000379554.3	+	11	1580		c.e11+1		INSC_ENST00000528567.1_Splice_Site|INSC_ENST00000530161.1_Splice_Site|INSC_ENST00000447214.2_Splice_Site|INSC_ENST00000424273.1_Splice_Site|INSC_ENST00000525218.1_Splice_Site|INSC_ENST00000379556.3_Splice_Site	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)						establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CGGCTCAGCTGTGAGTGGTGC	0.617																																						uc001mly.2																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.e11+1		inscuteable isoform a							35.0	37.0	36.0					11																	15260621		2105	4219	6324	SO:0001630	splice_region_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260621G>C	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1534+1G>C	11.37:g.15260621G>C						INSC_uc001mlz.2_Splice_Site_p.C465_splice|INSC_uc001mma.2_Splice_Site_p.C465_splice|INSC_uc010rcs.1_Splice_Site_p.C500_splice|INSC_uc001mmb.2_Splice_Site_p.C465_splice|INSC_uc001mmc.2_Splice_Site_p.C423_splice	p.C512_splice	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			11	1580	+								A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Splice_Site	SNP	ENST00000379554.3	37	c.1534_splice	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985799	0.74589	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7365	0.96208	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INSC	15217197	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.356000	0.73046	2.672000	0.90937	0.655000	0.94253	.		PASS	0.617	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	Intron	23	77	23	77	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43423094	43423094	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:43423094G>A	ENST00000039989.4	+	10	1332	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.V440M	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	440					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.V440M(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTTTGAAAATGTGGACTATGT	0.373																																						uc001mxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1318-1320)GTG>ATG		tetratricopeptide repeat domain 17							144.0	129.0	134.0					11																	43423094		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43423094G>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1318G>A	11.37:g.43423094G>A	ENSP00000039989:p.Val440Met					TTC17_uc001mxh.2_Missense_Mutation_p.V440M|TTC17_uc010rfj.1_Missense_Mutation_p.V383M|TTC17_uc001mxj.2_Missense_Mutation_p.V210M	p.V440M	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			10	1332	+			440					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.1318G>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835777	0.91117	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.42131	0.98;1.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.969;0.994;0.991	T	0.57590	-0.7785	10	0.45353	T	0.12	-16.933	20.8794	0.99867	0.0:0.0:1.0:0.0	.	440;440;440	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	M	440	ENSP00000299240:V440M;ENSP00000039989:V440M	ENSP00000039989:V440M	V	+	1	0	TTC17	43379670	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.825000	0.92029	2.941000	0.99782	0.655000	0.94253	GTG		PASS	0.373	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		13	46	13	46	---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44255735	44255735	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:44255735G>T	ENST00000343631.3	+	12	2006	c.1877G>T	c.(1876-1878)tGt>tTt	p.C626F	EXT2_ENST00000533608.1_Missense_Mutation_p.C626F|EXT2_ENST00000358681.4_Missense_Mutation_p.C636F|EXT2_ENST00000395673.3_Missense_Mutation_p.C659F			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	626	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)	p.C626F(1)|p.C636F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATATGAACTGTGAAGATATT	0.423			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													uc001mxz.2			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|skin(1)	5						c.(1876-1878)TGT>TTT		exostosin 2 isoform 2							111.0	105.0	107.0					11																	44255735		2203	4299	6502	SO:0001583	missense	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44255735G>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1877G>T	11.37:g.44255735G>T	ENSP00000342656:p.Cys626Phe					EXT2_uc010rfo.1_Missense_Mutation_p.C654F|EXT2_uc001mxy.2_Missense_Mutation_p.C639F|EXT2_uc009ykt.2_Missense_Mutation_p.C636F|EXT2_uc001mya.2_Missense_Mutation_p.C659F	p.C626F	NM_207122	NP_997005	Q93063	EXT2_HUMAN			12	2211	+			626			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1877G>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558580	0.86231	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.64	5.64	0.86602	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.98210	0.9408	H	0.94698	3.57	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	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.98951	1.0794	10	0.87932	D	0	-10.5856	19.7174	0.96129	0.0:0.0:1.0:0.0	.	626;636;636;626;639	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	F	626;636;659;626	ENSP00000431173:C626F;ENSP00000351509:C636F;ENSP00000379032:C659F;ENSP00000342656:C626F	ENSP00000342656:C626F	C	+	2	0	EXT2	44212311	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.869000	0.99810	2.653000	0.90120	0.655000	0.94253	TGT		PASS	0.423	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		26	105	26	105	---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47857309	47857309	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:47857309T>A	ENST00000378460.2	-	7	1041	c.995A>T	c.(994-996)aAa>aTa	p.K332I	NUP160_ENST00000530326.1_Missense_Mutation_p.K218I|NUP160_ENST00000528071.1_Missense_Mutation_p.K218I|NUP160_ENST00000532747.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	332					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 export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.K332I(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCGAAGGTCTTTCTTCACAGG	0.458																																						uc001ngm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(994-996)AAA>ATA		nucleoporin 160kDa							170.0	148.0	156.0					11																	47857309		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47857309T>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.995A>T	11.37:g.47857309T>A	ENSP00000367721:p.Lys332Ile					NUP160_uc009ylw.2_RNA	p.K332I	NM_015231	NP_056046	Q12769	NU160_HUMAN			7	1080	-			332					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.995A>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140740	0.77775	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.48201	0.82;0.82;0.82	5.38	5.38	0.77491	.	0.110862	0.64402	D	0.000008	T	0.56659	0.2000	L	0.46157	1.445	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	T	0.55016	-0.8206	10	0.37606	T	0.19	.	10.1579	0.42833	0.0:0.0845:0.0:0.9155	.	332	Q12769	NU160_HUMAN	I	332;82;218;218	ENSP00000367721:K332I;ENSP00000433590:K218I;ENSP00000432367:K218I	ENSP00000367721:K332I	K	-	2	0	NUP160	47813885	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	1.636000	0.37144	2.058000	0.61347	0.482000	0.46254	AAA		PASS	0.458	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		106	229	106	229	---	---	---	---
OR4A47	403253	broad.mit.edu	37	11	48511193	48511193	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:48511193A>T	ENST00000446524.1	+	1	925	c.849A>T	c.(847-849)ttA>ttT	p.L283F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L283F(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGAACCCCTTAATCTACACTC	0.408																																						uc010rhx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(847-849)TTA>TTT		olfactory receptor, family 4, subfamily A,							133.0	130.0	131.0					11																	48511193		2201	4295	6496	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511193A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.849A>T	11.37:g.48511193A>T	ENSP00000412752:p.Leu283Phe						p.L283F	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	849	+			283			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000446524.1	37	c.849A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	6.070	0.381180	0.11466	.	.	ENSG00000237388	ENST00000446524	T	0.38887	1.11	4.59	-2.57	0.06248	GPCR, rhodopsin-like superfamily (1);	0.168696	0.28382	N	0.015543	T	0.30572	0.0769	L	0.53671	1.685	0.20638	N	0.999878	P	0.34934	0.476	B	0.33890	0.172	T	0.17684	-1.0361	10	0.52906	T	0.07	.	7.0125	0.24871	0.3595:0.1487:0.4918:0.0	.	283	Q6IF82	O4A47_HUMAN	F	283	ENSP00000412752:L283F	ENSP00000412752:L283F	L	+	3	2	OR4A47	48467769	0.032000	0.19561	0.094000	0.20943	0.173000	0.22820	-0.530000	0.06179	-0.451000	0.07097	0.172000	0.16884	TTA		PASS	0.408	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		151	438	151	438	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433289	55433289	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:55433289A>T	ENST00000314259.3	+	1	676	c.647A>T	c.(646-648)tAc>tTc	p.Y216F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y216F(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATTGCGTCCTACACGGTCATC	0.512																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(646-648)TAC>TTC		olfactory receptor, family 4, subfamily C,							138.0	123.0	128.0					11																	55433289		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433289A>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.647A>T	11.37:g.55433289A>T	ENSP00000324769:p.Tyr216Phe					OR4C6_uc010rik.1_Missense_Mutation_p.Y216F	p.Y216F	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	912	+			216			Helical; Name=5; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.647A>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239841	0.22711	.	.	ENSG00000181903	ENST00000314259	T	0.00495	6.99	4.07	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	N	0.003529	T	0.01976	0.0062	H	0.98818	4.34	0.20307	N	0.999914	B	0.32573	0.376	B	0.44163	0.443	T	0.02797	-1.1109	10	0.87932	D	0	.	8.3029	0.32025	0.823:0.0:0.0:0.177	.	216	Q8NH72	OR4C6_HUMAN	F	216	ENSP00000324769:Y216F	ENSP00000324769:Y216F	Y	+	2	0	OR4C6	55189865	1.000000	0.71417	0.052000	0.19188	0.027000	0.11550	5.548000	0.67255	1.484000	0.48361	0.444000	0.29173	TAC		PASS	0.512	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		91	232	91	232	---	---	---	---
OR8K5	219453	broad.mit.edu	37	11	55927467	55927467	+	Silent	SNP	G	G	T	rs199846920		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:55927467G>T	ENST00000313447.1	-	1	326	c.327C>A	c.(325-327)atC>atA	p.I109I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I109I(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AAAATTCACTGATAATGAACA	0.418																																						uc010rja.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(325-327)ATC>ATA		olfactory receptor, family 8, subfamily K,							88.0	87.0	87.0					11																	55927467		2201	4295	6496	SO:0001819	synonymous_variant	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927467G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.327C>A	11.37:g.55927467G>T							p.I109I	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	327	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	109			Helical; Name=3; (Potential).		Q6IFB5	Silent	SNP	ENST00000313447.1	37	c.327C>A	CCDS31521.1																																																																																				PASS	0.418	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		80	228	80	228	---	---	---	---
MS4A2	2206	broad.mit.edu	37	11	59860957	59860957	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:59860957A>T	ENST00000278888.3	+	5	565	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	155					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.S155C(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CCTGAAGAAGAGCTTGGCCTA	0.443																																						uc001nop.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(463-465)AGC>TGC		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						163.0	152.0	156.0					11																	59860957		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59860957A>T	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.463A>T	11.37:g.59860957A>T	ENSP00000278888:p.Ser155Cys					MS4A2_uc009ymu.2_Missense_Mutation_p.S155C	p.S155C	NM_000139	NP_000130	Q01362	FCERB_HUMAN			5	565	+		all_epithelial(135;0.245)	155			Extracellular (Potential).		Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.463A>T	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955128	0.53293	.	.	ENSG00000149534	ENST00000278888	T	0.02369	4.32	4.33	4.33	0.51752	.	1.349520	0.04252	N	0.338814	T	0.15869	0.0382	M	0.76328	2.33	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.969	T	0.13361	-1.0512	10	0.56958	D	0.05	-6.0448	10.1812	0.42968	1.0:0.0:0.0:0.0	.	85;155	Q14298;Q01362	.;FCERB_HUMAN	C	155	ENSP00000278888:S155C	ENSP00000278888:S155C	S	+	1	0	MS4A2	59617533	0.001000	0.12720	0.003000	0.11579	0.033000	0.12548	1.400000	0.34577	2.179000	0.69175	0.528000	0.53228	AGC		PASS	0.443	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			85	226	85	226	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62290332	62290332	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:62290332C>T	ENST00000378024.4	-	5	11831	c.11557G>A	c.(11557-11559)Gag>Aag	p.E3853K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3853					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.E3853K(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)				AACTTTCCCTCTGGGCCTTCG	0.493																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(11557-11559)GAG>AAG		AHNAK nucleoprotein isoform 1							171.0	179.0	176.0					11																	62290332		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290332C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11557G>A	11.37:g.62290332C>T	ENSP00000367263:p.Glu3853Lys					AHNAK_uc001ntk.1_Intron	p.E3853K	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	11857	-		Melanoma(852;0.155)	3853					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11557G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	13.95	2.390687	0.42410	.	.	ENSG00000124942	ENST00000378024	T	0.03004	4.08	4.92	4.0	0.46444	.	0.805371	0.10358	N	0.684289	T	0.09291	0.0229	M	0.71920	2.185	0.34845	D	0.741051	P	0.35033	0.481	B	0.43783	0.431	T	0.15665	-1.0429	10	0.15952	T	0.53	.	12.3111	0.54929	0.0:0.9163:0.0:0.0837	.	3853	Q09666	AHNK_HUMAN	K	3853	ENSP00000367263:E3853K	ENSP00000367263:E3853K	E	-	1	0	AHNAK	62046908	0.988000	0.35896	0.304000	0.25085	0.035000	0.12851	3.764000	0.55264	2.284000	0.76573	0.543000	0.68304	GAG		PASS	0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		237	524	237	524	---	---	---	---
PPP6R3	55291	broad.mit.edu	37	11	68337285	68337285	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:68337285C>T	ENST00000393800.2	+	11	1452	c.1198C>T	c.(1198-1200)Ctt>Ttt	p.L400F	PPP6R3_ENST00000265636.5_Missense_Mutation_p.L349F|PPP6R3_ENST00000534534.1_Missense_Mutation_p.L168F|PPP6R3_ENST00000529710.1_Missense_Mutation_p.L349F|PPP6R3_ENST00000524845.1_Missense_Mutation_p.L400F|PPP6R3_ENST00000393799.2_Missense_Mutation_p.L400F|PPP6R3_ENST00000527403.2_Missense_Mutation_p.L400F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.L400F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.L400F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L400F	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	400					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.L400F(1)|p.L349F(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGCACTGATTCTTGCAAGTCC	0.328																																						uc001onw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1198-1200)CTT>TTT		SAPS domain family, member 3 isoform 6							164.0	158.0	160.0					11																	68337285		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68337285C>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1198C>T	11.37:g.68337285C>T	ENSP00000377389:p.Leu400Phe					SAPS3_uc001onv.2_Missense_Mutation_p.L400F|SAPS3_uc001ony.3_Missense_Mutation_p.L400F|SAPS3_uc001onx.2_Missense_Mutation_p.L400F|SAPS3_uc009ysh.2_Missense_Mutation_p.L349F|SAPS3_uc001onu.2_Missense_Mutation_p.L349F|SAPS3_uc010rqc.1_Missense_Mutation_p.L168F|SAPS3_uc010rqd.1_Missense_Mutation_p.L112F	p.L400F	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		11	1465	+			400					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.1198C>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541849	0.85917	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;1.09;1.12;-0.28;1.42	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.79393	0.4438	L	0.54908	1.71	0.58432	D	0.999999	D;D;P;P;D;D;D;D	0.89917	1.0;0.999;0.914;0.914;0.992;0.97;1.0;0.996	D;D;P;P;P;P;D;P	0.97110	1.0;0.998;0.615;0.781;0.903;0.861;0.999;0.86	T	0.76661	-0.2877	10	0.40728	T	0.16	.	19.3993	0.94621	0.0:1.0:0.0:0.0	.	112;168;349;400;400;400;400;349	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	F	400;400;168;400;400;400;400;349;349;400;136	ENSP00000377388:L400F;ENSP00000377389:L400F;ENSP00000434429:L168F;ENSP00000431415:L400F;ENSP00000265637:L400F;ENSP00000433058:L400F;ENSP00000377390:L400F;ENSP00000265636:L349F;ENSP00000437329:L349F;ENSP00000433565:L400F;ENSP00000436209:L136F	ENSP00000265636:L349F	L	+	1	0	PPP6R3	68093861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.814000	0.62627	2.821000	0.97095	0.561000	0.74099	CTT		PASS	0.328	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		96	258	96	258	---	---	---	---
GAB2	9846	broad.mit.edu	37	11	77936216	77936216	+	Missense_Mutation	SNP	G	G	C	rs373502813		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:77936216G>C	ENST00000361507.4	-	5	1325	c.1240C>G	c.(1240-1242)Cgt>Ggt	p.R414G	GAB2_ENST00000340149.2_Missense_Mutation_p.R376G|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	414					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R414G(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCTCCACCACGCTGTGGGTAC	0.532																																						uc001ozh.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)	6						c.(1240-1242)CGT>GGT		GRB2-associated binding protein 2 isoform a							114.0	103.0	107.0					11																	77936216		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77936216G>C	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1240C>G	11.37:g.77936216G>C	ENSP00000354952:p.Arg414Gly					GAB2_uc001ozg.2_Missense_Mutation_p.R376G	p.R414G	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		5	1240	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		414					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1240C>G	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555059	0.45487	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.21932	1.98;1.98	5.32	4.35	0.52113	.	0.571429	0.16932	U	0.193608	T	0.08714	0.0216	N	0.01352	-0.895	0.35757	D	0.819883	B	0.06786	0.001	B	0.01281	0.0	T	0.23297	-1.0192	10	0.23302	T	0.38	-11.5702	16.5885	0.84745	0.0:0.13:0.87:0.0	.	414	Q9UQC2	GAB2_HUMAN	G	376;414	ENSP00000343959:R376G;ENSP00000354952:R414G	ENSP00000343959:R376G	R	-	1	0	GAB2	77613864	1.000000	0.71417	0.390000	0.26220	0.962000	0.63368	4.290000	0.59019	2.650000	0.89964	0.561000	0.74099	CGT		PASS	0.532	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		21	95	21	95	---	---	---	---
C11orf54	28970	broad.mit.edu	37	11	93494771	93494771	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:93494771G>A	ENST00000331239.4	+	9	1044	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	C11orf54_ENST00000528099.1_Missense_Mutation_p.E289K|C11orf54_ENST00000540113.1_Missense_Mutation_p.E270K|C11orf54_ENST00000354421.3_Missense_Mutation_p.E289K|C11orf54_ENST00000528288.1_Missense_Mutation_p.E239K			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	289					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.E239K(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGATATAGTGGAATATCTTGG	0.398																																						uc009ywi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)GAA>AAA		hypothetical protein LOC28970							158.0	143.0	148.0					11																	93494771		2201	4298	6499	SO:0001583	missense	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93494771G>A	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.865G>A	11.37:g.93494771G>A	ENSP00000331209:p.Glu289Lys					C11orf54_uc001pef.2_Missense_Mutation_p.E239K|C11orf54_uc001peg.2_Missense_Mutation_p.E289K|C11orf54_uc001peh.2_Missense_Mutation_p.E289K|C11orf54_uc001pei.2_Missense_Mutation_p.E270K|C11orf54_uc001pej.2_Missense_Mutation_p.E270K|C11orf54_uc001pek.2_Missense_Mutation_p.E178K	p.E289K	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN			10	1196	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	289					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37	c.865G>A		.	.	.	.	.	.	.	.	.	.	G	18.91	3.723745	0.68959	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000524485;ENST00000533154	.	.	.	5.36	4.38	0.52667	Domain of unknown function DUF1907 (1);	0.098992	0.64402	D	0.000002	T	0.56804	0.2010	.	.	.	0.80722	D	1	B;B	0.29627	0.252;0.126	B;B	0.31812	0.136;0.093	T	0.60342	-0.7282	8	0.52906	T	0.07	-22.4317	15.646	0.77049	0.0:0.2225:0.7775:0.0	.	289;239	Q9H0W9;Q9H0W9-3	CK054_HUMAN;.	K	239;289;289;289;270;270;178	.	ENSP00000331209:E289K	E	+	1	0	C11orf54	93134419	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.154000	0.58125	2.510000	0.84645	0.561000	0.74099	GAA		PASS	0.398	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		15	268	15	268	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93822054	93822054	+	Silent	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:93822054C>A	ENST00000315765.9	+	12	2222	c.2214C>A	c.(2212-2214)gcC>gcA	p.A738A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	738	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.A742A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTTACATCGCCGCTGAAGAAG	0.532																																						uc001pep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2212-2214)GCC>GCA		hephaestin-like 1 precursor							96.0	97.0	97.0					11																	93822054		1944	4152	6096	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93822054C>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2214C>A	11.37:g.93822054C>A						uc001pen.1_Intron	p.A738A	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			12	2371	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	738			Plastocyanin-like 5.|Extracellular (Potential).		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.2214C>A	CCDS44710.1																																																																																				PASS	0.532	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		51	152	51	152	---	---	---	---
AASDHPPT	60496	broad.mit.edu	37	11	105962125	105962125	+	Nonsense_Mutation	SNP	T	T	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:105962125T>G	ENST00000278618.4	+	4	836	c.614T>G	c.(613-615)tTa>tGa	p.L205*	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	205					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.L205*(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		CTATCTCCATTAAACTTGGAT	0.363																																						uc001pjc.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(613-615)TTA>TGA		aminoadipate-semialdehyde							104.0	112.0	109.0					11																	105962125		2201	4299	6500	SO:0001587	stop_gained	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105962125T>G	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.614T>G	11.37:g.105962125T>G	ENSP00000278618:p.Leu205*					AASDHPPT_uc010rvn.1_RNA|AASDHPPT_uc001pjd.1_Nonsense_Mutation_p.L58*	p.L205*	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	4	760	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	205					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Nonsense_Mutation	SNP	ENST00000278618.4	37	c.614T>G	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	T	37	6.192390	0.97362	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.77	5.77	0.91146	.	0.293944	0.32258	N	0.006342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	16.0816	0.81007	0.0:0.0:0.0:1.0	.	.	.	.	X	140;140;205	.	ENSP00000278618:L205X	L	+	2	0	AASDHPPT	105467335	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.903000	0.63272	2.202000	0.70862	0.477000	0.44152	TTA		PASS	0.363	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		64	229	64	229	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124253009	124253009	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:124253009G>T	ENST00000375013.2	-	1	249	c.231C>A	c.(229-231)ttC>ttA	p.F77L		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F77L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTTTGGGAGTGAAAACAGAGG	0.388																																						uc010sai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)TTC>TTA		olfactory receptor, family 8, subfamily B,							132.0	125.0	128.0					11																	124253009		2201	4299	6500	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253009G>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.231C>A	11.37:g.124253009G>T	ENSP00000364152:p.Phe77Leu					OR8B2_uc001qab.3_RNA	p.F77L	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	231	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	77			Extracellular (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.231C>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	g	11.49	1.655331	0.29425	.	.	ENSG00000204293	ENST00000375013	T	0.00832	5.64	4.2	-4.75	0.03239	GPCR, rhodopsin-like superfamily (1);	0.316601	0.27759	N	0.017965	T	0.00724	0.0024	L	0.39245	1.2	0.09310	N	1	P	0.38195	0.622	B	0.29862	0.108	T	0.46162	-0.9211	10	0.62326	D	0.03	.	7.9788	0.30170	0.6917:0.0:0.1783:0.13	.	77	Q96RD0	OR8B2_HUMAN	L	77	ENSP00000364152:F77L	ENSP00000364152:F77L	F	-	3	2	OR8B2	123758219	0.000000	0.05858	0.007000	0.13788	0.706000	0.40770	-2.601000	0.00892	-0.856000	0.04120	0.400000	0.26472	TTC		PASS	0.388	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		82	289	82	289	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134038017	134038017	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr11:134038017G>A	ENST00000534548.2	-	27	3511	c.3447C>T	c.(3445-3447)ctC>ctT	p.L1149L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1149					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.L1149L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTTTGAGCTGAGGACCTCAA	0.488																																						uc001qhd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(3445-3447)CTC>CTT		non-SMC condensin II complex, subunit D3							156.0	135.0	142.0					11																	134038017		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134038017G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3447C>T	11.37:g.134038017G>A						NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Silent_p.L99L	p.L1149L	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	27	4053	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1149					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.3447C>T	CCDS31723.1																																																																																				PASS	0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		71	188	71	188	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2774864	2774864	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:2774864C>T	ENST00000347598.4	+	38	4660	c.4660C>T	c.(4660-4662)Cct>Tct	p.P1554S	CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P1506S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P1528S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P1506S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P1506S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P1506S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P1493S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P1506S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P1506S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P1506S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P1534S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P1531S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P1495S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.P1506S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P1506S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P1526S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P1506S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P1523S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P1495S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P1506S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P1506S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P1506S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1554					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.P1528S(1)|p.P1554S(1)|p.P1041S(1)|p.P1506S(1)|p.P1584S(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)	AGAGTATGACCCTGAAGCCAA	0.517																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(4660-4662)CCT>TCT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						65.0	65.0	65.0					12																	2774864		2091	4258	6349	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2774864C>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.4660C>T	12.37:g.2774864C>T	ENSP00000266376:p.Pro1554Ser					CACNA1C_uc009zdv.1_Missense_Mutation_p.P1503S|CACNA1C_uc001qkb.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkc.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qke.2_Missense_Mutation_p.P1495S|CACNA1C_uc001qkf.2_Missense_Mutation_p.P1495S|CACNA1C_uc001qjz.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkd.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkg.2_Missense_Mutation_p.P1493S|CACNA1C_uc009zdw.1_Missense_Mutation_p.P1528S|CACNA1C_uc001qkh.2_Missense_Mutation_p.P1495S|CACNA1C_uc001qkl.2_Missense_Mutation_p.P1554S|CACNA1C_uc001qkn.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qko.2_Missense_Mutation_p.P1526S|CACNA1C_uc001qkp.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkr.2_Missense_Mutation_p.P1523S|CACNA1C_uc001qku.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkq.2_Missense_Mutation_p.P1534S|CACNA1C_uc001qks.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qkt.2_Missense_Mutation_p.P1506S|CACNA1C_uc001qki.1_Missense_Mutation_p.P1242S|CACNA1C_uc001qkj.1_Missense_Mutation_p.P1242S|CACNA1C_uc001qkk.1_Missense_Mutation_p.P1242S|CACNA1C_uc001qkm.1_Missense_Mutation_p.P1231S|CACNA1C_uc010sea.1_Missense_Mutation_p.P197S	p.P1554S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	38	4973	+			1554			Cytoplasmic (Potential).|By similarity.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4660C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959480	0.74016	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97303	-4.25;-4.24;-4.24;-4.26;-4.24;-4.27;-4.17;-4.2;-4.24;-4.19;-4.17;-4.24;-4.33;-4.17;-4.08;-4.32;-4.26;-4.24;-4.25;-4.18;-4.25;-4.3	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	M	0.93283	3.4	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.994;0.997;0.999;1.0;0.997;0.999;0.999;0.999;1.0;0.997;0.999;0.999;0.997;0.999;0.996;0.999;0.994;0.997;0.999;0.997;0.999;0.999;0.999;0.999;0.999	D	0.99437	1.0937	10	0.87932	D	0	.	18.9213	0.92526	0.0:1.0:0.0:0.0	.	197;1528;1503;1554;1506;1506;1506;1523;1534;1506;1526;1506;1466;1554;1506;1506;1506;1495;1493;1495;1495;1506;1506;1506;1506	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	1531;1506;1506;1534;1506;1506;1506;1495;1506;1554;1526;1506;1528;1523;1506;1493;1506;1506;1506;1506;1506;1495;1336	ENSP00000336982:P1531S;ENSP00000382563:P1506S;ENSP00000382552:P1506S;ENSP00000382547:P1534S;ENSP00000382506:P1506S;ENSP00000382530:P1506S;ENSP00000382546:P1506S;ENSP00000382500:P1495S;ENSP00000382549:P1506S;ENSP00000266376:P1554S;ENSP00000382515:P1526S;ENSP00000382510:P1506S;ENSP00000341092:P1528S;ENSP00000382537:P1523S;ENSP00000329877:P1506S;ENSP00000382557:P1493S;ENSP00000385724:P1506S;ENSP00000382512:P1506S;ENSP00000382542:P1506S;ENSP00000382526:P1506S;ENSP00000385896:P1506S;ENSP00000382504:P1495S	ENSP00000323129:P1336S	P	+	1	0	CACNA1C	2645125	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	7.609000	0.82925	2.775000	0.95449	0.655000	0.94253	CCT		PASS	0.517	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		17	64	17	64	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2788854	2788854	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:2788854C>A	ENST00000347598.4	+	44	5480	c.5480C>A	c.(5479-5481)cCt>cAt	p.P1827H	CACNA1C_ENST00000399621.1_Missense_Mutation_p.P1798H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P1820H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P1779H|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P1779H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P1779H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P1785H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P1779H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P1779H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P1798H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P1807H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P1804H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P1787H|CACNA1C_ENST00000399655.1_Missense_Mutation_p.P1779H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P1798H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P1799H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P1779H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P1796H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P1787H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P1779H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P1779H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P1779H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1827					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.P1827H(1)|p.P1857H(1)|p.P1820H(1)|p.P1779H(1)|p.P1314H(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)	GGTCGCCTCCCTCGCCCCGCC	0.682																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(5479-5481)CCT>CAT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						57.0	66.0	63.0					12																	2788854		2105	4223	6328	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2788854C>A	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.5480C>A	12.37:g.2788854C>A	ENSP00000266376:p.Pro1827His					CACNA1C_uc009zdv.1_Missense_Mutation_p.P1776H|CACNA1C_uc001qkb.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qkc.2_Missense_Mutation_p.P1798H|CACNA1C_uc001qke.2_Missense_Mutation_p.P1768H|CACNA1C_uc001qkf.2_Missense_Mutation_p.P1787H|CACNA1C_uc001qjz.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qkd.2_Missense_Mutation_p.P1798H|CACNA1C_uc001qkg.2_Missense_Mutation_p.P1785H|CACNA1C_uc009zdw.1_Missense_Mutation_p.P1820H|CACNA1C_uc001qkh.2_Missense_Mutation_p.P1787H|CACNA1C_uc001qkl.2_Missense_Mutation_p.P1827H|CACNA1C_uc001qkn.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qko.2_Missense_Mutation_p.P1799H|CACNA1C_uc001qkp.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qkr.2_Missense_Mutation_p.P1796H|CACNA1C_uc001qku.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qkq.2_Missense_Mutation_p.P1807H|CACNA1C_uc001qks.2_Missense_Mutation_p.P1779H|CACNA1C_uc001qkt.2_Missense_Mutation_p.P1798H|CACNA1C_uc001qki.1_Missense_Mutation_p.P1515H|CACNA1C_uc001qkj.1_Missense_Mutation_p.P1515H|CACNA1C_uc001qkk.1_Missense_Mutation_p.P1515H|CACNA1C_uc001qkm.1_Missense_Mutation_p.P1504H|CACNA1C_uc010sea.1_Missense_Mutation_p.P470H|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.P97H	p.P1827H	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	44	5793	+			1827			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5480C>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589691	0.46214	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96104	-3.83;-3.83;-3.83;-3.83;-3.83;-3.85;-3.74;-3.78;-3.83;-3.76;-3.75;-3.83;-3.88;-3.75;-3.74;-3.89;-3.84;-3.83;-3.91;-3.83;-3.91;-3.89	5.06	5.06	0.68205	.	1.606760	0.03094	N	0.160211	D	0.97420	0.9156	L	0.52364	1.645	0.48236	D	0.999614	P;D;D;D;D;D;D;D;B;B;D;D;P;D;D;D;D;P;D;P;D;D;D;D;P	0.89917	0.713;1.0;0.982;0.966;0.998;0.994;0.963;0.994;0.026;0.058;0.994;0.963;0.729;0.988;0.97;0.998;0.998;0.606;0.996;0.831;0.982;0.994;0.994;0.99;0.874	P;D;P;P;D;D;P;P;B;B;D;P;P;D;P;D;D;P;D;P;P;D;P;P;P	0.91635	0.541;0.999;0.74;0.76;0.937;0.938;0.621;0.902;0.041;0.02;0.938;0.621;0.646;0.938;0.671;0.95;0.911;0.504;0.938;0.482;0.74;0.938;0.902;0.81;0.518	D	0.90023	0.4129	10	0.33940	T	0.23	.	16.6137	0.84901	0.0:1.0:0.0:0.0	.	470;1820;1776;1827;1779;1798;1779;1796;1807;1779;1799;1779;1739;1827;1779;1779;1779;1787;1785;1787;1768;1798;1798;1779;1779	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	1804;1779;1779;1807;1779;1798;1798;1787;1779;1827;1799;1779;1820;1796;1779;1785;1798;1779;1779;1779;1779;1787;1609	ENSP00000336982:P1804H;ENSP00000382563:P1779H;ENSP00000382552:P1779H;ENSP00000382547:P1807H;ENSP00000382506:P1779H;ENSP00000382530:P1798H;ENSP00000382546:P1798H;ENSP00000382500:P1787H;ENSP00000382549:P1779H;ENSP00000266376:P1827H;ENSP00000382515:P1799H;ENSP00000382510:P1779H;ENSP00000341092:P1820H;ENSP00000382537:P1796H;ENSP00000329877:P1779H;ENSP00000382557:P1785H;ENSP00000385724:P1798H;ENSP00000382512:P1779H;ENSP00000382542:P1779H;ENSP00000382526:P1779H;ENSP00000385896:P1779H;ENSP00000382504:P1787H	ENSP00000323129:P1609H	P	+	2	0	CACNA1C	2659115	1.000000	0.71417	0.924000	0.36721	0.062000	0.15995	4.102000	0.57776	2.358000	0.79984	0.305000	0.20034	CCT		PASS	0.682	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		13	10	13	10	---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4920492	4920492	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:4920492T>A	ENST00000280684.3	+	1	2151	c.1285T>A	c.(1285-1287)Tac>Aac	p.Y429N	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.Y429N			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	429					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.Y429N(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)	CGGGGACATGTACCCCATGAC	0.582										HNSCC(72;0.22)																												uc001qng.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1285-1287)TAC>AAC		potassium voltage-gated channel, shaker-related							136.0	116.0	123.0					12																	4920492		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920492T>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.1285T>A	12.37:g.4920492T>A	ENSP00000280684:p.Tyr429Asn	HNSCC(72;0.22)					p.Y429N	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	2151	+			429						Missense_Mutation	SNP	ENST00000280684.3	37	c.1285T>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662738	0.47572	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.98633	-5.04;-5.04	5.03	5.03	0.67393	Ion transport (1);	0.166522	0.56097	D	0.000037	D	0.98842	0.9609	H	0.94423	3.535	0.46798	D	0.999205	P	0.47034	0.889	P	0.48873	0.593	D	0.99723	1.1010	10	0.32370	T	0.25	.	14.0868	0.64962	0.0:0.0:0.0:1.0	.	429	P17658	KCNA6_HUMAN	N	429	ENSP00000408321:Y429N;ENSP00000280684:Y429N	ENSP00000280684:Y429N	Y	+	1	0	KCNA6	4790753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.694000	0.25512	2.111000	0.64477	0.533000	0.62120	TAC		PASS	0.582	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		59	149	59	149	---	---	---	---
MANSC1	54682	broad.mit.edu	37	12	12483728	12483728	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:12483728C>T	ENST00000535902.1	-	4	1092	c.529G>A	c.(529-531)Gga>Aga	p.G177R	MANSC1_ENST00000396349.3_Missense_Mutation_p.G143R|MANSC1_ENST00000545735.1_Missense_Mutation_p.G96R			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	177						integral component of membrane (GO:0016021)		p.G177R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TCTGAGGATCCAAACTTCTGA	0.433																																						uc001rai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)GGA>AGA		MANSC domain containing 1 precursor							77.0	76.0	76.0					12																	12483728		2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12483728C>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.529G>A	12.37:g.12483728C>T	ENSP00000438205:p.Gly177Arg					MANSC1_uc010shm.1_Missense_Mutation_p.G111R|MANSC1_uc001raj.1_Missense_Mutation_p.G143R|MANSC1_uc009zht.1_Missense_Mutation_p.G96R	p.G177R	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	787	-		Prostate(47;0.0865)	177			Extracellular (Potential).		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.529G>A	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560240	0.65538	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.24723	2.16;2.17;1.84	4.5	2.64	0.31445	.	0.815593	0.10356	N	0.684577	T	0.27205	0.0667	L	0.27053	0.805	0.09310	N	1	B;B;D	0.58620	0.116;0.116;0.983	B;B;P	0.54100	0.033;0.033;0.742	T	0.12268	-1.0554	10	0.66056	D	0.02	-12.371	6.518	0.22258	0.0:0.7663:0.0:0.2337	.	111;143;177	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	R	177;143;96;96	ENSP00000438205:G177R;ENSP00000379638:G143R;ENSP00000445303:G96R	ENSP00000347765:G96R	G	-	1	0	MANSC1	12374995	0.001000	0.12720	0.000000	0.03702	0.594000	0.36715	0.977000	0.29475	0.444000	0.26612	0.491000	0.48974	GGA		PASS	0.433	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		54	162	54	162	---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48458880	48458880	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:48458880C>G	ENST00000004980.5	-	12	1721	c.1243G>C	c.(1243-1245)Gat>Cat	p.D415H	SENP1_ENST00000549518.1_Missense_Mutation_p.D415H|SENP1_ENST00000549595.1_Missense_Mutation_p.D415H|SENP1_ENST00000551330.1_Missense_Mutation_p.D415H|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.D415H			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	415					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.D415H(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TCTTCACTATCAGTTAATTTA	0.333																																						uc001rqx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|lung(1)	3						c.(1243-1245)GAT>CAT		sentrin/SUMO-specific protease 1							132.0	124.0	126.0					12																	48458880		1826	4081	5907	SO:0001583	missense	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48458880C>G	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1243G>C	12.37:g.48458880C>G	ENSP00000004980:p.Asp415His					SENP1_uc001rqw.2_Missense_Mutation_p.D415H|SENP1_uc001rqy.2_Missense_Mutation_p.D216H|SENP1_uc001rqz.2_Missense_Mutation_p.D216H|SENP1_uc009zkx.2_Missense_Mutation_p.D415H	p.D415H	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN			12	1689	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	415					A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	c.1243G>C	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483044	0.63962	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.45	4.56	0.56223	.	0.262593	0.36893	N	0.002347	T	0.11324	0.0276	N	0.14661	0.345	0.80722	D	1	P;D	0.54601	0.944;0.967	B;B	0.44163	0.258;0.443	T	0.07751	-1.0756	10	0.46703	T	0.11	-9.6992	9.6331	0.39791	0.0:0.7836:0.1411:0.0753	.	415;415	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	H	415	ENSP00000004980:D415H;ENSP00000394791:D415H;ENSP00000446681:D415H;ENSP00000450076:D415H;ENSP00000447328:D415H	ENSP00000004980:D415H	D	-	1	0	SENP1	46745147	0.042000	0.20092	1.000000	0.80357	0.981000	0.71138	0.870000	0.28010	1.315000	0.45114	0.462000	0.41574	GAT		PASS	0.333	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		15	53	15	53	---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49948271	49948271	+	Silent	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:49948271G>T	ENST00000257981.6	+	11	2330	c.2070G>T	c.(2068-2070)ccG>ccT	p.P690P		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	690					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.P690P(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGTTTGCCCCGCGCTTCAGTC	0.642																																						uc001ruh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2068-2070)CCG>CCT		potassium voltage-gated channel, subfamily H							58.0	56.0	57.0					12																	49948271		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49948271G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2070G>T	12.37:g.49948271G>T						KCNH3_uc010smj.1_Silent_p.P630P	p.P690P	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			11	2330	+			690			cNMP.|Cytoplasmic (Potential).		Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.2070G>T	CCDS8786.1																																																																																				PASS	0.642	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		52	164	52	164	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421134	55421134	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:55421134G>A	ENST00000242994.3	+	2	1289	c.911G>A	c.(910-912)cGt>cAt	p.R304H		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	304					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R304H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGTACCCCCCGTTATGATGTT	0.458																																						uc001sgp.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(910-912)CGT>CAT		neurogenic differentiation 4							419.0	414.0	416.0					12																	55421134		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421134G>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.911G>A	12.37:g.55421134G>A	ENSP00000242994:p.Arg304His						p.R304H	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN			2	1289	+			304					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.911G>A	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864681	0.51482	.	.	ENSG00000123307	ENST00000242994	D	0.97016	-4.21	5.85	3.97	0.46021	.	0.052507	0.85682	N	0.000000	D	0.94673	0.8282	M	0.75615	2.305	0.58432	D	0.999995	B	0.16802	0.019	B	0.09377	0.004	D	0.91728	0.5394	10	0.72032	D	0.01	-13.3135	9.2249	0.37400	0.186:0.0:0.814:0.0	.	304	Q9HD90	NDF4_HUMAN	H	304	ENSP00000242994:R304H	ENSP00000242994:R304H	R	+	2	0	NEUROD4	53707401	1.000000	0.71417	0.884000	0.34674	0.979000	0.70002	4.869000	0.63028	0.868000	0.35678	0.655000	0.94253	CGT		PASS	0.458	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			249	666	249	666	---	---	---	---
LRRC10	376132	broad.mit.edu	37	12	70004126	70004126	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:70004126G>A	ENST00000361484.3	-	1	816	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	165					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)		p.R165C(1)		large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCCTGGAGGCGCCGGAGCTGG	0.612																																						uc001svc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)CGC>TGC		leucine rich repeat containing 10							51.0	50.0	51.0					12																	70004126		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004126G>A	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.493C>T	12.37:g.70004126G>A	ENSP00000355166:p.Arg165Cys						p.R165C	NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	817	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		165			LRR 5.		Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.493C>T	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447027	0.25987	.	.	ENSG00000198812	ENST00000361484	T	0.25414	1.8	5.62	2.78	0.32641	.	0.600804	0.19694	N	0.108200	T	0.18964	0.0455	L	0.52573	1.65	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.27088	-1.0084	10	0.49607	T	0.09	.	1.8733	0.03213	0.1979:0.115:0.4503:0.2368	.	165	Q5BKY1	LRC10_HUMAN	C	165	ENSP00000355166:R165C	ENSP00000355166:R165C	R	-	1	0	LRRC10	68290393	0.000000	0.05858	0.019000	0.16419	0.819000	0.46315	-0.098000	0.11024	0.399000	0.25367	0.555000	0.69702	CGC		PASS	0.612	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		28	86	28	86	---	---	---	---
SYT1	6857	broad.mit.edu	37	12	79747301	79747301	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:79747301T>C	ENST00000261205.4	+	9	1487	c.830T>C	c.(829-831)aTc>aCc	p.I277T	SYT1_ENST00000457153.2_Missense_Mutation_p.I274T|SYT1_ENST00000552744.1_Missense_Mutation_p.I277T|SYT1_ENST00000393240.3_Missense_Mutation_p.I277T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	277	Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.I277T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TTGGGTGATATCTGCTTCTCC	0.373																																						uc001sys.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(2)|ovary(1)	6						c.(829-831)ATC>ACC		synaptotagmin I							196.0	184.0	188.0					12																	79747301		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79747301T>C		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.830T>C	12.37:g.79747301T>C	ENSP00000261205:p.Ile277Thr					SYT1_uc001syt.2_Missense_Mutation_p.I277T|SYT1_uc001syu.2_Missense_Mutation_p.I274T|SYT1_uc001syv.2_Missense_Mutation_p.I277T	p.I277T	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			10	1501	+			277			Cytoplasmic (Potential).|Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.830T>C	CCDS9017.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.1|24.1	4.490163|4.490163	0.84962|0.84962	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744|ENST00000549559	T;T;T;T|.	0.76709|.	-1.04;-1.04;-1.04;-1.04|.	6.06|6.06	6.06|6.06	0.98353|0.98353	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87513|0.87513	0.6196|0.6196	H|H	0.95294|0.95294	3.65|3.65	0.80722|0.80722	D|D	1|1	P;P|.	0.41524|.	0.753;0.753|.	B;B|.	0.40602|.	0.334;0.334|.	D|D	0.91054|0.91054	0.4880|0.4880	10|5	0.87932|.	D|.	0|.	.|.	16.6245|16.6245	0.84952|0.84952	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	277;277|.	Q6AI31;P21579|.	.;SYT1_HUMAN|.	T|P	277;277;274;277|179	ENSP00000376932:I277T;ENSP00000261205:I277T;ENSP00000391056:I274T;ENSP00000447575:I277T|.	ENSP00000261205:I277T|.	I|S	+|+	2|1	0|0	SYT1|SYT1	78271432|78271432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.040000|8.040000	0.89188|0.89188	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	ATC|TCT		PASS	0.373	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		116	320	116	320	---	---	---	---
DCN	1634	broad.mit.edu	37	12	91550874	91550874	+	Silent	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:91550874G>T	ENST00000052754.5	-	5	1131	c.630C>A	c.(628-630)acC>acA	p.T210T	DCN_ENST00000552962.1_Silent_p.T210T|DCN_ENST00000441303.2_Intron|DCN_ENST00000228329.5_Silent_p.T101T|DCN_ENST00000393155.1_Silent_p.T210T|DCN_ENST00000425043.1_Intron|DCN_ENST00000420120.2_Silent_p.T101T|DCN_ENST00000547568.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	210					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.T210T(2)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGGTGATATTGGTATCAGCAA	0.373																																						uc001tbs.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(628-630)ACC>ACA		decorin isoform a preproprotein							132.0	125.0	127.0					12																	91550874		2203	4300	6503	SO:0001819	synonymous_variant	1634				organ morphogenesis	extracellular space		g.chr12:91550874G>T	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.630C>A	12.37:g.91550874G>T						DCN_uc001tbo.2_Silent_p.T101T|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Silent_p.T210T|DCN_uc001tbu.2_Silent_p.T210T	p.T210T	NM_133503	NP_598010	P07585	PGS2_HUMAN			4	724	-			210			LRR 6.		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Silent	SNP	ENST00000052754.5	37	c.630C>A	CCDS9039.1																																																																																				PASS	0.373	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		5	309	5	309	---	---	---	---
USP44	84101	broad.mit.edu	37	12	95907432	95907432	+	IGR	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:95907432C>T	ENST00000258499.3	-	0	4022				METAP2_ENST00000546753.1_Missense_Mutation_p.P374S|METAP2_ENST00000550777.1_Missense_Mutation_p.P361S|METAP2_ENST00000261220.9_Missense_Mutation_p.P374S|METAP2_ENST00000551840.1_Missense_Mutation_p.P396S|METAP2_ENST00000323666.5_Missense_Mutation_p.P397S	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.P397S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TCTTAGGCTTCCAAGAACAAA	0.408																																						uc001tec.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1189-1191)CCA>TCA		methionyl aminopeptidase 2	L-Methionine(DB00134)						78.0	77.0	77.0					12																	95907432		2203	4300	6503	SO:0001628	intergenic_variant	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95907432C>T	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7			12.37:g.95907432C>T						METAP2_uc010suv.1_Missense_Mutation_p.P374S|METAP2_uc009ztd.2_Missense_Mutation_p.P361S|METAP2_uc001ted.2_Missense_Mutation_p.P396S|METAP2_uc001tef.2_Missense_Mutation_p.P374S|METAP2_uc001tee.2_RNA	p.P397S	NM_006838	NP_006829	P50579	AMPM2_HUMAN			11	1323	+			397					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1189C>T	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003766	0.35320	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	.	.	.	5.83	5.83	0.93111	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	L	0.46614	1.455	0.80722	D	1	B;B;B;B;B	0.26577	0.054;0.032;0.153;0.044;0.054	B;B;B;B;B	0.21546	0.035;0.012;0.034;0.021;0.035	T	0.52019	-0.8631	9	0.16896	T	0.51	-12.8057	20.1208	0.97960	0.0:1.0:0.0:0.0	.	374;361;374;396;397	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	S	397;374;374;361;396	.	ENSP00000261220:P374S	P	+	1	0	METAP2	94431563	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.487000	0.81328	2.758000	0.94735	0.655000	0.94253	CCA		PASS	0.408	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		56	169	56	169	---	---	---	---
NTN4	59277	broad.mit.edu	37	12	96076537	96076537	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:96076537C>T	ENST00000343702.4	-	7	1904	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	NTN4_ENST00000553059.1_Missense_Mutation_p.E486K|NTN4_ENST00000344911.4_Missense_Mutation_p.E449K|NTN4_ENST00000538383.1_Missense_Mutation_p.E449K	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	486					axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)		p.E486K(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAGGCTGGTTCGCTCTTATTG	0.458																																						uc001tei.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1456-1458)GAA>AAA		netrin 4 precursor							148.0	122.0	131.0					12																	96076537		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96076537C>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1456G>A	12.37:g.96076537C>T	ENSP00000340998:p.Glu486Lys					NTN4_uc009ztf.2_Missense_Mutation_p.E486K|NTN4_uc009ztg.2_Missense_Mutation_p.E449K	p.E486K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			7	1905	-			486					B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.1456G>A	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898760	0.33535	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.37584	1.22;1.19;1.19;1.33	5.28	4.39	0.52855	.	0.330787	0.34906	N	0.003594	T	0.25606	0.0623	L	0.41961	1.31	0.27757	N	0.943942	B;B	0.21606	0.058;0.016	B;B	0.19946	0.027;0.005	T	0.21348	-1.0248	10	0.10902	T	0.67	.	7.7694	0.28999	0.0:0.7194:0.1334:0.1472	.	486;486	Q9HB63-2;Q9HB63	.;NET4_HUMAN	K	486;449;449;486	ENSP00000340998:E486K;ENSP00000339436:E449K;ENSP00000444432:E449K;ENSP00000447292:E486K	ENSP00000340998:E486K	E	-	1	0	NTN4	94600668	0.902000	0.30710	0.452000	0.26994	0.517000	0.34286	1.979000	0.40608	1.232000	0.43678	0.462000	0.41574	GAA		PASS	0.458	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		56	109	56	109	---	---	---	---
GAS2L3	283431	broad.mit.edu	37	12	101005805	101005805	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:101005805A>T	ENST00000539410.1	+	5	717	c.331A>T	c.(331-333)Aag>Tag	p.K111*	GAS2L3_ENST00000547754.1_Nonsense_Mutation_p.K111*|GAS2L3_ENST00000266754.5_Nonsense_Mutation_p.K111*|GAS2L3_ENST00000537247.1_Nonsense_Mutation_p.K7*			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	111	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.K111*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AGTGCCCTGTAAGAAAGATGC	0.363																																						uc001thu.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(331-333)AAG>TAG		growth arrest-specific 2 like 3							131.0	127.0	129.0					12																	101005805		2203	4300	6503	SO:0001587	stop_gained	283431				cell cycle arrest			g.chr12:101005805A>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.331A>T	12.37:g.101005805A>T	ENSP00000439672:p.Lys111*					GAS2L3_uc009zty.2_Nonsense_Mutation_p.K111*|GAS2L3_uc001thv.2_Nonsense_Mutation_p.K7*	p.K111*	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			6	557	+			111			CH.		B2RCN2	Nonsense_Mutation	SNP	ENST00000539410.1	37	c.331A>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	41	9.092555	0.99062	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	.	.	.	5.81	5.81	0.92471	.	0.101290	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4927	16.2108	0.82158	1.0:0.0:0.0:0.0	.	.	.	.	X	111;111;7;111	.	ENSP00000266754:K111X	K	+	1	0	GAS2L3	99529936	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.796000	0.69080	2.230000	0.72887	0.456000	0.33151	AAG		PASS	0.363	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		62	189	62	189	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133372541	133372541	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:133372541T>G	ENST00000450791.2	-	10	2549	c.2366A>C	c.(2365-2367)aAg>aCg	p.K789T	GOLGA3_ENST00000456883.2_Missense_Mutation_p.K789T|GOLGA3_ENST00000204726.3_Missense_Mutation_p.K789T|GOLGA3_ENST00000537452.1_Missense_Mutation_p.K789T|GOLGA3_ENST00000545875.1_Missense_Mutation_p.K789T			Q08378	GOGA3_HUMAN	golgin A3	789					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.K789T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AAGCTCCTCCTTGCCACTCTT	0.552																																						uc001ukz.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2365-2367)AAG>ACG		Golgi autoantigen, golgin subfamily a, 3							73.0	75.0	74.0					12																	133372541		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133372541T>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2366A>C	12.37:g.133372541T>G	ENSP00000410378:p.Lys789Thr					GOLGA3_uc001ula.1_Missense_Mutation_p.K789T|GOLGA3_uc001ulb.2_Missense_Mutation_p.K789T	p.K789T	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	11	2925	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	789			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2366A>C	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524025	0.44866	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.41400	1.56;1.56;1.54;1.0;1.0	5.54	0.651	0.17817	.	0.435749	0.29752	N	0.011281	T	0.34861	0.0912	L	0.48642	1.525	0.80722	D	1	P;B;P	0.40834	0.496;0.355;0.73	B;B;P	0.44518	0.276;0.276;0.452	T	0.04991	-1.0913	10	0.25751	T	0.34	.	6.9887	0.24743	0.1405:0.1017:0.0:0.7578	.	789;789;789	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	T	789	ENSP00000204726:K789T;ENSP00000410378:K789T;ENSP00000409303:K789T;ENSP00000442143:K789T;ENSP00000442603:K789T	ENSP00000204726:K789T	K	-	2	0	GOLGA3	131882614	1.000000	0.71417	0.322000	0.25334	0.208000	0.24298	2.865000	0.48412	-0.111000	0.12001	0.533000	0.62120	AAG		PASS	0.552	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		53	144	53	144	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48953728	48953728	+	Splice_Site	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr13:48953728A>G	ENST00000267163.4	+	14	1470		c.e14-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTTTGTTTGTAGCGATACAAA	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		25	Whole gene deletion(15)|Unknown(10)	p.?(7)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CS030552	RB1	S		c.e14-2		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						18.0	19.0	19.0					13																	48953728		2200	4299	6499	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48953728A>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1333-1A>G	13.37:g.48953728A>G		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R445_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	14	1499	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1333_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605344	0.87157	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0294	0.80567	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47851729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.469000	0.90395	2.185000	0.69588	0.455000	0.32223	.		PASS	0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	10	23	10	23	---	---	---	---
KLF5	688	broad.mit.edu	37	13	73649905	73649905	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr13:73649905G>C	ENST00000377687.4	+	4	1791	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	KLF5_ENST00000539231.1_Missense_Mutation_p.E328Q	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	419					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E419Q(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592																																						uc001vje.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1255-1257)GAG>CAG		Kruppel-like factor 5							61.0	60.0	61.0					13																	73649905		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73649905G>C	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1255G>C	13.37:g.73649905G>C	ENSP00000366915:p.Glu419Gln					KLF5_uc001vjd.2_Missense_Mutation_p.E328Q	p.E419Q	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	4	1579	+		Prostate(6;0.00187)|Breast(118;0.0735)	419			C2H2-type 2.		L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.1255G>C	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794267	0.90453	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.51817	0.69;0.69	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	N	0.16567	0.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62416	-0.6859	10	0.87932	D	0	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	419	Q13887	KLF5_HUMAN	Q	328;419;399	ENSP00000440407:E328Q;ENSP00000366915:E419Q	ENSP00000366915:E419Q	E	+	1	0	KLF5	72547906	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAG		PASS	0.592	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			38	54	38	54	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101726913	101726913	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr13:101726913G>T	ENST00000251127.6	-	36	4136	c.4055C>A	c.(4054-4056)gCt>gAt	p.A1352D		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1352					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.A1352D(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACAACTCCAGCAAAAGCGTA	0.378																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(4054-4056)GCT>GAT		voltage gated channel like 1							100.0	99.0	100.0					13																	101726913		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101726913G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4055C>A	13.37:g.101726913G>T	ENSP00000251127:p.Ala1352Asp						p.A1352D	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			36	4244	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1352			Helical; Name=S5 of repeat IV; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4055C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080462	0.94050	.	.	ENSG00000102452	ENST00000251127	D	0.98602	-5.02	5.8	5.8	0.92144	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	M	0.85197	2.74	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.99601	1.0978	10	0.66056	D	0.02	.	20.0977	0.97857	0.0:0.0:1.0:0.0	.	1352	Q8IZF0	NALCN_HUMAN	D	1352	ENSP00000251127:A1352D	ENSP00000251127:A1352D	A	-	2	0	NALCN	100524914	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.476000	0.97823	2.767000	0.95098	0.585000	0.79938	GCT		PASS	0.378	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		49	80	49	80	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861232	108861232	+	Silent	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr13:108861232C>A	ENST00000356922.4	-	2	2657	c.2385G>T	c.(2383-2385)ctG>ctT	p.L795L	LIG4_ENST00000405925.1_Silent_p.L795L|LIG4_ENST00000442234.1_Silent_p.L795L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	795					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L795L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AATCAGCAATCAGAGAAGCCA	0.393								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2383-2385)CTG>CTT	NHEJ	DNA ligase IV							60.0	61.0	60.0					13																	108861232		2203	4300	6503	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861232C>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2385G>T	13.37:g.108861232C>A						LIG4_uc001vqo.2_Silent_p.L795L|LIG4_uc010agg.1_Silent_p.L728L|LIG4_uc010agf.2_Silent_p.L795L|LIG4_uc001vqp.2_Silent_p.L795L	p.L795L	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	2658	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		795					Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.2385G>T	CCDS9508.1																																																																																				PASS	0.393	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		65	57	65	57	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23886840	23886840	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr14:23886840C>T	ENST00000355349.3	-	31	4387	c.4225G>A	c.(4225-4227)Gcc>Acc	p.A1409T	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1409					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.A1409T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGCACTTGGCATTAACAGCC	0.622																																						uc001wjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4225-4227)GCC>ACC		myosin, heavy chain 7, cardiac muscle, beta							90.0	84.0	86.0					14																	23886840		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886840C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4225G>A	14.37:g.23886840C>T	ENSP00000347507:p.Ala1409Thr						p.A1409T	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	31	4331	-	all_cancers(95;2.54e-05)		1409			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4225G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554375	0.86231	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78924	-1.22	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.88403	0.6427	M	0.78916	2.43	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89126	0.3506	9	0.59425	D	0.04	.	18.4709	0.90774	0.0:1.0:0.0:0.0	.	1409	P12883	MYH7_HUMAN	T	1409;1414	ENSP00000347507:A1409T	ENSP00000347507:A1409T	A	-	1	0	MYH7	22956680	0.964000	0.33143	0.986000	0.45419	0.685000	0.39939	2.303000	0.43646	2.609000	0.88269	0.561000	0.74099	GCC		PASS	0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		25	78	25	78	---	---	---	---
DHRS4L1	728635	broad.mit.edu	37	14	24517986	24517986	+	RNA	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr14:24517986C>A	ENST00000558293.1	+	0	634					NR_102693.1																						AACTGCCTAGCACCTGGACTT	0.527																																						uc010alc.2																			0					0						c.(640-642)GCA>GAA		dehydrogenase/reductase (SDR family) member 4							145.0	142.0	143.0					14																	24517986		2203	4298	6501			728635						binding|oxidoreductase activity	g.chr14:24517986C>A																													14.37:g.24517986C>A						DHRS4L1_uc010tnu.1_RNA	p.A214E	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN			8	641	+			214						Missense_Mutation	SNP	ENST00000558293.1	37	c.641C>A		.	.	.	.	.	.	.	.	.	.	C	16.48	3.134503	0.56828	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.67	4.67	0.58626	NAD(P)-binding domain (1);	.	.	.	.	T	0.81143	0.4761	M	0.86740	2.835	.	.	.	D	0.71674	0.998	D	0.75484	0.986	D	0.86276	0.1664	7	0.87932	D	0	.	15.0956	0.72232	0.0:1.0:0.0:0.0	.	214	P0CG22	DR4L1_HUMAN	E	214	.	ENSP00000380255:A214E	A	+	2	0	AL136295.1	23587826	1.000000	0.71417	0.991000	0.47740	0.477000	0.33069	6.163000	0.71880	2.418000	0.82041	0.400000	0.26472	GCA		PASS	0.527	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			5	472	5	472	---	---	---	---
DLGAP5	9787	broad.mit.edu	37	14	55642126	55642126	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr14:55642126G>A	ENST00000247191.2	-	10	1455	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	DLGAP5_ENST00000395425.2_Silent_p.V413V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	413					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.V413V(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAGTGATGGGACTTCTTTTA	0.303																																						uc001xbs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1237-1239)GTC>GTT		discs large homolog 7 isoform a							69.0	66.0	67.0					14																	55642126		2203	4300	6503	SO:0001819	synonymous_variant	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55642126G>A	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1239C>T	14.37:g.55642126G>A						DLGAP5_uc001xbt.2_Silent_p.V413V	p.V413V	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			10	1456	-			413					A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	ENST00000247191.2	37	c.1239C>T	CCDS9723.1																																																																																				PASS	0.303	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		11	43	11	43	---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59105230	59105230	+	Missense_Mutation	SNP	T	T	A	rs376256989		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr14:59105230T>A	ENST00000335867.4	+	1	334	c.310T>A	c.(310-312)Ttg>Atg	p.L104M	DACT1_ENST00000395153.3_Missense_Mutation_p.L104M|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000541264.2_5'Flank			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	104	Required for self-association. {ECO:0000250}.				dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.L104M(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGAGAAGTTCTTGGAGGAGAA	0.701																																						uc001xdw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(310-312)TTG>ATG		dapper 1 isoform 1							30.0	33.0	32.0					14																	59105230		1930	4113	6043	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59105230T>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.310T>A	14.37:g.59105230T>A	ENSP00000337439:p.Leu104Met					DACT1_uc010trv.1_Intron|DACT1_uc001xdx.2_Missense_Mutation_p.L104M|DACT1_uc010trw.1_5'Flank	p.L104M	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			1	474	+			104			Potential.		A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.310T>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124933	0.56613	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.59772	0.24;0.24	3.3	-0.541	0.11858	.	0.000000	0.51477	D	0.000091	T	0.68421	0.2999	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.938;0.999	T	0.64398	-0.6417	10	0.72032	D	0.01	-5.645	4.4142	0.11448	0.1692:0.4345:0.0:0.3963	.	104;104	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	M	104	ENSP00000378582:L104M;ENSP00000337439:L104M	ENSP00000337439:L104M	L	+	1	2	DACT1	58174983	0.421000	0.25465	0.995000	0.50966	0.702000	0.40608	0.585000	0.23879	-0.317000	0.08677	0.260000	0.18958	TTG		PASS	0.701	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		14	31	14	31	---	---	---	---
SERPINA11	256394	broad.mit.edu	37	14	94909437	94909437	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr14:94909437T>A	ENST00000334708.3	-	4	1107	c.1043A>T	c.(1042-1044)cAg>cTg	p.Q348L	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	348					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q530L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TTTGTTGAGCTGCCCAGTGAC	0.448																																						uc001ydd.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1042-1044)CAG>CTG		serpin peptidase inhibitor, clade A (alpha-1							160.0	145.0	150.0					14																	94909437		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94909437T>A	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.1043A>T	14.37:g.94909437T>A	ENSP00000335024:p.Gln348Leu						p.Q348L	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	4	1103	-			348					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.1043A>T	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.387839	0.25031	.	.	ENSG00000186910	ENST00000334708	D	0.88046	-2.33	6.04	-2.49	0.06403	Serpin domain (3);	1.303290	0.05242	N	0.512358	D	0.83538	0.5276	M	0.76328	2.33	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.63457	-0.6633	10	0.46703	T	0.11	.	1.8246	0.03118	0.3735:0.1162:0.1019:0.4084	.	348	Q86U17	SPA11_HUMAN	L	348	ENSP00000335024:Q348L	ENSP00000335024:Q348L	Q	-	2	0	SERPINA11	93979190	0.000000	0.05858	0.228000	0.23943	0.556000	0.35491	-0.347000	0.07750	-0.685000	0.05177	0.460000	0.39030	CAG		PASS	0.448	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		90	306	90	306	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95033547	95033547	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr14:95033547T>C	ENST00000557004.1	+	3	1311	c.890T>C	c.(889-891)aTg>aCg	p.M297T	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.M297T|SERPINA4_ENST00000555095.1_Missense_Mutation_p.M297T			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	297					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M297T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACTCCAGAGATGCTAATGAGG	0.438																																						uc001ydk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(889-891)ATG>ACG		serine (or cysteine) proteinase inhibitor, clade							94.0	93.0	93.0					14																	95033547		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033547T>C	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.890T>C	14.37:g.95033547T>C	ENSP00000450838:p.Met297Thr					SERPINA4_uc010avd.2_Missense_Mutation_p.M334T|SERPINA4_uc001ydl.2_Missense_Mutation_p.M297T	p.M297T	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	956	+			297					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.890T>C	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	T	2.765	-0.257004	0.05829	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.83506	-1.73;-1.73;-1.73	4.13	2.98	0.34508	Serpin domain (3);	0.619574	0.14662	N	0.305890	T	0.57710	0.2072	N	0.10645	0.015	0.09310	N	0.999996	B;B	0.11235	0.003;0.004	B;B	0.12156	0.007;0.001	T	0.49263	-0.8958	10	0.02654	T	1	.	2.9421	0.05834	0.1868:0.2162:0.0:0.597	.	297;297	B2R815;P29622	.;KAIN_HUMAN	T	297	ENSP00000450838:M297T;ENSP00000451172:M297T;ENSP00000298841:M297T	ENSP00000298841:M297T	M	+	2	0	SERPINA4	94103300	0.000000	0.05858	0.006000	0.13384	0.139000	0.21198	0.511000	0.22739	0.716000	0.32124	0.459000	0.35465	ATG		PASS	0.438	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		47	115	47	115	---	---	---	---
BTBD6	90135	broad.mit.edu	37	14	105716320	105716320	+	Missense_Mutation	SNP	G	G	A	rs140283852	byFrequency	TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr14:105716320G>A	ENST00000392554.3	+	4	1066	c.769G>A	c.(769-771)Gag>Aag	p.E257K	BRF1_ENST00000392557.4_5'Flank|BRF1_ENST00000551787.1_5'Flank|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.E257K|BRF1_ENST00000379932.4_5'Flank|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.E182K|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000446501.2_5'Flank|BTBD6_ENST00000463376.2_Missense_Mutation_p.E182K			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	257						cytoplasm (GO:0005737)		p.E182K(1)		endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GAACTGGGCCGAGGCGGAGTG	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		17521	0.0		0.0	False		,,,				2504	0.0031					uc010tyq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)GAG>AAG		BTB domain protein BDPL		G	,,,,LYS/GLU	1,4395		0,1,2197	31.0	29.0	30.0		,,,,769	5.1	0.4	14	dbSNP_134	30	0,8580		0,0,4290	no	intron,intron,intron,intron,missense	BRF1,BTBD6	NM_001242786.1,NM_001242787.1,NM_001242788.1,NM_001519.3,NM_033271.2	,,,,56	0,1,6487	AA,AG,GG		0.0,0.0227,0.0077	,,,,benign	,,,,257/486	105716320	1,12975	2198	4290	6488	SO:0001583	missense	90135					cytoplasmic mRNA processing body		g.chr14:105716320G>A	AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"""BTB/POZ domain containing"""	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.769G>A	14.37:g.105716320G>A	ENSP00000376337:p.Glu257Lys					BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	p.E257K	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)	5	877	+		Melanoma(154;0.226)	257					Q8IVQ7|Q9BR94	Missense_Mutation	SNP	ENST00000392554.3	37	c.769G>A	CCDS10002.2	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790469	0.50102	2.27E-4	0.0	ENSG00000184887	ENST00000536364;ENST00000537513;ENST00000392554;ENST00000327471	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.07	5.07	0.68467	BTB/Kelch-associated (2);	0.225075	0.45126	D	0.000388	T	0.58963	0.2159	L	0.56280	1.765	0.80722	D	1	B	0.18166	0.026	B	0.15870	0.014	T	0.57499	-0.7801	10	0.46703	T	0.11	-21.4392	15.9457	0.79792	0.0:0.0:1.0:0.0	.	257	Q96KE9	BTBD6_HUMAN	K	257;257;257;182	ENSP00000443091:E257K;ENSP00000446223:E257K;ENSP00000376337:E257K;ENSP00000329361:E182K	ENSP00000329361:E182K	E	+	1	0	BTBD6	104787365	1.000000	0.71417	0.387000	0.26183	0.784000	0.44337	6.521000	0.73778	2.331000	0.79229	0.563000	0.77884	GAG		PASS	0.597	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			21	45	21	45	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						uc001ytg.2																			4	Substitution - Missense(4)		lung(3)|endometrium(1)								c.(2407-2409)GCG>GTG		RecName: Full=Putative HERC2-like protein 3;							116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.A803V|uc010tyy.1_Missense_Mutation_p.A803V	p.A803V							21	3117	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.2408C>T																																																																																					PASS	0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	133	4	133	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31294626	31294626	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr15:31294626G>T	ENST00000256552.6	-	28	4424	c.4277C>A	c.(4276-4278)aCg>aAg	p.T1426K	TRPM1_ENST00000397795.2_Missense_Mutation_p.T1404K|TRPM1_ENST00000542188.1_Missense_Mutation_p.T1443K|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.T1404K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TATATTTGTCGTTTCCACTGT	0.363																																						uc001zfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(4210-4212)ACG>AAG		transient receptor potential cation channel,							164.0	153.0	157.0					15																	31294626		1868	4112	5980	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294626G>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4277C>A	15.37:g.31294626G>T	ENSP00000256552:p.Thr1426Lys					TRPM1_uc010azy.2_Missense_Mutation_p.T1311K|TRPM1_uc001zfl.2_RNA	p.T1404K	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4339	-		all_lung(180;1.92e-11)	1404			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.4211C>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.481556	0.00163	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.47869	0.85;0.83;0.86	4.39	-0.568	0.11760	.	0.338931	0.22501	N	0.059221	T	0.20414	0.0491	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.15870	0.014;0.006	T	0.09079	-1.0691	10	0.33141	T	0.24	-5.1992	4.0246	0.09682	0.0935:0.4934:0.2222:0.1908	.	1398;1404	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	K	1404;1443;1426;1404	ENSP00000380897:T1404K;ENSP00000437849:T1443K;ENSP00000256552:T1426K	ENSP00000256552:T1426K	T	-	2	0	TRPM1	29081918	0.002000	0.14202	0.090000	0.20809	0.067000	0.16453	0.021000	0.13489	0.293000	0.22520	0.650000	0.86243	ACG		PASS	0.363	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		198	171	198	171	---	---	---	---
C15orf54	400360	broad.mit.edu	37	15	39544396	39544396	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468																																						uc001zkg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)CCG>CCA		hypothetical protein LOC400360							200.0	201.0	200.0					15																	39544396		2200	4297	6497	SO:0001819	synonymous_variant	400360							g.chr15:39544396G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.60G>A	15.37:g.39544396G>A							p.P20P	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	428	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	20					B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.60G>A	CCDS10049.1																																																																																				PASS	0.468	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		7	864	7	864	---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42445844	42445844	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr15:42445844C>T	ENST00000382396.4	-	5	551	c.465G>A	c.(463-465)ctG>ctA	p.L155L	PLA2G4F_ENST00000397272.3_Silent_p.L155L			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	155					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.L155L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ATTCCACCTGCAGCTCTTGTG	0.552																																						uc001zoz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(463-465)CTG>CTA		phospholipase A2, group IVF							63.0	64.0	64.0					15																	42445844		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42445844C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.465G>A	15.37:g.42445844C>T						PLA2G4F_uc010bcr.2_5'UTR|PLA2G4F_uc001zpa.2_5'UTR|PLA2G4F_uc010bcs.2_5'UTR	p.L155L	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	5	528	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	155					Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.465G>A	CCDS32204.1																																																																																				PASS	0.552	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		33	96	33	96	---	---	---	---
EPB42	2038	broad.mit.edu	37	15	43494124	43494124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr15:43494124G>A	ENST00000441366.2	-	12	2056	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	EPB42_ENST00000300215.3_Nonsense_Mutation_p.Q641*|EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Nonsense_Mutation_p.Q533*	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	611					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)	p.Q641*(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGGGAGTTCTGGAGGCTGACT	0.562																																						uc001zra.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1831-1833)CAG>TAG		erythrocyte membrane protein band 4.2 isoform 2							138.0	127.0	131.0					15																	43494124		2203	4299	6502	SO:0001587	stop_gained	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43494124G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1831C>T	15.37:g.43494124G>A	ENSP00000396616:p.Gln611*					EPB42_uc001zqz.3_Nonsense_Mutation_p.Q278*|EPB42_uc010bde.2_Missense_Mutation_p.P402L|EPB42_uc001zrb.3_Nonsense_Mutation_p.Q641*|EPB42_uc010udm.1_Nonsense_Mutation_p.Q533*	p.Q611*	NM_001114134	NP_001107606	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	12	2131	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	611					Q4KKX0|Q4VB97	Nonsense_Mutation	SNP	ENST00000441366.2	37	c.1831C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	37	6.376794	0.97515	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	.	.	.	4.59	1.59	0.23543	.	0.871578	0.10324	N	0.688428	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8937	4.0969	0.09995	0.1973:0.0:0.6191:0.1836	.	.	.	.	X	641;533;611;539	.	ENSP00000300215:Q641X	Q	-	1	0	EPB42	41281416	0.868000	0.29978	0.140000	0.22221	0.362000	0.29581	2.272000	0.43373	0.241000	0.21283	-0.258000	0.10820	CAG		PASS	0.562	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		83	219	83	219	---	---	---	---
PYGO1	26108	broad.mit.edu	37	15	55838815	55838815	+	Silent	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr15:55838815A>G	ENST00000302000.6	-	3	760	c.666T>C	c.(664-666)ttT>ttC	p.F222F	PYGO1_ENST00000563719.1_Silent_p.F222F	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	222	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.F222F(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGGGAGGAATAAAAGAATGAT	0.383																																						uc010bfl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(664-666)TTT>TTC		pygopus homolog 1							72.0	79.0	77.0					15																	55838815		2190	4292	6482	SO:0001819	synonymous_variant	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838815A>G	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.666T>C	15.37:g.55838815A>G						PYGO1_uc002adf.1_Silent_p.F222F	p.F222F	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	722	-			222			Asn-rich.		A7Y2D6	Silent	SNP	ENST00000302000.6	37	c.666T>C	CCDS10155.1																																																																																				PASS	0.383	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		99	297	99	297	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2811974	2811974	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:2811974G>T	ENST00000301740.8	+	11	1994	c.1445G>T	c.(1444-1446)gGg>gTg	p.G482V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	482	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.G482V(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGTAGGATGGGGAGGTCCCGT	0.562																																						uc002crk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1444-1446)GGG>GTG		splicing coactivator subunit SRm300							73.0	65.0	67.0					16																	2811974		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2811974G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1445G>T	16.37:g.2811974G>T	ENSP00000301740:p.Gly482Val					SRRM2_uc002crj.1_Missense_Mutation_p.G386V|SRRM2_uc002crl.1_Missense_Mutation_p.G482V|SRRM2_uc010bsu.1_Missense_Mutation_p.G386V	p.G482V	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	1994	+			482			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1445G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	6.014	0.370917	0.11409	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.27557	1.66	6.07	4.05	0.47172	.	0.198896	0.35739	N	0.003009	T	0.23649	0.0572	N	0.24115	0.695	0.50171	D	0.999858	P	0.43287	0.802	B	0.40702	0.338	T	0.03287	-1.1052	10	0.72032	D	0.01	-8.7541	13.3374	0.60524	0.0:0.3015:0.6985:0.0	.	482	Q9UQ35	SRRM2_HUMAN	V	482;482;447	ENSP00000301740:G482V	ENSP00000301740:G482V	G	+	2	0	SRRM2	2751975	0.959000	0.32827	0.935000	0.37517	0.515000	0.34225	1.680000	0.37607	0.842000	0.35045	0.655000	0.94253	GGG		PASS	0.562	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			37	119	37	119	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11056372	11056372	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:11056372C>T	ENST00000409790.1	+	3	500	c.270C>T	c.(268-270)ggC>ggT	p.G90G	CLEC16A_ENST00000409552.3_Silent_p.G90G	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.G90G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAAAGTCGGGCCGTTACGTGT	0.473																																						uc002dao.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(268-270)GGC>GGT		C-type lectin domain family 16, member A							229.0	213.0	218.0					16																	11056372		2054	4209	6263	SO:0001819	synonymous_variant	23274							g.chr16:11056372C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.270C>T	16.37:g.11056372C>T						CLEC16A_uc002dan.3_Silent_p.G90G	p.G90G	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			3	500	+			90						Silent	SNP	ENST00000409790.1	37	c.270C>T	CCDS45409.1																																																																																				PASS	0.473	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		96	253	96	253	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30978880	30978880	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:30978880C>T	ENST00000262519.8	+	10	3427	c.2741C>T	c.(2740-2742)cCc>cTc	p.P914L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	914	Glu-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P914L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGCCTCGTCCCTCCACTCCT	0.557																																						uc002ead.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2740-2742)CCC>CTC		SET domain containing 1A							74.0	65.0	68.0					16																	30978880		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30978880C>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2741C>T	16.37:g.30978880C>T	ENSP00000262519:p.Pro914Leu						p.P914L	NM_014712	NP_055527	O15047	SET1A_HUMAN			10	3427	+			914			Glu-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.2741C>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355351	0.82243	.	.	ENSG00000099381	ENST00000262519	T	0.57436	0.4	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66122	-0.6002	10	0.42905	T	0.14	.	18.0538	0.89357	0.0:1.0:0.0:0.0	.	914	O15047	SET1A_HUMAN	L	914	ENSP00000262519:P914L	ENSP00000262519:P914L	P	+	2	0	SETD1A	30886381	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.291000	0.65667	2.798000	0.96311	0.650000	0.86243	CCC		PASS	0.557	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		39	61	39	61	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31391090	31391090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:31391090G>T	ENST00000268296.4	+	25	3002	c.2881G>T	c.(2881-2883)Gga>Tga	p.G961*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.G961*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	961					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.G961*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAATAACCTGGGACAGAGGGA	0.632																																						uc002ebu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2881-2883)GGA>TGA		integrin alpha X precursor							41.0	36.0	38.0					16																	31391090		2197	4300	6497	SO:0001587	stop_gained	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31391090G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2881G>T	16.37:g.31391090G>T	ENSP00000268296:p.Gly961*					ITGAX_uc002ebt.2_Nonsense_Mutation_p.G961*	p.G961*	NM_000887	NP_000878	P20702	ITAX_HUMAN			25	2948	+			961			Extracellular (Potential).		Q8IVA6	Nonsense_Mutation	SNP	ENST00000268296.4	37	c.2881G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	36	5.712591	0.96830	.	.	ENSG00000140678	ENST00000268296	.	.	.	4.58	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	7.135	0.25523	0.2064:0.0:0.7936:0.0	.	.	.	.	X	961	.	ENSP00000268296:G961X	G	+	1	0	ITGAX	31298591	1.000000	0.71417	0.918000	0.36340	0.287000	0.27160	2.260000	0.43267	0.660000	0.30964	0.313000	0.20887	GGA		PASS	0.632	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		25	54	25	54	---	---	---	---
SHCBP1	79801	broad.mit.edu	37	16	46638350	46638350	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:46638350C>G	ENST00000303383.3	-	6	979	c.713G>C	c.(712-714)cGa>cCa	p.R238P		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	238					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)			p.R238P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TGATGGAACTCGGTCTTCAAG	0.383																																						uc002eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(712-714)CGA>CCA		SHC SH2-domain binding protein 1							84.0	86.0	85.0					16																	46638350		2203	4299	6502	SO:0001583	missense	79801							g.chr16:46638350C>G	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.713G>C	16.37:g.46638350C>G	ENSP00000306473:p.Arg238Pro						p.R238P	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			6	753	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	238					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.713G>C	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933717	0.52866	.	.	ENSG00000171241	ENST00000303383	T	0.25579	1.79	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.53165	-0.8477	10	0.66056	D	0.02	-5.9133	16.9297	0.86187	0.0:1.0:0.0:0.0	.	238	Q8NEM2	SHCBP_HUMAN	P	238	ENSP00000306473:R238P	ENSP00000306473:R238P	R	-	2	0	SHCBP1	45195851	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	6.696000	0.74598	2.298000	0.77334	0.460000	0.39030	CGA		PASS	0.383	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		64	251	64	251	---	---	---	---
GPT2	84706	broad.mit.edu	37	16	46962845	46962845	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:46962845A>T	ENST00000340124.4	+	12	1620	c.1508A>T	c.(1507-1509)aAg>aTg	p.K503M	GPT2_ENST00000440783.2_Missense_Mutation_p.K403M	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	503					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.K503M(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CCAGTGGAGAAGCTGAAAACG	0.562																																						uc002eel.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1507-1509)AAG>ATG		glutamic pyruvate transaminase 2 isoform 1	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						122.0	89.0	100.0					16																	46962845		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46962845A>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1508A>T	16.37:g.46962845A>T	ENSP00000345282:p.Lys503Met					GPT2_uc002eem.2_Missense_Mutation_p.K403M|GPT2_uc002een.2_Missense_Mutation_p.K146M	p.K503M	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN			12	1602	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	503					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.1508A>T	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.931112	0.92389	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;D	0.90900	1.96;-2.75	4.59	4.59	0.56863	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.054020	0.64402	D	0.000001	D	0.95338	0.8487	M	0.88704	2.975	0.80722	D	1	D;D	0.71674	0.989;0.998	P;D	0.66602	0.841;0.945	D	0.95595	0.8658	10	0.51188	T	0.08	.	14.1189	0.65175	1.0:0.0:0.0:0.0	.	403;503	Q8TD30-2;Q8TD30	.;ALAT2_HUMAN	M	503;403	ENSP00000345282:K503M;ENSP00000413804:K403M	ENSP00000345282:K503M	K	+	2	0	GPT2	45520346	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.608000	0.90895	1.929000	0.55896	0.482000	0.46254	AAG		PASS	0.562	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			27	81	27	81	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48130667	48130667	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:48130667T>C	ENST00000311303.3	-	22	3530	c.3185A>G	c.(3184-3186)tAc>tGc	p.Y1062C	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1062	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Y1062C(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTGGATGATGTATGACAATGA	0.488																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3184-3186)TAC>TGC		ATP-binding cassette protein C12							210.0	192.0	198.0					16																	48130667		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48130667T>C	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3185A>G	16.37:g.48130667T>C	ENSP00000311030:p.Tyr1062Cys					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.Y1062C	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			22	3531	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1062			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.3185A>G	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113545	0.56398	.	.	ENSG00000140798	ENST00000311303	D	0.93426	-3.22	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.125415	0.56097	D	0.000031	D	0.96555	0.8876	M	0.85710	2.77	0.80722	D	1	D	0.56521	0.976	P	0.62885	0.908	D	0.97035	0.9753	10	0.72032	D	0.01	.	15.1241	0.72469	0.0:0.0:0.0:1.0	.	1062	Q96J65	MRP9_HUMAN	C	1062	ENSP00000311030:Y1062C	ENSP00000311030:Y1062C	Y	-	2	0	ABCC12	46688168	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	6.785000	0.75089	2.198000	0.70561	0.533000	0.62120	TAC		PASS	0.488	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		145	391	145	391	---	---	---	---
BRD7	29117	broad.mit.edu	37	16	50357560	50357560	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:50357560C>G	ENST00000394688.3	-	12	1540	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	BRD7_ENST00000394689.2_Missense_Mutation_p.D461H			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	461					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D461H(1)|p.D461N(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AGTAAACTATCTGCCATGACA	0.413																																						uc002egf.1																			2	Substitution - Missense(2)		lung(1)|breast(1)		0						c.(1381-1383)GAT>CAT		bromodomain containing 7							126.0	106.0	113.0					16																	50357560		2198	4300	6498	SO:0001583	missense	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50357560C>G	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1381G>C	16.37:g.50357560C>G	ENSP00000378180:p.Asp461His					BRD7_uc002ege.1_Missense_Mutation_p.D461H	p.D461H	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN			13	1448	-		all_cancers(37;0.0127)	461					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	c.1381G>C	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598999	0.87055	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.50813	0.73;0.73	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65333	0.2681	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.975	T	0.64402	-0.6416	10	0.54805	T	0.06	-17.1109	19.6668	0.95895	0.0:1.0:0.0:0.0	.	461;461	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	H	461	ENSP00000378180:D461H;ENSP00000378181:D461H	ENSP00000378180:D461H	D	-	1	0	BRD7	48915061	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.257000	0.78362	2.650000	0.89964	0.655000	0.94253	GAT		PASS	0.413	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		31	81	31	81	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56947293	56947293	+	Silent	SNP	C	C	T	rs149767532	byFrequency	TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:56947293C>T	ENST00000563236.1	+	26	3067	c.3042C>T	c.(3040-3042)aaC>aaT	p.N1014N	SLC12A3_ENST00000438926.2_Silent_p.N1023N|SLC12A3_ENST00000262502.5_Silent_p.N1013N|SLC12A3_ENST00000563352.1_3'UTR|SLC12A3_ENST00000566786.1_Silent_p.N1022N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	1014					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.N1023N(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACCAGGAAAACGTGCTCACCT	0.552																																						uc010ccm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(3040-3042)AAC>AAT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	C	,,	1,4395	2.1+/-5.4	0,1,2197	160.0	133.0	142.0		3069,3066,3042	-2.5	1.0	16	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,,	1023/1031,1022/1030,1014/1022	56947293	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56947293C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.3042C>T	16.37:g.56947293C>T						SLC12A3_uc002ekd.3_Silent_p.N1023N|SLC12A3_uc010ccn.2_Silent_p.N1022N	p.N1014N	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			26	3071	+			1014			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.3042C>T	CCDS58464.1																																																																																				PASS	0.552	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			48	209	48	209	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	64981585	64981585	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:64981585T>C	ENST00000268603.4	-	13	2927	c.2312A>G	c.(2311-2313)tAt>tGt	p.Y771C	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.Y645C	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	771					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y771C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTTCTGTAGATAATCATAGTC	0.453			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(2311-2313)TAT>TGT		cadherin 11, type 2 preproprotein							77.0	80.0	79.0					16																	64981585		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981585T>C	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2312A>G	16.37:g.64981585T>C	ENSP00000268603:p.Tyr771Cys	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.Y645C	p.Y771C	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2746	-		Ovarian(137;0.0973)	771			Cytoplasmic (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.2312A>G	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.513780	0.64522	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.79352	-1.26	6.04	6.04	0.98038	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.87330	0.6150	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88482	0.3069	10	0.87932	D	0	.	15.7575	0.78046	0.0:0.0:0.0:1.0	.	771	P55287	CAD11_HUMAN	C	771;754	ENSP00000268603:Y771C	ENSP00000268603:Y771C	Y	-	2	0	CDH11	63539086	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	TAT		PASS	0.453	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		62	191	62	191	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66430103	66430103	+	Splice_Site	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:66430103T>A	ENST00000341529.3	+	8	1507	c.1359T>A	c.(1357-1359)acT>acA	p.T453T	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.T453T(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)	TGGATTCCACTGGTGAGTGGC	0.453																																						uc002eom.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1357-1359)ACT>ACA		cadherin 5, type 2 preproprotein							78.0	77.0	77.0					16																	66430103		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.chr16:66430103T>A	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.1360+1T>A	16.37:g.66430103T>A							p.T453T	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	8	1515	+		Ovarian(137;0.0955)	453			Cadherin 4.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.1359T>A	CCDS10804.1																																																																																				PASS	0.453	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	Silent	33	96	33	96	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68591960	68591960	+	Silent	SNP	C	C	T	rs376978594		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:68591960C>T	ENST00000570495.1	+	3	385	c.93C>T	c.(91-93)gtC>gtT	p.V31V	ZFP90_ENST00000570884.1_3'UTR|ZFP90_ENST00000398253.2_Silent_p.V31V|ZFP90_ENST00000563169.2_Silent_p.V31V|ZFP90_ENST00000564323.1_Silent_p.V31V			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.V31V(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GGTACCATGTCGACCCTGCTC	0.478																																						uc010cff.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(91-93)GTC>GTT		zinc finger protein 90		C		0,4396		0,0,2198	142.0	141.0	141.0		93	2.4	0.1	16		141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFP90	NM_133458.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		31/637	68591960	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68591960C>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.93C>T	16.37:g.68591960C>T						ZFP90_uc002ewb.2_5'UTR|ZFP90_uc002ewc.2_5'UTR|ZFP90_uc002ewd.2_Silent_p.V31V|ZFP90_uc002ewe.2_Silent_p.V31V	p.V31V	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	3	385	+		Ovarian(137;0.192)	31			KRAB.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.93C>T	CCDS42183.1																																																																																				PASS	0.478	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		78	278	78	278	---	---	---	---
FBXO31	79791	broad.mit.edu	37	16	87367769	87367769	+	Missense_Mutation	SNP	G	G	A	rs369461567		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:87367769G>A	ENST00000311635.7	-	8	1132	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	RP11-178L8.4_ENST00000568879.1_Silent_p.C37C	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	374					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)	p.R202C(1)|p.R374C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ACCCTCTCGCGCACCTCCAGG	0.697																																						uc002fjw.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1120-1122)CGC>TGC		F-box protein 31		G	CYS/ARG	1,4395		0,1,2197	35.0	35.0	35.0		1120	3.0	0.0	16		35	0,8598		0,0,4299	no	missense	FBXO31	NM_024735.3	180	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	374/540	87367769	1,12993	2198	4299	6497	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87367769G>A	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1120C>T	16.37:g.87367769G>A	ENSP00000310841:p.Arg374Cys					FBXO31_uc010vot.1_Missense_Mutation_p.R202C|FBXO31_uc002fjv.2_Missense_Mutation_p.R266C	p.R374C	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	8	1164	-			374					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1120C>T	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047276	0.36085	2.27E-4	0.0	ENSG00000103264	ENST00000311635	T	0.67171	-0.25	5.06	3.03	0.35002	.	0.166079	0.56097	D	0.000039	T	0.65790	0.2725	L	0.51422	1.61	0.19575	N	0.999964	D;D	0.65815	0.991;0.995	B;P	0.46825	0.328;0.528	T	0.62353	-0.6872	10	0.72032	D	0.01	-15.175	15.1156	0.72397	0.0:0.4039:0.5961:0.0	.	374;266	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	C	374	ENSP00000310841:R374C	ENSP00000310841:R374C	R	-	1	0	FBXO31	85925270	1.000000	0.71417	0.001000	0.08648	0.306000	0.27790	3.784000	0.55416	0.499000	0.27970	0.561000	0.74099	CGC		PASS	0.697	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		4	105	4	105	---	---	---	---
KLHDC4	54758	broad.mit.edu	37	16	87748109	87748109	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr16:87748109C>A	ENST00000270583.5	-	8	888	c.830G>T	c.(829-831)aGa>aTa	p.R277I	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R220I|KLHDC4_ENST00000347925.5_Missense_Mutation_p.R246I|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	277								p.R277I(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCTACCTTCTCTTCCGTCCTC	0.592																																						uc002fki.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(829-831)AGA>ATA		kelch domain containing 4							227.0	185.0	199.0					16																	87748109		2198	4300	6498	SO:0001583	missense	54758							g.chr16:87748109C>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.830G>T	16.37:g.87748109C>A	ENSP00000270583:p.Arg277Ile					KLHDC4_uc010cht.1_Missense_Mutation_p.R96I|KLHDC4_uc002fkj.2_Missense_Mutation_p.R246I|KLHDC4_uc002fkk.2_Missense_Mutation_p.R96I|KLHDC4_uc002fkl.2_Missense_Mutation_p.R220I|KLHDC4_uc010chu.1_Missense_Mutation_p.R96I	p.R277I	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	8	876	-			277			Kelch 4.		D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.830G>T	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323626	0.41096	.	.	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.17054	2.3;2.3;2.3	5.06	-2.74	0.05932	Kelch-type beta propeller (1);	1.293040	0.04811	N	0.435259	T	0.22205	0.0535	L	0.44542	1.39	0.09310	N	1	P;B;B;P	0.49696	0.927;0.344;0.325;0.645	P;B;B;B	0.48952	0.596;0.236;0.108;0.381	T	0.42396	-0.9454	10	0.37606	T	0.19	-14.2464	11.9246	0.52812	0.0:0.3831:0.0:0.6169	.	96;220;246;277	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	I	277;96;246;220	ENSP00000270583:R277I;ENSP00000325717:R246I;ENSP00000262530:R220I	ENSP00000270583:R277I	R	-	2	0	KLHDC4	86305610	0.001000	0.12720	0.000000	0.03702	0.084000	0.17831	0.676000	0.25247	-0.798000	0.04444	0.555000	0.69702	AGA		PASS	0.592	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		85	249	85	249	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7574035	7574035	+	Splice_Site	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr17:7574035T>C	ENST00000269305.4	-	10	1183		c.e10-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(10)|p.0?(8)|p.I332fs*49(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)	CCCACGGATCTGCAGCAACAG	0.507		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		19	Unknown(10)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.0?(7)|p.?(6)|p.I332fs*49(1)	lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|liver(2)|stomach(1)|breast(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.e10-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							44.0	36.0	38.0					17																	7574035		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574035T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.994-2A>G	17.37:g.7574035T>C		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_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_Splice_Site|TP53_uc010cng.1_Splice_Site|TP53_uc002gii.1_Splice_Site_p.I200_splice|TP53_uc010cnh.1_Splice_Site|TP53_uc010cni.1_Splice_Site|TP53_uc002gij.2_Splice_Site_p.I332_splice	p.I332_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1188	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.994_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898270	0.33535	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1784	0.59641	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514760	1.000000	0.71417	0.937000	0.37676	0.131000	0.20780	6.590000	0.74085	2.061000	0.61500	0.459000	0.35465	.		PASS	0.507	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	13	22	13	22	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11784584	11784584	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr17:11784584C>G	ENST00000262442.4	+	55	10728	c.10660C>G	c.(10660-10662)Cac>Gac	p.H3554D	DNAH9_ENST00000454412.2_Missense_Mutation_p.H3554D|DNAH9_ENST00000608377.1_5'Flank	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3554	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.H3554D(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTCATCCTCCACACCAAGCT	0.512																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(10660-10662)CAC>GAC		dynein, axonemal, heavy chain 9 isoform 2							99.0	89.0	93.0					17																	11784584		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11784584C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10660C>G	17.37:g.11784584C>G	ENSP00000262442:p.His3554Asp					DNAH9_uc010coo.2_Missense_Mutation_p.H2848D|DNAH9_uc002gnf.2_5'Flank	p.H3554D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	55	10728	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3554			AAA 5 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.10660C>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887496	0.72410	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.23348	1.91;1.91	4.85	4.85	0.62838	.	0.102097	0.64402	D	0.000002	T	0.54695	0.1874	H	0.95504	3.68	0.80722	D	1	B	0.26902	0.163	B	0.40477	0.33	T	0.64914	-0.6295	10	0.66056	D	0.02	.	18.5196	0.90947	0.0:1.0:0.0:0.0	.	3554	Q9NYC9	DYH9_HUMAN	D	3554;3554;2136	ENSP00000262442:H3554D;ENSP00000414874:H3554D	ENSP00000262442:H3554D	H	+	1	0	DNAH9	11725309	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.562000	0.82300	2.673000	0.90976	0.655000	0.94253	CAC		PASS	0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		71	105	71	105	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	32483483	32483483	+	Silent	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr17:32483483G>T	ENST00000359872.6	-	1	830	c.69C>A	c.(67-69)acC>acA	p.T23T		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	23					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.T23T(1)								Amiloride(DB00594)	GGAGGGTGGAGGTGTTGGCAA	0.622																																						uc002hhu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(67-69)ACC>ACA		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						45.0	53.0	50.0					17																	32483483		2195	4294	6489	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483483G>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.69C>A	17.37:g.32483483G>T							p.T23T	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	343	-		Breast(31;0.042)|Ovarian(249;0.202)	23			Cytoplasmic (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.69C>A	CCDS42296.1																																																																																				PASS	0.622	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		23	63	23	63	---	---	---	---
PLEKHH3	79990	broad.mit.edu	37	17	40823051	40823051	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr17:40823051C>T	ENST00000591022.1	-	9	1769	c.1382G>A	c.(1381-1383)gGg>gAg	p.G461E	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G461E|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.G461E	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	461	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)		p.G461E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GAGGGTCCCCCCAGCCAGGGC	0.652																																						uc002iau.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1381-1383)GGG>GAG		pleckstrin homology domain containing, family H							39.0	47.0	44.0					17																	40823051		2136	4246	6382	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40823051C>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1382G>A	17.37:g.40823051C>T	ENSP00000468678:p.Gly461Glu					PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.G461E	p.G461E	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	9	1849	-		Breast(137;0.00116)	461			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.1382G>A	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205524	0.79127	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	T;T	0.73681	-0.77;-0.77	5.16	5.16	0.70880	Band 4.1 domain (1);FERM domain (1);	0.000000	0.49305	D	0.000148	T	0.60366	0.2263	L	0.27053	0.805	0.42374	D	0.992463	P;P	0.42296	0.734;0.775	B;B	0.39660	0.203;0.306	T	0.64024	-0.6504	10	0.51188	T	0.08	-18.6781	8.5246	0.33298	0.1549:0.7645:0.0:0.0806	.	461;461	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	E	123;461;461	ENSP00000293349:G461E;ENSP00000411885:G461E	ENSP00000293349:G461E	G	-	2	0	PLEKHH3	38076577	0.883000	0.30277	1.000000	0.80357	0.993000	0.82548	3.355000	0.52262	2.420000	0.82092	0.561000	0.74099	GGG		PASS	0.652	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		57	120	57	120	---	---	---	---
BRIP1	83990	broad.mit.edu	37	17	59885947	59885947	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr17:59885947C>T	ENST00000259008.2	-	7	1066	c.799G>A	c.(799-801)Gca>Aca	p.A267T	BRIP1_ENST00000577598.1_Missense_Mutation_p.A267T	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	267	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A267T(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CCTGAATATGCCGTCCTCCGG	0.443			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(799-801)GCA>ACA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							141.0	126.0	131.0					17																	59885947		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59885947C>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.799G>A	17.37:g.59885947C>T	ENSP00000259008:p.Ala267Thr						p.A267T	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			7	940	-			267			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.799G>A	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708776	0.68615	.	.	ENSG00000136492	ENST00000259008	T	0.70986	-0.53	5.29	4.26	0.50523	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.157742	0.56097	D	0.000028	T	0.73783	0.3631	L	0.55103	1.725	0.35350	D	0.787267	P	0.46859	0.885	P	0.51324	0.666	T	0.79130	-0.1930	9	.	.	.	-5.7226	15.0055	0.71510	0.1422:0.8578:0.0:0.0	.	267	Q9BX63	FANCJ_HUMAN	T	267	ENSP00000259008:A267T	.	A	-	1	0	BRIP1	57240729	0.998000	0.40836	0.996000	0.52242	0.950000	0.60333	2.080000	0.41586	2.632000	0.89209	0.579000	0.79373	GCA		PASS	0.443	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		5	299	5	299	---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61615851	61615851	+	Silent	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr17:61615851T>C	ENST00000583023.1	+	8	1793	c.1782T>C	c.(1780-1782)gcT>gcC	p.A594A	KCNH6_ENST00000581784.1_Silent_p.A541A|KCNH6_ENST00000314672.5_Silent_p.A594A|KCNH6_ENST00000456941.2_Silent_p.A541A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	594					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A594A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACTGCCCAGCTTTCAGCGGCG	0.701																																						uc002jay.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1780-1782)GCT>GCC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						10.0	10.0	10.0					17																	61615851		2193	4293	6486	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61615851T>C	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1782T>C	17.37:g.61615851T>C						KCNH6_uc010wpl.1_Silent_p.A471A|KCNH6_uc010wpm.1_Silent_p.A594A|KCNH6_uc002jaz.1_Silent_p.A541A	p.A594A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			8	1862	+			594			cNMP.|Cytoplasmic (Potential).		Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.1782T>C	CCDS11638.1																																																																																				PASS	0.701	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		4	10	4	10	---	---	---	---
OTOP2	92736	broad.mit.edu	37	17	72923807	72923807	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr17:72923807C>T	ENST00000580223.1	+	4	587	c.557C>T	c.(556-558)gCg>gTg	p.A186V	OTOP2_ENST00000331427.4_Missense_Mutation_p.A186V			Q7RTS6	OTOP2_HUMAN	otopetrin 2	186						integral component of membrane (GO:0016021)		p.A186V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGATGGCGGCCGTGGTG	0.577																																						uc010wrp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(556-558)GCG>GTG		otopetrin 2							87.0	69.0	75.0					17																	72923807		2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72923807C>T	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.557C>T	17.37:g.72923807C>T	ENSP00000463837:p.Ala186Val					OTOP2_uc002jmf.1_3'UTR	p.A186V	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			6	646	+	all_lung(278;0.172)|Lung NSC(278;0.207)		186						Missense_Mutation	SNP	ENST00000580223.1	37	c.557C>T	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165838	0.57476	.	.	ENSG00000183034	ENST00000331427	T	0.22336	1.96	5.1	5.1	0.69264	.	0.417107	0.28268	N	0.015978	T	0.26412	0.0645	L	0.46157	1.445	0.43688	D	0.996138	P	0.52463	0.953	P	0.47251	0.542	T	0.01604	-1.1314	10	0.17832	T	0.49	-9.1898	18.7118	0.91659	0.0:1.0:0.0:0.0	.	186	Q7RTS6	OTOP2_HUMAN	V	186	ENSP00000332528:A186V	ENSP00000332528:A186V	A	+	2	0	OTOP2	70435402	0.995000	0.38212	0.958000	0.39756	0.109000	0.19521	3.237000	0.51344	2.655000	0.90218	0.462000	0.41574	GCG		PASS	0.577	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		24	87	24	87	---	---	---	---
UNK	85451	broad.mit.edu	37	17	73814897	73814897	+	Splice_Site	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr17:73814897G>A	ENST00000589666.1	+	11	1656	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	UNK_ENST00000293218.3_Splice_Site_p.E592K|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	516							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E516K(1)|p.E592K(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCAGTCATAGGTAACTAGGC	0.582																																						uc002jpm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1774-1776)GAG>AAG		zinc finger CCCH-type domain containing 5							40.0	41.0	41.0					17																	73814897		1948	4138	6086	SO:0001630	splice_region_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73814897G>A	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1546+1G>A	17.37:g.73814897G>A							p.E592K	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		12	1774	+			516						Missense_Mutation	SNP	ENST00000589666.1	37	c.1774G>A	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108180	0.56291	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.66893	-0.5808	9	0.19590	T	0.45	-16.2443	19.5183	0.95174	0.0:0.0:1.0:0.0	.	516	Q9C0B0	UNK_HUMAN	K	592	.	ENSP00000293218:E592K	E	+	1	0	UNK	71326492	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	9.869000	0.99810	2.613000	0.88420	0.467000	0.42956	GAG		PASS	0.582	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419	Missense_Mutation	14	122	14	122	---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74154524	74154524	+	Nonsense_Mutation	SNP	C	C	A	rs550764967		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr17:74154524C>A	ENST00000269391.6	-	13	1495	c.1363G>T	c.(1363-1365)Gag>Tag	p.E455*	RNF157_ENST00000319945.6_Nonsense_Mutation_p.E455*	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	455	Ser-rich.						zinc ion binding (GO:0008270)	p.E1058*(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTCTCCGACTCGCTGCAGGAA	0.512																																					GBM(186;507 2120 27388 27773 52994)	uc002jqz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1363-1365)GAG>TAG		ring finger protein 157							144.0	126.0	132.0					17																	74154524		2203	4300	6503	SO:0001587	stop_gained	114804						zinc ion binding	g.chr17:74154524C>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1363G>T	17.37:g.74154524C>A	ENSP00000269391:p.Glu455*					RNF157_uc002jra.2_Nonsense_Mutation_p.E455*	p.E455*	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		13	1432	-			455			Ser-rich.		Q8NB72|Q96N56	Nonsense_Mutation	SNP	ENST00000269391.6	37	c.1363G>T	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	38	7.190158	0.98125	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	.	.	.	5.7	5.7	0.88788	.	0.097281	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-1.7198	18.8209	0.92097	0.0:1.0:0.0:0.0	.	.	.	.	X	455	.	ENSP00000269391:E455X	E	-	1	0	RNF157	71666119	1.000000	0.71417	0.564000	0.28396	0.917000	0.54804	6.052000	0.71080	2.670000	0.90874	0.655000	0.94253	GAG		PASS	0.512	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		4	411	4	411	---	---	---	---
CBX8	57332	broad.mit.edu	37	17	77768705	77768705	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr17:77768705A>G	ENST00000269385.4	-	5	1016	c.899T>C	c.(898-900)cTa>cCa	p.L300P	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	300					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.L300P(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATTGGGATCTAGGGCACCCTG	0.687																																						uc002jxd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(898-900)CTA>CCA		chromobox homolog 8							23.0	23.0	23.0					17																	77768705		2201	4299	6500	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768705A>G	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.899T>C	17.37:g.77768705A>G	ENSP00000269385:p.Leu300Pro						p.L300P	NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	992	-			300					Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.899T>C	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	a	14.03	2.413699	0.42817	.	.	ENSG00000141570	ENST00000269385;ENST00000427800	T	0.54071	0.59	4.47	4.47	0.54385	.	1.006310	0.07992	N	0.987314	T	0.58779	0.2146	L	0.29908	0.895	0.42656	D	0.99346	D	0.65815	0.995	P	0.60886	0.88	T	0.43523	-0.9386	10	0.30078	T	0.28	-11.012	12.501	0.55955	1.0:0.0:0.0:0.0	.	300	Q9HC52	CBX8_HUMAN	P	300;275	ENSP00000269385:L300P	ENSP00000269385:L300P	L	-	2	0	CBX8	75383300	0.997000	0.39634	0.989000	0.46669	0.541000	0.35023	1.876000	0.39588	2.022000	0.59522	0.450000	0.29827	CTA		PASS	0.687	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		5	24	5	24	---	---	---	---
CTAGE1	64693	broad.mit.edu	37	18	19995852	19995852	+	5'Flank	SNP	A	A	G	rs200484572		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr18:19995852A>G	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.N641N			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.N641N(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCACCTTTAAATTACCAAGAT	0.408																																						uc002ktv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1921-1923)AAT>AAC		cutaneous T-cell lymphoma-associated antigen 1							115.0	128.0	124.0					18																	19995852		2198	4299	6497	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995852A>G	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995852A>G	Exception_encountered						p.N641N	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	2027	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		641					B0YIZ3	Silent	SNP	ENST00000525417.1	37	c.1923T>C																																																																																					PASS	0.408	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		151	393	151	393	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32407610	32407610	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr18:32407610C>A	ENST00000399113.3	+	10	1064	c.1064C>A	c.(1063-1065)cCc>cAc	p.P355H	DTNA_ENST00000269192.7_Missense_Mutation_p.P34H|DTNA_ENST00000269191.6_Missense_Mutation_p.P355H|DTNA_ENST00000556414.3_Missense_Mutation_p.P34H|DTNA_ENST00000591182.1_Missense_Mutation_p.P34H|DTNA_ENST00000598334.1_Missense_Mutation_p.P352H|DTNA_ENST00000554864.3_Missense_Mutation_p.P352H|DTNA_ENST00000598142.1_Missense_Mutation_p.P355H|DTNA_ENST00000597599.1_Missense_Mutation_p.P352H|DTNA_ENST00000315456.6_Missense_Mutation_p.P355H|DTNA_ENST00000597674.1_Missense_Mutation_p.P34H|DTNA_ENST00000399097.3_Missense_Mutation_p.P34H|DTNA_ENST00000399121.5_Missense_Mutation_p.P352H|DTNA_ENST00000599844.1_Missense_Mutation_p.P34H|DTNA_ENST00000444659.1_Missense_Mutation_p.P355H|DTNA_ENST00000595022.1_Missense_Mutation_p.P352H|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Missense_Mutation_p.P34H|DTNA_ENST00000269190.7_Missense_Mutation_p.P356H|DTNA_ENST00000348997.5_Missense_Mutation_p.P352H|DTNA_ENST00000283365.9_Missense_Mutation_p.P355H|DTNA_ENST00000598774.1_Missense_Mutation_p.P355H			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	355					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.P352H(2)|p.P355H(2)|p.P356H(1)|p.P34H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CACTCTGTTCCCTCCTCAGGA	0.413																																						uc010dmn.1																			6	Substitution - Missense(6)		lung(6)		0						c.(1063-1065)CCC>CAC		dystrobrevin alpha isoform 1							147.0	136.0	140.0					18																	32407610		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32407610C>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1064C>A	18.37:g.32407610C>A	ENSP00000382064:p.Pro355His					DTNA_uc002kxu.2_Missense_Mutation_p.P355H|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.P355H|DTNA_uc002kxw.2_Missense_Mutation_p.P355H|DTNA_uc002kxx.2_Missense_Mutation_p.P352H|DTNA_uc010dmj.2_Missense_Mutation_p.P352H|DTNA_uc002kxz.2_Missense_Mutation_p.P352H|DTNA_uc002kxy.2_Missense_Mutation_p.P352H|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.P352H|DTNA_uc002kyb.3_Missense_Mutation_p.P352H|DTNA_uc010dmm.2_Missense_Mutation_p.P355H|DTNA_uc010xby.1_Missense_Mutation_p.P102H|DTNA_uc010dmo.2_Missense_Mutation_p.P34H|DTNA_uc002kyd.3_Missense_Mutation_p.P34H|DTNA_uc010xbz.1_Missense_Mutation_p.P34H|DTNA_uc010xca.1_Missense_Mutation_p.P34H|DTNA_uc002kye.2_Missense_Mutation_p.P34H	p.P355H	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			10	1065	+			355					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1064C>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642118	0.87859	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T;T	0.19105	2.31;2.19;2.19;2.17;2.19;2.23;2.19	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;P;P;P;P;D;P	0.89917	0.998;0.999;0.992;1.0;0.993;0.999;0.94;0.973;0.998;0.998;0.836;0.925;0.79;0.904;1.0;0.867	D;D;P;D;P;D;B;P;D;D;P;P;B;P;D;P	0.83275	0.973;0.978;0.711;0.996;0.873;0.978;0.428;0.724;0.946;0.959;0.497;0.512;0.339;0.634;0.996;0.54	T	0.21177	-1.0253	10	0.48119	T	0.1	-21.6932	15.8531	0.78952	0.0:1.0:0.0:0.0	.	34;34;102;34;355;355;352;355;34;352;352;363;352;355;355;355	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.;.	H	355;355;355;352;352;356;34;352;355;355;355;355;34;34;34	ENSP00000283365:P355H;ENSP00000322519:P355H;ENSP00000269190:P356H;ENSP00000336682:P352H;ENSP00000405819:P355H;ENSP00000269191:P355H;ENSP00000382064:P355H	ENSP00000269190:P356H	P	+	2	0	DTNA	30661608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.955000	0.76007	2.885000	0.99019	0.655000	0.94253	CCC		PASS	0.413	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		6	375	6	375	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43519604	43519604	+	Silent	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr18:43519604C>A	ENST00000282041.5	-	10	2095	c.2061G>T	c.(2059-2061)ctG>ctT	p.L687L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	687					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.L687L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCCTCAAAAACAGTTCATCAA	0.428																																						uc002lbm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2059-2061)CTG>CTT		hypothetical protein LOC57724							128.0	116.0	119.0					18																	43519604		1875	4116	5991	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43519604C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2061G>T	18.37:g.43519604C>A						KIAA1632_uc002lbo.1_Silent_p.L687L	p.L687L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			10	2161	-			687					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.2061G>T	CCDS11926.2																																																																																				PASS	0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		53	159	53	159	---	---	---	---
CNDP1	84735	broad.mit.edu	37	18	72228155	72228155	+	Missense_Mutation	SNP	C	C	T	rs139749526		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr18:72228155C>T	ENST00000358821.3	+	4	596	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CNDP1_ENST00000585136.1_Intron|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.T80M	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	123						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.T123M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		AGCGATCCCACGAAAGGCACC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16219	0.0		0.0	False		,,,				2504	0.0				Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)ACG>ATG		carnosinase 1 precursor		C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	123.0	120.0	121.0		368	1.1	0.0	18	dbSNP_134	121	0,8600		0,0,4300	no	missense	CNDP1	NM_032649.5	81	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	123/508	72228155	3,13003	2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228155C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.368C>T	18.37:g.72228155C>T	ENSP00000351682:p.Thr123Met					uc002llr.2_5'Flank	p.T123M	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	4	579	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	123					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.368C>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	7.031	0.560684	0.13498	6.81E-4	0.0	ENSG00000150656	ENST00000358821	T	0.15256	2.44	4.93	1.13	0.20643	.	0.808128	0.11858	N	0.522700	T	0.07007	0.0178	N	0.14661	0.345	0.09310	N	1	P	0.41910	0.764	B	0.33960	0.173	T	0.25847	-1.0120	10	0.62326	D	0.03	-4.9001	1.3168	0.02109	0.4873:0.1465:0.2353:0.131	.	123	Q96KN2	CNDP1_HUMAN	M	123	ENSP00000351682:T123M	ENSP00000351682:T123M	T	+	2	0	CNDP1	70379135	0.001000	0.12720	0.029000	0.17559	0.136000	0.21042	0.021000	0.13489	-0.040000	0.13580	-0.262000	0.10625	ACG		PASS	0.577	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		108	295	108	295	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2217885	2217885	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:2217885A>T	ENST00000398665.3	+	22	2695	c.2659A>T	c.(2659-2661)Agc>Tgc	p.S887C	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	887					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.S887C(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCTGGCCAGCGTGGTGCT	0.682																																						uc002lvb.3																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(2659-2661)AGC>TGC		DOT1-like, histone H3 methyltransferase							14.0	20.0	18.0					19																	2217885		2123	4229	6352	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2217885A>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2659A>T	19.37:g.2217885A>T	ENSP00000381657:p.Ser887Cys					DOT1L_uc002lvc.1_Missense_Mutation_p.S181C|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.S181C	p.S887C	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	22	2695	+		Hepatocellular(1079;0.137)	887					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2659A>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785275	0.90282	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.35421	1.31	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	L	0.41961	1.31	0.50813	D	0.999893	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.865	T	0.55166	-0.8183	10	0.87932	D	0	-28.5545	14.2588	0.66070	1.0:0.0:0.0:0.0	.	887;887	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	C	887	ENSP00000381657:S887C	ENSP00000221482:S887C	S	+	1	0	DOT1L	2168885	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.543000	0.90651	1.964000	0.57103	0.334000	0.21626	AGC		PASS	0.682	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		7	31	7	31	---	---	---	---
NCLN	56926	broad.mit.edu	37	19	3193290	3193290	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:3193290G>A	ENST00000246117.4	+	3	815	c.384G>A	c.(382-384)atG>atA	p.M128I	NCLN_ENST00000590671.1_Missense_Mutation_p.M54I	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	128					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.M128I(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAATTCATGGAGATCGAGC	0.632																																						uc002lxi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)ATG>ATA		nicalin precursor							89.0	73.0	79.0					19																	3193290		2203	4300	6503	SO:0001583	missense	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3193290G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.384G>A	19.37:g.3193290G>A	ENSP00000246117:p.Met128Ile					NCLN_uc002lxh.1_RNA	p.M128I	NM_020170	NP_064555	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	3	538	+		Hepatocellular(1079;0.137)	128			Lumenal (Potential).		D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	c.384G>A	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640435	0.47153	.	.	ENSG00000125912	ENST00000246117	T	0.29917	1.55	4.17	4.17	0.49024	.	0.163489	0.34245	U	0.004128	T	0.24624	0.0597	L	0.38175	1.15	0.80722	D	1	B	0.23650	0.089	B	0.18561	0.022	T	0.04635	-1.0937	10	0.23891	T	0.37	-3.191	15.0728	0.72053	0.0:0.0:1.0:0.0	.	128	Q969V3	NCLN_HUMAN	I	128	ENSP00000246117:M128I	ENSP00000246117:M128I	M	+	3	0	NCLN	3144290	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.334000	0.96470	1.878000	0.54408	0.505000	0.49811	ATG		PASS	0.632	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		26	71	26	71	---	---	---	---
FUT3	2525	broad.mit.edu	37	19	5844460	5844460	+	Missense_Mutation	SNP	G	G	C	rs574660146	byFrequency	TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:5844460G>C	ENST00000303225.6	-	3	1025	c.391C>G	c.(391-393)Cgc>Ggc	p.R131G	FUT3_ENST00000458379.2_Missense_Mutation_p.R131G|FUT3_ENST00000589918.1_Missense_Mutation_p.R131G|FUT3_ENST00000589620.1_Missense_Mutation_p.R131G|FUT3_ENST00000593144.1_5'Flank	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	131					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.R131G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CAGATCCAGCGCTGCCCCTGC	0.592																																					Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)CGC>GGC		fucosyltransferase 3							93.0	79.0	84.0					19																	5844460		2203	4300	6503	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844460G>C		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.391C>G	19.37:g.5844460G>C	ENSP00000305603:p.Arg131Gly					FUT3_uc002mdm.2_Missense_Mutation_p.R131G|FUT3_uc002mdj.2_Missense_Mutation_p.R131G|FUT3_uc002mdl.2_Missense_Mutation_p.R131G	p.R131G	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			2	488	-			131			Lumenal (Potential).		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.391C>G	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689447	0.29962	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.27557	1.66;1.66	2.24	2.24	0.28232	.	0.310966	0.27720	N	0.018123	T	0.57519	0.2059	M	0.89715	3.055	0.28358	N	0.920603	D;P;P;P	0.89917	1.0;0.763;0.763;0.763	D;P;P;P	0.83275	0.996;0.667;0.667;0.667	T	0.53450	-0.8437	10	0.39692	T	0.17	.	10.5317	0.44981	0.0:0.0:1.0:0.0	.	131;131;131;131	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	G	131	ENSP00000305603:R131G;ENSP00000416443:R131G	ENSP00000305603:R131G	R	-	1	0	FUT3	5795460	0.971000	0.33674	0.980000	0.43619	0.162000	0.22319	1.359000	0.34113	1.169000	0.42739	0.205000	0.17691	CGC		PASS	0.592	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		40	141	40	141	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8181629	8181629	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:8181629T>C	ENST00000600128.1	-	29	4055	c.3641A>G	c.(3640-3642)aAc>aGc	p.N1214S	FBN3_ENST00000270509.2_Missense_Mutation_p.N1214S|FBN3_ENST00000601739.1_Missense_Mutation_p.N1214S			Q75N90	FBN3_HUMAN	fibrillin 3	1214	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.N1214S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCTGGCATGTTGGTGCAGTG	0.622																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(3640-3642)AAC>AGC		fibrillin 3 precursor							100.0	85.0	90.0					19																	8181629		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8181629T>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3641A>G	19.37:g.8181629T>C	ENSP00000470498:p.Asn1214Ser						p.N1214S	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			28	3662	-			1214			EGF-like 17.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3641A>G	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.660048	0.47572	.	.	ENSG00000142449	ENST00000270509	D	0.98777	-5.13	3.98	3.98	0.46160	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.106741	0.64402	U	0.000008	D	0.99143	0.9704	M	0.90252	3.1	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	D	0.99312	1.0904	10	0.87932	D	0	.	12.6908	0.56974	0.0:0.0:0.0:1.0	.	1214	Q75N90	FBN3_HUMAN	S	1214	ENSP00000270509:N1214S	ENSP00000270509:N1214S	N	-	2	0	FBN3	8087629	1.000000	0.71417	0.483000	0.27378	0.020000	0.10135	7.372000	0.79612	1.682000	0.51000	0.368000	0.22195	AAC		PASS	0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		50	98	50	98	---	---	---	---
MARCH2	51257	broad.mit.edu	37	19	8503280	8503280	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:8503280C>T	ENST00000602117.1	+	5	1046	c.591C>T	c.(589-591)ttC>ttT	p.F197F	MARCH2_ENST00000381035.4_Silent_p.F127F|MARCH2_ENST00000215555.2_Silent_p.F197F|MARCH2_ENST00000393944.1_Silent_p.F197F|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	197					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F127F(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						AGGTCTCCTTCCGCTACCACT	0.637																																						uc002mjv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(589-591)TTC>TTT		membrane-associated ring finger (C3HC4) 2							54.0	55.0	55.0					19																	8503280		2203	4300	6503	SO:0001819	synonymous_variant	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8503280C>T	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.591C>T	19.37:g.8503280C>T						MARCH2_uc002mjw.2_Silent_p.F197F|MARCH2_uc002mjx.2_Silent_p.F127F	p.F197F	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN			6	1032	+			197					A6NP10|Q5H785|Q8N5A3|Q96B78	Silent	SNP	ENST00000602117.1	37	c.591C>T	CCDS12202.1																																																																																				PASS	0.637	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		4	134	4	134	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9024157	9024157	+	Missense_Mutation	SNP	G	G	T	rs373152632		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:9024157G>T	ENST00000397910.4	-	18	37318	c.37115C>A	c.(37114-37116)cCa>cAa	p.P12372Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12374					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P12372Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGGAGGATGGAGTCCCTGA	0.453																																						uc002mkp.2																			1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37114-37116)CCA>CAA		mucin 16							79.0	76.0	77.0					19																	9024157		1909	4127	6036	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9024157G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37115C>A	19.37:g.9024157G>T	ENSP00000381008:p.Pro12372Gln						p.P12372Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			18	37319	-			12374			Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37115C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.292	0.817929	0.16607	.	.	ENSG00000181143	ENST00000397910	T	0.01947	4.54	1.58	1.58	0.23477	.	.	.	.	.	T	0.08802	0.0218	M	0.73217	2.22	.	.	.	D	0.76494	0.999	D	0.78314	0.991	T	0.08513	-1.0718	8	0.87932	D	0	.	6.5626	0.22495	0.0:0.0:1.0:0.0	.	12372	B5ME49	.	Q	12372	ENSP00000381008:P12372Q	ENSP00000381008:P12372Q	P	-	2	0	MUC16	8885157	0.021000	0.18746	0.011000	0.14972	0.036000	0.12997	0.919000	0.28692	1.157000	0.42530	0.205000	0.17691	CCA		PASS	0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	55	13	55	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9056705	9056705	+	Silent	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:9056705T>A	ENST00000397910.4	-	3	30944	c.30741A>T	c.(30739-30741)ccA>ccT	p.P10247P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10249	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P10247P(1)|p.P5880P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCTGGATTCTGGGAAGGAGG	0.458																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30739-30741)CCA>CCT		mucin 16							70.0	69.0	70.0					19																	9056705		1918	4123	6041	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056705T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30741A>T	19.37:g.9056705T>A							p.P10247P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30945	-			10249			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30741A>T	CCDS54212.1																																																																																				PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		40	121	40	121	---	---	---	---
ZNF317	57693	broad.mit.edu	37	19	9272044	9272044	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:9272044A>G	ENST00000247956.6	+	7	2028	c.1723A>G	c.(1723-1725)Agc>Ggc	p.S575G	ZNF317_ENST00000360385.3_Missense_Mutation_p.S543G	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S575G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						ATCCCTCAGGAGCCACGTGAA	0.567																																						uc002mku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1723-1725)AGC>GGC		zinc finger protein 317							69.0	70.0	70.0					19																	9272044		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9272044A>G	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1723A>G	19.37:g.9272044A>G	ENSP00000247956:p.Ser575Gly					ZNF317_uc002mkv.2_Missense_Mutation_p.S434G|ZNF317_uc002mkw.2_Missense_Mutation_p.S543G|ZNF317_uc002mkx.2_Missense_Mutation_p.S490G|ZNF317_uc002mky.2_Missense_Mutation_p.S458G	p.S575G	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN			7	1998	+			575			C2H2-type 13.		Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.1723A>G	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	A	0.875	-0.730643	0.03135	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.07800	3.16;3.16	2.72	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000143	T	0.06188	0.0160	L	0.41573	1.285	0.09310	N	1	P;P	0.47253	0.892;0.635	B;B	0.41036	0.346;0.173	T	0.34625	-0.9821	10	0.22706	T	0.39	-15.4212	5.8331	0.18590	0.7241:0.2759:0.0:0.0	.	543;575	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	G	575;543	ENSP00000247956:S575G;ENSP00000353554:S543G	ENSP00000247956:S575G	S	+	1	0	ZNF317	9133044	0.000000	0.05858	0.032000	0.17829	0.136000	0.21042	-1.961000	0.01516	0.444000	0.26612	0.482000	0.46254	AGC		PASS	0.567	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		3	188	3	188	---	---	---	---
SLC44A2	57153	broad.mit.edu	37	19	10745908	10745908	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:10745908C>T	ENST00000335757.5	+	13	1501	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	SLC44A2_ENST00000407327.4_Silent_p.I373I|SLC44A2_ENST00000586078.1_Silent_p.I375I			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	375					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.I375I(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCCTCTGCATCGCCTACTGGG	0.567																																						uc002mpf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1123-1125)ATC>ATT		solute carrier family 44, member 2 isoform 1	Choline(DB00122)						177.0	133.0	148.0					19																	10745908		2203	4300	6503	SO:0001819	synonymous_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10745908C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1125C>T	19.37:g.10745908C>T						SLC44A2_uc002mpe.3_Silent_p.I373I|SLC44A2_uc002mpg.1_Silent_p.I95I|SLC44A2_uc002mph.2_5'Flank	p.I375I	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		13	1264	+			375			Helical; (Potential).		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	c.1125C>T	CCDS12245.1																																																																																				PASS	0.567	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			83	182	83	182	---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12059437	12059437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:12059437G>T	ENST00000254321.5	+	4	741	c.598G>T	c.(598-600)Gga>Tga	p.G200*	ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Nonsense_Mutation_p.G182*|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	200					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.G200*(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TAAAGTCTGTGGAAAAACCTT	0.393																																						uc002msu.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(598-600)GGA>TGA		zinc finger protein 700							82.0	86.0	85.0					19																	12059437		2203	4300	6503	SO:0001587	stop_gained	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059437G>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.598G>T	19.37:g.12059437G>T	ENSP00000254321:p.Gly200*					ZNF700_uc010xme.1_Nonsense_Mutation_p.G218*|ZNF763_uc010xmf.1_Intron	p.G200*	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	724	+			200			C2H2-type 1.		B9EGU4	Nonsense_Mutation	SNP	ENST00000254321.5	37	c.598G>T	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	18.41	3.617076	0.66672	.	.	ENSG00000196757	ENST00000254321	.	.	.	0.554	0.554	0.17241	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.8643	0.24084	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	200	.	ENSP00000254321:G200X	G	+	1	0	ZNF700	11920437	1.000000	0.71417	0.013000	0.15412	0.028000	0.11728	4.073000	0.57570	0.535000	0.28714	0.305000	0.20034	GGA		PASS	0.393	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		76	191	76	191	---	---	---	---
SUGP1	57794	broad.mit.edu	37	19	19390148	19390148	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:19390148T>A	ENST00000247001.5	-	10	1749	c.1402A>T	c.(1402-1404)Atg>Ttg	p.M468L		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	468	Gln/Met-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.M468L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGCAGCTGCATGTCCTGCATG	0.627																																						uc002nmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1402-1404)ATG>TTG		splicing factor 4							82.0	52.0	62.0					19																	19390148		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19390148T>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1402A>T	19.37:g.19390148T>A	ENSP00000247001:p.Met468Leu					SF4_uc002nmf.2_Missense_Mutation_p.M18L|SF4_uc002nmg.2_Missense_Mutation_p.M18L|SF4_uc002nmi.2_Missense_Mutation_p.M258L|SF4_uc002nmj.2_Missense_Mutation_p.M258L|SF4_uc002nme.2_Missense_Mutation_p.M18L	p.M468L	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			10	1404	-			468			Gln/Met-rich.		O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.1402A>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.900611	0.33535	.	.	ENSG00000105705	ENST00000247001	T	0.21191	2.02	5.04	5.04	0.67666	.	0.210695	0.47093	D	0.000247	T	0.11922	0.0290	N	0.24115	0.695	0.80722	D	1	B	0.27351	0.176	B	0.22753	0.041	T	0.15867	-1.0422	10	0.15952	T	0.53	.	8.3509	0.32301	0.0:0.0898:0.0:0.9102	.	468	Q8IWZ8	SUGP1_HUMAN	L	468	ENSP00000247001:M468L	ENSP00000247001:M468L	M	-	1	0	SUGP1	19251148	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.954000	0.56708	1.916000	0.55485	0.459000	0.35465	ATG		PASS	0.627	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		11	47	11	47	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20044956	20044956	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:20044956A>G	ENST00000343769.5	+	4	1220	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	398					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.K398E(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GAAGCCCTACAAATGTGAAGA	0.408																																						uc002non.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1192-1194)AAA>GAA		zinc finger protein 93							62.0	65.0	64.0					19																	20044956		2203	4300	6503	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044956A>G	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1192A>G	19.37:g.20044956A>G	ENSP00000342002:p.Lys398Glu						p.K398E	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	1303	+			398			C2H2-type 10.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.1192A>G	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	a	14.77	2.635214	0.47049	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.08370	3.1	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	N	0.16862	0.45	0.20403	N	0.999901	D	0.57571	0.98	P	0.53549	0.729	T	0.35525	-0.9785	9	0.22109	T	0.4	.	5.4501	0.16560	1.0:0.0:0.0:0.0	.	398	P35789	ZNF93_HUMAN	E	398	ENSP00000342002:K398E	ENSP00000342002:K398E	K	+	1	0	ZNF93	19905956	0.000000	0.05858	0.706000	0.30403	0.707000	0.40811	-5.113000	0.00150	0.166000	0.19597	0.164000	0.16699	AAA		PASS	0.408	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		66	134	66	134	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33639783	33639783	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:33639783G>C	ENST00000355868.3	+	5	722	c.646G>C	c.(646-648)Gcc>Ccc	p.A216P	WDR88_ENST00000361680.2_Missense_Mutation_p.A216P	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	216								p.A216P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CATAATGGACGCCGAGAACAT	0.502																																						uc002nui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(646-648)GCC>CCC		PQQ repeat and WD repeat domain containing							187.0	141.0	157.0					19																	33639783		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33639783G>C	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.646G>C	19.37:g.33639783G>C	ENSP00000348129:p.Ala216Pro						p.A216P	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			5	724	+	Esophageal squamous(110;0.137)		216			WD 3.		Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.646G>C	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604046	0.28534	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.39229	1.09;1.09	5.46	3.22	0.36961	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.327670	0.05231	N	0.510310	T	0.34745	0.0908	L	0.48218	1.51	0.21184	N	0.999765	B	0.27264	0.173	B	0.23275	0.045	T	0.26189	-1.0110	10	0.35671	T	0.21	.	3.5174	0.07730	0.0982:0.1729:0.5633:0.1655	.	216	Q6ZMY6	WDR88_HUMAN	P	216	ENSP00000348129:A216P;ENSP00000355148:A216P	ENSP00000348129:A216P	A	+	1	0	WDR88	38331623	0.130000	0.22417	0.046000	0.18839	0.002000	0.02628	1.778000	0.38614	0.689000	0.31550	0.638000	0.83543	GCC		PASS	0.502	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		76	230	76	230	---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38858205	38858205	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:38858205C>G	ENST00000409235.3	+	24	2942	c.2827C>G	c.(2827-2829)Cag>Gag	p.Q943E	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.Q903E	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	943				Q -> R (in Ref. 3; BAC87333). {ECO:0000305}.	cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.Q583E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CGGCAGTTTCCAGGGCAGGTA	0.547																																						uc002oih.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2827-2829)CAG>GAG		cation channel, sperm-associated, gamma							239.0	262.0	254.0					19																	38858205		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858205C>G	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2827C>G	19.37:g.38858205C>G	ENSP00000386962:p.Gln943Glu					CATSPERG_uc002oig.3_Missense_Mutation_p.Q903E|CATSPERG_uc002oif.3_Missense_Mutation_p.Q583E|CATSPERG_uc010efw.2_RNA	p.Q943E	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			24	2914	+			943	Q -> R (in Ref. 3; BAC87333).		Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2827C>G	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	8.460	0.855149	0.17106	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.26223	1.75;1.75	4.22	-7.66	0.01277	.	2.135900	0.03053	N	0.154881	T	0.11367	0.0277	L	0.27053	0.805	0.42390	D	0.992524	B;B	0.14012	0.009;0.001	B;B	0.11329	0.006;0.003	T	0.49952	-0.8884	10	0.02654	T	1	-4.6164	3.2194	0.06710	0.5965:0.1704:0.1234:0.1098	.	943;903	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	E	903;943;943	ENSP00000387057:Q903E;ENSP00000386962:Q943E	ENSP00000386962:Q943E	Q	+	1	0	CATSPERG	43550045	0.000000	0.05858	0.931000	0.37212	0.934000	0.57294	-2.348000	0.01094	-0.823000	0.04301	0.491000	0.48974	CAG		PASS	0.547	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		246	622	246	622	---	---	---	---
CYP2F1	1572	broad.mit.edu	37	19	41630712	41630712	+	Silent	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:41630712G>C	ENST00000331105.2	+	8	1125	c.1053G>C	c.(1051-1053)gcG>gcC	p.A351A		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	351					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.A351A(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACACAGACGCGGTGATCCACG	0.657																																						uc002opu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1051-1053)GCG>GCC		cytochrome P450, family 2, subfamily F,							32.0	28.0	30.0					19																	41630712		2203	4300	6503	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41630712G>C	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1053G>C	19.37:g.41630712G>C						CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA	p.A351A	NM_000774	NP_000765	P24903	CP2F1_HUMAN			8	1109	+			351					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1053G>C	CCDS12572.1																																																																																				PASS	0.657	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			10	28	10	28	---	---	---	---
CEACAM18	729767	broad.mit.edu	37	19	51984759	51984759	+	Silent	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:51984759T>C	ENST00000396477.4	+	3	534	c.513T>C	c.(511-513)aaT>aaC	p.N171N	CEACAM18_ENST00000451626.1_Silent_p.N232N	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	171								p.N171N(1)|p.N232N(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGTATGTGAATGATGTGCCTA	0.522																																						uc002pwv.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(694-696)AAT>AAC		carcinoembryonic antigen-related cell adhesion							92.0	88.0	89.0					19																	51984759		2074	4201	6275	SO:0001819	synonymous_variant	729767					integral to membrane		g.chr19:51984759T>C			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.513T>C	19.37:g.51984759T>C							p.N232N	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	696	+		all_neural(266;0.0529)	232					C9JN24	Silent	SNP	ENST00000396477.4	37	c.696T>C																																																																																					PASS	0.522	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			36	88	36	88	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54387495	54387495	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:54387495G>T	ENST00000263431.3	+	3	565	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	PRKCG_ENST00000540413.1_Missense_Mutation_p.D95Y|PRKCG_ENST00000536044.1_Missense_Mutation_p.D95Y|PRKCG_ENST00000542049.1_Missense_Mutation_p.G19V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	95					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.D95Y(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCCCCAGACGGACGTGAGTGC	0.582																																						uc002qcq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(283-285)GAC>TAC		protein kinase C, gamma							71.0	66.0	68.0					19																	54387495		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54387495G>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.283G>T	19.37:g.54387495G>T	ENSP00000263431:p.Asp95Tyr					PRKCG_uc010eqz.1_Missense_Mutation_p.D95Y|PRKCG_uc010yef.1_Missense_Mutation_p.D95Y|PRKCG_uc010yeg.1_Missense_Mutation_p.D95Y|PRKCG_uc010yeh.1_Missense_Mutation_p.G19V	p.D95Y	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	3	565	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		95					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.283G>T	CCDS12867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.272711|4.272711	0.80580|0.80580	.|.	.|.	ENSG00000126583|ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486|ENST00000542049	T;T;T|T	0.79554|0.70516	-1.28;-0.59;-0.59|-0.49	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|T	0.73071|0.73071	0.3540|0.3540	M|M	0.91872|0.91872	3.25|3.25	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D;D|P	0.89917|0.37466	1.0;0.997;1.0;0.991|0.596	D;D;D;P|B	0.76071|0.26517	0.987;0.947;0.971;0.864|0.07	T|T	0.79135|0.79135	-0.1928|-0.1928	9|9	0.87932|0.45353	D|T	0|0.12	.|.	15.1517|15.1517	0.72706|0.72706	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	95;95;95;95|19	F5H5C4;B7Z870;B7Z3W6;P05129|B7Z8Q0	.;.;.;KPCG_HUMAN|.	Y|V	95;95;95;118|19	ENSP00000440541:D95Y;ENSP00000443493:D95Y;ENSP00000263431:D95Y|ENSP00000438090:G19V	ENSP00000263431:D95Y|ENSP00000438090:G19V	D|G	+|+	1|2	0|0	PRKCG|PRKCG	59079307|59079307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	6.748000|6.748000	0.74877|0.74877	2.244000|2.244000	0.73946|0.73946	0.313000|0.313000	0.20887|0.20887	GAC|GGA		PASS	0.582	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		33	109	33	109	---	---	---	---
SBK2	646643	broad.mit.edu	37	19	56047510	56047510	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:56047510T>C	ENST00000413299.1	-	2	189	c.152A>G	c.(151-153)cAg>cGg	p.Q51R	SBK2_ENST00000344158.3_Missense_Mutation_p.Q51R	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	51							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q51R(2)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GACCAGGGTCTGAGCACTCAG	0.652																																						uc010ygc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(151-153)CAG>CGG		SH3-binding domain kinase family, member 2							32.0	35.0	34.0					19																	56047510		2120	4229	6349	SO:0001583	missense	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56047510T>C		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.152A>G	19.37:g.56047510T>C	ENSP00000389015:p.Gln51Arg						p.Q51R	NM_001101401	NP_001094871	P0C263	SBK2_HUMAN			1	152	-			51						Missense_Mutation	SNP	ENST00000413299.1	37	c.152A>G	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434021	0.25813	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.70516	-0.49;-0.49	4.31	4.31	0.51392	Protein kinase-like domain (1);	0.065439	0.64402	D	0.000007	T	0.54951	0.1890	L	0.27053	0.805	0.36313	D	0.857785	B	0.33212	0.402	B	0.30716	0.119	T	0.61633	-0.7023	10	0.30854	T	0.27	-30.7596	11.7186	0.51668	0.0:0.0:0.0:1.0	.	51	P0C263	SBK2_HUMAN	R	51	ENSP00000389015:Q51R;ENSP00000345044:Q51R	ENSP00000345044:Q51R	Q	-	2	0	SBK2	60739322	1.000000	0.71417	0.998000	0.56505	0.481000	0.33189	2.060000	0.41394	1.728000	0.51552	0.260000	0.18958	CAG		PASS	0.652	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		24	31	24	31	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56382266	56382266	+	Missense_Mutation	SNP	C	C	G	rs143466082		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:56382266C>G	ENST00000301295.6	+	7	2850	c.2428C>G	c.(2428-2430)Cgc>Ggc	p.R810G	NLRP4_ENST00000587891.1_Missense_Mutation_p.R735G|NLRP4_ENST00000346986.5_Missense_Mutation_p.R754G	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	810					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R810G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAAGAGCGTGCGCTATCTAGA	0.517																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2428-2430)CGC>GGC		NLR family, pyrin domain containing 4							170.0	143.0	152.0					19																	56382266		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56382266C>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2428C>G	19.37:g.56382266C>G	ENSP00000301295:p.Arg810Gly					NLRP4_uc002qmf.2_Missense_Mutation_p.R735G|NLRP4_uc010etf.2_Missense_Mutation_p.R585G	p.R810G	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	2850	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	810			LRR 5.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2428C>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	3.155	-0.173381	0.06421	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.55588	0.51;2.52	3.75	-7.51	0.01346	.	.	.	.	.	T	0.48750	0.1517	M	0.91972	3.26	0.09310	N	1	B;B;B	0.27679	0.185;0.052;0.064	B;B;B	0.26202	0.067;0.031;0.037	T	0.42207	-0.9465	9	0.45353	T	0.12	.	0.1443	0.00087	0.2242:0.2598:0.2194:0.2966	.	754;735;810	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	G	810;754	ENSP00000301295:R810G;ENSP00000344787:R754G	ENSP00000301295:R810G	R	+	1	0	NLRP4	61074078	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.211000	0.02997	-2.662000	0.00418	-0.781000	0.03364	CGC		PASS	0.517	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		51	158	51	158	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57176503	57176503	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:57176503C>T	ENST00000537055.2	-	2	295	c.64G>A	c.(64-66)Ggc>Agc	p.G22S		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G44S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCAACCTGGCCCTCGTGTTTC	0.602																																						uc010ygo.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(1)	4						c.(130-132)GGC>AGC		zinc finger protein 835							75.0	78.0	77.0					19																	57176503		1993	4155	6148	SO:0001583	missense	90485							g.chr19:57176503C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.64G>A	19.37:g.57176503C>T	ENSP00000444747:p.Gly22Ser					ZNF835_uc010ygn.1_Missense_Mutation_p.G22S	p.G44S	NM_001005850	NP_001005850					2	130	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.130G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262097	0.39995	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.05996	3.36	2.82	1.76	0.24704	.	.	.	.	.	T	0.06600	0.0169	L	0.27053	0.805	0.09310	N	1	D	0.59357	0.985	P	0.50537	0.643	T	0.38023	-0.9680	9	0.25106	T	0.35	.	5.7698	0.18247	0.0:0.8437:0.0:0.1563	.	44	Q9Y2P0	ZN835_HUMAN	S	44;22	ENSP00000444747:G22S	ENSP00000341756:G44S	G	-	1	0	ZNF835	61868315	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.161000	0.16481	0.529000	0.28599	-0.258000	0.10820	GGC		PASS	0.602	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		42	107	42	107	---	---	---	---
ZNF304	57343	broad.mit.edu	37	19	57867632	57867632	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr19:57867632T>G	ENST00000282286.5	+	3	568	c.395T>G	c.(394-396)tTt>tGt	p.F132C	ZNF304_ENST00000391705.3_Missense_Mutation_p.F132C|ZNF304_ENST00000598744.1_Missense_Mutation_p.F90C|ZNF304_ENST00000443917.2_Missense_Mutation_p.F179C			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F132C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGTGCAAACTTTTACCAGCAC	0.478																																						uc010ygw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(394-396)TTT>TGT		zinc finger protein 304							70.0	67.0	68.0					19																	57867632		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867632T>G	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.395T>G	19.37:g.57867632T>G	ENSP00000282286:p.Phe132Cys					ZNF304_uc010etw.2_Missense_Mutation_p.F179C|ZNF304_uc010etx.2_Missense_Mutation_p.F90C	p.F132C	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	783	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	132			C2H2-type 2.			Missense_Mutation	SNP	ENST00000282286.5	37	c.395T>G	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	t	13.91	2.378474	0.42207	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.29397	2.39;2.39;1.57	3.2	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.45155	0.1328	M	0.67700	2.07	0.09310	N	1	D;D	0.76494	0.997;0.999	D;P	0.63113	0.911;0.862	T	0.23368	-1.0190	9	0.87932	D	0	.	5.8563	0.18722	0.0:0.2395:0.0:0.7605	.	132;179	Q9HCX3;E7EQD3	ZN304_HUMAN;.	C	132;132;179	ENSP00000282286:F132C;ENSP00000375586:F132C;ENSP00000401642:F179C	ENSP00000282286:F132C	F	+	2	0	ZNF304	62559444	0.005000	0.15991	0.000000	0.03702	0.043000	0.13939	0.199000	0.17237	0.177000	0.19895	0.379000	0.24179	TTT		PASS	0.478	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			30	91	30	91	---	---	---	---
C20orf96	140680	broad.mit.edu	37	20	258973	258973	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr20:258973C>A	ENST00000360321.2	-	6	701	c.563G>T	c.(562-564)aGc>aTc	p.S188I	C20orf96_ENST00000382369.5_Missense_Mutation_p.S153I|C20orf96_ENST00000400269.3_Missense_Mutation_p.S130I	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	188								p.S188I(1)		endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			ATTCTTACAGCTCATCTTGCA	0.488																																						uc002wde.1																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)AGC>ATC		hypothetical protein LOC140680							224.0	238.0	233.0					20																	258973		2203	4300	6503	SO:0001583	missense	140680							g.chr20:258973C>A	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.563G>T	20.37:g.258973C>A	ENSP00000353470:p.Ser188Ile					C20orf96_uc002wdc.2_Missense_Mutation_p.S135I|C20orf96_uc002wdd.2_Missense_Mutation_p.S153I|C20orf96_uc010zpi.1_Missense_Mutation_p.S135I|C20orf96_uc010zpj.1_Missense_Mutation_p.S153I|C20orf96_uc010zpk.1_Missense_Mutation_p.S126I	p.S188I	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		6	702	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	188			Potential.		A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	ENST00000360321.2	37	c.563G>T	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523838	0.44866	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.47177	0.85;0.85;0.85	3.88	-4.17	0.03857	.	1.623270	0.03319	N	0.191639	T	0.45094	0.1325	L	0.29908	0.895	0.09310	N	1	D;D;P;D	0.61080	0.967;0.989;0.911;0.967	P;P;P;P	0.52066	0.6;0.689;0.461;0.6	T	0.50303	-0.8844	10	0.35671	T	0.21	0.8558	10.3017	0.43656	0.0:0.6544:0.0:0.3456	.	130;153;188;153	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	I	153;188;130	ENSP00000371806:S153I;ENSP00000353470:S188I;ENSP00000383128:S130I	ENSP00000353470:S188I	S	-	2	0	C20orf96	206973	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-1.052000	0.03503	-0.939000	0.03709	-0.391000	0.06502	AGC		PASS	0.488	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		95	621	95	621	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	278756	278756	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr20:278756G>C	ENST00000382352.3	+	1	1020	c.529G>C	c.(529-531)Ggc>Cgc	p.G177R		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	177							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G177R(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGGAGACGAGGGCGCCTGCCC	0.711																																						uc002wdf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)GGC>CGC		zinc finger, CCHC domain containing 3							9.0	10.0	9.0					20																	278756		1818	4046	5864	SO:0001583	missense	85364						nucleic acid binding|zinc ion binding	g.chr20:278756G>C	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.529G>C	20.37:g.278756G>C	ENSP00000371789:p.Gly177Arg					ZCCHC3_uc002wdg.2_Intron	p.G176R	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		2	550	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	177					Q3B7J3|Q6NT79	Missense_Mutation	SNP	ENST00000382352.3	37	c.526G>C	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255131	0.22965	.	.	ENSG00000177764	ENST00000382352	.	.	.	4.84	-1.78	0.07957	.	0.827753	0.10448	N	0.673455	T	0.16599	0.0399	N	0.14661	0.345	0.26876	N	0.967637	B	0.34015	0.435	B	0.27796	0.083	T	0.15925	-1.0420	9	0.87932	D	0	-12.4851	4.8633	0.13594	0.4524:0.0:0.4024:0.1452	.	177	Q9NUD5	ZCHC3_HUMAN	R	177	.	ENSP00000371789:G177R	G	+	1	0	ZCCHC3	226756	0.991000	0.36638	0.980000	0.43619	0.197000	0.23852	0.198000	0.17217	-0.132000	0.11557	0.305000	0.20034	GGC		PASS	0.711	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			4	24	4	24	---	---	---	---
MACROD2	140733	broad.mit.edu	37	20	15967727	15967727	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr20:15967727A>T	ENST00000310348.4	+	15	1077	c.1077A>T	c.(1075-1077)caA>caT	p.Q359H	MACROD2_ENST00000402914.1_Missense_Mutation_p.Q124H|MACROD2_ENST00000378058.3_Missense_Mutation_p.Q124H|MACROD2_ENST00000407045.3_Missense_Mutation_p.Q10H|MACROD2_ENST00000217246.4_Missense_Mutation_p.Q359H			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	359	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.Q124H(1)|p.Q359H(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CATCAAACCAAGAAGATGCCG	0.383																																						uc002wou.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1075-1077)CAA>CAT		MACRO domain containing 2 isoform 1							152.0	146.0	148.0					20																	15967727		2203	4300	6503	SO:0001583	missense	140733							g.chr20:15967727A>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1077A>T	20.37:g.15967727A>T	ENSP00000309809:p.Gln359His					MACROD2_uc002wot.2_Missense_Mutation_p.Q359H|MACROD2_uc002woz.2_Missense_Mutation_p.Q124H|MACROD2_uc002wpb.2_Missense_Mutation_p.Q124H|MACROD2_uc002wpd.2_Missense_Mutation_p.Q10H	p.Q359H	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			15	1341	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	359			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.1077A>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	13.20	2.167521	0.38315	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.60548	1.52;1.53;0.18;0.18	5.68	2.1	0.27182	.	0.425571	0.20317	N	0.094706	T	0.47893	0.1470	L	0.59436	1.845	0.26971	N	0.965597	B;B;B	0.24368	0.102;0.005;0.009	B;B;B	0.24155	0.051;0.005;0.011	T	0.48525	-0.9028	10	0.72032	D	0.01	-3.4815	4.084	0.09939	0.6224:0.0:0.2319:0.1457	.	10;359;359	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	H	359;359;124;124;10	ENSP00000217246:Q359H;ENSP00000309809:Q359H;ENSP00000385290:Q124H;ENSP00000367297:Q124H	ENSP00000217246:Q359H	Q	+	3	2	MACROD2	15915727	0.997000	0.39634	1.000000	0.80357	0.499000	0.33736	0.711000	0.25764	0.416000	0.25844	-0.468000	0.05107	CAA		PASS	0.383	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		49	242	49	242	---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18511331	18511331	+	Missense_Mutation	SNP	A	A	G	rs17849992		TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr20:18511331A>G	ENST00000336714.3	+	10	1549	c.1117A>G	c.(1117-1119)Atg>Gtg	p.M373V	SEC23B_ENST00000377475.3_Missense_Mutation_p.M373V|SEC23B_ENST00000377465.1_Missense_Mutation_p.M373V|SEC23B_ENST00000262544.2_Missense_Mutation_p.M373V	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	373			M -> V (in dbSNP:rs17849992). {ECO:0000269|PubMed:15489334}.		ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.M373V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TAGAGGCTACATGGTAATGGG	0.333																																						uc002wqz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)ATG>GTG		Sec23 homolog B							89.0	88.0	88.0					20																	18511331		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18511331A>G	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1117A>G	20.37:g.18511331A>G	ENSP00000338844:p.Met373Val					SEC23B_uc002wra.1_Missense_Mutation_p.M373V|SEC23B_uc002wrb.1_Missense_Mutation_p.M373V|SEC23B_uc010zsb.1_Missense_Mutation_p.M355V|SEC23B_uc002wrc.1_Missense_Mutation_p.M373V	p.M373V	NM_006363	NP_006354	Q15437	SC23B_HUMAN			10	1560	+			373					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1117A>G	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	A	8.502	0.864443	0.17250	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.3	5.3	0.74995	Sec23/Sec24, trunk domain (1);	0.045923	0.85682	D	0.000000	T	0.54532	0.1864	N	0.20845	0.615	0.58432	D	0.999999	B;B	0.12013	0.005;0.0	B;B	0.12837	0.008;0.004	T	0.50866	-0.8777	10	0.13470	T	0.59	-27.0513	14.5888	0.68347	1.0:0.0:0.0:0.0	rs17849992	355;373	B4DJW8;Q15437	.;SC23B_HUMAN	V	373	ENSP00000338844:M373V;ENSP00000262544:M373V;ENSP00000366695:M373V;ENSP00000366685:M373V	ENSP00000262544:M373V	M	+	1	0	SEC23B	18459331	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.284000	0.78650	2.235000	0.73313	0.533000	0.62120	ATG		PASS	0.333	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			62	246	62	246	---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21492667	21492667	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr20:21492667G>T	ENST00000377142.4	-	2	1072	c.716C>A	c.(715-717)gCg>gAg	p.A239E	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	239					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A239E(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CAGCGACTGCGCGCTGTAGGC	0.652																																						uc002wsi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(715-717)GCG>GAG		NK2 transcription factor related, locus 2							42.0	45.0	44.0					20																	21492667		2203	4300	6503	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492667G>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.716C>A	20.37:g.21492667G>T	ENSP00000366347:p.Ala239Glu						p.A239E	NM_002509	NP_002500	O95096	NKX22_HUMAN			2	1073	-			239						Missense_Mutation	SNP	ENST00000377142.4	37	c.716C>A	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180231	0.78677	.	.	ENSG00000125820	ENST00000377142	D	0.91011	-2.77	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	L	0.32530	0.975	0.54753	D	0.999985	D	0.58268	0.982	P	0.51615	0.675	D	0.88606	0.3153	10	0.31617	T	0.26	.	19.4854	0.95027	0.0:0.0:1.0:0.0	.	239	O95096	NKX22_HUMAN	E	239	ENSP00000366347:A239E	ENSP00000366347:A239E	A	-	2	0	NKX2-2	21440667	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.371000	0.66150	2.596000	0.87737	0.462000	0.41574	GCG		PASS	0.652	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			32	126	32	126	---	---	---	---
GGT7	2686	broad.mit.edu	37	20	33447370	33447370	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr20:33447370C>T	ENST00000336431.5	-	7	934	c.890G>A	c.(889-891)cGc>cAc	p.R297H		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	297					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.R297H(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TAGTGGCGGGCGGCCCGATGG	0.687																																						uc002xay.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(889-891)CGC>CAC		gamma-glutamyltransferase 7							28.0	21.0	23.0					20																	33447370		2197	4296	6493	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33447370C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.890G>A	20.37:g.33447370C>T	ENSP00000338964:p.Arg297His					GGT7_uc002xaz.1_Missense_Mutation_p.R314H|GGT7_uc002xba.1_3'UTR	p.R297H	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			7	933	-			297			Extracellular (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.890G>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220322	0.39201	.	.	ENSG00000131067	ENST00000336431	T	0.07567	3.18	5.84	-4.23	0.03789	.	0.970036	0.08591	N	0.922994	T	0.07593	0.0191	L	0.55103	1.725	0.23156	N	0.998202	B;B	0.14012	0.003;0.009	B;B	0.12837	0.008;0.005	T	0.43458	-0.9390	10	0.18710	T	0.47	-12.5772	8.1216	0.30974	0.0:0.3438:0.1049:0.5513	.	297;297	A4FU32;Q9UJ14	.;GGT7_HUMAN	H	297	ENSP00000338964:R297H	ENSP00000338964:R297H	R	-	2	0	GGT7	32911031	1.000000	0.71417	0.938000	0.37757	0.882000	0.50991	0.455000	0.21843	-0.843000	0.04189	0.561000	0.74099	CGC		PASS	0.687	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		5	12	5	12	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37580780	37580780	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr20:37580780A>G	ENST00000217429.4	+	4	1506	c.1465A>G	c.(1465-1467)Aca>Gca	p.T489A		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	459	Ser-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T489A(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AACTCAATCTACAGAAGGGTC	0.483																																						uc002xjg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1465-1467)ACA>GCA		hypothetical protein LOC81610							113.0	110.0	111.0					20																	37580780		1996	4163	6159	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580780A>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1465A>G	20.37:g.37580780A>G	ENSP00000217429:p.Thr489Ala						p.T489A	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			4	1506	+		Myeloproliferative disorder(115;0.00878)	459			Ser-rich.		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1465A>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	A	1.663	-0.511083	0.04231	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.10860	2.83	5.49	2.03	0.26663	.	0.300878	0.28409	N	0.015450	T	0.03220	0.0094	N	0.02539	-0.55	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.45220	-0.9276	10	0.12766	T	0.61	.	5.6849	0.17797	0.6615:0.1304:0.2081:0.0	.	459	Q9H4H8	FA83D_HUMAN	A	489;443	ENSP00000217429:T489A	ENSP00000217429:T489A	T	+	1	0	FAM83D	37014194	0.247000	0.23920	0.833000	0.33012	0.012000	0.07955	1.020000	0.30027	0.128000	0.18479	-1.070000	0.02257	ACA		PASS	0.483	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			63	169	63	169	---	---	---	---
SNX21	90203	broad.mit.edu	37	20	44463643	44463643	+	Missense_Mutation	SNP	C	C	T	rs141041804	byFrequency	TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr20:44463643C>T	ENST00000491381.1	+	3	403	c.335C>T	c.(334-336)gCg>gTg	p.A112V	SNX21_ENST00000462307.1_Missense_Mutation_p.A112V|SNX21_ENST00000372542.1_Missense_Mutation_p.A103V|SNX21_ENST00000344780.4_3'UTR|TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000372541.1_Missense_Mutation_p.A103V|SNX21_ENST00000342644.5_Missense_Mutation_p.A112V			Q969T3	SNX21_HUMAN	sorting nexin family member 21	112					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.A112V(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CAGCTCCTGGCGCGGCAGCTG	0.617																																						uc002xpv.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(334-336)GCG>GTG		sorting nexin 21 isoform a							84.0	83.0	83.0					20																	44463643		2203	4300	6503	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44463643C>T	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.335C>T	20.37:g.44463643C>T	ENSP00000418593:p.Ala112Val					SNX21_uc002xps.1_Missense_Mutation_p.A112V|SNX21_uc002xpt.1_Missense_Mutation_p.A112V|SNX21_uc002xpu.1_Missense_Mutation_p.A112V|SNX21_uc002xpw.1_5'UTR|SNX21_uc002xpx.2_Missense_Mutation_p.A102V|SNX21_uc010zxd.1_Missense_Mutation_p.A103V|SNX21_uc002xpy.1_5'UTR	p.A112V	NM_033421	NP_219489	Q969T3	SNX21_HUMAN			3	424	+		Myeloproliferative disorder(115;0.0122)	112					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.335C>T	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215308	0.58452	.	.	ENSG00000124104	ENST00000462307;ENST00000491381;ENST00000342644;ENST00000372542;ENST00000372541;ENST00000372545	T;T;T	0.46451	0.88;0.87;0.88	5.25	5.25	0.73442	.	0.509927	0.20444	N	0.092225	T	0.28101	0.0693	N	0.08118	0	0.33848	D	0.632244	P;B;B;P;D;P	0.62365	0.519;0.396;0.066;0.519;0.991;0.685	B;B;B;B;B;B	0.42995	0.084;0.038;0.015;0.084;0.404;0.119	T	0.46596	-0.9180	10	0.72032	D	0.01	-0.0084	16.168	0.81785	0.0:1.0:0.0:0.0	.	103;103;112;112;112;112	Q5JZH4;Q5JZH3;Q969T3;Q5JZH7;Q05DJ0;Q5JZH5	.;.;SNX21_HUMAN;.;.;.	V	112;112;112;103;103;103	ENSP00000418593:A112V;ENSP00000344586:A112V;ENSP00000361620:A103V	ENSP00000344586:A112V	A	+	2	0	SNX21	43897050	0.996000	0.38824	0.172000	0.22920	0.373000	0.29922	5.717000	0.68446	2.724000	0.93272	0.563000	0.77884	GCG		PASS	0.617	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		5	255	5	255	---	---	---	---
ZGPAT	84619	broad.mit.edu	37	20	62339934	62339934	+	Start_Codon_SNP	SNP	T	T	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr20:62339934T>A	ENST00000328969.5	+	2	129	c.2T>A	c.(1-3)aTg>aAg	p.M1K	ARFRP1_ENST00000359715.5_5'Flank|ZGPAT_ENST00000357119.4_Start_Codon_SNP_p.M1K|ZGPAT_ENST00000369967.3_Start_Codon_SNP_p.M1K|ZGPAT_ENST00000448100.2_Start_Codon_SNP_p.M1K|ZGPAT_ENST00000355969.6_Start_Codon_SNP_p.M1K|ARFRP1_ENST00000609142.1_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000324228.2_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	1					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M1K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TCTCTCAGCATGGACGAGGAG	0.687																																						uc002ygk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>AAG		zinc finger, CCCH-type with G patch domain							17.0	19.0	18.0					20																	62339934		2175	4267	6442	SO:0001582	initiator_codon_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62339934T>A	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.2T>A	20.37:g.62339934T>A	ENSP00000332013:p.Met1Lys					ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.M1K|ZGPAT_uc002ygj.2_Missense_Mutation_p.M1K|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.M1K|ZGPAT_uc002ygm.2_Missense_Mutation_p.M1K|ZGPAT_uc002ygn.3_RNA	p.M1K	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			2	180	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		1					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.2T>A	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181823	0.78677	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000431125;ENST00000369967;ENST00000328969	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.80686	-0.1272	9	0.87932	D	0	0.3187	11.9718	0.53067	0.0:0.0:0.0:1.0	.	1;1;1	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	K	1	ENSP00000391176:M1K;ENSP00000348242:M1K;ENSP00000349634:M1K;ENSP00000403966:M1K;ENSP00000358984:M1K;ENSP00000332013:M1K	ENSP00000332013:M1K	M	+	2	0	ZGPAT	61810378	1.000000	0.71417	0.943000	0.38184	0.491000	0.33493	7.094000	0.76944	1.572000	0.49736	0.459000	0.35465	ATG		PASS	0.687	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484	Missense_Mutation	22	63	22	63	---	---	---	---
ZGPAT	84619	broad.mit.edu	37	20	62339951	62339951	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr20:62339951G>A	ENST00000328969.5	+	2	146	c.19G>A	c.(19-21)Gag>Aag	p.E7K	ARFRP1_ENST00000359715.5_5'Flank|ZGPAT_ENST00000357119.4_Missense_Mutation_p.E7K|ZGPAT_ENST00000369967.3_Missense_Mutation_p.E7K|ZGPAT_ENST00000448100.2_Missense_Mutation_p.E7K|ZGPAT_ENST00000355969.6_Missense_Mutation_p.E7K|ARFRP1_ENST00000609142.1_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000324228.2_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	7					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E7K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GGAGAGCCTGGAGTCGGCCTT	0.677																																						uc002ygk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)GAG>AAG		zinc finger, CCCH-type with G patch domain							20.0	23.0	22.0					20																	62339951		2190	4284	6474	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62339951G>A	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.19G>A	20.37:g.62339951G>A	ENSP00000332013:p.Glu7Lys					ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.E7K|ZGPAT_uc002ygj.2_Missense_Mutation_p.E7K|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.E7K|ZGPAT_uc002ygm.2_Missense_Mutation_p.E7K|ZGPAT_uc002ygn.3_RNA	p.E7K	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			2	197	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		7					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.19G>A	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498252	0.44455	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000431125;ENST00000369967;ENST00000328969	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	4.27	3.31	0.37934	.	0.055751	0.64402	D	0.000001	T	0.33030	0.0849	L	0.39326	1.205	0.46356	D	0.999002	P;B;P	0.43477	0.808;0.154;0.808	P;B;P	0.44811	0.461;0.062;0.461	T	0.02721	-1.1119	10	0.25106	T	0.35	-0.3699	12.8255	0.57716	0.0:0.2162:0.7838:0.0	.	7;7;7	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	K	7	ENSP00000391176:E7K;ENSP00000348242:E7K;ENSP00000349634:E7K;ENSP00000403966:E7K;ENSP00000358984:E7K;ENSP00000332013:E7K	ENSP00000332013:E7K	E	+	1	0	ZGPAT	61810395	1.000000	0.71417	0.980000	0.43619	0.577000	0.36160	4.188000	0.58351	0.783000	0.33636	0.561000	0.74099	GAG		PASS	0.677	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		24	70	24	70	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10970050	10970050	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr21:10970050A>T	ENST00000361285.4	-	6	407	c.78T>A	c.(76-78)agT>agA	p.S26R	TPTE_ENST00000298232.7_Missense_Mutation_p.S26R|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S26R	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	26					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S26R(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTTAAATTCACTTGTCTGTG	0.383																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(76-78)AGT>AGA		transmembrane phosphatase with tensin homology							200.0	191.0	194.0					21																	10970050		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10970050A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.78T>A	21.37:g.10970050A>T	ENSP00000355208:p.Ser26Arg					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S26R|TPTE_uc002yir.1_Missense_Mutation_p.S26R|TPTE_uc010gkv.1_Intron	p.S26R	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	446	-			26					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.78T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	A	5.172	0.217228	0.09810	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.95622	-3.76;-3.52;-3.54	0.725	-0.617	0.11579	.	.	.	.	.	D	0.90116	0.6912	N	0.08118	0	0.09310	N	1	B;D;B	0.59767	0.231;0.986;0.056	B;P;B	0.56865	0.053;0.808;0.025	T	0.82916	-0.0220	9	0.23302	T	0.38	.	2.9312	0.05800	0.6736:0.0:0.3264:0.0	.	26;26;26	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	R	26	ENSP00000298232:S26R;ENSP00000355208:S26R;ENSP00000344441:S26R	ENSP00000298232:S26R	S	-	3	2	TPTE	9991921	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.032000	0.13732	-0.213000	0.10094	-1.211000	0.01629	AGT		PASS	0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			90	133	90	133	---	---	---	---
AIRE	326	broad.mit.edu	37	21	45713059	45713059	+	Splice_Site	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr21:45713059G>T	ENST00000291582.5	+	10	1405		c.e10+1		AIRE_ENST00000329347.4_Splice_Site|AIRE_ENST00000355347.4_Splice_Site	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator						humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGGTCAGCAGGTGAGCGGGGA	0.667									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													uc002zei.2																			2	Unknown(2)		lung(2)	skin(1)	1						c.e10+1		autoimmune regulator isoform 1							10.0	12.0	12.0					21																	45713059		2157	4257	6414	SO:0001630	splice_region_variant	326	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45713059G>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1278+1G>T	21.37:g.45713059G>T						AIRE_uc010gpq.2_Splice_Site|AIRE_uc002zej.2_Splice_Site_p.Q229_splice|AIRE_uc010gpr.2_Splice_Site_p.Q229_splice	p.Q426_splice	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	10	1405	+								B2RP50|O43922|O43932|O75745	Splice_Site	SNP	ENST00000291582.5	37	c.1278_splice	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924972	0.34002	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	.	.	.	4.95	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6124	0.39670	0.1021:0.0:0.8979:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIRE	44537487	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	2.064000	0.41432	2.300000	0.77407	0.542000	0.68232	.		PASS	0.667	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2		Intron	3	7	3	7	---	---	---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31851891	31851891	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr22:31851891C>A	ENST00000397525.1	-	8	1269	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S186I|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S349I|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S349I|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S28I|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	349						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.S349I(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTGGATCGGCTTCCTGATCT	0.468											OREG0003517	type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003akz.1																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(1045-1047)AGC>ATC		eukaryotic translation initiation factor 4E							106.0	98.0	101.0					22																	31851891		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31851891C>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1046G>T	22.37:g.31851891C>A	ENSP00000380659:p.Ser349Ile		OREG0003517	type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	828	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.S28I|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.S28I|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.S349I|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.S186I	p.S349I	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			8	1210	-			349					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1046G>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056340	0.76074	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.986;0.999	D;D;P;D	0.87578	0.987;0.987;0.769;0.998	T	0.75687	-0.3231	9	0.49607	T	0.09	-12.3858	17.2344	0.86994	0.0:1.0:0.0:0.0	.	186;349;186;349	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	I	186;349;349;349;28;349	.	ENSP00000328103:S349I	S	-	2	0	EIF4ENIF1	30181891	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.206000	0.77891	2.736000	0.93811	0.655000	0.94253	AGC		PASS	0.468	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		135	134	135	134	---	---	---	---
RFPL2	10739	broad.mit.edu	37	22	32587176	32587176	+	Silent	SNP	G	G	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr22:32587176G>A	ENST00000400237.1	-	5	1655	c.720C>T	c.(718-720)cgC>cgT	p.R240R	RFPL2_ENST00000400236.3_Silent_p.R150R|RFPL2_ENST00000248983.4_Silent_p.R150R|RFPL2_ENST00000248980.4_Silent_p.R179R|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	240	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.R179R(1)|p.R150R(1)|p.R240R(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CCCAGCAGTGGCGGCCACAGG	0.592																																						uc003amg.3																			3	Substitution - coding silent(3)		lung(3)	skin(1)	1						c.(718-720)CGC>CGT		ret finger protein-like 2 isoform 2							103.0	98.0	99.0					22																	32587176		2203	4300	6503	SO:0001819	synonymous_variant	10739						zinc ion binding	g.chr22:32587176G>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.720C>T	22.37:g.32587176G>A						RFPL2_uc003ame.3_Silent_p.R179R|RFPL2_uc003amf.3_Silent_p.R150R|RFPL2_uc003amh.3_Silent_p.R150R	p.R240R	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			5	1656	-			240			B30.2/SPRY.			Silent	SNP	ENST00000400237.1	37	c.720C>T	CCDS43009.2																																																																																				PASS	0.592	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		146	138	146	138	---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1522275	1522275	+	Silent	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chrX:1522275G>T	ENST00000381317.3	-	13	1785	c.1753C>A	c.(1753-1755)Cgg>Agg	p.R585R	ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000416733.2_Silent_p.R509R|ASMTL_ENST00000381333.4_Silent_p.R569R|ASMTL_ENST00000534940.1_Silent_p.R527R	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	585	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)	p.R585R(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCAGGCTCCGCTCCTTGCCT	0.627																																						uc004cpx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1753-1755)CGG>AGG		acetylserotonin O-methyltransferase-like							86.0	97.0	93.0					X																	1522275		2115	4226	6341	SO:0001819	synonymous_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1522275G>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1753C>A	X.37:g.1522275G>T						NCRNA00105_uc004cpv.2_Intron|NCRNA00105_uc004cpw.2_Intron|ASMTL_uc011mhe.1_Silent_p.R509R|ASMTL_uc004cpy.1_Silent_p.R569R|ASMTL_uc011mhf.1_Silent_p.R527R	p.R585R	NM_004192	NP_004183	O95671	ASML_HUMAN			13	1864	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	585			ASMT-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	c.1753C>A	CCDS43917.1																																																																																				PASS	0.627	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		54	118	54	118	---	---	---	---
SH3KBP1	30011	broad.mit.edu	37	X	19564056	19564056	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chrX:19564056G>C	ENST00000397821.3	-	15	1897	c.1607C>G	c.(1606-1608)aCt>aGt	p.T536S	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.T499S|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.T298S|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.T275S	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	536					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T536S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TATGGTAACAGTCTTGGAAGT	0.473																																						uc004czm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1606-1608)ACT>AGT		SH3-domain kinase binding protein 1 isoform a							217.0	152.0	174.0					X																	19564056		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19564056G>C	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1607C>G	X.37:g.19564056G>C	ENSP00000380921:p.Thr536Ser					SH3KBP1_uc011mje.1_Missense_Mutation_p.T275S|SH3KBP1_uc011mjf.1_Missense_Mutation_p.T298S|SH3KBP1_uc004czl.2_Missense_Mutation_p.T499S|SH3KBP1_uc010nfm.2_Intron	p.T536S	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			15	1923	-			536					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.1607C>G	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	g	12.39	1.922220	0.33908	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.8	5.8	0.92144	.	0.302249	0.35096	N	0.003448	T	0.20861	0.0502	L	0.45581	1.43	0.45097	D	0.998113	B;B;B	0.16166	0.008;0.001;0.016	B;B;B	0.12156	0.005;0.005;0.007	T	0.10428	-1.0630	10	0.08381	T	0.77	-8.3084	18.997	0.92817	0.0:0.0:1.0:0.0	.	298;536;499	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	S	521;536;298;499;275;516	ENSP00000380921:T536S;ENSP00000369039:T298S;ENSP00000369020:T499S;ENSP00000442499:T275S;ENSP00000369049:T516S	ENSP00000369020:T499S	T	-	2	0	SH3KBP1	19473977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.052000	0.76634	2.434000	0.82447	0.597000	0.82753	ACT		PASS	0.473	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		42	33	42	33	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37029201	37029201	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chrX:37029201G>C	ENST00000358047.3	+	1	2770	c.2718G>C	c.(2716-2718)atG>atC	p.M906I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	906								p.M906I(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TAGACGAAATGGATGAGGTCA	0.453																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2716-2718)ATG>ATC		hypothetical protein LOC442444							96.0	94.0	95.0					X																	37029201		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029201G>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2718G>C	X.37:g.37029201G>C	ENSP00000367913:p.Met906Ile						p.M906I	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2732	+			906					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2718G>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.356591	0.01245	.	.	ENSG00000198173	ENST00000358047	T	0.40476	1.03	0.829	-1.66	0.08265	.	.	.	.	.	T	0.26810	0.0656	M	0.64997	1.995	0.09310	N	1	P	0.38440	0.631	B	0.29353	0.101	T	0.15292	-1.0442	8	0.22706	T	0.39	.	.	.	.	.	906	Q5HY64	FA47C_HUMAN	I	906	ENSP00000367913:M906I	ENSP00000367913:M906I	M	+	3	0	FAM47C	36939122	0.010000	0.17322	0.000000	0.03702	0.002000	0.02628	0.737000	0.26144	-1.622000	0.01560	-0.766000	0.03442	ATG		PASS	0.453	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		94	73	94	73	---	---	---	---
AMER1	139285	broad.mit.edu	37	X	63411391	63411391	+	Silent	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chrX:63411391C>T	ENST00000330258.3	-	2	2048	c.1776G>A	c.(1774-1776)gaG>gaA	p.E592E	AMER1_ENST00000403336.1_Silent_p.E592E|AMER1_ENST00000374869.3_Silent_p.E592E	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	592					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.E592E(2)									TGGCGTGGGCCTCCCTGGCAT	0.617																																						uc004dvo.2																			69	Whole gene deletion(67)|Substitution - coding silent(2)	p.0?(40)	kidney(65)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(1774-1776)GAG>GAA		family with sequence similarity 123B							48.0	44.0	45.0					X																	63411391		2203	4300	6503	SO:0001819	synonymous_variant	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63411391C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1776G>A	X.37:g.63411391C>T							p.E592E	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	2049	-			592					A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.1776G>A	CCDS14377.2																																																																																				PASS	0.617	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		34	34	34	34	---	---	---	---
PDZD11	51248	broad.mit.edu	37	X	69507655	69507655	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chrX:69507655C>A	ENST00000239666.4	-	5	386	c.254G>T	c.(253-255)aGa>aTa	p.R85I	KIF4A_ENST00000374403.3_5'Flank|PDZD11_ENST00000473667.1_5'UTR|KIF4A_ENST00000374388.3_5'Flank|PDZD11_ENST00000374454.1_Missense_Mutation_p.R85I	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	85	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)	p.R85I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						CAGTCCTGCTCTATGTGCATC	0.458																																						uc004dyd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)AGA>ATA		PDZ domain containing 11							157.0	121.0	134.0					X																	69507655		2203	4300	6503	SO:0001583	missense	51248					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding	g.chrX:69507655C>A	AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.254G>T	X.37:g.69507655C>A	ENSP00000239666:p.Arg85Ile					KIF4A_uc004dyg.2_5'Flank|KIF4A_uc010nkw.2_5'Flank|PDZD11_uc004dye.1_Missense_Mutation_p.R117I|KIF4A_uc004dyf.1_5'Flank	p.R85I	NM_016484	NP_057568	Q5EBL8	PDZ11_HUMAN			5	356	-			85			PDZ.		D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	c.254G>T	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793297	0.50102	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.30714	1.52;1.52	5.19	4.33	0.51752	PDZ/DHR/GLGF (4);	0.050749	0.85682	D	0.000000	T	0.35307	0.0927	L	0.41124	1.26	0.58432	D	0.999999	D;B	0.53151	0.958;0.192	P;B	0.54312	0.748;0.085	T	0.09618	-1.0666	10	0.59425	D	0.04	.	8.3135	0.32086	0.0:0.8194:0.0:0.1806	.	116;85	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	I	85	ENSP00000239666:R85I;ENSP00000363578:R85I	ENSP00000239666:R85I	R	-	2	0	PDZD11	69424380	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.237000	0.65360	1.164000	0.42652	0.600000	0.82982	AGA		PASS	0.458	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484		4	169	4	169	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99661771	99661771	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chrX:99661771C>T	ENST00000373034.4	-	1	3500	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	PCDH19_ENST00000255531.7_Missense_Mutation_p.E609K|PCDH19_ENST00000420881.2_Missense_Mutation_p.E609K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	609	Cadherin 6. {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.E110K(1)|p.E609K(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGGTCGCCCTCGGTCATGTCG	0.552																																						uc010nmz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1825-1827)GAG>AAG		protocadherin 19 isoform b							63.0	62.0	62.0					X																	99661771		2046	4157	6203	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661771C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1825G>A	X.37:g.99661771C>T	ENSP00000362125:p.Glu609Lys					PCDH19_uc004efw.3_Missense_Mutation_p.E609K|PCDH19_uc004efx.3_Missense_Mutation_p.E609K	p.E609K	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3501	-			609			Cadherin 6.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1825G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686150	0.68157	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.59638	0.25;0.25;0.25	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.099703	0.64402	D	0.000002	T	0.58609	0.2134	L	0.33245	0.995	0.80722	D	1	D;D;D	0.67145	0.996;0.967;0.973	P;P;P	0.57548	0.823;0.473;0.608	T	0.53337	-0.8453	10	0.02654	T	1	.	18.621	0.91321	0.0:1.0:0.0:0.0	.	609;609;609	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	K	609	ENSP00000400327:E609K;ENSP00000362125:E609K;ENSP00000255531:E609K	ENSP00000255531:E609K	E	-	1	0	PCDH19	99548427	1.000000	0.71417	0.899000	0.35326	0.975000	0.68041	5.999000	0.70665	2.341000	0.79615	0.513000	0.50165	GAG		PASS	0.552	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		48	30	48	30	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694197	109694197	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chrX:109694197A>T	ENST00000465301.2	+	3	598	c.352A>T	c.(352-354)Atg>Ttg	p.M118L	RGAG1_ENST00000540313.1_Missense_Mutation_p.M118L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	118								p.M118L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCCATTGCTAATGCCAGCCTT	0.522																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(352-354)ATG>TTG		retrotransposon gag domain containing 1							135.0	118.0	124.0					X																	109694197		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694197A>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.352A>T	X.37:g.109694197A>T	ENSP00000419786:p.Met118Leu					RGAG1_uc011msr.1_Missense_Mutation_p.M118L	p.M118L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	598	+			118					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.352A>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939460	0.52972	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.55760	0.5;0.5	4.16	2.95	0.34219	.	0.398562	0.18443	N	0.141098	T	0.53110	0.1776	L	0.29908	0.895	0.24917	N	0.992006	P	0.43024	0.798	P	0.60236	0.871	T	0.36672	-0.9738	9	.	.	.	-1.2187	6.5791	0.22583	0.7559:0.2441:0.0:0.0	.	118	Q8NET4	RGAG1_HUMAN	L	118	ENSP00000419786:M118L;ENSP00000441452:M118L	.	M	+	1	0	RGAG1	109580853	1.000000	0.71417	0.997000	0.53966	0.459000	0.32528	3.004000	0.49513	0.689000	0.31550	0.486000	0.48141	ATG		PASS	0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		136	116	136	116	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152827614	152827614	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chrX:152827614G>T	ENST00000349466.2	+	19	3399	c.3073G>T	c.(3073-3075)Ggg>Tgg	p.G1025W	ATP2B3_ENST00000263519.4_Missense_Mutation_p.G1025W|ATP2B3_ENST00000370186.1_Missense_Mutation_p.G1011W|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G1011W|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G1011W|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G1025W			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1025					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G1025W(3)|p.G1011W(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTTTGGCGGGAAGCCCTT	0.612																																						uc004fht.1																			4	Substitution - Missense(4)		lung(4)	pancreas(1)	1						c.(3073-3075)GGG>TGG		plasma membrane calcium ATPase 3 isoform 3b							177.0	151.0	160.0					X																	152827614		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152827614G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3073G>T	X.37:g.152827614G>T	ENSP00000343886:p.Gly1025Trp					ATP2B3_uc004fhs.1_Missense_Mutation_p.G1025W|ATP2B3_uc010nuf.1_Missense_Mutation_p.G48W|ATP2B3_uc004fhu.1_5'UTR	p.G1025W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			18	3199	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1025			Extracellular (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.3073G>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438230	0.83885	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	4.91	4.91	0.64330	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	H	0.99211	4.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.99521	1.0958	10	0.87932	D	0	-23.3721	16.1073	0.81234	0.0:0.0:1.0:0.0	.	1011;1025;1025	Q16720-3;Q16720;Q16720-2	.;AT2B3_HUMAN;.	W	1011;1025;1011;1025;1025;1011	ENSP00000359205:G1011W;ENSP00000343886:G1025W;ENSP00000377425:G1011W;ENSP00000352062:G1025W;ENSP00000263519:G1025W;ENSP00000359200:G1011W	ENSP00000263519:G1025W	G	+	1	0	ATP2B3	152480808	1.000000	0.71417	0.962000	0.40283	0.948000	0.59901	9.807000	0.99171	2.053000	0.61076	0.529000	0.55759	GGG		PASS	0.612	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		105	101	105	101	---	---	---	---
SPRY3	10251	broad.mit.edu	37	X	155003879	155003879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chrX:155003879C>T	ENST00000302805.2	+	2	777	c.346C>T	c.(346-348)Caa>Taa	p.Q116*		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	116					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q116*(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CATCCGAACCCAACCTGGAGC	0.552																																						uc004fnq.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(346-348)CAA>TAA		sprouty homolog 3							105.0	102.0	103.0					X																	155003879		2203	4296	6499	SO:0001587	stop_gained	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003879C>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.346C>T	X.37:g.155003879C>T	ENSP00000302978:p.Gln116*					SPRY3_uc010nvl.1_Intron	p.Q116*	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	800	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		116					A8K0H8	Nonsense_Mutation	SNP	ENST00000302805.2	37	c.346C>T	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	C	35	5.429873	0.96131	.	.	ENSG00000168939	ENST00000302805	.	.	.	3.05	3.05	0.35203	.	0.074187	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.7464	11.2005	0.48739	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000302978:Q116X	Q	+	1	0	SPRY3	154657073	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	3.889000	0.56212	1.552000	0.49463	0.279000	0.19357	CAA		PASS	0.552	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		54	73	54	73	---	---	---	---
PCDH11Y	83259	broad.mit.edu	37	Y	5369195	5369195	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chrY:5369195C>A	ENST00000215473.6	+	3	3227	c.3227C>A	c.(3226-3228)aCa>aAa	p.T1076K				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1076					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1076K(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTTACCAGCACATCCCATGGC	0.567																																						uc004fqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3226-3228)ACA>AAA		protocadherin 11 Y-linked isoform c																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5369195C>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	ENST00000215473.6:c.3227C>A	Y.37:g.5369195C>A	ENSP00000215473:p.Thr1076Lys						p.T1076K	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			3	3961	+			1076			Cytoplasmic (Potential).		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37	c.3227C>A																																																																																					PASS	0.567	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973		71	57	71	57	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41000798	41000798	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr5:41000798delG	ENST00000399564.4	-	38	4782	c.4332delC	c.(4330-4332)cccfs	p.P1444fs	MROH2B_ENST00000506092.2_Frame_Shift_Del_p.P999fs	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1444																	TCTTGGGGTTGGGATCCCAAA	0.488																																						uc003jmj.3																			0				ovary(6)|central_nervous_system(2)	8						c.(4330-4332)CCCfs		HEAT repeat family member 7B2							66.0	68.0	68.0					5																	41000798		1892	4117	6009	SO:0001589	frameshift_variant	133558						binding	g.chr5:41000798delG		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4332delC	5.37:g.41000798delG	ENSP00000382476:p.Pro1444fs					HEATR7B2_uc003jmi.3_Frame_Shift_Del_p.P999fs	p.P1444fs	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			38	4822	-			1444					Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Del	DEL	ENST00000399564.4	37	c.4332delC	CCDS47202.1																																																																																					0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		47	23	47	23	---	---	---	---
OR7E47P	26628	broad.mit.edu	37	12	52501561	52501562	+	RNA	INS	-	-	TT	rs113847495	byFrequency	TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr12:52501561_52501562insTT	ENST00000546390.1	+	0	960_961				AC078864.1_ENST00000582209.1_RNA					olfactory receptor, family 7, subfamily E, member 47 pseudogene																		GTTTTGCTGTCTTTTTTTTTTC	0.436														516	0.103035	0.2738	0.0706	5008	,	,		20149	0.001		0.0626	False		,,,				2504	0.0419					uc009zme.1																			0													Homo sapiens olfactory receptor, family 7, subfamily E, member 47 pseudogene, mRNA (cDNA clone IMAGE:5590288).																																						0							g.chr12:52501561_52501562insTT	X87825		12q13.13	2013-01-23			ENSG00000257542	ENSG00000257542		"""GPCR / Class A : Olfactory receptors"""	8421	pseudogene	pseudogene						8647456	Standard	NR_120439		Approved	OR7E141			OTTHUMG00000169615		12.37:g.52501570_52501571dupTT														3		+									RNA	INS	ENST00000546390.1	37	c.960_961insTT																																																																																						0.436	OR7E47P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000405071.1	NG_004128		5	5	5	5	---	---	---	---
Unknown	0	broad.mit.edu	37	14	106770438	106770439	+	IGR	INS	-	-	CT	rs201826648|rs375833692	byFrequency	TCGA-66-2783-01A-01D-1267-08	TCGA-66-2783-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f574d3b7-4ae4-49bc-9e05-f965fbc86119	ec252807-66f6-42aa-8ba7-1634ce644008	g.chr14:106770438_106770439insCT								IGHV2-26 (12322 upstream) : IGHV4-28 (10073 downstream)																							CCTGGCCCAGCCTCTCTTGGCT	0.52														159	0.0317492	0.1074	0.0101	5008	,	,		13768	0.001		0.001	False		,,,				2504	0.0082					uc010tyt.1																			0					0						c.e442-1		Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	8755							g.chr14:106770438_106770439insCT																													14.37:g.106770443_106770444dupCT														442		-									Splice_Site	INS		37	c.15776_splice																																																																																				0		0.520									4	2	4	2	---	---	---	---
