#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
DVL1	1855	broad.mit.edu	37	1	1275504	1275504	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:1275504C>G	ENST00000378888.5	-	8	1107	c.823G>C	c.(823-825)Gac>Cac	p.D275H	DVL1_ENST00000378891.5_Missense_Mutation_p.D275H			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	275	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)	p.D275H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATGCCGCCGTCTCCACGGTCG	0.652																																						uc001aer.3																			1	Substitution - Missense(1)		lung(1)		0						c.(823-825)GAC>CAC		dishevelled 1							61.0	62.0	62.0					1																	1275504		2203	4300	6503	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1275504C>G	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.823G>C	1.37:g.1275504C>G	ENSP00000368166:p.Asp275His					DVL1_uc002quu.2_5'UTR|DVL1_uc009vka.2_5'UTR|DVL1_uc001aeu.1_5'UTR	p.D275H	NM_004421	NP_004412	O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	8	870	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	275			PDZ.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.823G>C		.	.	.	.	.	.	.	.	.	.	C	15.51	2.854875	0.51376	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.43688	0.94;0.94	3.43	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.86740	2.835	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	T	0.76849	-0.2807	10	0.87932	D	0	.	15.4663	0.75403	0.0:1.0:0.0:0.0	.	275	O14640-2	.	H	275	ENSP00000368169:D275H;ENSP00000368166:D275H	ENSP00000368166:D275H	D	-	1	0	DVL1	1265367	1.000000	0.71417	0.088000	0.20740	0.053000	0.15095	7.483000	0.81158	1.933000	0.56026	0.456000	0.33151	GAC		PASS	0.652	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		3	23	3	23	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7725174	7725174	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:7725174C>T	ENST00000303635.7	+	9	2774	c.2567C>T	c.(2566-2568)tCg>tTg	p.S856L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S856L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	856					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S856L(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCGGCCGCCTCGGCCCAGGGC	0.677			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2566-2568)TCG>TTG		calmodulin-binding transcription activator 1							38.0	35.0	36.0					1																	7725174		2182	4252	6434	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725174C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2567C>T	1.37:g.7725174C>T	ENSP00000306522:p.Ser856Leu						p.S856L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2774	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	856					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2567C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.113560	0.37339	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.20463	2.07;2.07	4.92	4.92	0.64577	.	0.270583	0.29246	N	0.012704	T	0.12390	0.0301	N	0.08118	0	0.29135	N	0.879396	B	0.20780	0.048	B	0.09377	0.004	T	0.06643	-1.0815	10	0.21540	T	0.41	-1.1173	18.1227	0.89577	0.0:1.0:0.0:0.0	.	856	Q9Y6Y1	CMTA1_HUMAN	L	856	ENSP00000306522:S856L;ENSP00000402561:S856L	ENSP00000306522:S856L	S	+	2	0	CAMTA1	7647761	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	4.556000	0.60775	2.295000	0.77249	0.478000	0.44815	TCG		PASS	0.677	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		7	27	7	27	---	---	---	---
PADI4	23569	broad.mit.edu	37	1	17690223	17690223	+	Silent	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:17690223C>A	ENST00000375448.4	+	16	1991	c.1965C>A	c.(1963-1965)tcC>tcA	p.S655S		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	655					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.S655S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGCCCTTCTCCTTCAAGTGGT	0.602																																						uc001baj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1963-1965)TCC>TCA		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						82.0	69.0	73.0					1																	17690223		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17690223C>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1965C>A	1.37:g.17690223C>A							p.S655S	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	16	1993	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	655					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.1965C>A	CCDS180.1																																																																																				PASS	0.602	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		4	31	4	31	---	---	---	---
USP48	84196	broad.mit.edu	37	1	22033294	22033294	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:22033294C>A	ENST00000308271.9	-	16	2679	c.2031G>T	c.(2029-2031)caG>caT	p.Q677H	USP48_ENST00000529637.1_Missense_Mutation_p.Q689H|USP48_ENST00000374732.3_Missense_Mutation_p.Q215H|USP48_ENST00000400301.1_Missense_Mutation_p.Q677H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	677	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.Q677H(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTGGAAAGTACTGCTGCAGTT	0.403																																						uc001bfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2029-2031)CAG>CAT		ubiquitin specific protease 48 isoform a							131.0	122.0	125.0					1																	22033294		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22033294C>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2031G>T	1.37:g.22033294C>A	ENSP00000309262:p.Gln677His					USP48_uc001bfa.2_Missense_Mutation_p.Q215H|USP48_uc010odq.1_Missense_Mutation_p.Q689H|USP48_uc009vqc.2_Missense_Mutation_p.Q611H|USP48_uc001bfc.2_Missense_Mutation_p.Q677H|USP48_uc001bfd.1_5'Flank	p.Q677H	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	16	2269	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	677			DUSP 2.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.2031G>T	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827426	0.32329	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.07	2.06	0.26882	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.238690	0.44285	D	0.000474	T	0.31949	0.0813	L	0.44542	1.39	0.40584	D	0.981427	P;B;B;B;P	0.48503	0.883;0.024;0.032;0.019;0.911	B;B;B;B;B	0.44163	0.438;0.008;0.008;0.004;0.443	T	0.11446	-1.0587	10	0.12103	T	0.63	.	9.2812	0.37729	0.0:0.6748:0.0:0.3252	.	689;677;677;677;215	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	H	677;677;215;689	ENSP00000383157:Q677H;ENSP00000309262:Q677H;ENSP00000363864:Q215H;ENSP00000431949:Q689H	ENSP00000309262:Q677H	Q	-	3	2	USP48	21905881	0.935000	0.31712	0.999000	0.59377	0.998000	0.95712	-0.057000	0.11768	0.629000	0.30376	0.563000	0.77884	CAG		PASS	0.403	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		18	65	18	65	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35351124	35351124	+	Silent	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:35351124C>G	ENST00000373347.1	-	7	2137	c.1869G>C	c.(1867-1869)cgG>cgC	p.R623R	DLGAP3_ENST00000235180.4_Silent_p.R623R			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	623					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.R623R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCGCCAGGCTCCGCAGCTCCT	0.721																																						uc001byc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1867-1869)CGG>CGC		discs, large (Drosophila) homolog-associated							16.0	21.0	20.0					1																	35351124		2153	4237	6390	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35351124C>G	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1869G>C	1.37:g.35351124C>G							p.R623R	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			5	1869	-		Myeloproliferative disorder(586;0.0393)	623					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.1869G>C	CCDS30670.1																																																																																				PASS	0.721	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		4	9	4	9	---	---	---	---
ZMYM1	79830	broad.mit.edu	37	1	35579229	35579229	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:35579229G>A	ENST00000373330.1	+	11	1972	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.E600K			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	600						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E600K(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAAAGGAGAAGAAACATTTCG	0.318																																						uc001bym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1798-1800)GAA>AAA		zinc finger, MYM domain containing 1							44.0	43.0	43.0					1																	35579229		1823	4062	5885	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579229G>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1798G>A	1.37:g.35579229G>A	ENSP00000362427:p.Glu600Lys					ZMYM1_uc001byn.2_Missense_Mutation_p.E600K|ZMYM1_uc010ohu.1_Missense_Mutation_p.E581K|ZMYM1_uc001byo.2_Missense_Mutation_p.E240K|ZMYM1_uc009vut.2_Missense_Mutation_p.E525K	p.E600K	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	1946	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	600					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.1798G>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	4.788	0.146509	0.09134	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.18338	2.49;2.22;2.49	4.53	2.66	0.31614	.	0.465747	0.18319	N	0.144860	T	0.21347	0.0514	L	0.48362	1.52	0.23221	N	0.9981	P;P	0.50819	0.939;0.856	P;P	0.50860	0.652;0.652	T	0.04178	-1.0971	9	.	.	.	-7.0426	9.2045	0.37280	0.1803:0.0:0.8197:0.0	.	581;600	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	K	600;525;600	ENSP00000352920:E600K;ENSP00000362426:E525K;ENSP00000362427:E600K	.	E	+	1	0	ZMYM1	35351816	1.000000	0.71417	0.883000	0.34634	0.045000	0.14185	3.387000	0.52501	0.837000	0.34925	-0.150000	0.13652	GAA		PASS	0.318	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		6	27	6	27	---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36202137	36202137	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:36202137G>A	ENST00000318121.3	-	25	4037	c.3980C>T	c.(3979-3981)tCa>tTa	p.S1327L	CLSPN_ENST00000520551.1_Missense_Mutation_p.S1274L|CLSPN_ENST00000373220.3_Missense_Mutation_p.S1263L|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000251195.5_Intron|CLSPN_ENST00000466308.1_5'UTR	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1327					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.S1327L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGTCAATCCTGAAGTGCTATC	0.443																																						uc001bzi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(3979-3981)TCA>TTA		claspin							156.0	147.0	150.0					1																	36202137		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36202137G>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3980C>T	1.37:g.36202137G>A	ENSP00000312995:p.Ser1327Leu					CLSPN_uc009vux.2_Missense_Mutation_p.S1263L	p.S1327L	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			25	4060	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1327					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.3980C>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705240	0.48412	.	.	ENSG00000092853	ENST00000318121;ENST00000373220;ENST00000520551	T;T;T	0.23552	1.9;1.9;1.9	5.29	4.31	0.51392	.	0.601885	0.16361	N	0.217749	T	0.17619	0.0423	N	0.22421	0.69	0.22675	N	0.998869	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.002	T	0.06499	-1.0823	10	0.40728	T	0.16	-1.2303	11.2883	0.49234	0.0943:0.0:0.9057:0.0	.	1263;1327	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	L	1327;1263;1274	ENSP00000312995:S1327L;ENSP00000362317:S1263L;ENSP00000428848:S1274L	ENSP00000312995:S1327L	S	-	2	0	CLSPN	35974724	0.982000	0.34865	0.998000	0.56505	0.969000	0.65631	1.638000	0.37165	2.752000	0.94435	0.655000	0.94253	TCA		PASS	0.443	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		9	64	9	64	---	---	---	---
AGO3	192669	broad.mit.edu	37	1	36479647	36479647	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:36479647G>C	ENST00000373191.4	+	11	1753	c.1404G>C	c.(1402-1404)ttG>ttC	p.L468F	AGO3_ENST00000246314.6_Missense_Mutation_p.L234F|RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	468					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.L468F(1)									AAGAAATATTGAAGTAAGACA	0.378																																						uc001bzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1402-1404)TTG>TTC		eukaryotic translation initiation factor 2C, 3							152.0	148.0	150.0					1																	36479647		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36479647G>C	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1404G>C	1.37:g.36479647G>C	ENSP00000362287:p.Leu468Phe					EIF2C3_uc001bzq.2_Missense_Mutation_p.L234F	p.L468F	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			11	1660	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	468					B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.1404G>C	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798400	0.50208	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05513	3.43;3.43	5.65	3.76	0.43208	.	0.069359	0.56097	D	0.000021	T	0.18215	0.0437	M	0.92604	3.325	0.80722	D	1	B	0.29136	0.234	B	0.36766	0.232	T	0.00961	-1.1499	10	0.87932	D	0	-7.3896	10.8099	0.46540	0.2023:0.0:0.7977:0.0	.	468	Q9H9G7	AGO3_HUMAN	F	468;234	ENSP00000362287:L468F;ENSP00000246314:L234F	ENSP00000246314:L234F	L	+	3	2	EIF2C3	36252234	1.000000	0.71417	0.956000	0.39512	0.957000	0.61999	1.134000	0.31442	0.736000	0.32559	0.650000	0.86243	TTG		PASS	0.378	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		6	91	6	91	---	---	---	---
EVA1B	55194	broad.mit.edu	37	1	36788602	36788602	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:36788602T>G	ENST00000270824.1	-	2	328	c.37A>C	c.(37-39)Aac>Cac	p.N13H	SH3D21_ENST00000474766.1_Intron|RP11-268J15.5_ENST00000373137.2_5'Flank|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	13						integral component of membrane (GO:0016021)		p.N13H(1)									GCCAGGCTGTTGCTGAGCAAC	0.667																																						uc001cai.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(37-39)AAC>CAC		hypothetical protein LOC55194							43.0	46.0	45.0					1																	36788602		2203	4300	6503	SO:0001583	missense	55194					integral to membrane		g.chr1:36788602T>G	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 78"", ""family with sequence similarity 176, member B"""	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.37A>C	1.37:g.36788602T>G	ENSP00000270824:p.Asn13His					C1orf113_uc010oic.1_Intron|FAM176B_uc001caj.1_Missense_Mutation_p.N13H	p.N13H	NM_018166	NP_060636	Q9NVM1	F176B_HUMAN			1	248	-			13					D3DPS7	Missense_Mutation	SNP	ENST00000270824.1	37	c.37A>C	CCDS406.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383646	0.61845	.	.	ENSG00000142694	ENST00000270824	T	0.55588	0.51	4.59	3.42	0.39159	.	0.171581	0.49916	D	0.000126	T	0.50069	0.1594	M	0.71871	2.18	0.38655	D	0.95194	P	0.44429	0.835	B	0.41088	0.347	T	0.54788	-0.8241	10	0.66056	D	0.02	-19.8646	8.0014	0.30299	0.1821:0.0:0.0:0.8179	.	13	Q9NVM1	F176B_HUMAN	H	13	ENSP00000270824:N13H	ENSP00000270824:N13H	N	-	1	0	FAM176B	36561189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.160000	0.58164	0.570000	0.29347	0.379000	0.24179	AAC		PASS	0.667	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1	NM_018166		9	21	9	21	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45484503	45484503	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:45484503T>G	ENST00000359600.5	-	14	3386	c.3181A>C	c.(3181-3183)Atc>Ctc	p.I1061L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1061						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.I1061L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACCAGGGGGATGAGAGCTGCC	0.582											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cnd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3181-3183)ATC>CTC		zinc finger, SWIM domain containing 5							62.0	59.0	60.0					1																	45484503		2051	4204	6255	SO:0001583	missense	57643						zinc ion binding	g.chr1:45484503T>G	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3181A>C	1.37:g.45484503T>G	ENSP00000352614:p.Ile1061Leu		OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.I1061L	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			14	3409	-	Acute lymphoblastic leukemia(166;0.155)		1061					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.3181A>C	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.104313	0.37145	.	.	ENSG00000162415	ENST00000359600	T	0.53857	0.6	4.83	4.83	0.62350	.	0.045091	0.85682	D	0.000000	T	0.49236	0.1545	L	0.58428	1.81	0.52501	D	0.999959	P	0.39903	0.694	B	0.40410	0.328	T	0.52638	-0.8549	10	0.49607	T	0.09	-13.4754	9.6553	0.39921	0.0:0.0797:0.0:0.9203	.	1061	Q9P217	ZSWM5_HUMAN	L	1061	ENSP00000352614:I1061L	ENSP00000352614:I1061L	I	-	1	0	ZSWIM5	45257090	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.923000	0.56469	2.106000	0.64143	0.454000	0.30748	ATC		PASS	0.582	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		12	28	12	28	---	---	---	---
SPATA6	54558	broad.mit.edu	37	1	48771547	48771547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:48771547C>A	ENST00000371847.3	-	12	1362	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*	SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E384*|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E328*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	400					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.E400*(2)|p.E400K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGGTCTCTCTCATCCTGAAAA	0.368																																						uc001crr.1																			3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(2)|breast(1)	ovary(1)	1						c.(1198-1200)GAG>TAG		spermatogenesis associated 6 precursor							153.0	166.0	161.0					1																	48771547		2203	4300	6503	SO:0001587	stop_gained	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48771547C>A	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1198G>T	1.37:g.48771547C>A	ENSP00000360913:p.Glu400*					SPATA6_uc001crs.1_Nonsense_Mutation_p.E384*|SPATA6_uc010omv.1_Nonsense_Mutation_p.E386*	p.E400*	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN			12	1363	-			400					Q5T3N7|Q8WUE6	Nonsense_Mutation	SNP	ENST00000371847.3	37	c.1198G>T	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	36	5.822867	0.96989	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	.	.	.	4.4	4.4	0.53042	.	0.268949	0.35320	N	0.003290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	12.6588	0.56801	0.0:1.0:0.0:0.0	.	.	.	.	X	400;384;328;225	.	ENSP00000360907:E225X	E	-	1	0	SPATA6	48544134	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.900000	0.56295	2.454000	0.82982	0.467000	0.42956	GAG		PASS	0.368	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		19	53	19	53	---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52266248	52266248	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:52266248G>C	ENST00000354831.7	-	23	2814	c.2625C>G	c.(2623-2625)atC>atG	p.I875M	NRD1_ENST00000352171.7_Missense_Mutation_p.I807M|RP4-657D16.3_ENST00000591675.1_RNA|NRD1_ENST00000539524.1_Missense_Mutation_p.I743M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.I675M|RP4-657D16.6_ENST00000607338.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|RP4-657D16.3_ENST00000586761.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	806					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.I875M(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCTCGGGCTTGATGAGGATGT	0.428																																						uc001ctc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2623-2625)ATC>ATG		nardilysin isoform a							187.0	175.0	179.0					1																	52266248		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52266248G>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2625C>G	1.37:g.52266248G>C	ENSP00000346890:p.Ile875Met					NRD1_uc009vzb.2_Missense_Mutation_p.I570M|NRD1_uc001ctd.3_Missense_Mutation_p.I807M|NRD1_uc001cte.2_Missense_Mutation_p.I743M|NRD1_uc001ctf.2_Missense_Mutation_p.I807M|NRD1_uc010ong.1_RNA	p.I875M	NM_002525	NP_002516	O43847	NRDC_HUMAN			23	2947	-			806					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2625C>G	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.72|12.72	2.022961|2.022961	0.35701|0.35701	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028|ENST00000440943	T;T;T;T|.	0.29655|.	1.56;1.56;1.56;1.56|.	5.01|5.01	4.08|4.08	0.47627|0.47627	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63965|0.63965	0.2556|0.2556	L|L	0.59912|0.59912	1.85|1.85	0.58432|0.58432	D|D	0.999996|0.999996	P;D;D|.	0.53312|.	0.915;0.959;0.959|.	P;P;P|.	0.49887|.	0.596;0.625;0.625|.	T|T	0.61540|0.61540	-0.7042|-0.7042	10|5	0.38643|.	T|.	0.18|.	-9.5501|-9.5501	12.2109|12.2109	0.54379|0.54379	0.1381:0.0:0.8619:0.0|0.1381:0.0:0.8619:0.0	.|.	807;806;875|.	F5H6R2;O43847;B1AKJ5|.	.;NRDC_HUMAN;.|.	M|E	807;875;743;237;807;675|222	ENSP00000262679:I807M;ENSP00000346890:I875M;ENSP00000444416:I743M;ENSP00000442262:I675M|.	ENSP00000262679:I807M|.	I|Q	-|-	3|1	3|0	NRD1|NRD1	52038836|52038836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.155000|1.155000	0.31700|0.31700	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	ATC|CAA		PASS	0.428	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		5	114	5	114	---	---	---	---
CPT2	1376	broad.mit.edu	37	1	53676146	53676146	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:53676146C>G	ENST00000371486.3	+	4	1315	c.800C>G	c.(799-801)tCg>tGg	p.S267W	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	267					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.S267W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GTGAGCCCCTCGGAAATCCAG	0.512																																						uc001cvb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)TCG>TGG		carnitine O-palmitoyltransferase precursor	L-Carnitine(DB00583)|Perhexiline(DB01074)						60.0	65.0	63.0					1																	53676146		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676146C>G	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.800C>G	1.37:g.53676146C>G	ENSP00000360541:p.Ser267Trp						p.S267W	NM_000098	NP_000089	P23786	CPT2_HUMAN			4	1315	+			267			Mitochondrial matrix (By similarity).		B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.800C>G	CCDS575.1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.191687	0.58017	.	.	ENSG00000157184	ENST00000371486	D	0.90385	-2.66	5.5	4.6	0.57074	.	0.424320	0.27595	N	0.018669	D	0.94837	0.8332	M	0.82630	2.6	0.58432	D	0.999995	D	0.64830	0.994	P	0.62813	0.907	D	0.95261	0.8369	10	0.72032	D	0.01	-9.3755	14.6017	0.68445	0.0:0.9301:0.0:0.0699	.	267	P23786	CPT2_HUMAN	W	267	ENSP00000360541:S267W	ENSP00000360541:S267W	S	+	2	0	CPT2	53448734	0.975000	0.34042	0.998000	0.56505	0.948000	0.59901	3.709000	0.54853	1.332000	0.45431	-0.127000	0.14921	TCG		PASS	0.512	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		6	83	6	83	---	---	---	---
ALG6	29929	broad.mit.edu	37	1	63876833	63876833	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:63876833C>G	ENST00000371108.4	+	8	816	c.511C>G	c.(511-513)Ctt>Gtt	p.L171V	ALG6_ENST00000263440.4_Missense_Mutation_p.L173V	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	171					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)	p.L171V(1)		endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTCTGTGAGTCTTGGCTTTGC	0.358																																						uc010oow.1																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)CTT>GTT		dolichyl pyrophosphate Man9GlcNAc2							204.0	202.0	203.0					1																	63876833		2203	4300	6503	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63876833C>G	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.511C>G	1.37:g.63876833C>G	ENSP00000360149:p.Leu171Val					ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_RNA|ALG6_uc010oox.1_5'UTR	p.L171V	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN			8	816	+			171					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.511C>G	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549564	0.86127	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.87256	-2.23;-2.23	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	H	0.94698	3.57	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.95960	0.8961	10	0.72032	D	0.01	-24.3052	19.4585	0.94906	0.0:1.0:0.0:0.0	.	173	A2A2G4	.	V	171;173	ENSP00000360149:L171V;ENSP00000263440:L173V	ENSP00000263440:L173V	L	+	1	0	ALG6	63649421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.576000	0.67437	2.682000	0.91365	0.591000	0.81541	CTT		PASS	0.358	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		4	116	4	116	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70504896	70504896	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:70504896C>T	ENST00000035383.5	+	19	3305	c.3275C>T	c.(3274-3276)tCt>tTt	p.S1092F	LRRC7_ENST00000415775.2_Missense_Mutation_p.S376F|LRRC7_ENST00000310961.5_Missense_Mutation_p.S1097F	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1092						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.S1092F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTCAGCCATCTGTGAATGAG	0.532																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3274-3276)TCT>TTT		leucine rich repeat containing 7							70.0	74.0	73.0					1																	70504896		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504896C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3275C>T	1.37:g.70504896C>T	ENSP00000035383:p.Ser1092Phe					LRRC7_uc009wbg.2_Missense_Mutation_p.S376F|LRRC7_uc001deq.2_Missense_Mutation_p.S333F	p.S1092F	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3305	+			1092					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3275C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	7.792	0.711809	0.15306	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37915	1.17;1.24;2.33	5.76	5.76	0.90799	.	0.060693	0.64402	D	0.000002	T	0.30324	0.0761	L	0.47716	1.5	0.53005	D	0.999967	B;P;D	0.56521	0.307;0.729;0.976	B;P;P	0.47744	0.077;0.471;0.556	T	0.01087	-1.1456	10	0.29301	T	0.29	.	18.9453	0.92620	0.0:1.0:0.0:0.0	.	376;1092;1092	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	F	1097;1092;376;915	ENSP00000309245:S1097F;ENSP00000035383:S1092F;ENSP00000394867:S376F	ENSP00000035383:S1092F	S	+	2	0	LRRC7	70277484	1.000000	0.71417	0.052000	0.19188	0.004000	0.04260	5.567000	0.67378	2.721000	0.93114	0.655000	0.94253	TCT		PASS	0.532	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		17	37	17	37	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70518754	70518754	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:70518754G>T	ENST00000035383.5	+	21	4072	c.4042G>T	c.(4042-4044)Gta>Tta	p.V1348L	LRRC7_ENST00000415775.2_Missense_Mutation_p.V632L|LRRC7_ENST00000310961.5_Missense_Mutation_p.V1306L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1348						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.V1348L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAAGAAGATGTATCTCCTAG	0.408																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4042-4044)GTA>TTA		leucine rich repeat containing 7							117.0	112.0	114.0					1																	70518754		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70518754G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4042G>T	1.37:g.70518754G>T	ENSP00000035383:p.Val1348Leu					LRRC7_uc009wbg.2_Missense_Mutation_p.V632L|LRRC7_uc001deq.2_Missense_Mutation_p.V542L	p.V1348L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			21	4072	+			1348					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4042G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717329	0.30413	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.39056	1.1;1.25;2.36	5.57	0.391	0.16282	.	0.437579	0.21572	N	0.072392	T	0.06962	0.0177	N	0.14661	0.345	0.26004	N	0.982084	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.37430	-0.9706	10	0.21540	T	0.41	.	5.1623	0.15068	0.2826:0.2598:0.4576:0.0	.	632;1301;1348	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	L	1306;1348;632;1124	ENSP00000309245:V1306L;ENSP00000035383:V1348L;ENSP00000394867:V632L	ENSP00000035383:V1348L	V	+	1	0	LRRC7	70291342	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	0.866000	0.27954	0.032000	0.15435	-0.812000	0.03155	GTA		PASS	0.408	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		11	45	11	45	---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76387905	76387905	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:76387905T>G	ENST00000284142.6	-	2	680	c.541A>C	c.(541-543)Att>Ctt	p.I181L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	181					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.I181L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTTAAGACAATGTTGATAGGG	0.363																																						uc001dhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(541-543)ATT>CTT		ankyrin repeat and SOCS box-containing 17							117.0	99.0	105.0					1																	76387905		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76387905T>G	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.541A>C	1.37:g.76387905T>G	ENSP00000284142:p.Ile181Leu					ASB17_uc001dhf.1_RNA	p.I181L	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			2	681	-			181					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.541A>C	CCDS671.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.061835	0.36373	.	.	ENSG00000154007	ENST00000284142	T	0.32988	1.43	4.81	2.47	0.30058	.	0.703487	0.12800	N	0.438100	T	0.07052	0.0179	N	0.19112	0.55	0.23227	N	0.998083	B	0.20052	0.041	B	0.14023	0.01	T	0.33574	-0.9863	10	0.66056	D	0.02	.	6.4884	0.22101	0.0:0.2003:0.0:0.7997	.	181	Q8WXJ9	ASB17_HUMAN	L	181	ENSP00000284142:I181L	ENSP00000284142:I181L	I	-	1	0	ASB17	76160493	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.174000	0.31932	0.305000	0.22832	0.378000	0.23410	ATT		PASS	0.363	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		10	36	10	36	---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82436211	82436211	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:82436211G>C	ENST00000370728.1	+	18	3580	c.2935G>C	c.(2935-2937)Gaa>Caa	p.E979Q	LPHN2_ENST00000319517.6_Missense_Mutation_p.E966Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.E966Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.E979Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.E979Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.E966Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.E904Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.E979Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.E979Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.E966Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.E966Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.E979Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.E979Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.E966Q			O95490	LPHN2_HUMAN	latrophilin 2	979					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.E979K(1)|p.E966K(1)|p.E979Q(1)|p.E966Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTATGGAACAGAAAAAGCGTA	0.373																																						uc001dit.3																			4	Substitution - Missense(4)		lung(2)|skin(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(2896-2898)GAA>CAA		latrophilin 2 precursor							81.0	80.0	80.0					1																	82436211		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436211G>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2935G>C	1.37:g.82436211G>C	ENSP00000359763:p.Glu979Gln					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.E966Q|LPHN2_uc001div.2_Missense_Mutation_p.E966Q|LPHN2_uc009wcd.2_Missense_Mutation_p.E966Q|LPHN2_uc001diw.2_Missense_Mutation_p.E550Q|LPHN2_uc009wce.1_Missense_Mutation_p.E52Q	p.E966Q	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	15	3077	+			979			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2896G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.440|9.440	1.087730|1.087730	0.20390|0.20390	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46819|.	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86|.	5.83|5.83	1.72|1.72	0.24424|0.24424	GPCR, family 2-like (1);|.	0.564179|.	0.20206|.	N|.	0.096989|.	T|T	0.17195|0.17195	0.0413|0.0413	L|L	0.38649|0.38649	1.16|1.16	0.24134|0.24134	N|N	0.995752|0.995752	B;B;B;B|.	0.09022|.	0.001;0.002;0.001;0.002|.	B;B;B;B|.	0.10450|.	0.005;0.005;0.001;0.003|.	T|T	0.25572|0.25572	-1.0128|-1.0128	10|5	0.52906|.	T|.	0.07|.	.|.	8.8804|8.8804	0.35372|0.35372	0.1273:0.3453:0.5273:0.0|0.1273:0.3453:0.5273:0.0	.|.	979;966;966;966|.	O95490;O95490-3;O95490-4;O95490-2|.	LPHN2_HUMAN;.;.;.|.	Q|H	904;979;979;979;979;966;966;966;966;966;979;966;979;979|846	ENSP00000359756:E904Q;ENSP00000359763:E979Q;ENSP00000359765:E979Q;ENSP00000359762:E979Q;ENSP00000359760:E979Q;ENSP00000359758:E966Q;ENSP00000353006:E966Q;ENSP00000359750:E966Q;ENSP00000359748:E966Q;ENSP00000322270:E966Q;ENSP00000359752:E979Q;ENSP00000378344:E966Q;ENSP00000271029:E979Q;ENSP00000337306:E979Q|.	ENSP00000271029:E979Q|.	E|Q	+|+	1|3	0|2	LPHN2|LPHN2	82208799|82208799	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.971000|0.971000	0.66376|0.66376	1.309000|1.309000	0.33539|0.33539	0.068000|0.068000	0.16574|0.16574	-0.176000|-0.176000	0.13171|0.13171	GAA|CAG		PASS	0.373	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		9	27	9	27	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86590590	86590590	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:86590590C>A	ENST00000370571.2	-	3	1795	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D477Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	477					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.D477Y(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTATTTAGATCCTCATAATAA	0.338																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1429-1431)GAT>TAT		collagen, type XXIV, alpha 1 precursor							58.0	55.0	56.0					1																	86590590		1811	4080	5891	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590590C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1429G>T	1.37:g.86590590C>A	ENSP00000359603:p.Asp477Tyr					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.D477Y	p.D477Y	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1471	-			477					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1429G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249726	0.39797	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94330	-3.4;-3.4	5.56	5.56	0.83823	.	0.000000	0.41194	D	0.000934	D	0.93019	0.7778	L	0.29908	0.895	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	D	0.91168	0.4966	10	0.24483	T	0.36	.	18.5201	0.90948	0.0:1.0:0.0:0.0	.	477;477	F8WDM8;Q17RW2	.;COOA1_HUMAN	Y	477	ENSP00000359603:D477Y;ENSP00000392531:D477Y	ENSP00000359603:D477Y	D	-	1	0	COL24A1	86363178	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.791000	0.55469	2.615000	0.88500	0.563000	0.77884	GAT		PASS	0.338	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		9	27	9	27	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103461545	103461545	+	Splice_Site	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:103461545C>G	ENST00000370096.3	-	27	2607	c.2295G>C	c.(2293-2295)aaG>aaC	p.K765N	COL11A1_ENST00000358392.2_Splice_Site_p.K777N|COL11A1_ENST00000512756.1_Splice_Site_p.K649N|COL11A1_ENST00000353414.4_Splice_Site_p.K726N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	765	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.K765N(1)|p.K777N(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)		TTAACGTTACCTTTACTCCCC	0.398																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2293-2295)AAG>AAC		alpha 1 type XI collagen isoform A							49.0	55.0	53.0					1																	103461545		2202	4298	6500	SO:0001630	splice_region_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.chr1:103461545C>G	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.2295+1G>C	1.37:g.103461545C>G						COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.K777N|COL11A1_uc001dun.2_Missense_Mutation_p.K726N|COL11A1_uc009weh.2_Missense_Mutation_p.K649N	p.K765N	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	27	2613	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	765			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2295G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346899	0.82022	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.996;0.996;0.991	D	0.94672	0.7857	9	.	.	.	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	649;726;777;765	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	N	765;777;726;649	ENSP00000359114:K765N;ENSP00000351163:K777N;ENSP00000302551:K726N;ENSP00000426533:K649N	.	K	-	3	2	COL11A1	103234133	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	4.364000	0.59479	2.687000	0.91594	0.655000	0.94253	AAG		PASS	0.398	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	3	33	3	33	---	---	---	---
CSDE1	7812	broad.mit.edu	37	1	115269613	115269613	+	Missense_Mutation	SNP	T	T	C	rs376861013		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:115269613T>C	ENST00000358528.4	-	13	1881	c.1455A>G	c.(1453-1455)atA>atG	p.I485M	CSDE1_ENST00000339438.6_Missense_Mutation_p.I454M|CSDE1_ENST00000438362.2_Missense_Mutation_p.I531M|CSDE1_ENST00000534699.1_Missense_Mutation_p.I485M|CSDE1_ENST00000261443.5_Missense_Mutation_p.I454M|CSDE1_ENST00000369530.1_Missense_Mutation_p.I500M|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000530886.1_Missense_Mutation_p.I355M	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	485	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.I485M(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CCTTATCTCCTATTTGAGGAG	0.403																																						uc001efk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1453-1455)ATA>ATG		upstream of NRAS isoform 1		T	MET/ILE,MET/ILE,MET/ILE,MET/ILE,MET/ILE,MET/ILE	0,4406		0,0,2203	129.0	111.0	117.0		1455,1500,1593,1455,1362,1362	5.8	1.0	1		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	CSDE1	NM_001007553.2,NM_001130523.2,NM_001242891.1,NM_001242892.1,NM_001242893.1,NM_007158.5	10,10,10,10,10,10	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	485/799,500/814,531/845,485/799,454/768,454/768	115269613	1,13005	2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115269613T>C		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1455A>G	1.37:g.115269613T>C	ENSP00000351329:p.Ile485Met					CSDE1_uc001efi.2_Missense_Mutation_p.I531M|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.I454M|CSDE1_uc001efm.2_Missense_Mutation_p.I500M|CSDE1_uc009wgv.2_Missense_Mutation_p.I485M|CSDE1_uc001efn.2_Missense_Mutation_p.I454M	p.I485M	NM_001007553	NP_001007554	O75534	CSDE1_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)	13	1921	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	485			CSD 6.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1455A>G	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.278026	0.59758	0.0	1.16E-4	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.75	5.75	0.90469	.	0.242496	0.45867	D	0.000327	T	0.54303	0.1850	L	0.36672	1.1	0.41802	D	0.989925	P;B;D	0.60575	0.666;0.119;0.988	B;B;D	0.72338	0.235;0.025;0.977	T	0.56007	-0.8050	9	0.31617	T	0.26	-9.2852	11.1748	0.48593	0.1372:0.0:0.0:0.8628	.	500;485;531	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	M	454;531;485;454;355;500;485	.	ENSP00000261443:I454M	I	-	3	3	CSDE1	115071136	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.074000	0.41529	2.189000	0.69895	0.533000	0.62120	ATA		PASS	0.403	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		8	18	8	18	---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154227733	154227733	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:154227733A>C	ENST00000361546.2	+	16	2057	c.2015A>C	c.(2014-2016)cAt>cCt	p.H672P	UBAP2L_ENST00000428931.1_Missense_Mutation_p.H672P|UBAP2L_ENST00000343815.6_Missense_Mutation_p.H672P|UBAP2L_ENST00000271877.7_Missense_Mutation_p.H683P|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	672					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.H672P(2)|p.H168P(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCAATCAGCATTCATCCTCC	0.502																																						uc001fep.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(2014-2016)CAT>CCT		ubiquitin associated protein 2-like isoform a							183.0	158.0	167.0					1																	154227733		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154227733A>C	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2015A>C	1.37:g.154227733A>C	ENSP00000355343:p.His672Pro					UBAP2L_uc009wot.2_Missense_Mutation_p.H672P|UBAP2L_uc010pek.1_Missense_Mutation_p.H664P|UBAP2L_uc010pel.1_Missense_Mutation_p.H682P|UBAP2L_uc010pen.1_Missense_Mutation_p.H586P|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank	p.H672P	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		17	2182	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		672					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.2015A>C	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.289829	0.59976	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.13538	2.59;2.58;2.6;2.58	5.72	5.72	0.89469	.	0.284954	0.39146	N	0.001441	T	0.23766	0.0575	L	0.58810	1.83	0.44745	D	0.99774	P;D;D;D;D	0.60575	0.943;0.988;0.988;0.988;0.98	D;D;D;D;D	0.69654	0.924;0.965;0.965;0.965;0.924	T	0.00792	-1.1564	10	0.54805	T	0.06	-6.3114	15.1581	0.72759	1.0:0.0:0.0:0.0	.	586;683;665;672;672	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	P	672;672;168;168;683;672	ENSP00000345308:H672P;ENSP00000389445:H672P;ENSP00000271877:H683P;ENSP00000355343:H672P	ENSP00000271877:H683P	H	+	2	0	UBAP2L	152494357	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.138000	0.71717	2.169000	0.68431	0.533000	0.62120	CAT		PASS	0.502	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		10	68	10	68	---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154227736	154227736	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:154227736C>T	ENST00000361546.2	+	16	2060	c.2018C>T	c.(2017-2019)tCa>tTa	p.S673L	UBAP2L_ENST00000428931.1_Missense_Mutation_p.S673L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S673L|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S684L|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	673					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.S673L(2)|p.S169L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AATCAGCATTCATCCTCCTTG	0.507																																						uc001fep.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(2017-2019)TCA>TTA		ubiquitin associated protein 2-like isoform a							182.0	157.0	166.0					1																	154227736		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154227736C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2018C>T	1.37:g.154227736C>T	ENSP00000355343:p.Ser673Leu					UBAP2L_uc009wot.2_Missense_Mutation_p.S673L|UBAP2L_uc010pek.1_Missense_Mutation_p.S665L|UBAP2L_uc010pel.1_Missense_Mutation_p.S683L|UBAP2L_uc010pen.1_Missense_Mutation_p.S587L|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank	p.S673L	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		17	2185	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		673					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.2018C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364137	0.61513	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.14022	2.54;2.54;2.55;2.54	5.72	4.81	0.61882	.	0.283929	0.35124	N	0.003427	T	0.16342	0.0393	L	0.36672	1.1	0.37431	D	0.914046	B;B;D;D;B	0.57899	0.0;0.0;0.981;0.981;0.0	B;B;D;D;B	0.66351	0.0;0.001;0.943;0.943;0.0	T	0.01961	-1.1239	10	0.72032	D	0.01	-5.4712	13.8356	0.63408	0.0:0.9263:0.0:0.0737	.	587;684;666;673;673	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	L	673;673;169;169;684;673	ENSP00000345308:S673L;ENSP00000389445:S673L;ENSP00000271877:S684L;ENSP00000355343:S673L	ENSP00000271877:S684L	S	+	2	0	UBAP2L	152494360	0.819000	0.29175	0.999000	0.59377	0.971000	0.66376	3.580000	0.53907	1.413000	0.46997	-0.140000	0.14226	TCA		PASS	0.507	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		9	71	9	71	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157805709	157805709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:157805709C>A	ENST00000368174.4	-	3	388	c.292G>T	c.(292-294)Gga>Tga	p.G98*	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	98	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.G98*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTTCTGTTCCTGTGCAACTG	0.493																																						uc001frk.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(292-294)GGA>TGA		CD5 molecule-like precursor							232.0	237.0	235.0					1																	157805709		2203	4300	6503	SO:0001587	stop_gained	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805709C>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.292G>T	1.37:g.157805709C>A	ENSP00000357156:p.Gly98*						p.G98*	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	435	-	all_hematologic(112;0.0378)		98			SRCR 1.		A8K7M5|Q6UX63	Nonsense_Mutation	SNP	ENST00000368174.4	37	c.292G>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487040	0.63962	.	.	ENSG00000073754	ENST00000368174	.	.	.	4.68	4.68	0.58851	.	0.000000	0.46442	D	0.000287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1567	0.72749	0.0:1.0:0.0:0.0	.	.	.	.	X	98	.	ENSP00000357156:G98X	G	-	1	0	CD5L	156072333	0.998000	0.40836	0.076000	0.20297	0.005000	0.04900	5.084000	0.64462	2.419000	0.82065	0.563000	0.77884	GGA		PASS	0.493	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		52	104	52	104	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158644424	158644424	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:158644424C>A	ENST00000368147.4	-	9	1334	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	385					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.W385L(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)					CTCGTTCATCCAGCCTGAGAG	0.468																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1153-1155)TGG>TTG		spectrin, alpha, erythrocytic 1							167.0	156.0	159.0					1																	158644424		1978	4175	6153	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.chr1:158644424C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1154G>T	1.37:g.158644424C>A	ENSP00000357129:p.Trp385Leu						p.W385L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			9	1353	-	all_hematologic(112;0.0378)		385			Spectrin 5.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1154G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891879	0.91889	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.70164	-0.46;-0.46	5.04	5.04	0.67666	.	.	.	.	.	D	0.83238	0.5211	M	0.91561	3.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.86643	0.1893	9	0.87932	D	0	.	15.9402	0.79747	0.0:1.0:0.0:0.0	.	385	P02549	SPTA1_HUMAN	L	385	ENSP00000357130:W385L;ENSP00000357129:W385L	ENSP00000357129:W385L	W	-	2	0	SPTA1	156911048	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.863000	0.75489	2.630000	0.89119	0.655000	0.94253	TGG		PASS	0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	124	6	124	---	---	---	---
FCER1G	2207	broad.mit.edu	37	1	161185114	161185114	+	Start_Codon_SNP	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:161185114G>A	ENST00000289902.1	+	1	28	c.3G>A	c.(1-3)atG>atA	p.M1I	FCER1G_ENST00000367992.3_Start_Codon_SNP_p.M1I|FCER1G_ENST00000490414.1_3'UTR	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	1					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.M1I(1)		endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	AGCCCAAGATGATTCCAGCAG	0.572																																						uc001fyz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATA		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)						188.0	157.0	167.0					1																	161185114		2203	4300	6503	SO:0001582	initiator_codon_variant	2207				platelet activation	integral to plasma membrane		g.chr1:161185114G>A		CCDS1225.1	1q23	2008-02-05			ENSG00000158869	ENSG00000158869			3611	protein-coding gene	gene with protein product		147139				2138619	Standard	NM_004106		Approved		uc001fyz.1	P30273	OTTHUMG00000034343	ENST00000289902.1:c.3G>A	1.37:g.161185114G>A	ENSP00000289902:p.Met1Ile					FCER1G_uc001fza.1_Missense_Mutation_p.M1I	p.M1I	NM_004106	NP_004097	P30273	FCERG_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	28	+	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		1					Q5VTW4	Missense_Mutation	SNP	ENST00000289902.1	37	c.3G>A	CCDS1225.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341449	0.61073	.	.	ENSG00000158869	ENST00000367992;ENST00000289902	T	0.30981	1.51	5.17	5.17	0.71159	.	0.197761	0.36338	N	0.002649	T	0.30696	0.0773	.	.	.	0.80722	A	1.000000	P;P	0.45126	0.851;0.851	P;P	0.55391	0.775;0.775	T	0.02042	-1.1224	8	0.24483	T	0.36	.	14.0411	0.64676	0.0:0.0:1.0:0.0	.	1;1	A6NCQ8;P30273	.;FCERG_HUMAN	I	1	ENSP00000356971:M1I	ENSP00000289902:M1I	M	+	3	0	FCER1G	159451738	0.998000	0.40836	0.965000	0.40720	0.993000	0.82548	4.235000	0.58666	2.684000	0.91462	0.650000	0.86243	ATG		PASS	0.572	FCER1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083012.1	NM_004106	Missense_Mutation	20	58	20	58	---	---	---	---
UHMK1	127933	broad.mit.edu	37	1	162468041	162468041	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:162468041A>T	ENST00000489294.1	+	1	409	c.251A>T	c.(250-252)cAg>cTg	p.Q84L	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.Q84L|UHMK1_ENST00000545294.1_Intron	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)	p.Q84L(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAACAGTTGCAGGGTCACAGA	0.602																																						uc001gcc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(250-252)CAG>CTG		kinase interacting stathmin							24.0	25.0	24.0					1																	162468041		2203	4298	6501	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162468041A>T	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.251A>T	1.37:g.162468041A>T	ENSP00000420270:p.Gln84Leu					UHMK1_uc001gcb.1_Intron|UHMK1_uc009wuu.1_Missense_Mutation_p.Q84L	p.Q84L	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	387	+	all_hematologic(112;0.115)		84			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.251A>T	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225384	0.58668	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.21361	2.01;2.01	4.94	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.135166	0.52532	D	0.000066	T	0.05181	0.0138	N	0.12471	0.22	.	.	.	B;B	0.23650	0.072;0.089	B;B	0.28553	0.055;0.091	T	0.12708	-1.0537	9	0.59425	D	0.04	-12.7738	7.4969	0.27494	0.9052:0.0:0.0948:0.0	.	84;84	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	L	84	ENSP00000446416:Q84L;ENSP00000420270:Q84L	ENSP00000420270:Q84L	Q	+	2	0	UHMK1	160734665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.545000	0.67237	2.192000	0.70111	0.533000	0.62120	CAG		PASS	0.602	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		5	21	5	21	---	---	---	---
DDR2	4921	broad.mit.edu	37	1	162725039	162725039	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:162725039G>T	ENST00000367922.3	+	7	949	c.511G>T	c.(511-513)Gac>Tac	p.D171Y	DDR2_ENST00000367921.3_Missense_Mutation_p.D171Y	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	171	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D171Y(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCCAGTCACCGACCACTCCAT	0.478																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(511-513)GAC>TAC		discoidin domain receptor family, member 2							105.0	99.0	101.0					1																	162725039		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162725039G>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.511G>T	1.37:g.162725039G>T	ENSP00000356899:p.Asp171Tyr					DDR2_uc001gcg.2_Missense_Mutation_p.D171Y	p.D171Y	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		7	976	+	all_hematologic(112;0.115)		171			Extracellular (Potential).|F5/8 type C.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.511G>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295160	0.81025	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.98876	-5.2;-5.2	5.94	5.01	0.66863	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.044241	0.85682	D	0.000000	D	0.97626	0.9222	N	0.25332	0.735	0.49051	D	0.999743	D	0.89917	1.0	D	0.78314	0.991	D	0.97697	1.0182	8	.	.	.	.	15.7097	0.77615	0.0:0.1373:0.8627:0.0	.	171	Q16832	DDR2_HUMAN	Y	171	ENSP00000356899:D171Y;ENSP00000356898:D171Y	.	D	+	1	0	DDR2	160991663	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	5.255000	0.65462	1.483000	0.48342	0.650000	0.86243	GAC		PASS	0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		12	48	12	48	---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168260586	168260586	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:168260586T>G	ENST00000367821.3	+	2	443	c.392T>G	c.(391-393)tTt>tGt	p.F131C		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	131					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F131C(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCCCCCAACTTTGGGGCCCAC	0.602																																						uc001gfl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TTT>TGT		T-box 19							86.0	95.0	92.0					1																	168260586		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168260586T>G	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.392T>G	1.37:g.168260586T>G	ENSP00000356795:p.Phe131Cys					TBX19_uc001gfj.3_Missense_Mutation_p.F62C	p.F131C	NM_005149	NP_005140	O60806	TBX19_HUMAN			2	443	+	all_hematologic(923;0.215)		131			T-box.		Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.392T>G	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611684	0.66558	.	.	ENSG00000143178	ENST00000367821;ENST00000367828	T	0.80566	-1.39	4.99	4.99	0.66335	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.057648	0.64402	D	0.000001	D	0.88887	0.6559	M	0.87381	2.88	0.48975	D	0.999735	D;P	0.89917	1.0;0.457	D;B	0.97110	1.0;0.154	D	0.90854	0.4733	9	0.62326	D	0.03	.	14.5163	0.67821	0.0:0.0:0.0:1.0	.	131;62	O60806;B3KRD9	TBX19_HUMAN;.	C	131;71	ENSP00000356795:F131C	ENSP00000356795:F131C	F	+	2	0	TBX19	166527210	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	7.415000	0.80131	2.103000	0.63969	0.533000	0.62120	TTT		PASS	0.602	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		30	107	30	107	---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173873178	173873178	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:173873178G>T	ENST00000367698.3	-	7	1362	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	415					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A415D(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GGTACTTGCAGCTGCTTCACT	0.463																																						uc001gjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1243-1245)GCT>GAT		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						68.0	63.0	64.0					1																	173873178		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173873178G>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1244C>A	1.37:g.173873178G>T	ENSP00000356671:p.Ala415Asp						p.A415D	NM_000488	NP_000479	P01008	ANT3_HUMAN			7	1363	-			415					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.1244C>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175920	0.78564	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.85339	-1.97	5.74	5.74	0.90152	Serpin domain (3);	0.102525	0.64402	D	0.000003	D	0.93180	0.7828	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.91400	0.5142	10	0.23891	T	0.37	.	19.5507	0.95319	0.0:0.0:1.0:0.0	.	415	P01008	ANT3_HUMAN	D	415;210	ENSP00000356671:A415D	ENSP00000307953:A210D	A	-	2	0	SERPINC1	172139801	1.000000	0.71417	0.992000	0.48379	0.436000	0.31835	9.021000	0.93673	2.712000	0.92718	0.650000	0.86243	GCT		PASS	0.463	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		7	42	7	42	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175362941	175362941	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:175362941C>A	ENST00000367674.2	-	6	2039	c.1331G>T	c.(1330-1332)gGg>gTg	p.G444V	TNR_ENST00000263525.2_Missense_Mutation_p.G444V			Q92752	TENR_HUMAN	tenascin R	444	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.G444V(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GATTTCCCACCCATCGAAGGA	0.473																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1330-1332)GGG>GTG		tenascin R precursor							229.0	225.0	226.0					1																	175362941		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175362941C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1331G>T	1.37:g.175362941C>A	ENSP00000356646:p.Gly444Val					TNR_uc009wwu.1_Missense_Mutation_p.G444V|TNR_uc010pmz.1_3'UTR	p.G444V	NM_003285	NP_003276	Q92752	TENR_HUMAN			4	1412	-	Renal(580;0.146)		444			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1331G>T	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.516963|4.516963	0.85495|0.85495	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.61158|.	0.13;0.13|.	4.51|4.51	4.51|4.51	0.55191|0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71065|0.71065	0.3296|0.3296	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.70699|0.70699	-0.4800|-0.4800	10|5	0.52906|.	T|.	0.07|.	.|.	17.1817|17.1817	0.86857|0.86857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	444|.	Q92752|.	TENR_HUMAN|.	V|C	444|168	ENSP00000356646:G444V;ENSP00000263525:G444V|.	ENSP00000263525:G444V|.	G|W	-|-	2|3	0|0	TNR|TNR	173629564|173629564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.338000|7.338000	0.79269|0.79269	2.202000|2.202000	0.70862|0.70862	0.643000|0.643000	0.83706|0.83706	GGG|TGG		PASS	0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		38	195	38	195	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179966134	179966134	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:179966134A>G	ENST00000367607.3	+	6	1260	c.842A>G	c.(841-843)aAa>aGa	p.K281R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	281					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K281R(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATGATGTCAAACTGGAAAAA	0.423																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(841-843)AAA>AGA		centrosome-associated protein 350							100.0	108.0	105.0					1																	179966134		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179966134A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.842A>G	1.37:g.179966134A>G	ENSP00000356579:p.Lys281Arg					CEP350_uc001gnr.1_Missense_Mutation_p.K255R|CEP350_uc009wxl.2_Missense_Mutation_p.K280R|CEP350_uc001gnu.2_Missense_Mutation_p.K115R	p.K281R	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			6	1225	+			281					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.842A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.919712	0.92249	.	.	ENSG00000135837	ENST00000367607	T	0.18502	2.21	5.25	5.25	0.73442	.	0.000000	0.48767	D	0.000168	T	0.30230	0.0758	L	0.34521	1.04	0.51233	D	0.999918	D;D	0.76494	0.997;0.999	D;D	0.77557	0.98;0.99	T	0.02020	-1.1228	9	.	.	.	.	14.8046	0.69942	1.0:0.0:0.0:0.0	.	281;281	E7EU22;Q5VT06	.;CE350_HUMAN	R	281	ENSP00000356579:K281R	.	K	+	2	0	CEP350	178232757	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.994000	0.88315	1.986000	0.57962	0.366000	0.22137	AAA		PASS	0.423	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		30	97	30	97	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186017921	186017921	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:186017921C>T	ENST00000271588.4	+	42	6756	c.6527C>T	c.(6526-6528)gCa>gTa	p.A2176V	HMCN1_ENST00000367492.2_Missense_Mutation_p.A2176V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2176	Ig-like C2-type 19.				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.A2176V(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						ACTTGTGAAGCAACAAATGTT	0.358																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(6526-6528)GCA>GTA		hemicentin 1 precursor							100.0	102.0	101.0					1																	186017921		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186017921C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6527C>T	1.37:g.186017921C>T	ENSP00000271588:p.Ala2176Val						p.A2176V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			42	6756	+			2176			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6527C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394647	0.96009	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.72505	-0.66;-0.66	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84290	0.0499	10	0.41790	T	0.15	.	18.8405	0.92182	0.0:1.0:0.0:0.0	.	2176	Q96RW7	HMCN1_HUMAN	V	2176	ENSP00000271588:A2176V;ENSP00000356462:A2176V	ENSP00000271588:A2176V	A	+	2	0	HMCN1	184284544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.503000	0.84419	0.557000	0.71058	GCA		PASS	0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	28	17	28	---	---	---	---
TROVE2	6738	broad.mit.edu	37	1	193038725	193038725	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:193038725G>C	ENST00000367446.3	+	2	751	c.541G>C	c.(541-543)Gat>Cat	p.D181H	TROVE2_ENST00000367445.3_Missense_Mutation_p.D181H|TROVE2_ENST00000367443.1_Missense_Mutation_p.D181H|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367444.3_Missense_Mutation_p.D181H|TROVE2_ENST00000367441.1_Missense_Mutation_p.D181H|TROVE2_ENST00000400968.2_Missense_Mutation_p.D181H|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000432079.1_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	181	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)	p.D181H(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GTCTCACAAAGATCTATTAAG	0.418																																						uc001gss.2																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)GAT>CAT		TROVE domain family, member 2 isoform 2							67.0	66.0	66.0					1																	193038725		1885	4113	5998	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193038725G>C	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.541G>C	1.37:g.193038725G>C	ENSP00000356416:p.Asp181His					TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Missense_Mutation_p.D181H|TROVE2_uc001gsw.2_Missense_Mutation_p.D181H|TROVE2_uc009wyp.2_Missense_Mutation_p.D181H|TROVE2_uc009wyq.2_Missense_Mutation_p.D181H|TROVE2_uc001gsx.1_Missense_Mutation_p.D181H	p.D181H	NM_004600	NP_004591	P10155	RO60_HUMAN			2	716	+			181			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.541G>C	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460919	0.84317	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.75	5.75	0.90469	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	M	0.90542	3.125	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	T	0.74822	-0.3534	10	0.66056	D	0.02	-19.8425	19.9522	0.97203	0.0:0.0:1.0:0.0	.	181;181;181;181	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	H	181;181;181;181;181;181;122	ENSP00000383752:D181H;ENSP00000356416:D181H;ENSP00000356413:D181H;ENSP00000356415:D181H;ENSP00000356414:D181H;ENSP00000356411:D181H;ENSP00000424612:D122H	ENSP00000356411:D181H	D	+	1	0	TROVE2	191305348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.272000	0.95707	2.725000	0.93324	0.655000	0.94253	GAT		PASS	0.418	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		11	61	11	61	---	---	---	---
FAM58BP	339521	broad.mit.edu	37	1	200183337	200183337	+	IGR	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:200183337G>C								NR5A2 (36785 upstream) : RP11-532L16.3 (101225 downstream)																							CGCCGAGGTCGAGGCTGAGAA	0.562																																						uc009wzi.1																			0					0						c.(646-648)GAG>CAG		family with sequence similarity 58 member B							67.0	72.0	71.0					1																	200183337		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183337G>C																													1.37:g.200183337G>C							p.E216Q	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	682	+	Prostate(682;0.19)		216						Missense_Mutation	SNP		37	c.646G>C																																																																																				0	PASS	0.562									16	42	16	42	---	---	---	---
IKBKE	9641	broad.mit.edu	37	1	206664179	206664179	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:206664179A>G	ENST00000367120.3	+	17	2094	c.1721A>G	c.(1720-1722)cAc>cGc	p.H574R	IKBKE_ENST00000537984.1_Missense_Mutation_p.H489R	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	574	Interaction with DDX3X.				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.H574R(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)					GAGCAGATTCACAAGCTGGAT	0.557											OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(1720-1722)CAC>CGC		IKK-related kinase epsilon							115.0	102.0	106.0					1																	206664179		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.chr1:206664179A>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.1721A>G	1.37:g.206664179A>G	ENSP00000356087:p.His574Arg		OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	IKBKE_uc009xbv.1_Missense_Mutation_p.H574R|IKBKE_uc001hea.1_Missense_Mutation_p.H489R	p.H574R	NM_014002	NP_054721	Q14164	IKKE_HUMAN			17	2089	+	Breast(84;0.137)		574					D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.1721A>G	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179849	0.78564	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.15952	2.38;2.38	5.61	5.61	0.85477	.	0.110976	0.64402	D	0.000010	T	0.37517	0.1006	M	0.64997	1.995	0.38949	D	0.958307	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.16837	-1.0389	10	0.42905	T	0.14	-0.0259	12.1882	0.54252	1.0:0.0:0.0:0.0	.	489;574	Q3B754;Q14164	.;IKKE_HUMAN	R	574;489	ENSP00000356087:H574R;ENSP00000444529:H489R	ENSP00000356087:H574R	H	+	2	0	IKBKE	204730802	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.829000	0.62737	2.146000	0.66826	0.533000	0.62120	CAC		PASS	0.557	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			12	33	12	33	---	---	---	---
CD34	947	broad.mit.edu	37	1	208072428	208072428	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:208072428G>A	ENST00000310833.7	-	3	727	c.406C>T	c.(406-408)Cct>Tct	p.P136S	CD34_ENST00000356522.4_Missense_Mutation_p.P136S|CD34_ENST00000537704.1_Intron|CD34_ENST00000485761.1_5'UTR	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	136					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)	p.P136S(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GACAGGCTAGGCTTCAAGGTT	0.463																																						uc001hgw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(406-408)CCT>TCT		CD34 antigen isoform a							296.0	277.0	283.0					1																	208072428		2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208072428G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.406C>T	1.37:g.208072428G>A	ENSP00000310036:p.Pro136Ser					CD34_uc001hgx.1_Missense_Mutation_p.P136S|CD34_uc010psj.1_Intron	p.P136S	NM_001025109	NP_001020280	P28906	CD34_HUMAN			3	664	-			136			Extracellular (Potential).		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.406C>T	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	G	4.551	0.102296	0.08731	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367037	T;T	0.10099	2.91;2.91	4.01	-4.99	0.03010	.	1.043410	0.07518	N	0.910113	T	0.04634	0.0126	N	0.11560	0.145	0.22001	N	0.999424	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.002	T	0.42292	-0.9460	10	0.33141	T	0.24	-2.5755	4.7629	0.13116	0.2418:0.0:0.3113:0.4469	.	136;136	P28906-2;P28906	.;CD34_HUMAN	S	136;136;106	ENSP00000310036:P136S;ENSP00000348916:P136S	ENSP00000310036:P136S	P	-	1	0	CD34	206139051	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.640000	0.02009	-1.139000	0.02881	-2.614000	0.00158	CCT		PASS	0.463	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		5	177	5	177	---	---	---	---
ANGEL2	90806	broad.mit.edu	37	1	213186487	213186487	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:213186487G>A	ENST00000366962.3	-	2	487	c.333C>T	c.(331-333)taC>taT	p.Y111Y	ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	111								p.Y111Y(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CGTTCATGACGTAACTAGAGA	0.428																																						uc001hjz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(331-333)TAC>TAT		LOC90806 protein							138.0	135.0	136.0					1																	213186487		2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213186487G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.333C>T	1.37:g.213186487G>A						ANGEL2_uc010pto.1_Intron|ANGEL2_uc010ptp.1_Intron|ANGEL2_uc001hka.2_Intron|ANGEL2_uc010ptq.1_Intron|ANGEL2_uc001hkb.2_Silent_p.Y89Y	p.Y111Y	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	2	488	-			111					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.333C>T	CCDS1512.1																																																																																				PASS	0.428	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		22	68	22	68	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216850613	216850613	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:216850613C>A	ENST00000408911.3	-	2	430	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	ESRRG_ENST00000359162.2_Missense_Mutation_p.G70C|ESRRG_ENST00000493748.1_Missense_Mutation_p.G70C|ESRRG_ENST00000493603.1_Missense_Mutation_p.G70C|ESRRG_ENST00000360012.3_Missense_Mutation_p.G70C|ESRRG_ENST00000463665.1_Missense_Mutation_p.G70C|ESRRG_ENST00000366938.2_Missense_Mutation_p.G70C|ESRRG_ENST00000366940.2_Missense_Mutation_p.G70C|ESRRG_ENST00000361395.2_Missense_Mutation_p.G70C|ESRRG_ENST00000361525.3_Missense_Mutation_p.G70C|ESRRG_ENST00000487276.1_Missense_Mutation_p.G70C|ESRRG_ENST00000391890.3_Missense_Mutation_p.G70C|ESRRG_ENST00000366937.1_Missense_Mutation_p.G98C	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	93					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G93C(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GGCCCACTACCTCCCAGGATA	0.527																																						uc001hkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(277-279)GGT>TGT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						187.0	165.0	172.0					1																	216850613		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850613C>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.277G>T	1.37:g.216850613C>A	ENSP00000386171:p.Gly93Cys					ESRRG_uc001hky.1_Missense_Mutation_p.G70C|ESRRG_uc009xdp.1_Missense_Mutation_p.G70C|ESRRG_uc001hkz.1_Missense_Mutation_p.G70C|ESRRG_uc010puc.1_Missense_Mutation_p.G70C|ESRRG_uc001hla.1_Missense_Mutation_p.G70C|ESRRG_uc001hlb.1_Missense_Mutation_p.G70C|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.G70C|ESRRG_uc001hld.1_Missense_Mutation_p.G70C|ESRRG_uc001hkx.1_Missense_Mutation_p.G98C|ESRRG_uc009xdo.1_Missense_Mutation_p.G70C|ESRRG_uc001hle.1_Missense_Mutation_p.G70C	p.G93C	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	443	-			93					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.277G>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313497	0.60414	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.95171	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.27;-3.63;-3.24;-3.24;-3.06;0.65	6.16	6.16	0.99307	.	0.192310	0.56097	D	0.000039	D	0.94029	0.8087	L	0.46157	1.445	0.50039	D	0.999844	P;P;P	0.48407	0.836;0.91;0.698	B;P;B	0.46758	0.376;0.526;0.161	D	0.92473	0.5987	10	0.36615	T	0.2	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	70;98;93	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	C	70;70;98;93;70;70;70;70;70;70;70;70;70;70;70;70	ENSP00000355225:G70C;ENSP00000355907:G70C;ENSP00000355904:G98C;ENSP00000386171:G93C;ENSP00000352077:G70C;ENSP00000354584:G70C;ENSP00000355905:G70C;ENSP00000353108:G70C;ENSP00000419594:G70C;ENSP00000375761:G70C;ENSP00000418629:G70C;ENSP00000419155:G70C;ENSP00000417374:G70C;ENSP00000419514:G70C;ENSP00000417900:G70C	ENSP00000346386:G70C	G	-	1	0	ESRRG	214917236	0.998000	0.40836	0.992000	0.48379	0.987000	0.75469	3.777000	0.55364	2.937000	0.99478	0.650000	0.86243	GGT		PASS	0.527	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		16	62	16	62	---	---	---	---
RRP15	51018	broad.mit.edu	37	1	218480911	218480911	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:218480911G>T	ENST00000366932.3	+	4	672	c.642G>T	c.(640-642)ttG>ttT	p.L214F		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	214						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L214F(2)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		TCAGTGTTTTGAGAGGGATGG	0.368																																						uc001hlj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(640-642)TTG>TTT		ribosomal RNA processing 15 homolog							109.0	106.0	107.0					1																	218480911		2203	4300	6503	SO:0001583	missense	51018					mitochondrion|nucleolus	protein binding	g.chr1:218480911G>T		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.642G>T	1.37:g.218480911G>T	ENSP00000355899:p.Leu214Phe						p.L214F	NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	4	672	+			214						Missense_Mutation	SNP	ENST00000366932.3	37	c.642G>T	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647919	0.67358	.	.	ENSG00000067533	ENST00000366932	T	0.55760	0.5	5.87	-5.16	0.02857	.	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	M	0.90759	3.145	0.38352	D	0.944351	D	0.89917	1.0	D	0.97110	1.0	T	0.68096	-0.5499	10	0.46703	T	0.11	.	6.3652	0.21451	0.1169:0.4508:0.2711:0.1611	.	214	Q9Y3B9	RRP15_HUMAN	F	214	ENSP00000355899:L214F	ENSP00000355899:L214F	L	+	3	2	RRP15	216547534	0.041000	0.20044	0.526000	0.27913	0.988000	0.76386	-0.804000	0.04535	-0.694000	0.05113	0.655000	0.94253	TTG		PASS	0.368	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		13	36	13	36	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229568773	229568773	+	Missense_Mutation	SNP	C	C	A	rs113546590		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:229568773C>A	ENST00000366684.3	-	2	192	c.90G>T	c.(88-90)agG>agT	p.R30S	ACTA1_ENST00000366683.2_Missense_Mutation_p.R30S	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	30					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.R30I(1)|p.R30S(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GGAACACGGCCCTAGGGGCGT	0.692																																						uc001htm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(88-90)AGG>AGT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						33.0	36.0	35.0					1																	229568773		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568773C>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.90G>T	1.37:g.229568773C>A	ENSP00000355645:p.Arg30Ser						p.R30S	NM_001100	NP_001091	P68133	ACTS_HUMAN			2	195	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	30					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.90G>T	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685158	0.29872	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.94828	-3.53;-3.53	4.67	3.75	0.43078	.	0.000000	0.85682	D	0.000000	D	0.96112	0.8733	M	0.80508	2.5	0.28092	N	0.931748	D	0.53312	0.959	D	0.73708	0.981	D	0.90892	0.4762	10	0.87932	D	0	.	4.1389	0.10184	0.186:0.6238:0.0:0.1902	.	30	P68133	ACTS_HUMAN	S	30	ENSP00000355645:R30S;ENSP00000355644:R30S	ENSP00000312351:R30S	R	-	3	2	ACTA1	227635396	0.476000	0.25901	1.000000	0.80357	0.544000	0.35116	-0.163000	0.09997	1.172000	0.42781	0.655000	0.94253	AGG		PASS	0.692	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		7	29	7	29	---	---	---	---
COG2	22796	broad.mit.edu	37	1	230827305	230827305	+	Nonsense_Mutation	SNP	G	G	T	rs140155560		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:230827305G>T	ENST00000366669.4	+	17	2225	c.2110G>T	c.(2110-2112)Gag>Tag	p.E704*	COG2_ENST00000534989.1_Nonsense_Mutation_p.E645*|COG2_ENST00000366668.3_Nonsense_Mutation_p.E703*|COG2_ENST00000535166.1_Nonsense_Mutation_p.E588*|COG2_ENST00000546013.1_Nonsense_Mutation_p.E393*	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	704					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.E704*(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTACTTGGGAGAGCAGGTAAC	0.587																																						uc001htw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2110-2112)GAG>TAG		component of oligomeric golgi complex 2 isoform							71.0	69.0	69.0					1																	230827305		2203	4300	6503	SO:0001587	stop_gained	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230827305G>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.2110G>T	1.37:g.230827305G>T	ENSP00000355629:p.Glu704*					COG2_uc001htx.2_Nonsense_Mutation_p.E703*|COG2_uc010pwc.1_Nonsense_Mutation_p.E577*	p.E704*	NM_007357	NP_031383	Q14746	COG2_HUMAN			17	2261	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	704					Q86U99	Nonsense_Mutation	SNP	ENST00000366669.4	37	c.2110G>T	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	37	6.315467	0.97467	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	.	.	.	5.59	5.59	0.84812	.	0.088914	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-19.9649	13.4999	0.61447	0.0753:0.0:0.9247:0.0	.	.	.	.	X	704;588;703;645;393	.	ENSP00000355628:E703X	E	+	1	0	COG2	228893928	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	5.409000	0.66374	2.648000	0.89879	0.561000	0.74099	GAG		PASS	0.587	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		10	42	10	42	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525700	248525700	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:248525700G>T	ENST00000366475.1	+	1	818	c.818G>T	c.(817-819)tGc>tTc	p.C273F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C273F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTGCCACCTGCTCCTCCCAC	0.542																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(817-819)TGC>TTC		olfactory receptor, family 2, subfamily T,							138.0	135.0	136.0					1																	248525700		2203	4298	6501	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525700G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.818G>T	1.37:g.248525700G>T	ENSP00000355431:p.Cys273Phe						p.C273F	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	818	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		273			Helical; Name=6; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.818G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572419	0.28092	.	.	ENSG00000196944	ENST00000366475	T	0.00368	7.75	3.0	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.01353	0.0044	H	0.95437	3.67	0.28470	N	0.915486	D	0.89917	1.0	D	0.83275	0.996	T	0.06075	-1.0847	10	0.87932	D	0	.	10.7682	0.46305	0.0:0.0:0.808:0.192	.	273	Q8NH00	OR2T4_HUMAN	F	273	ENSP00000355431:C273F	ENSP00000355431:C273F	C	+	2	0	OR2T4	246592323	1.000000	0.71417	0.176000	0.23000	0.338000	0.28826	3.736000	0.55052	0.436000	0.26393	0.585000	0.79938	TGC		PASS	0.542	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		15	98	15	98	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685656	248685656	+	Missense_Mutation	SNP	G	G	A	rs147303796		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr1:248685656G>A	ENST00000343414.4	+	1	741	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCGCCAAAAGGCCTTTGGGAC	0.453																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(709-711)GCC>ACC		olfactory receptor, family 2, subfamily G,							106.0	108.0	107.0					1																	248685656		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685656G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.709G>A	1.37:g.248685656G>A	ENSP00000341291:p.Ala237Thr						p.A237T	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	709	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	237			Helical; Name=6; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.709G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	16.47	3.131690	0.56828	.	.	ENSG00000188558	ENST00000343414	T	0.00357	7.89	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.324362	0.21723	U	0.070099	T	0.00724	0.0024	M	0.78637	2.42	0.27912	N	0.938571	D	0.63046	0.992	D	0.63381	0.914	T	0.40496	-0.9560	10	0.72032	D	0.01	.	14.6536	0.68817	0.0:0.0:1.0:0.0	.	237	Q5TZ20	OR2G6_HUMAN	T	237	ENSP00000341291:A237T	ENSP00000341291:A237T	A	+	1	0	OR2G6	246752279	0.662000	0.27439	0.090000	0.20809	0.413000	0.31143	2.533000	0.45667	1.964000	0.57103	0.400000	0.26472	GCC		PASS	0.453	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		10	50	10	50	---	---	---	---
ACP1	52	broad.mit.edu	37	2	277020	277020	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:277020G>C	ENST00000272065.5	+	5	427	c.334G>C	c.(334-336)Gct>Cct	p.A112P	ACP1_ENST00000272067.6_Missense_Mutation_p.A112P|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	112						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.A112P(2)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	AACCTGCAAAGCTAAAATTGA	0.308																																						uc002qwg.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(334-336)GCT>CCT		acid phosphatase 1, soluble isoform b							65.0	67.0	66.0					2																	277020		2203	4300	6503	SO:0001583	missense	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:277020G>C	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.334G>C	2.37:g.277020G>C	ENSP00000272065:p.Ala112Pro					ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Missense_Mutation_p.A112P	p.A112P	NM_007099	NP_009030	P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	5	430	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	112					A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	c.334G>C	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798396	0.90538	.	.	ENSG00000143727	ENST00000272067;ENST00000272065	T;T	0.18502	2.21;2.21	5.48	5.48	0.80851	Phosphotyrosine protein phosphatase I superfamily (3);	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.26258	-1.0108	10	0.62326	D	0.03	-8.0921	16.8465	0.85982	0.0:0.0:1.0:0.0	.	112;112	P24666-2;P24666	.;PPAC_HUMAN	P	112	ENSP00000272067:A112P;ENSP00000272065:A112P	ENSP00000272065:A112P	A	+	1	0	ACP1	267020	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.190000	0.77755	2.564000	0.86499	0.655000	0.94253	GCT		PASS	0.308	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			17	33	17	33	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15519752	15519752	+	Silent	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:15519752G>C	ENST00000281513.5	-	30	3589	c.3564C>G	c.(3562-3564)ctC>ctG	p.L1188L	NBAS_ENST00000441750.1_Silent_p.L1068L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1188					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.L1188L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCTATCAGTGAGGTTGGTAG	0.428																																						uc002rcc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(3562-3564)CTC>CTG		neuroblastoma-amplified protein							101.0	100.0	100.0					2																	15519752		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15519752G>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3564C>G	2.37:g.15519752G>C						NBAS_uc010exl.1_Silent_p.L260L|NBAS_uc002rcd.1_RNA	p.L1188L	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			30	3590	-			1188					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.3564C>G	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	8.372	0.835540	0.16820	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.79	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3004	0.04161	0.2326:0.218:0.4423:0.1071	.	.	.	.	X	236	.	.	S	-	2	0	NBAS	15437203	0.980000	0.34600	0.990000	0.47175	0.942000	0.58702	0.134000	0.15932	0.812000	0.34326	-0.244000	0.11960	TCA		PASS	0.428	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		9	71	9	71	---	---	---	---
FAM179A	165186	broad.mit.edu	37	2	29240096	29240096	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:29240096G>T	ENST00000379558.4	+	9	1472	c.1121G>T	c.(1120-1122)aGg>aTg	p.R374M	FAM179A_ENST00000403861.2_Missense_Mutation_p.R374M|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	374								p.R374M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGCTTCGGAGGCTGGAGGAG	0.582																																						uc010ezl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1120-1122)AGG>ATG		hypothetical protein LOC165186							76.0	81.0	79.0					2																	29240096		1999	4182	6181	SO:0001583	missense	165186						binding	g.chr2:29240096G>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1121G>T	2.37:g.29240096G>T	ENSP00000368876:p.Arg374Met					FAM179A_uc010ymm.1_Missense_Mutation_p.R374M|FAM179A_uc002rmr.3_Intron	p.R374M	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			9	1472	+			374					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1121G>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642736	0.47153	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.15017	2.46;2.58	4.84	3.7	0.42460	.	.	.	.	.	T	0.26738	0.0654	L	0.34521	1.04	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.68192	0.951;0.956	T	0.03981	-1.0987	9	0.52906	T	0.07	.	8.6285	0.33904	0.215:0.0:0.785:0.0	.	374;374	F8W8E4;Q6ZUX3	.;F179A_HUMAN	M	374	ENSP00000368876:R374M;ENSP00000384699:R374M	ENSP00000368876:R374M	R	+	2	0	FAM179A	29093600	0.101000	0.21875	0.098000	0.21074	0.008000	0.06430	1.627000	0.37050	2.382000	0.81193	0.655000	0.94253	AGG		PASS	0.582	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		11	82	11	82	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50280591	50280591	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:50280591C>T	ENST00000406316.2	-	20	5332	c.3856G>A	c.(3856-3858)Gcc>Acc	p.A1286T	NRXN1_ENST00000402717.3_Missense_Mutation_p.A1308T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1316T|NRXN1_ENST00000404971.1_Missense_Mutation_p.A1356T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A251T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A304T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1286T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1308T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1286	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A1286T(1)|p.A1356T(1)|p.A251T(1)|p.A1357T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGATGTTGGCATCGTTTTCG	0.512																																						uc010fbp.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(751-753)GCC>ACC		neurexin 1 isoform beta precursor							128.0	109.0	116.0					2																	50280591		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50280591C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3856G>A	2.37:g.50280591C>T	ENSP00000384311:p.Ala1286Thr					NRXN1_uc002rxb.3_Missense_Mutation_p.A988T|NRXN1_uc010fbq.2_Missense_Mutation_p.A1356T|NRXN1_uc002rxe.3_Missense_Mutation_p.A1286T	p.A251T	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		4	1558	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	251			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.751G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563598	0.65651	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.70399	1.02;2.21;0.23;0.18;-0.48;-0.37;-0.08;0.04	5.65	5.65	0.86999	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.113799	0.35378	U	0.003258	T	0.59046	0.2165	N	0.19112	0.55	0.33934	D	0.642431	B;B;B;B	0.15930	0.002;0.011;0.015;0.009	B;B;B;B	0.20184	0.008;0.005;0.028;0.012	T	0.65833	-0.6072	10	0.62326	D	0.03	.	15.2303	0.73383	0.0:0.8599:0.1401:0.0	.	1356;251;1286;1308	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	T	251;205;304;1356;1286;1308;1316;1357;1308;1286	ENSP00000341184:A251T;ENSP00000385580:A304T;ENSP00000385142:A1356T;ENSP00000384311:A1286T;ENSP00000434015:A1308T;ENSP00000385017:A1316T;ENSP00000385434:A1308T;ENSP00000385681:A1286T	ENSP00000341184:A251T	A	-	1	0	NRXN1	50134095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.379000	0.66196	2.663000	0.90544	0.655000	0.94253	GCC		PASS	0.512	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	33	5	33	---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56097912	56097912	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:56097912G>A	ENST00000394555.2	-	10	1698	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	EFEMP1_ENST00000394554.1_Silent_p.N421N|EFEMP1_ENST00000424836.2_Silent_p.N283N|EFEMP1_ENST00000355426.3_Silent_p.N421N	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	421	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.N421N(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATTGATGGTGTTGGCATAAA	0.413																																					GBM(92;934 1319 7714 28760 40110)	uc002rzh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1261-1263)AAC>AAT		EGF-containing fibulin-like extracellular matrix							123.0	118.0	120.0					2																	56097912		2203	4300	6503	SO:0001819	synonymous_variant	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56097912G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1263C>T	2.37:g.56097912G>A						EFEMP1_uc002rzi.2_Silent_p.N421N|EFEMP1_uc002rzj.2_Silent_p.N421N|EFEMP1_uc010ypc.1_Silent_p.N283N	p.N421N	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		10	1593	-			421			Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	37	c.1263C>T	CCDS1857.1																																																																																				PASS	0.413	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			7	62	7	62	---	---	---	---
COMMD1	150684	broad.mit.edu	37	2	62228088	62228088	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:62228088A>G	ENST00000311832.5	+	2	465	c.433A>G	c.(433-435)Ata>Gta	p.I145V	COMMD1_ENST00000472729.1_3'UTR|COMMD1_ENST00000538736.1_Missense_Mutation_p.I145V	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	145	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.I145V(1)		large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			TGTTGCCATTATAGAGCTGGA	0.448																																						uc002sbp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)ATA>GTA		MURR1							64.0	66.0	66.0					2																	62228088		2203	4300	6503	SO:0001583	missense	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62228088A>G	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.433A>G	2.37:g.62228088A>G	ENSP00000308236:p.Ile145Val					COMMD1_uc002sbq.1_RNA	p.I145V	NM_152516	NP_689729	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		2	444	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		145			COMM.		B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	c.433A>G	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	A	2.139	-0.397151	0.04899	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.09445	2.98;2.98	5.88	2.63	0.31362	COMM domain (1);	0.316221	0.34555	N	0.003863	T	0.02230	0.0069	N	0.00521	-1.4	0.23841	N	0.996693	B	0.02656	0.0	B	0.04013	0.001	T	0.46428	-0.9192	10	0.02654	T	1	.	8.1518	0.31145	0.2959:0.0:0.7041:0.0	.	145	Q8N668	COMD1_HUMAN	V	145	ENSP00000308236:I145V;ENSP00000438961:I145V	ENSP00000308236:I145V	I	+	1	0	COMMD1	62081592	0.996000	0.38824	0.975000	0.42487	0.969000	0.65631	1.042000	0.30303	0.182000	0.20032	0.378000	0.23410	ATA		PASS	0.448	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		19	50	19	50	---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109513383	109513383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:109513383G>A	ENST00000258443.2	-	12	1757	c.1327C>T	c.(1327-1329)Cag>Tag	p.Q443*	EDAR_ENST00000376651.1_Nonsense_Mutation_p.Q475*|EDAR_ENST00000409271.1_Nonsense_Mutation_p.Q475*	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	443					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Q443*(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCATGTGGCTGGGAGGCAGGT	0.582																																						uc002teq.3																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1327-1329)CAG>TAG		ectodysplasin A receptor precursor							45.0	38.0	40.0					2																	109513383		2203	4300	6503	SO:0001587	stop_gained	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109513383G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1327C>T	2.37:g.109513383G>A	ENSP00000258443:p.Gln443*					EDAR_uc010fjn.2_Nonsense_Mutation_p.Q475*|EDAR_uc010yws.1_Nonsense_Mutation_p.Q475*	p.Q443*	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN			12	1758	-			443			Cytoplasmic (Potential).		B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Nonsense_Mutation	SNP	ENST00000258443.2	37	c.1327C>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	37	6.368124	0.97511	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	.	.	.	5.21	5.21	0.72293	.	1.034950	0.07659	N	0.933379	.	.	.	.	.	.	0.33429	D	0.580825	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.605	9.4653	0.38809	0.0:0.1971:0.6679:0.1349	.	.	.	.	X	475;443;475	.	ENSP00000258443:Q443X	Q	-	1	0	EDAR	108879815	0.998000	0.40836	0.350000	0.25708	0.017000	0.09413	3.444000	0.52914	2.433000	0.82419	0.650000	0.86243	CAG		PASS	0.582	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			6	6	6	6	---	---	---	---
CBWD2	150472	broad.mit.edu	37	2	114195465	114195465	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:114195465C>G	ENST00000259199.4	+	1	198	c.20C>G	c.(19-21)tCt>tGt	p.S7C	CBWD2_ENST00000433343.2_5'UTR|CBWD2_ENST00000416503.2_Missense_Mutation_p.S7C|RP11-480C16.1_ENST00000608834.1_lincRNA	NM_172003.3	NP_742000.1	Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	7							ATP binding (GO:0005524)	p.S7C(1)		endometrium(1)|lung(1)	2						GCTGTTGGATCTGCGGATGAG	0.632																																						uc002tju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)TCT>TGT		COBW domain-containing protein 2							44.0	51.0	49.0					2																	114195465		2149	4230	6379	SO:0001583	missense	150472						ATP binding|protein binding	g.chr2:114195465C>G	AF452722	CCDS2116.1	2q14.1	2005-08-22			ENSG00000136682	ENSG00000136682			17907	protein-coding gene	gene with protein product		611079				12421752, 15233989	Standard	NM_172003		Approved		uc002tju.3	Q8IUF1	OTTHUMG00000131360	ENST00000259199.4:c.20C>G	2.37:g.114195465C>G	ENSP00000259199:p.Ser7Cys					CBWD2_uc002tjt.2_Missense_Mutation_p.S7C|CBWD2_uc010yxw.1_Translation_Start_Site|CBWD2_uc002tjv.2_Translation_Start_Site|CBWD2_uc010fkv.2_RNA	p.S7C	NM_172003	NP_742000	Q8IUF1	CBWD2_HUMAN			1	198	+			7					Q0VAN3	Missense_Mutation	SNP	ENST00000259199.4	37	c.20C>G	CCDS2116.1	.	.	.	.	.	.	.	.	.	.	.	10.69	1.422131	0.25639	.	.	ENSG00000136682	ENST00000259199;ENST00000376448;ENST00000448780;ENST00000416503	T;T	0.08896	3.04;3.05	2.85	2.85	0.33270	.	1.055870	0.07370	N	0.885685	T	0.05547	0.0146	N	0.08118	0	0.25641	N	0.986204	B	0.02656	0.0	B	0.04013	0.001	T	0.26224	-1.0109	10	0.72032	D	0.01	-11.1137	9.3401	0.38074	0.0:1.0:0.0:0.0	.	7	Q8IUF1	CBWD2_HUMAN	C	7	ENSP00000259199:S7C;ENSP00000411906:S7C	ENSP00000259199:S7C	S	+	2	0	CBWD2	113911935	0.000000	0.05858	0.003000	0.11579	0.158000	0.22134	-0.030000	0.12308	1.617000	0.50277	0.398000	0.26397	TCT		PASS	0.632	CBWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254149.3	NM_172003		6	22	6	22	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	115200401	115200401	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:115200401T>A	ENST00000410059.1	+	1	526	c.46T>A	c.(46-48)Tca>Aca	p.S16T		NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	16	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.S16T(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTGTCAACCCTCAAAAACAAT	0.468																																						uc002tla.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(46-48)TCA>ACA		dipeptidyl peptidase 10 isoform long							168.0	166.0	167.0					2																	115200401		2011	4196	6207	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:115200401T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.46T>A	2.37:g.115200401T>A	ENSP00000386565:p.Ser16Thr						p.S16T	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			1	503	+			16			Mediates effects on KCND2.|Cytoplasmic (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.46T>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	0.472	-0.884013	0.02530	.	.	ENSG00000175497	ENST00000410059	T	0.17213	2.29	5.38	-0.157	0.13387	.	.	.	.	.	T	0.08582	0.0213	N	0.14661	0.345	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.21109	-1.0255	9	0.35671	T	0.21	.	7.1877	0.25809	0.1473:0.0:0.4579:0.3947	.	16	Q8N608	DPP10_HUMAN	T	16	ENSP00000386565:S16T	ENSP00000386565:S16T	S	+	1	0	DPP10	114916871	0.418000	0.25440	0.692000	0.30179	0.963000	0.63663	1.020000	0.30027	-0.147000	0.11254	-0.313000	0.08912	TCA		PASS	0.468	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		11	46	11	46	---	---	---	---
CCDC93	54520	broad.mit.edu	37	2	118715998	118715998	+	Silent	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:118715998G>C	ENST00000376300.2	-	12	1085	c.948C>G	c.(946-948)cgC>cgG	p.R316R	CCDC93_ENST00000319432.5_Silent_p.R315R|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	316								p.R316R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TGACTTTCCGGCGATGTAGCT	0.403																																						uc002tlj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(946-948)CGC>CGG		coiled-coil domain containing 93							123.0	107.0	113.0					2																	118715998		2203	4300	6503	SO:0001819	synonymous_variant	54520							g.chr2:118715998G>C	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.948C>G	2.37:g.118715998G>C						CCDC93_uc010fld.1_Silent_p.R316R	p.R316R	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			12	1074	-			316			Potential.		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Silent	SNP	ENST00000376300.2	37	c.948C>G	CCDS2121.2																																																																																				PASS	0.403	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		7	30	7	30	---	---	---	---
CFAP221	200373	broad.mit.edu	37	2	120383210	120383210	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:120383210G>T	ENST00000413369.3	+	15	1549	c.1462G>T	c.(1462-1464)Gac>Tac	p.D488Y	PCDP1_ENST00000602047.1_Missense_Mutation_p.D202Y|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978												p.D202Y(1)				Colorectal(110;0.196)					TCGTGAAATGGACAAAGAGAG	0.413																																						uc002tmb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)GAC>TAC		primary ciliary dyskinesia protein 1							153.0	137.0	143.0					2																	120383210		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120383210G>T																												ENST00000413369.3:c.1462G>T	2.37:g.120383210G>T	ENSP00000393222:p.Asp488Tyr					PCDP1_uc010yyq.1_Missense_Mutation_p.D332Y	p.D202Y	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			16	1696	+	Colorectal(110;0.196)		488						Missense_Mutation	SNP	ENST00000413369.3	37	c.604G>T	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.42|13.42	2.231284|2.231284	0.39399|0.39399	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000295220;ENST00000413369|ENST00000443972;ENST00000413057	T|.	0.32753|.	1.44|.	4.45|4.45	1.66|1.66	0.24008|0.24008	.|.	0.691587|.	0.13824|.	N|.	0.360174|.	T|T	0.27349|0.27349	0.0671|0.0671	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	D;D|.	0.59767|.	0.969;0.986|.	P;P|.	0.54100|.	0.655;0.742|.	T|T	0.21381|0.21381	-1.0247|-1.0247	10|5	0.46703|.	T|.	0.11|.	-2.3656|-2.3656	4.5047|4.5047	0.11881|0.11881	0.2032:0.2:0.5968:0.0|0.2032:0.2:0.5968:0.0	.|.	332;488|.	Q4G0U5-3;Q4G0U5|.	.;PCDP1_HUMAN|.	Y|C	202;488|46;35	ENSP00000393222:D488Y|.	ENSP00000295220:D202Y|.	D|W	+|+	1|3	0|0	AC069154.2|AC069154.2	120099680|120099680	0.555000|0.555000	0.26530|0.26530	0.000000|0.000000	0.03702|0.03702	0.065000|0.065000	0.16274|0.16274	1.227000|1.227000	0.32576|0.32576	0.372000|0.372000	0.24591|0.24591	0.655000|0.655000	0.94253|0.94253	GAC|TGG		PASS	0.413	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			5	38	5	38	---	---	---	---
NIFK	84365	broad.mit.edu	37	2	122485356	122485356	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:122485356C>G	ENST00000285814.4	-	7	898	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		276					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E276Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						GTTTGAGTCTCTTGTATTTCT	0.318																																						uc002tnk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)GAG>CAG		MKI67 interacting nucleolar phosphoprotein							118.0	121.0	120.0					2																	122485356		2203	4299	6502	SO:0001583	missense	84365				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122485356C>G																												ENST00000285814.4:c.826G>C	2.37:g.122485356C>G	ENSP00000285814:p.Glu276Gln					uc002tnj.1_Intron	p.E276Q	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN			7	903	-			276					A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.826G>C	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422279	0.25639	.	.	ENSG00000155438	ENST00000285814;ENST00000423105	T	0.16897	2.31	5.3	0.0379	0.14198	.	1.074070	0.07030	N	0.828226	T	0.13500	0.0327	L	0.47716	1.5	0.25935	N	0.982949	B	0.24258	0.1	B	0.26864	0.074	T	0.40136	-0.9579	10	0.35671	T	0.21	-12.3274	0.9603	0.01394	0.1588:0.4023:0.1549:0.284	.	276	Q9BYG3	MK67I_HUMAN	Q	276;85	ENSP00000285814:E276Q	ENSP00000285814:E276Q	E	-	1	0	MKI67IP	122201826	0.257000	0.24022	0.843000	0.33291	0.906000	0.53458	0.280000	0.18790	0.306000	0.22856	-1.090000	0.02178	GAG		PASS	0.318	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			5	55	5	55	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125547543	125547543	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:125547543G>A	ENST00000431078.1	+	18	3178	c.2814G>A	c.(2812-2814)caG>caA	p.Q938Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	938	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Q938Q(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)		TGAATGGACAGAAAATGGACC	0.522																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(2812-2814)CAG>CAA		contactin associated protein-like 5 precursor							65.0	66.0	66.0					2																	125547543		2062	4217	6279	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547543G>A	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.2814G>A	2.37:g.125547543G>A						CNTNAP5_uc010flu.2_Silent_p.Q939Q	p.Q938Q	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3178	+			938			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2814G>A	CCDS46401.1																																																																																				PASS	0.522	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			15	63	15	63	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128775348	128775348	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:128775348T>A	ENST00000259235.3	-	3	461	c.332A>T	c.(331-333)cAt>cTt	p.H111L	SAP130_ENST00000357702.5_Missense_Mutation_p.H111L|SAP130_ENST00000259234.6_Missense_Mutation_p.H85L	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	111					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.H111L(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGCGACAGCATGGTGTGTCGA	0.567																																						uc002tpp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(331-333)CAT>CTT		Sin3A-associated protein, 130kDa isoform b							143.0	121.0	128.0					2																	128775348		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128775348T>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.332A>T	2.37:g.128775348T>A	ENSP00000259235:p.His111Leu					SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.H111L|SAP130_uc002tpq.1_Missense_Mutation_p.H85L	p.H111L	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	3	464	-	Colorectal(110;0.1)		111					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.332A>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633585	0.87660	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.95	5.95	0.96441	.	0.115496	0.64402	D	0.000011	T	0.46560	0.1399	N	0.14661	0.345	0.80722	D	1	P;D;P	0.56035	0.903;0.974;0.902	B;P;P	0.51701	0.406;0.669;0.677	T	0.42207	-0.9465	9	0.28530	T	0.3	-18.0622	14.9769	0.71281	0.0:0.0:0.0:1.0	.	111;85;111	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	L	111;111;85;85;85	.	ENSP00000259234:H85L	H	-	2	0	SAP130	128491818	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.271000	0.78506	2.266000	0.75297	0.528000	0.53228	CAT		PASS	0.567	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		18	41	18	41	---	---	---	---
HS6ST1	9394	broad.mit.edu	37	2	129026380	129026380	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:129026380C>A	ENST00000259241.6	-	2	605	c.592G>T	c.(592-594)Gtg>Ttg	p.V198L		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	198					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.V198L(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCCCTCTGCACATGCCGCCAC	0.637																																						uc002tpt.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(592-594)GTG>TTG		heparan sulfate 6-O-sulfotransferase 1							32.0	36.0	34.0					2																	129026380		2091	4180	6271	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026380C>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.592G>T	2.37:g.129026380C>A	ENSP00000259241:p.Val198Leu						p.V198L	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	626	-	Colorectal(110;0.1)		198			Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.592G>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698201	0.88830	.	.	ENSG00000136720	ENST00000259241	T	0.74632	-0.86	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	M	0.78916	2.43	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	D	0.87050	0.2146	9	.	.	.	.	17.9666	0.89101	0.0:1.0:0.0:0.0	.	198	O60243	H6ST1_HUMAN	L	198	ENSP00000259241:V198L	.	V	-	1	0	HS6ST1	128742850	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.487000	0.81328	2.235000	0.73313	0.462000	0.41574	GTG		PASS	0.637	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		4	23	4	23	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141110606	141110606	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:141110606G>A	ENST00000389484.3	-	76	12537	c.11566C>T	c.(11566-11568)Cat>Tat	p.H3856Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3856	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.H3856Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATACATTGATGGGAACATGTG	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11566-11568)CAT>TAT		low density lipoprotein-related protein 1B							149.0	147.0	148.0					2																	141110606		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141110606G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11566C>T	2.37:g.141110606G>A	ENSP00000374135:p.His3856Tyr	TSP Lung(27;0.18)					p.H3856Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	76	12538	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3856			Extracellular (Potential).|EGF-like 9.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11566C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824209	0.71143	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90732	-2.72	5.6	5.6	0.85130	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.246729	0.32852	N	0.005567	D	0.91352	0.7272	L	0.54323	1.7	0.51767	D	0.999934	B	0.28419	0.211	B	0.38156	0.266	D	0.89509	0.3770	10	0.87932	D	0	.	19.9709	0.97285	0.0:0.0:1.0:0.0	.	3856	Q9NZR2	LRP1B_HUMAN	Y	3856;3794	ENSP00000374135:H3856Y	ENSP00000374135:H3856Y	H	-	1	0	LRP1B	140827076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.989000	0.93506	2.796000	0.96246	0.591000	0.81541	CAT		PASS	0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	52	12	52	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141113992	141113992	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:141113992A>G	ENST00000389484.3	-	75	12420	c.11449T>C	c.(11449-11451)Tat>Cat	p.Y3817H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3817	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Y3817H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATTACAATATGCATCATCT	0.323										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11449-11451)TAT>CAT		low density lipoprotein-related protein 1B							112.0	114.0	113.0					2																	141113992		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141113992A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11449T>C	2.37:g.141113992A>G	ENSP00000374135:p.Tyr3817His	TSP Lung(27;0.18)					p.Y3817H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	75	12421	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3817			Extracellular (Potential).|EGF-like 8.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11449T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.742498	0.30865	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.29655	1.56	5.83	4.67	0.58626	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.352416	0.27043	N	0.021220	T	0.18045	0.0433	N	0.08118	0	0.21782	N	0.999544	P	0.48162	0.906	P	0.44732	0.459	T	0.09975	-1.0650	10	0.15499	T	0.54	.	12.5245	0.56079	0.875:0.0:0.0:0.125	.	3817	Q9NZR2	LRP1B_HUMAN	H	3817;3755	ENSP00000374135:Y3817H	ENSP00000374135:Y3817H	Y	-	1	0	LRP1B	140830462	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.854000	0.48325	1.035000	0.39972	-0.259000	0.10710	TAT		PASS	0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	17	3	17	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141294240	141294240	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:141294240A>T	ENST00000389484.3	-	46	8523	c.7552T>A	c.(7552-7554)Tgt>Agt	p.C2518S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2518	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.C2518S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTTCCACATTCAAACTCC	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7552-7554)TGT>AGT		low density lipoprotein-related protein 1B							109.0	103.0	105.0					2																	141294240		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141294240A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7552T>A	2.37:g.141294240A>T	ENSP00000374135:p.Cys2518Ser	TSP Lung(27;0.18)					p.C2518S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	46	8524	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2518			Extracellular (Potential).|LDL-receptor class A 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7552T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650337	0.87958	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99937	-8.33	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96205	0.9148	10	0.59425	D	0.04	.	15.2535	0.73568	1.0:0.0:0.0:0.0	.	2518	Q9NZR2	LRP1B_HUMAN	S	2518;2456	ENSP00000374135:C2518S	ENSP00000374135:C2518S	C	-	1	0	LRP1B	141010710	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	9.226000	0.95229	2.015000	0.59207	0.528000	0.53228	TGT		PASS	0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	32	8	32	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145158874	145158874	+	Splice_Site	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:145158874G>T	ENST00000558170.2	-	7	1992	c.808C>A	c.(808-810)Cac>Aac	p.H270N	ZEB2_ENST00000539609.3_Splice_Site_p.H246N|ZEB2_ENST00000409487.3_Splice_Site_p.H270N|ZEB2_ENST00000303660.4_Splice_Site_p.H270N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	270					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.H270N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGCATTTGGTGCTATAAAAGG	0.393																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(808-810)CAC>AAC		zinc finger homeobox 1b							123.0	121.0	122.0					2																	145158874		2203	4300	6503	SO:0001630	splice_region_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145158874G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.808-1C>A	2.37:g.145158874G>T						ZEB2_uc002tvv.2_Missense_Mutation_p.H264N|ZEB2_uc010zbm.1_Missense_Mutation_p.H241N|ZEB2_uc010fnp.2_Missense_Mutation_p.H178N|ZEB2_uc010fnq.1_Missense_Mutation_p.H299N	p.H270N	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1288	-			270					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.808C>A	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.453610|3.453610	0.63290|0.63290	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861|ENST00000419938	T;T;T;T;T|.	0.14391|.	2.62;2.61;2.61;2.57;2.51|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.046228|.	0.85682|.	D|.	0.000000|.	T|T	0.51363|0.51363	0.1670|0.1670	N|N	0.16098|0.16098	0.37|0.37	0.80722|0.80722	D|D	1|1	P;P;D;P;P|.	0.54207|.	0.899;0.895;0.965;0.779;0.915|.	P;B;P;B;P|.	0.58172|.	0.457;0.428;0.834;0.145;0.773|.	T|T	0.46748|0.46748	-0.9169|-0.9169	10|5	0.62326|.	D|.	0.03|.	-11.3621|-11.3621	19.066|19.066	0.93110|0.93110	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	246;135;246;269;270|.	F5H814;Q53TD9;B7Z2P2;A0JP08;O60315|.	.;.;.;.;ZEB2_HUMAN|.	N|R	265;246;270;270;270;270|158	ENSP00000443792:H246N;ENSP00000302501:H270N;ENSP00000386854:H270N;ENSP00000395496:H270N;ENSP00000376601:H270N|.	ENSP00000302501:H270N|.	H|S	-|-	1|3	0|2	ZEB2|ZEB2	144875344|144875344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	7.876000|7.876000	0.87215|0.87215	2.520000|2.520000	0.84964|0.84964	0.491000|0.491000	0.48974|0.48974	CAC|AGC		PASS	0.393	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	Missense_Mutation	9	53	9	53	---	---	---	---
GPD2	2820	broad.mit.edu	37	2	157436286	157436286	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:157436286A>C	ENST00000310454.6	+	16	2416	c.2044A>C	c.(2044-2046)Aat>Cat	p.N682H	GPD2_ENST00000409674.1_Missense_Mutation_p.N682H|GPD2_ENST00000409125.4_Missense_Mutation_p.N455H|GPD2_ENST00000438166.2_Missense_Mutation_p.N682H|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000496190.1_3'UTR	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	682	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.N682H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GGTTGAACTCAATGAATTTTT	0.303																																						uc002tzf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2044-2046)AAT>CAT		glycerol-3-phosphate dehydrogenase 2,							60.0	62.0	61.0					2																	157436286		2202	4300	6502	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157436286A>C		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.2044A>C	2.37:g.157436286A>C	ENSP00000308610:p.Asn682His					GPD2_uc010zch.1_Missense_Mutation_p.N455H|GPD2_uc002tzd.3_Missense_Mutation_p.N682H|GPD2_uc002tze.1_RNA	p.N682H	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			16	2404	+			682			EF-hand 2.|Potential.		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.2044A>C	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062469	0.36373	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	6.07	3.68	0.42216	EF-hand-like domain (1);	0.168413	0.64402	N	0.000004	T	0.34774	0.0909	N	0.20574	0.59	0.33688	D	0.612938	B	0.02656	0.0	B	0.04013	0.001	T	0.33803	-0.9854	10	0.40728	T	0.16	.	8.8363	0.35115	0.8014:0.1324:0.0662:0.0	.	682	P43304	GPDM_HUMAN	H	682;455;682;682	ENSP00000308610:N682H;ENSP00000386484:N455H;ENSP00000409708:N682H;ENSP00000386425:N682H	ENSP00000308610:N682H	N	+	1	0	GPD2	157144532	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	2.328000	0.43867	0.524000	0.28502	0.477000	0.44152	AAT		PASS	0.303	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			9	20	9	20	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162929976	162929976	+	Silent	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:162929976C>A	ENST00000360534.3	-	2	587	c.27G>T	c.(25-27)ctG>ctT	p.L9L	AC008063.2_ENST00000418335.1_RNA	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	9					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L9L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CCAGCAGTCCCAGAAGAACCT	0.542																																						uc002ubz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(25-27)CTG>CTT		dipeptidylpeptidase IV	Sitagliptin(DB01261)						76.0	73.0	74.0					2																	162929976		2203	4300	6503	SO:0001819	synonymous_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162929976C>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.27G>T	2.37:g.162929976C>A						DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_RNA|DPP4_uc002ucb.1_RNA	p.L9L	NM_001935	NP_001926	P27487	DPP4_HUMAN			2	588	-			9			Helical; Signal-anchor for type II membrane protein; (Potential).		Q53TN1	Silent	SNP	ENST00000360534.3	37	c.27G>T	CCDS2216.1																																																																																				PASS	0.542	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			12	28	12	28	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166856244	166856244	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:166856244C>G	ENST00000303395.4	-	22	4326	c.4327G>C	c.(4327-4329)Gat>Cat	p.D1443H	SCN1A_ENST00000423058.2_Missense_Mutation_p.D1443H|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1415H|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1432H			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1443					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.D1432H(1)|p.D1443H(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)	TTTCTGGAATCAACTGCTGCA	0.313																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(4294-4296)GAT>CAT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						173.0	168.0	170.0					2																	166856244		2203	4292	6495	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166856244C>G	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.4327G>C	2.37:g.166856244C>G	ENSP00000303540:p.Asp1443His					SCN1A_uc002udo.3_Missense_Mutation_p.D1312H|SCN1A_uc010fpk.2_Missense_Mutation_p.D1284H	p.D1432H	NM_006920	NP_008851	P35498	SCN1A_HUMAN			22	4312	-			1443			III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4294G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523846	0.85600	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	H	0.99732	4.735	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.91635	0.852;0.999;0.999	D	0.98241	1.0488	10	0.87932	D	0	.	19.341	0.94340	0.0:1.0:0.0:0.0	.	1432;1415;1443	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	H	1443;1443;1432;1415	ENSP00000407030:D1443H;ENSP00000303540:D1443H;ENSP00000364554:D1432H;ENSP00000386312:D1415H	ENSP00000303540:D1443H	D	-	1	0	SCN1A	166564490	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.773000	0.85462	2.643000	0.89663	0.467000	0.42956	GAT		PASS	0.313	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		4	54	4	54	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168105057	168105057	+	Silent	SNP	G	G	A	rs187679773		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:168105057G>A	ENST00000409195.1	+	9	7244	c.7155G>A	c.(7153-7155)ccG>ccA	p.P2385P	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2163P|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.P2385P|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2210					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.P2385P(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						CCTCTGCTCCGGAAAAGCACA	0.453																																						uc002udx.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(7153-7155)CCG>CCA		xin actin-binding repeat containing 2 isoform 1							62.0	66.0	65.0					2																	168105057		1989	4151	6140	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105057G>A	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.7155G>A	2.37:g.168105057G>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P2210P|XIRP2_uc010fpq.2_Silent_p.P2163P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.P2385P	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7173	+			2210					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.7155G>A	CCDS42769.1																																																																																				PASS	0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	51	15	51	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170177289	170177289	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:170177289C>A	ENST00000263816.3	-	2	470	c.185G>T	c.(184-186)tGc>tTc	p.C62F	LRP2_ENST00000443831.1_Missense_Mutation_p.C62F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	62	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.C62F(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCACTTACCGCAGCCAATTTC	0.493																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(184-186)TGC>TTC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						131.0	103.0	113.0					2																	170177289		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170177289C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.185G>T	2.37:g.170177289C>A	ENSP00000263816:p.Cys62Phe					LRP2_uc010zdf.1_Missense_Mutation_p.C62F	p.C62F	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	2	398	-			62			LDL-receptor class A 1.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.185G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259900	0.59321	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.99919	-8.0;-8.0	5.79	5.79	0.91817	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.100511	0.64402	D	0.000001	D	0.99953	0.9980	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.96281	0.9206	9	.	.	.	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	62;62	E9PC35;P98164	.;LRP2_HUMAN	F	62	ENSP00000263816:C62F;ENSP00000409813:C62F	.	C	-	2	0	LRP2	169885535	1.000000	0.71417	0.735000	0.30896	0.008000	0.06430	7.431000	0.80335	2.718000	0.92993	0.655000	0.94253	TGC		PASS	0.493	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	39	4	39	---	---	---	---
KLHL23	151230	broad.mit.edu	37	2	170592730	170592730	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:170592730G>C	ENST00000392647.2	+	2	1450	c.1206G>C	c.(1204-1206)atG>atC	p.M402I	KLHL23_ENST00000272797.4_Missense_Mutation_p.M402I|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	402								p.M402I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TTGCAAACATGATTAAAGGTA	0.388																																						uc002ufh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1204-1206)ATG>ATC		kelch-like 23							82.0	89.0	86.0					2																	170592730		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170592730G>C	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1206G>C	2.37:g.170592730G>C	ENSP00000376419:p.Met402Ile					KLHL23_uc002ufi.1_Missense_Mutation_p.M402I	p.M402I	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN			4	1544	+			402			Kelch 3.		Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.1206G>C	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813946	0.70912	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	D;D;D	0.84070	-1.8;-1.8;-1.8	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.92021	0.7472	M	0.85542	2.76	0.26886	N	0.967427	D	0.55385	0.971	D	0.67548	0.952	D	0.92991	0.6415	9	0.87932	D	0	.	19.1478	0.93475	0.0:0.0:1.0:0.0	.	402	Q8NBE8	KLH23_HUMAN	I	402;402;223	ENSP00000272797:M402I;ENSP00000376419:M402I;ENSP00000394732:M223I	ENSP00000272797:M402I	M	+	3	0	KLHL23	170300976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.509000	0.84616	0.650000	0.86243	ATG		PASS	0.388	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		23	66	23	66	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179396364	179396364	+	Missense_Mutation	SNP	G	G	A	rs368945564		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:179396364G>A	ENST00000591111.1	-	308	100279	c.100055C>T	c.(100054-100056)aCg>aTg	p.T33352M	TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T34993M|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25928M|TTN_ENST00000359218.5_Missense_Mutation_p.T26053M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26120M|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32425M|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33352	Ig-like 146.				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.T32425M(2)|p.T26053M(2)|p.T25928M(2)|p.T32423M(2)|p.T26120M(2)|p.T32425K(1)|p.T25928K(1)|p.T26053K(1)|p.T32423K(1)|p.T26120K(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)			GACTCCACTCGTGTTGGTGTA	0.453																																						uc010zfg.1																			15	Substitution - Missense(15)		lung(15)	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.(97273-97275)ACG>ATG		titin isoform N2-A		G	MET/THR,MET/THR,MET/THR,MET/THR	0,3918		0,0,1959	135.0	130.0	132.0		78359,78158,97274,77783	-0.2	0.2	2		132	1,8327		0,1,4163	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	81,81,81,81	0,1,6122	AA,AG,GG		0.012,0.0,0.0082	benign,benign,benign,benign	26120/27119,26053/27052,32425/33424,25928/26927	179396364	1,12245	1959	4164	6123	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396364G>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.100055C>T	2.37:g.179396364G>A	ENSP00000465570:p.Thr33352Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26120M|TTN_uc010zfi.1_Missense_Mutation_p.T26053M|TTN_uc010zfj.1_Missense_Mutation_p.T25928M|TTN_uc002umq.2_5'Flank	p.T32425M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	97498	-			33352					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.97274C>T		.	.	.	.	.	.	.	.	.	.	G	6.856	0.527205	0.13066	0.0	1.2E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.56	-0.226	0.13106	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);	.	.	.	.	T	0.56202	0.1969	L	0.38692	1.165	0.21652	N	0.9996	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.10450	0.002;0.002;0.005;0.005	T	0.46527	-0.9185	9	0.87932	D	0	.	12.274	0.54724	0.3208:0.0:0.6792:0.0	.	25928;26053;26120;33352	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	32425;25928;26120;26053;25925	ENSP00000343764:T32425M;ENSP00000434586:T25928M;ENSP00000340554:T26120M;ENSP00000352154:T26053M	ENSP00000340554:T26120M	T	-	2	0	TTN	179104610	0.977000	0.34250	0.183000	0.23137	0.309000	0.27889	2.098000	0.41757	-0.703000	0.05049	-1.884000	0.00543	ACG		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	47	12	47	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179396750	179396750	+	Silent	SNP	C	C	T	rs144094650	byFrequency	TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:179396750C>T	ENST00000591111.1	-	308	99893	c.99669G>A	c.(99667-99669)ccG>ccA	p.P33223P	TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.P34864P|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Silent_p.P25799P|TTN_ENST00000359218.5_Silent_p.P25924P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P25991P|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.P32296P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33223					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.P32294P(1)|p.P25924P(1)|p.P25799P(1)|p.P25991P(1)|p.P32296P(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)			ATTCCTCAGCCGGTTGTGGAC	0.532													C|||	6	0.00119808	0.0045	0.0	5008	,	,		19374	0.0		0.0	False		,,,				2504	0.0					uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(96886-96888)CCG>CCA		titin isoform N2-A		C	,,,	6,4110		0,6,2052	113.0	103.0	106.0		77397,96888,77772,77973	-5.3	0.6	2	dbSNP_134	106	0,8416		0,0,4208	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,6,6260	TT,TC,CC		0.0,0.1458,0.0479	,,,	25799/26927,32296/33424,25924/27052,25991/27119	179396750	6,12526	2058	4208	6266	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396750C>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.99669G>A	2.37:g.179396750C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P25991P|TTN_uc010zfi.1_Silent_p.P25924P|TTN_uc010zfj.1_Silent_p.P25799P|TTN_uc002umq.2_5'Flank	p.P32296P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	97112	-			33223					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.96888G>A																																																																																					PASS	0.532	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	29	9	29	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179611100	179611100	+	Intron	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:179611100T>C	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.M5343V|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCACAATCATACTTTTATGG	0.328																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16027-16029)ATG>GTG		titin isoform novex-3							56.0	51.0	52.0					2																	179611100		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611100T>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.10361-4452A>G	2.37:g.179611100T>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.M5343V	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16251	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.16027A>G		.	.	.	.	.	.	.	.	.	.	T	15.49	2.850257	0.51270	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58358	0.34	5.88	5.88	0.94601	.	.	.	.	.	T	0.69278	0.3093	M	0.63843	1.955	0.36034	D	0.839619	P	0.51449	0.945	D	0.69824	0.966	T	0.72286	-0.4338	9	0.30078	T	0.28	.	16.3009	0.82811	0.0:0.0:0.0:1.0	.	5343	Q8WZ42-6	.	V	5343;624	ENSP00000354117:M5343V	ENSP00000304714:M624V	M	-	1	0	TTN	179319345	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.260000	0.72502	2.246000	0.74042	0.533000	0.62120	ATG		PASS	0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	20	5	20	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179640092	179640092	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:179640092G>T	ENST00000591111.1	-	28	6723	c.6499C>A	c.(6499-6501)Ctt>Att	p.L2167I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L2167I|TTN_ENST00000460472.2_Missense_Mutation_p.L2121I|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L2121I|TTN_ENST00000342175.6_Missense_Mutation_p.L2121I|TTN_ENST00000360870.5_Missense_Mutation_p.L2167I|TTN_ENST00000342992.6_Missense_Mutation_p.L2167I|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12495	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.L2167I(3)|p.L2121I(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)			CCTTGGACAAGTAAGAATGCG	0.408																																						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.(6499-6501)CTT>ATT		titin isoform N2-A							95.0	88.0	91.0					2																	179640092		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640092G>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.6499C>A	2.37:g.179640092G>T	ENSP00000465570:p.Leu2167Ile					TTN_uc010zfh.1_Missense_Mutation_p.L2121I|TTN_uc010zfi.1_Missense_Mutation_p.L2121I|TTN_uc010zfj.1_Missense_Mutation_p.L2121I|TTN_uc002unb.2_Missense_Mutation_p.L2167I|uc002unc.1_5'Flank	p.L2167I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6723	-			2167					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.6499C>A		.	.	.	.	.	.	.	.	.	.	G	10.04	1.240924	0.22711	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72859	0.3513	L	0.31207	0.915	0.27374	N	0.955603	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.997	T	0.65957	-0.6042	9	0.87932	D	0	.	12.7028	0.57043	0.0861:0.0:0.9139:0.0	.	2121;2121;2121;2167;2167	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	2167;2121;2121;2121;2121;2167	ENSP00000343764:L2167I;ENSP00000434586:L2121I;ENSP00000340554:L2121I;ENSP00000352154:L2121I;ENSP00000354117:L2167I	ENSP00000340554:L2121I	L	-	1	0	TTN	179348337	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.001000	0.63946	2.468000	0.83385	0.655000	0.94253	CTT		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	48	9	48	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179664420	179664420	+	Silent	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:179664420T>A	ENST00000591111.1	-	6	932	c.708A>T	c.(706-708)acA>acT	p.T236T	TTN_ENST00000589042.1_Silent_p.T236T|TTN_ENST00000460472.2_Silent_p.T236T|TTN_ENST00000359218.5_Silent_p.T236T|TTN_ENST00000342175.6_Silent_p.T236T|TTN_ENST00000360870.5_Silent_p.T236T|TTN_ENST00000342992.6_Silent_p.T236T			Q8WZ42	TITIN_HUMAN	titin	0					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.T236T(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)			CCATCTCAACTGTTGCAATTG	0.493																																						uc002und.2																			6	Substitution - coding silent(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.(706-708)ACA>ACT		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							87.0	86.0	87.0					2																	179664420		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664420T>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.708A>T	2.37:g.179664420T>A						TTN_uc010zfg.1_Silent_p.T236T|TTN_uc010zfh.1_Silent_p.T236T|TTN_uc010zfi.1_Silent_p.T236T|TTN_uc010zfj.1_Silent_p.T236T|TTN_uc002unb.2_Silent_p.T236T	p.T236T			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		6	933	-			236					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.708A>T																																																																																					PASS	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	30	9	30	---	---	---	---
NEU2	4759	broad.mit.edu	37	2	233899557	233899557	+	Silent	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:233899557C>G	ENST00000233840.3	+	2	933	c.933C>G	c.(931-933)ctC>ctG	p.L311L		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	311					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)	p.L311L(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GTGCCTACCTCAACCCGCGAC	0.697																																						uc010zmn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(931-933)CTC>CTG		neuraminidase 2							56.0	62.0	60.0					2																	233899557		2203	4300	6503	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233899557C>G	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.933C>G	2.37:g.233899557C>G							p.L311L	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	933	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	311					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.933C>G	CCDS2501.1																																																																																				PASS	0.697	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		3	32	3	32	---	---	---	---
OXNAD1	92106	broad.mit.edu	37	3	16327951	16327951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:16327951C>T	ENST00000285083.5	+	5	751	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	OXNAD1_ENST00000605932.1_Nonsense_Mutation_p.Q96*|OXNAD1_ENST00000435829.2_Nonsense_Mutation_p.Q114*|OXNAD1_ENST00000544043.1_Nonsense_Mutation_p.Q114*|OXNAD1_ENST00000606098.1_Nonsense_Mutation_p.Q96*	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	96	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.Q96*(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TAAAGCTGGCCAGTGGTAAGT	0.463																																						uc003caw.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(286-288)CAG>TAG		oxidoreductase NAD-binding domain containing 1							198.0	164.0	176.0					3																	16327951		2203	4300	6503	SO:0001587	stop_gained	92106						oxidoreductase activity	g.chr3:16327951C>T	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.286C>T	3.37:g.16327951C>T	ENSP00000285083:p.Gln96*					OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Nonsense_Mutation_p.Q96*|OXNAD1_uc011awb.1_Nonsense_Mutation_p.Q114*	p.Q96*	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN			5	743	+			96			FAD-binding FR-type.		Q2HYC7|Q59FA4	Nonsense_Mutation	SNP	ENST00000285083.5	37	c.286C>T	CCDS2630.1	.	.	.	.	.	.	.	.	.	.	C	40	8.518682	0.98845	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.9094	18.8288	0.92128	0.0:1.0:0.0:0.0	.	.	.	.	X	96;96;114	.	ENSP00000285083:Q96X	Q	+	1	0	OXNAD1	16302955	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.649000	0.61433	2.442000	0.82660	0.655000	0.94253	CAG		PASS	0.463	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381		12	31	12	31	---	---	---	---
EOMES	8320	broad.mit.edu	37	3	27758626	27758626	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:27758626C>T	ENST00000295743.4	-	6	2199	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	EOMES_ENST00000449599.1_Missense_Mutation_p.E685K|EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Missense_Mutation_p.E390K			O95936	EOMES_HUMAN	eomesodermin	666	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E666K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CTATACTCTTCAGCATTAATG	0.393																																						uc003cdx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1996-1998)GAA>AAA		eomesodermin							140.0	135.0	137.0					3																	27758626		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27758626C>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1996G>A	3.37:g.27758626C>T	ENSP00000295743:p.Glu666Lys					EOMES_uc003cdy.3_Missense_Mutation_p.E685K|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.E390K	p.E666K	NM_005442	NP_005433	O95936	EOMES_HUMAN			6	1996	-			666			Required for transcription activation (By similarity).		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.1996G>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243455	0.39697	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.85773	-2.03;-2.03;-1.69	4.49	4.49	0.54785	.	0.944681	0.08923	N	0.874127	D	0.84629	0.5514	L	0.49640	1.575	0.80722	D	1	P;P;B	0.36789	0.462;0.57;0.434	B;B;B	0.37650	0.211;0.255;0.13	T	0.79921	-0.1599	10	0.39692	T	0.17	.	18.0691	0.89400	0.0:1.0:0.0:0.0	.	399;685;666	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	K	666;685;390;550	ENSP00000295743:E666K;ENSP00000388620:E685K;ENSP00000442097:E390K	ENSP00000295743:E666K	E	-	1	0	EOMES	27733630	1.000000	0.71417	0.932000	0.37286	0.913000	0.54294	5.696000	0.68287	2.418000	0.82041	0.563000	0.77884	GAA		PASS	0.393	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		5	101	5	101	---	---	---	---
HEMK1	51409	broad.mit.edu	37	3	50617290	50617290	+	Silent	SNP	G	G	T	rs530213223		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:50617290G>T	ENST00000232854.4	+	9	1338	c.786G>T	c.(784-786)gcG>gcT	p.A262A	HEMK1_ENST00000455834.1_Silent_p.A262A|HEMK1_ENST00000434410.1_Silent_p.A262A	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	262					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)	p.A262A(1)		lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		AAGACCCCGCGGCCCTGGATG	0.572																																						uc003dau.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(784-786)GCG>GCT		HemK methyltransferase family member 1							94.0	87.0	89.0					3																	50617290		2203	4300	6503	SO:0001819	synonymous_variant	51409				DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity	g.chr3:50617290G>T	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.786G>T	3.37:g.50617290G>T						HEMK1_uc003dav.2_Silent_p.A262A|HEMK1_uc003daw.2_Silent_p.A262A	p.A262A	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)	9	1082	+			262						Silent	SNP	ENST00000232854.4	37	c.786G>T	CCDS2830.1																																																																																				PASS	0.572	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	NM_016173		8	18	8	18	---	---	---	---
IFT57	55081	broad.mit.edu	37	3	107885739	107885739	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:107885739C>A	ENST00000264538.3	-	8	1190	c.943G>T	c.(943-945)Gtt>Ttt	p.V315F	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	315					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)	p.V315F(1)|p.V315I(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TATTCTTGAACCAAATTCTCA	0.373																																						uc003dwx.3																			2	Substitution - Missense(2)		lung(1)|prostate(1)	ovary(1)|skin(1)|pancreas(1)	3						c.(943-945)GTT>TTT		estrogen-related receptor beta like 1							146.0	137.0	140.0					3																	107885739		2203	4300	6503	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107885739C>A	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.943G>T	3.37:g.107885739C>A	ENSP00000264538:p.Val315Phe						p.V315F	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		8	1191	-			315			Potential.		Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.943G>T	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.570055	0.65765	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.78	4.91	0.64330	.	0.240093	0.42420	D	0.000704	T	0.63815	0.2543	M	0.68952	2.095	0.42859	D	0.994103	P	0.48350	0.909	P	0.49387	0.609	T	0.67768	-0.5585	9	0.56958	D	0.05	.	12.5883	0.56430	0.0:0.8631:0.0:0.1369	.	315	Q9NWB7	IFT57_HUMAN	F	315	.	ENSP00000264538:V315F	V	-	1	0	IFT57	109368429	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.631000	0.37092	1.455000	0.47813	0.650000	0.86243	GTT		PASS	0.373	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		13	31	13	31	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119134765	119134765	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:119134765C>T	ENST00000264245.4	+	12	4521	c.3989C>T	c.(3988-3990)tCt>tTt	p.S1330F		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1330					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.S1330F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGCGACCATCTGGGGGTTCT	0.522																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3988-3990)TCT>TTT		Cdc42 GTPase-activating protein							102.0	107.0	105.0					3																	119134765		1903	4112	6015	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134765C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3989C>T	3.37:g.119134765C>T	ENSP00000264245:p.Ser1330Phe						p.S1330F	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	4521	+			1330					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3989C>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126011	0.56721	.	.	ENSG00000031081	ENST00000264245	T	0.58940	0.3	5.74	5.74	0.90152	.	0.112723	0.40469	N	0.001089	T	0.48642	0.1511	L	0.34521	1.04	0.48696	D	0.999691	B	0.32918	0.39	B	0.24541	0.054	T	0.51810	-0.8658	10	0.87932	D	0	.	19.2859	0.94069	0.0:1.0:0.0:0.0	.	1330	Q2M1Z3	RHG31_HUMAN	F	1330	ENSP00000264245:S1330F	ENSP00000264245:S1330F	S	+	2	0	ARHGAP31	120617455	0.995000	0.38212	1.000000	0.80357	0.976000	0.68499	4.188000	0.58351	2.873000	0.98535	0.563000	0.77884	TCT		PASS	0.522	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			7	105	7	105	---	---	---	---
GTF2E1	2960	broad.mit.edu	37	3	120500143	120500143	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:120500143G>T	ENST00000283875.5	+	5	1239	c.1146G>T	c.(1144-1146)gaG>gaT	p.E382D		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	382	Asp/Glu-rich (acidic).				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.E382D(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AGGATGAAGAGGAAGATGACG	0.537																																						uc003edz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1144-1146)GAG>GAT		general transcription factor IIE, polypeptide 1,							164.0	158.0	160.0					3																	120500143		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120500143G>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.1146G>T	3.37:g.120500143G>T	ENSP00000283875:p.Glu382Asp						p.E382D	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	5	1260	+			382			Asp/Glu-rich (acidic).		Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.1146G>T	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	7.044	0.563215	0.13498	.	.	ENSG00000153767	ENST00000283875	T	0.39406	1.08	5.12	-5.44	0.02624	.	0.153357	0.56097	N	0.000030	T	0.18467	0.0443	N	0.08118	0	0.26625	N	0.972582	B	0.09022	0.002	B	0.10450	0.005	T	0.13764	-1.0497	10	0.16420	T	0.52	-31.4853	15.3208	0.74120	0.7258:0.0:0.2742:0.0	.	382	P29083	T2EA_HUMAN	D	382	ENSP00000283875:E382D	ENSP00000283875:E382D	E	+	3	2	GTF2E1	121982833	0.229000	0.23729	0.226000	0.23910	0.470000	0.32858	-0.270000	0.08584	-1.061000	0.03185	-0.142000	0.14014	GAG		PASS	0.537	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		5	108	5	108	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121208732	121208732	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:121208732C>A	ENST00000264233.5	-	16	3174	c.3046G>T	c.(3046-3048)Gtt>Ttt	p.V1016F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1016					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.V1151F(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAAGTCTGAACAACTTTCTTA	0.363								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3046-3048)GTT>TTT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							77.0	86.0	83.0					3																	121208732		2202	4300	6502	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208732C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3046G>T	3.37:g.121208732C>A	ENSP00000264233:p.Val1016Phe					POLQ_uc003eed.2_Missense_Mutation_p.V188F	p.V1016F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3175	-			1016					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3046G>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	6.617	0.482307	0.12581	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50813	0.73	5.11	0.6	0.17524	.	0.843356	0.11004	N	0.610146	T	0.30039	0.0752	L	0.27053	0.805	0.09310	N	1	P;P	0.49090	0.788;0.919	B;B	0.40285	0.226;0.325	T	0.14587	-1.0467	10	0.51188	T	0.08	.	5.1943	0.15227	0.0:0.2686:0.4838:0.2476	.	1016;188	O75417;O75417-2	DPOLQ_HUMAN;.	F	639;1016;1152	ENSP00000264233:V1016F	ENSP00000264233:V1016F	V	-	1	0	POLQ	122691422	0.001000	0.12720	0.438000	0.26821	0.035000	0.12851	0.011000	0.13264	0.533000	0.28675	-0.219000	0.12488	GTT		PASS	0.363	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		11	73	11	73	---	---	---	---
NEK11	79858	broad.mit.edu	37	3	130871272	130871272	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:130871272C>G	ENST00000383366.4	+	8	981	c.688C>G	c.(688-690)Cat>Gat	p.H230D	NEK11_ENST00000429253.2_Missense_Mutation_p.H230D|NEK11_ENST00000508196.1_Missense_Mutation_p.H230D|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000507910.1_Missense_Mutation_p.H230D|NEK11_ENST00000511262.1_Missense_Mutation_p.H230D|NEK11_ENST00000412440.2_Missense_Mutation_p.H82D|NEK11_ENST00000510688.1_Missense_Mutation_p.H230D|NEK11_ENST00000356918.4_Missense_Mutation_p.H230D|NEK11_ENST00000510769.1_Intron	NM_024800.4	NP_079076.3			NIMA-related kinase 11									p.H230D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTGCATGAATCATGCATTCGC	0.343																																						uc003eny.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(688-690)CAT>GAT		NIMA-related kinase 11 isoform 1							108.0	113.0	111.0					3																	130871272		2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130871272C>G	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000383366.4:c.688C>G	3.37:g.130871272C>G	ENSP00000372857:p.His230Asp					NEK11_uc003enx.2_Missense_Mutation_p.H230D|NEK11_uc003eoa.2_Missense_Mutation_p.H230D|NEK11_uc003enz.2_Missense_Mutation_p.H48D|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.H82D|NEK11_uc011bll.1_Intron|NEK11_uc011blm.1_Missense_Mutation_p.H230D|NEK11_uc010hto.1_Missense_Mutation_p.H82D	p.H230D	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			8	1014	+			230			Protein kinase.			Missense_Mutation	SNP	ENST00000383366.4	37	c.688C>G	CCDS3069.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960876	0.74016	.	.	ENSG00000114670	ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;2.78;1.08;1.08	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000048	T	0.59432	0.2193	L	0.40543	1.245	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.81914	0.995;0.986;0.977;0.995;0.977	T	0.58769	-0.7578	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	230;82;230;230;230	Q8NG66-3;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	D	230;230;230;230;230;82;230;230	ENSP00000397180:H230D;ENSP00000349389:H230D;ENSP00000423458:H230D;ENSP00000425114:H230D;ENSP00000372857:H230D;ENSP00000411888:H82D;ENSP00000426662:H230D;ENSP00000421851:H230D	ENSP00000349389:H230D	H	+	1	0	NEK11	132353962	1.000000	0.71417	0.410000	0.26471	0.577000	0.36160	6.538000	0.73852	2.793000	0.96121	0.655000	0.94253	CAT		PASS	0.343	NEK11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356755.1	NM_024800		18	80	18	80	---	---	---	---
ATR	545	broad.mit.edu	37	3	142178212	142178212	+	Silent	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:142178212T>A	ENST00000350721.4	-	43	7327	c.7206A>T	c.(7204-7206)acA>acT	p.T2402T	ATR_ENST00000383101.3_Silent_p.T2338T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2402	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T2402T(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTTCTTTTCCTGTCATATACA	0.383								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - coding silent(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(7204-7206)ACA>ACT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							58.0	56.0	57.0					3																	142178212		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142178212T>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7206A>T	3.37:g.142178212T>A						ATR_uc003euy.1_Silent_p.T288T	p.T2402T	NM_001184	NP_001175	Q13535	ATR_HUMAN			43	7328	-			2402			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.7206A>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	8.465	0.856115	0.17106	.	.	ENSG00000175054	ENST00000513291	.	.	.	4.58	0.454	0.16644	.	.	.	.	.	T	0.45816	0.1361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26849	-1.0091	4	.	.	.	-5.5774	4.4701	0.11708	0.2151:0.1809:0.0:0.604	.	.	.	.	W	249	.	.	R	-	1	2	ATR	143660902	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.375000	0.20518	0.236000	0.21180	0.402000	0.26972	AGG		PASS	0.383	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		9	21	9	21	---	---	---	---
SI	6476	broad.mit.edu	37	3	164756916	164756916	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:164756916C>A	ENST00000264382.3	-	20	2313	c.2251G>T	c.(2251-2253)Gat>Tat	p.D751Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	751	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.D751Y(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTCACAGTATCTGCTCCCTAA	0.294										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2251-2253)GAT>TAT		sucrase-isomaltase	Acarbose(DB00284)						48.0	47.0	48.0					3																	164756916		2202	4285	6487	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164756916C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2251G>T	3.37:g.164756916C>A	ENSP00000264382:p.Asp751Tyr	HNSCC(35;0.089)					p.D751Y	NM_001041	NP_001032	P14410	SUIS_HUMAN			20	2313	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	751			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2251G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505453	0.44558	.	.	ENSG00000090402	ENST00000264382	D	0.91521	-2.86	5.12	2.2	0.27929	.	0.457229	0.23600	N	0.046443	D	0.91290	0.7254	M	0.72576	2.205	0.09310	N	1	P	0.43231	0.801	P	0.54401	0.751	D	0.83524	0.0087	10	0.59425	D	0.04	.	3.9713	0.09454	0.1562:0.5219:0.0:0.3219	.	751	P14410	SUIS_HUMAN	Y	751	ENSP00000264382:D751Y	ENSP00000264382:D751Y	D	-	1	0	SI	166239610	0.000000	0.05858	0.769000	0.31535	0.866000	0.49608	0.103000	0.15292	0.729000	0.32403	0.650000	0.86243	GAT		PASS	0.294	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		4	6	4	6	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165548739	165548739	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:165548739G>T	ENST00000264381.3	-	2	249	c.83C>A	c.(82-84)aCt>aAt	p.T28N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	28					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.T28N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	GTCATCTTCAGTATGTGACTT	0.378																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(82-84)ACT>AAT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						71.0	65.0	67.0					3																	165548739		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548739G>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.83C>A	3.37:g.165548739G>T	ENSP00000264381:p.Thr28Asn					BCHE_uc003fen.3_Intron	p.T28N	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	243	-			28					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.83C>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.236682	0.01493	.	.	ENSG00000114200	ENST00000264381	T	0.68624	-0.34	5.81	-0.879	0.10613	Carboxylesterase, type B (1);	0.686848	0.14563	N	0.311954	T	0.44435	0.1293	N	0.20986	0.625	0.09310	N	0.999998	B	0.13594	0.008	B	0.21151	0.033	T	0.21586	-1.0241	10	0.21014	T	0.42	.	5.331	0.15932	0.1345:0.4863:0.2605:0.1187	.	28	P06276	CHLE_HUMAN	N	28	ENSP00000264381:T28N	ENSP00000264381:T28N	T	-	2	0	BCHE	167031433	0.342000	0.24809	0.011000	0.14972	0.003000	0.03518	0.653000	0.24902	-0.232000	0.09811	-1.047000	0.02352	ACT		PASS	0.378	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			5	25	5	25	---	---	---	---
NDUFB5	4711	broad.mit.edu	37	3	179334808	179334808	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:179334808C>T	ENST00000259037.3	+	4	432	c.318C>T	c.(316-318)gtC>gtT	p.V106V	NDUFB5_ENST00000493866.1_Silent_p.V54V|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.V94V|snoU13_ENST00000459278.1_RNA	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	106					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.V106V(1)		endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			AAGGCTATGTCCCAGAACACT	0.328																																						uc003fkc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(316-318)GTC>GTT		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						86.0	85.0	85.0					3																	179334808		2203	4300	6503	SO:0001819	synonymous_variant	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179334808C>T	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.318C>T	3.37:g.179334808C>T						NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Silent_p.V54V	p.V106V	NM_002492	NP_002483	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		4	347	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		106					Q561V6	Silent	SNP	ENST00000259037.3	37	c.318C>T	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228489	0.22542	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.54	-1.99	0.07457	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30446	-0.9978	4	.	.	.	-2.6822	0.8094	0.01090	0.3108:0.2819:0.1023:0.305	.	.	.	.	F	123	.	.	S	+	2	0	NDUFB5	180817502	0.450000	0.25697	0.960000	0.40013	0.982000	0.71751	-0.258000	0.08733	-0.276000	0.09206	-0.323000	0.08544	TCC		PASS	0.328	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		17	22	17	22	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183770895	183770895	+	Silent	SNP	G	G	A	rs367597669	byFrequency	TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:183770895G>A	ENST00000318351.1	+	1	61	c.27G>A	c.(25-27)caG>caA	p.Q9Q		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	9					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.Q9Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTGCAAGGCAGAGTGCCCTCC	0.557																																						uc003fmk.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(25-27)CAG>CAA		5-hydroxytryptamine receptor 3 subunit C							122.0	105.0	111.0					3																	183770895		2203	4300	6503	SO:0001819	synonymous_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183770895G>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.27G>A	3.37:g.183770895G>A							p.Q9Q	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		1	61	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		9					A2RRR5	Silent	SNP	ENST00000318351.1	37	c.27G>A	CCDS3250.1																																																																																				PASS	0.557	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		4	72	4	72	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183777395	183777395	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:183777395G>A	ENST00000318351.1	+	7	926	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	298					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.D298N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CATGATGAATGACTTGCTCCC	0.572																																						uc003fmk.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(892-894)GAC>AAC		5-hydroxytryptamine receptor 3 subunit C							168.0	151.0	157.0					3																	183777395		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777395G>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.892G>A	3.37:g.183777395G>A	ENSP00000322617:p.Asp298Asn						p.D298N	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	926	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		298			Helical; Name=2; (Potential).		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.892G>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	16.42	3.117159	0.56505	.	.	ENSG00000178084	ENST00000318351	D	0.82344	-1.6	4.24	1.33	0.21861	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.249403	0.37715	N	0.001973	D	0.82884	0.5134	M	0.73598	2.24	0.24484	N	0.994338	B	0.29481	0.245	B	0.41202	0.35	T	0.76372	-0.2983	10	0.87932	D	0	.	5.7289	0.18028	0.1898:0.1615:0.6487:0.0	.	298	Q8WXA8	5HT3C_HUMAN	N	298	ENSP00000322617:D298N	ENSP00000322617:D298N	D	+	1	0	HTR3C	185260089	1.000000	0.71417	0.000000	0.03702	0.650000	0.38633	5.154000	0.64894	0.074000	0.16767	0.655000	0.94253	GAC		PASS	0.572	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		8	136	8	136	---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196612846	196612846	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:196612846G>A	ENST00000323460.5	+	2	1043	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.R265Q	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	265					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.R265Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAAGCCCAGCGAAGCTGGGTA	0.483																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)	3						c.(793-795)CGA>CAA		SUMO1/sentrin specific peptidase 5							48.0	53.0	51.0					3																	196612846		2202	4297	6499	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612846G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.794G>A	3.37:g.196612846G>A	ENSP00000327197:p.Arg265Gln					SENP5_uc011bty.1_Missense_Mutation_p.R265Q	p.R265Q	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1043	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		265					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.794G>A	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198805	0.38806	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.34859	1.34;1.34	5.58	0.474	0.16768	.	0.602785	0.14918	N	0.290810	T	0.21761	0.0524	L	0.29908	0.895	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.002	T	0.05354	-1.0890	10	0.36615	T	0.2	-1.1835	5.0062	0.14289	0.3152:0.259:0.4258:0.0	.	265;265	B4DY82;Q96HI0	.;SENP5_HUMAN	Q	265	ENSP00000327197:R265Q;ENSP00000390231:R265Q	ENSP00000327197:R265Q	R	+	2	0	SENP5	198097243	0.004000	0.15560	0.980000	0.43619	0.998000	0.95712	0.054000	0.14205	-0.124000	0.11724	0.655000	0.94253	CGA		PASS	0.483	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		13	46	13	46	---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196654687	196654687	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr3:196654687G>A	ENST00000323460.5	+	8	2292	c.2043G>A	c.(2041-2043)ctG>ctA	p.L681L	SENP5_ENST00000419026.1_Silent_p.L171L|SENP5_ENST00000445299.2_Silent_p.L635L	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	681	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L681L(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGTATTTGCTGACTGAAGCCA	0.403																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)	3						c.(2041-2043)CTG>CTA		SUMO1/sentrin specific peptidase 5							52.0	54.0	54.0					3																	196654687		2203	4300	6503	SO:0001819	synonymous_variant	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196654687G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.2043G>A	3.37:g.196654687G>A						SENP5_uc011bty.1_Silent_p.L635L	p.L681L	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	8	2292	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		681			Protease.		B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	c.2043G>A	CCDS3322.1																																																																																				PASS	0.403	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		9	39	9	39	---	---	---	---
TADA2B	93624	broad.mit.edu	37	4	7056395	7056395	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:7056395C>T	ENST00000310074.7	+	2	1066	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	TADA2B_ENST00000515646.1_Missense_Mutation_p.R201W|TADA2B_ENST00000512388.1_Missense_Mutation_p.R218W	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	293					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R293W(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						AGAACTGCAGCGGTACCGGCG	0.522																																						uc003gjw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(877-879)CGG>TGG		transcriptional adaptor 2 (ADA2 homolog,							42.0	49.0	47.0					4																	7056395		1993	4157	6150	SO:0001583	missense	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056395C>T	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.877C>T	4.37:g.7056395C>T	ENSP00000308022:p.Arg293Trp					TADA2B_uc010idi.2_Missense_Mutation_p.R218W	p.R293W	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN			2	1028	+			293					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	c.877C>T	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765668	0.69878	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	T;T;T	0.43294	0.95;0.95;0.95	4.96	1.1	0.20463	.	.	.	.	.	T	0.60521	0.2275	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.964	T	0.62015	-0.6943	9	0.66056	D	0.02	-37.0971	14.7731	0.69693	0.6349:0.3651:0.0:0.0	.	218;293	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	W	293;218;201	ENSP00000308022:R293W;ENSP00000423947:R218W;ENSP00000423181:R201W	ENSP00000308022:R293W	R	+	1	2	TADA2B	7107296	0.997000	0.39634	0.950000	0.38849	0.985000	0.73830	0.375000	0.20518	-0.120000	0.11809	0.561000	0.74099	CGG		PASS	0.522	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		4	32	4	32	---	---	---	---
SRP72	6731	broad.mit.edu	37	4	57361544	57361544	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:57361544G>A	ENST00000342756.5	+	17	2383	c.1662G>A	c.(1660-1662)aaG>aaA	p.K554K	SRP72_ENST00000510663.1_Silent_p.K493K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	554	Poly-Lys.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K554K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TGAAAAAGAAGAAAAAGAAAA	0.254																																						uc003hbv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1660-1662)AAG>AAA		signal recognition particle 72kDa							24.0	25.0	25.0					4																	57361544		2149	4256	6405	SO:0001819	synonymous_variant	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57361544G>A	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1662G>A	4.37:g.57361544G>A						SRP72_uc010ihe.2_Silent_p.K493K	p.K554K	NM_006947	NP_008878	O76094	SRP72_HUMAN			17	1702	+	Glioma(25;0.08)|all_neural(26;0.101)		554			Poly-Lys.		G5E9Z8|Q7Z3C0	Silent	SNP	ENST00000342756.5	37	c.1662G>A	CCDS3506.1																																																																																				PASS	0.254	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			3	14	3	14	---	---	---	---
UGT2B15	7366	broad.mit.edu	37	4	69512834	69512834	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:69512834C>T	ENST00000338206.5	-	6	1590	c.1581G>A	c.(1579-1581)aaG>aaA	p.K527K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	527					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.K527K(1)								Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	AATCTCTTTTCTTCTTCTTTC	0.388																																						uc011cal.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1579-1581)AAG>AAA		UDP glycosyltransferase 2B15 precursor							125.0	130.0	128.0					4																	69512834		2203	4296	6499	SO:0001819	synonymous_variant	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69512834C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1581G>A	4.37:g.69512834C>T							p.K527K	NM_001076	NP_001067	P54855	UDB15_HUMAN			6	1619	-			527					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Silent	SNP	ENST00000338206.5	37	c.1581G>A	CCDS3524.1																																																																																				PASS	0.388	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		19	80	19	80	---	---	---	---
SMR3A	26952	broad.mit.edu	37	4	71232643	71232643	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:71232643C>G	ENST00000226460.4	+	3	433	c.337C>G	c.(337-339)Cca>Gca	p.P113A		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	113	Pro-rich.					extracellular region (GO:0005576)		p.P113A(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				AAGACCCTATCCACCTGGACC	0.532																																						uc003hfg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)CCA>GCA		submaxillary gland androgen regulated protein 3							142.0	132.0	135.0					4																	71232643		2203	4300	6503	SO:0001583	missense	26952					extracellular region		g.chr4:71232643C>G	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.337C>G	4.37:g.71232643C>G	ENSP00000226460:p.Pro113Ala					SMR3B_uc011cas.1_Intron	p.P113A	NM_012390	NP_036522	Q99954	SMR3A_HUMAN			3	418	+		all_hematologic(202;0.196)	113			Pro-rich.			Missense_Mutation	SNP	ENST00000226460.4	37	c.337C>G	CCDS34000.1	.	.	.	.	.	.	.	.	.	.	C	6.198	0.404758	0.11754	.	.	ENSG00000109208	ENST00000226460	T	0.28454	1.61	3.34	2.47	0.30058	.	.	.	.	.	T	0.26085	0.0636	N	0.19112	0.55	0.09310	N	1	D	0.56035	0.974	P	0.54026	0.74	T	0.08806	-1.0704	9	0.15066	T	0.55	.	7.8313	0.29344	0.2479:0.7521:0.0:0.0	.	113	Q99954	SMR3A_HUMAN	A	113	ENSP00000226460:P113A	ENSP00000226460:P113A	P	+	1	0	SMR3A	71267232	0.001000	0.12720	0.001000	0.08648	0.213000	0.24496	0.931000	0.28871	0.938000	0.37419	0.561000	0.74099	CCA		PASS	0.532	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		12	52	12	52	---	---	---	---
GK2	2712	broad.mit.edu	37	4	80328533	80328533	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:80328533T>A	ENST00000358842.3	-	1	839	c.822A>T	c.(820-822)caA>caT	p.Q274H		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.Q274H(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGTTTTTGGCTTGTCCCTCCT	0.458																																						uc003hlu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(820-822)CAA>CAT		glycerol kinase 2							122.0	106.0	112.0					4																	80328533		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328533T>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.822A>T	4.37:g.80328533T>A	ENSP00000351706:p.Gln274His						p.Q274H	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	840	-			274					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.822A>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.573092	0.45902	.	.	ENSG00000196475	ENST00000358842	D	0.90385	-2.66	3.92	1.48	0.22813	.	0.138677	0.52532	D	0.000075	D	0.93284	0.7860	M	0.90309	3.105	0.58432	D	0.999998	P	0.47484	0.896	P	0.53649	0.731	D	0.91365	0.5115	10	0.66056	D	0.02	-8.678	7.0508	0.25071	0.0:0.199:0.0:0.801	.	274	Q14410	GLPK2_HUMAN	H	274	ENSP00000351706:Q274H	ENSP00000351706:Q274H	Q	-	3	2	GK2	80547557	0.980000	0.34600	1.000000	0.80357	0.853000	0.48598	0.035000	0.13797	0.345000	0.23873	-0.361000	0.07541	CAA		PASS	0.458	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		15	70	15	70	---	---	---	---
STPG2	285555	broad.mit.edu	37	4	99064295	99064295	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:99064295C>T	ENST00000295268.3	-	1	96	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	3								p.D3N(1)									GGAGCCCGATCATACATAGTG	0.577											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003htt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)GAT>AAT		hypothetical protein LOC285555							28.0	25.0	26.0					4																	99064295		2203	4300	6503	SO:0001583	missense	285555							g.chr4:99064295C>T	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.7G>A	4.37:g.99064295C>T	ENSP00000295268:p.Asp3Asn		OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1340		p.D3N	NM_174952	NP_777612	Q8N412	CD037_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)	1	97	-			3						Missense_Mutation	SNP	ENST00000295268.3	37	c.7G>A	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966546	0.74131	.	.	ENSG00000163116	ENST00000295268	T	0.22134	1.97	5.53	5.53	0.82687	.	0.057139	0.64402	D	0.000006	T	0.40694	0.1127	M	0.76328	2.33	0.31746	N	0.635223	D	0.58268	0.982	P	0.55112	0.769	T	0.53570	-0.8420	10	0.87932	D	0	0.2527	14.9756	0.71269	0.0:1.0:0.0:0.0	.	3	Q8N412	CD037_HUMAN	N	3	ENSP00000295268:D3N	ENSP00000295268:D3N	D	-	1	0	C4orf37	99283318	0.851000	0.29673	0.947000	0.38551	0.246000	0.25737	2.150000	0.42254	2.605000	0.88082	0.650000	0.86243	GAT		PASS	0.577	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		4	14	4	14	---	---	---	---
LRIT3	345193	broad.mit.edu	37	4	110791573	110791573	+	Silent	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:110791573A>T	ENST00000594814.1	+	4	1668	c.1668A>T	c.(1666-1668)ccA>ccT	p.P556P	LRIT3_ENST00000327908.3_Silent_p.P373P|LRIT3_ENST00000409621.2_Silent_p.P373P|LRIT3_ENST00000379920.3_Silent_p.P511P	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	556	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.P511P(1)|p.P373P(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GTGTCTGTCCAAAAGGAGTGC	0.498																																						uc003hzx.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(1531-1533)CCA>CCT		leucine-rich repeat, immunoglobulin-like and							122.0	113.0	116.0					4																	110791573		2203	4300	6503	SO:0001819	synonymous_variant	345193					integral to membrane		g.chr4:110791573A>T	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1668A>T	4.37:g.110791573A>T						LRIT3_uc003hzw.3_Silent_p.P373P	p.P511P	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	3	1726	+			511			Fibronectin type-III.		C9J1C2|Q6ZTG1	Silent	SNP	ENST00000594814.1	37	c.1533A>T	CCDS3688.3																																																																																				PASS	0.498	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		8	42	8	42	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110865119	110865119	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:110865119G>C	ENST00000265171.5	+	4	1076	c.631G>C	c.(631-633)Gat>Cat	p.D211H	EGF_ENST00000503392.1_Missense_Mutation_p.D211H|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.D211H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	211					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.D211H(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GGATGTGCTTGATAAGCGGCT	0.443																																						uc003hzy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(631-633)GAT>CAT		epidermal growth factor precursor	Sulindac(DB00605)						145.0	146.0	146.0					4																	110865119		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110865119G>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.631G>C	4.37:g.110865119G>C	ENSP00000265171:p.Asp211His					EGF_uc011cfu.1_Missense_Mutation_p.D211H|EGF_uc011cfv.1_Missense_Mutation_p.D211H	p.D211H	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	4	1083	+		Hepatocellular(203;0.0893)	211			LDL-receptor class B 3.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.631G>C	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771297	0.31320	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.91521	-2.86;-2.86;-2.86	5.71	2.99	0.34606	Six-bladed beta-propeller, TolB-like (1);	0.503444	0.24276	N	0.039954	D	0.93318	0.7870	M	0.78637	2.42	0.19575	N	0.999963	D;D;D	0.89917	0.98;1.0;0.964	P;D;P	0.69307	0.735;0.963;0.735	D	0.85305	0.1075	10	0.42905	T	0.14	.	6.7316	0.23387	0.2174:0.1278:0.6548:0.0	.	211;211;211	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	H	211	ENSP00000424316:D211H;ENSP00000265171:D211H;ENSP00000421384:D211H	ENSP00000265171:D211H	D	+	1	0	EGF	111084568	0.065000	0.20965	0.021000	0.16686	0.048000	0.14542	1.152000	0.31663	0.324000	0.23333	-0.165000	0.13383	GAT		PASS	0.443	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			10	22	10	22	---	---	---	---
TMEM155	132332	broad.mit.edu	37	4	122682747	122682747	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:122682747G>T	ENST00000337677.5	-	5	716	c.158C>A	c.(157-159)gCa>gAa	p.A53E	AC079341.1_ENST00000424958.1_5'Flank|TMEM155_ENST00000394394.1_Missense_Mutation_p.A53E|TMEM155_ENST00000394396.1_Missense_Mutation_p.A53E	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	53						extracellular region (GO:0005576)		p.A53E(1)		breast(1)|lung(5)	6						CTGGCACCTTGCCATTCCCAG	0.413																																						uc003idx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GCA>GAA		transmembrane protein 155 precursor							68.0	70.0	69.0					4																	122682747		2203	4300	6503	SO:0001583	missense	132332					extracellular region		g.chr4:122682747G>T	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.158C>A	4.37:g.122682747G>T	ENSP00000336987:p.Ala53Glu					TMEM155_uc003idy.1_Missense_Mutation_p.A53E	p.A53E	NM_152399	NP_689612	Q4W5P6	TM155_HUMAN			5	717	-			53					D3DNW9|Q96NI2	Missense_Mutation	SNP	ENST00000337677.5	37	c.158C>A	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831359	0.32329	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394;ENST00000514885	T;T;T;T	0.57907	0.51;0.51;0.51;0.37	4.86	2.17	0.27698	.	0.516425	0.16280	N	0.221405	T	0.31734	0.0806	N	0.19112	0.55	0.22127	N	0.999347	B	0.10296	0.003	B	0.11329	0.006	T	0.22906	-1.0203	10	0.87932	D	0	-0.9697	2.5208	0.04679	0.1128:0.2258:0.5002:0.1612	.	53	Q4W5P6	TM155_HUMAN	E	53	ENSP00000377919:A53E;ENSP00000336987:A53E;ENSP00000377917:A53E;ENSP00000422869:A53E	ENSP00000336987:A53E	A	-	2	0	TMEM155	122902197	0.980000	0.34600	0.988000	0.46212	0.997000	0.91878	0.339000	0.19875	0.725000	0.32318	0.655000	0.94253	GCA		PASS	0.413	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		4	42	4	42	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126328188	126328188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:126328188C>T	ENST00000394329.3	+	3	5474	c.5461C>T	c.(5461-5463)Cag>Tag	p.Q1821*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q119*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1821	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1821*(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGATGGTCTTCAGTCCTCGGA	0.478																																						uc003ifj.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(5461-5463)CAG>TAG		FAT tumor suppressor homolog 4 precursor							158.0	147.0	150.0					4																	126328188		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126328188C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5461C>T	4.37:g.126328188C>T	ENSP00000377862:p.Gln1821*					FAT4_uc011cgp.1_Nonsense_Mutation_p.Q119*	p.Q1821*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			3	5461	+			1821			Cadherin 17.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.5461C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	47	13.394140	0.99739	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.37	5.37	0.77165	.	0.000000	0.33040	U	0.005356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	19.484	0.95022	0.0:1.0:0.0:0.0	.	.	.	.	X	1821;119	.	ENSP00000335169:Q119X	Q	+	1	0	FAT4	126547638	1.000000	0.71417	0.972000	0.41901	0.985000	0.73830	7.428000	0.80296	2.669000	0.90835	0.650000	0.86243	CAG		PASS	0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	83	7	83	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186545038	186545038	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:186545038G>A	ENST00000284776.7	-	13	2042	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000431808.1_Silent_p.S511S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Silent_p.S415S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Silent_p.S611S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	511					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.S511S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTTCGAATTCGGAGATGCGTG	0.572																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1531-1533)TCC>TCT		sorbin and SH3 domain containing 2 isoform 2							103.0	92.0	96.0					4																	186545038		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545038G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1533C>T	4.37:g.186545038G>A						SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.S611S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.S415S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.S625S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.S511S	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2391	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	511					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1533C>T	CCDS3845.1																																																																																				PASS	0.572	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	61	5	61	---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187171402	187171402	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr4:187171402C>T	ENST00000264690.6	+	7	791	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.H202Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	202	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.		H -> Q (in dbSNP:rs4253373). {ECO:0000269|PubMed:11031105, ECO:0000269|Ref.4}.		blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.H202Y(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CACAGGTTGCCACATGAACAT	0.438																																						uc003iyy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(604-606)CAC>TAC		plasma kallikrein B1 precursor							201.0	176.0	185.0					4																	187171402		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187171402C>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.604C>T	4.37:g.187171402C>T	ENSP00000264690:p.His202Tyr					KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.H164Y	p.H202Y	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	7	675	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	202			Apple 3.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.604C>T	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	c	12.36	1.915886	0.33815	.	.	ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715	D;D	0.89123	-2.47;-2.47	5.21	4.35	0.52113	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.893166	0.09749	N	0.760896	D	0.90079	0.6901	L	0.54323	1.7	0.21527	N	0.99965	P;P	0.51449	0.945;0.856	P;B	0.51101	0.659;0.391	T	0.81623	-0.0849	10	0.31617	T	0.26	.	14.2317	0.65898	0.0:0.9269:0.0:0.0731	.	164;202	E7EQA8;P03952	.;KLKB1_HUMAN	Y	202;202;164	ENSP00000264690:H202Y;ENSP00000424469:H202Y	ENSP00000264690:H202Y	H	+	1	0	KLKB1	187408396	0.182000	0.23173	0.998000	0.56505	0.127000	0.20565	1.194000	0.32174	2.714000	0.92807	0.550000	0.68814	CAC		PASS	0.438	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		15	61	15	61	---	---	---	---
CLPTM1L	81037	broad.mit.edu	37	5	1341845	1341845	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:1341845T>C	ENST00000320895.5	-	3	651	c.394A>G	c.(394-396)Acc>Gcc	p.T132A	CLPTM1L_ENST00000320927.6_Missense_Mutation_p.T132A|CLPTM1L_ENST00000507807.1_5'UTR	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	132					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T132A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCATGTAGGTGGTCAGAGGA	0.562																																						uc003jch.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(394-396)ACC>GCC		CLPTM1-like							145.0	123.0	130.0					5																	1341845		2203	4300	6503	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1341845T>C	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.394A>G	5.37:g.1341845T>C	ENSP00000313854:p.Thr132Ala					CLPTM1L_uc003jcg.2_5'UTR	p.T132A	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	3	440	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		132			Extracellular (Potential).		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.394A>G	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455466	0.63401	.	.	ENSG00000049656	ENST00000320895;ENST00000320927	T;T	0.44482	0.95;0.92	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	L	0.48174	1.505	0.80722	D	1	P	0.45986	0.87	P	0.46718	0.525	T	0.19128	-1.0315	10	0.08837	T	0.75	-40.2296	15.4022	0.74849	0.0:0.0:0.0:1.0	.	132	Q96KA5	CLP1L_HUMAN	A	132	ENSP00000313854:T132A;ENSP00000315196:T132A	ENSP00000313854:T132A	T	-	1	0	CLPTM1L	1394845	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.655000	0.54460	2.092000	0.63282	0.533000	0.62120	ACC		PASS	0.562	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		12	66	12	66	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10410379	10410379	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:10410379G>C	ENST00000274140.5	+	18	1814	c.1682G>C	c.(1681-1683)gGa>gCa	p.G561A	MARCH6_ENST00000503788.1_Missense_Mutation_p.G456A|MARCH6_ENST00000449913.2_Missense_Mutation_p.G513A|MARCH6_ENST00000510792.1_Missense_Mutation_p.G259A	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	561					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G561A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GTGACCGCCGGATACTTGCTG	0.527																																						uc003jet.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1681-1683)GGA>GCA		membrane-associated ring finger (C3HC4) 6							98.0	85.0	90.0					5																	10410379		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10410379G>C	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1682G>C	5.37:g.10410379G>C	ENSP00000274140:p.Gly561Ala					MARCH6_uc011cmu.1_Missense_Mutation_p.G513A|MARCH6_uc003jeu.1_Missense_Mutation_p.G259A|MARCH6_uc011cmv.1_Missense_Mutation_p.G456A	p.G561A	NM_005885	NP_005876	O60337	MARH6_HUMAN			18	1865	+			561			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1682G>C	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328786	0.24167	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.57	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	N	0.10916	0.065	0.80722	D	1	P;B;B;P	0.35192	0.461;0.127;0.165;0.489	B;B;B;B	0.35550	0.205;0.043;0.069;0.068	T	0.09862	-1.0655	10	0.02654	T	1	-18.7244	14.8229	0.70087	0.0706:0.0:0.9294:0.0	.	456;513;141;561	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	A	513;456;561;259	ENSP00000414643:G513A;ENSP00000425930:G456A;ENSP00000274140:G561A;ENSP00000424512:G259A	ENSP00000274140:G561A	G	+	2	0	MARCH6	10463379	1.000000	0.71417	0.833000	0.33012	0.331000	0.28603	6.278000	0.72614	2.609000	0.88269	0.563000	0.77884	GGA		PASS	0.527	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		3	35	3	35	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16694532	16694532	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:16694532C>G	ENST00000513610.1	-	27	4202	c.3748G>C	c.(3748-3750)Gaa>Caa	p.E1250Q	MYO10_ENST00000427430.2_Missense_Mutation_p.E607Q|MYO10_ENST00000505695.1_Missense_Mutation_p.E589Q|MYO10_ENST00000274203.9_Missense_Mutation_p.E607Q|MYO10_ENST00000515803.1_Missense_Mutation_p.E589Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1250	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.E1250Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTGTCGTTTTCAAAGTACATC	0.552																																						uc003jft.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3748-3750)GAA>CAA		myosin X							136.0	137.0	137.0					5																	16694532		2004	4177	6181	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694532C>G	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3748G>C	5.37:g.16694532C>G	ENSP00000421280:p.Glu1250Gln					MYO10_uc011cnc.1_Missense_Mutation_p.E129Q|MYO10_uc011cnd.1_Missense_Mutation_p.E607Q|MYO10_uc011cne.1_Missense_Mutation_p.E607Q|MYO10_uc010itx.2_Missense_Mutation_p.E873Q	p.E1250Q	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			27	4216	-			1250			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3748G>C	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121970	0.94429	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.86851	0.6032	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.74023	0.961;0.931;0.982	D	0.87752	0.2592	9	0.66056	D	0.02	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	129;891;1250	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	Q	1250;589;607;589;607	ENSP00000421280:E1250Q;ENSP00000425051:E589Q;ENSP00000274203:E607Q;ENSP00000421170:E589Q;ENSP00000391106:E607Q	ENSP00000274203:E607Q	E	-	1	0	MYO10	16747532	1.000000	0.71417	0.578000	0.28575	0.987000	0.75469	7.818000	0.86416	2.575000	0.86900	0.655000	0.94253	GAA		PASS	0.552	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		9	145	9	145	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35644570	35644570	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:35644570G>A	ENST00000356031.3	+	4	682	c.528G>A	c.(526-528)gaG>gaA	p.E176E	SPEF2_ENST00000282469.6_Silent_p.E176E|SPEF2_ENST00000509059.1_Silent_p.E176E|SPEF2_ENST00000440995.2_Silent_p.E176E	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	176					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.E176D(2)|p.E176E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCATTTTGAGAAACTTGAAA	0.313																																						uc003jjo.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.E176G(1)	lung(4)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(526-528)GAG>GAA		KPL2 protein isoform 1							39.0	40.0	39.0					5																	35644570		2201	4297	6498	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35644570G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.528G>A	5.37:g.35644570G>A						SPEF2_uc003jjn.1_Silent_p.E176E|SPEF2_uc003jjq.3_Silent_p.E176E	p.E176E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	639	+	all_lung(31;7.56e-05)		176					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.528G>A	CCDS43309.1																																																																																				PASS	0.313	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		6	19	6	19	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45645292	45645292	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:45645292C>T	ENST00000303230.4	-	2	901	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	282					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.E282K(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTACCTCTTCCCATTGATGT	0.333																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(844-846)GAA>AAA		hyperpolarization activated cyclic							32.0	33.0	33.0					5																	45645292		2203	4299	6502	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645292C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.844G>A	5.37:g.45645292C>T	ENSP00000307342:p.Glu282Lys						p.E282K	NM_021072	NP_066550	O60741	HCN1_HUMAN			2	869	-			282			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.844G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047173	0.93740	.	.	ENSG00000164588	ENST00000303230	D	0.98617	-5.03	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.64402	D	0.000008	D	0.98277	0.9429	M	0.65975	2.015	0.80722	D	1	P	0.38250	0.624	B	0.44044	0.439	D	0.99819	1.1046	10	0.87932	D	0	.	19.403	0.94639	0.0:1.0:0.0:0.0	.	282	O60741	HCN1_HUMAN	K	282	ENSP00000307342:E282K	ENSP00000307342:E282K	E	-	1	0	HCN1	45681049	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.589000	0.87451	0.650000	0.86243	GAA		PASS	0.333	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		3	8	3	8	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95728791	95728791	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:95728791C>T	ENST00000311106.3	-	14	2413	c.2176G>A	c.(2176-2178)Gat>Aat	p.D726N	PCSK1_ENST00000508626.1_Missense_Mutation_p.D679N|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	726					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D726N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TAAAAAACATCAACATAGTCA	0.403																																						uc003kls.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2176-2178)GAT>AAT		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						139.0	144.0	143.0					5																	95728791		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95728791C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2176G>A	5.37:g.95728791C>T	ENSP00000308024:p.Asp726Asn					PCSK1_uc010jbi.1_Missense_Mutation_p.D416N	p.D726N	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	14	2382	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	726					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.2176G>A	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	36	5.707591	0.96821	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.74209	-0.67;-0.82	6.03	6.03	0.97812	Prohormone convertase enzyme (1);	0.000000	0.85682	D	0.000000	D	0.82495	0.5049	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83009	-0.0173	10	0.87932	D	0	-29.5811	20.1519	0.98089	0.0:1.0:0.0:0.0	.	679;726	E9PHA1;P29120	.;NEC1_HUMAN	N	726;679	ENSP00000308024:D726N;ENSP00000421600:D679N	ENSP00000308024:D726N	D	-	1	0	PCSK1	95754547	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	7.058000	0.76676	2.861000	0.98227	0.655000	0.94253	GAT		PASS	0.403	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		28	78	28	78	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98228350	98228350	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:98228350G>T	ENST00000284049.3	-	14	2208	c.2059C>A	c.(2059-2061)Cac>Aac	p.H687N	RNU6-402P_ENST00000410678.1_RNA	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	687					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.H687N(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGCTCCTTGTGAAGGCTTGCA	0.383																																						uc003knf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(2059-2061)CAC>AAC		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						113.0	113.0	113.0					5																	98228350		2202	4300	6502	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98228350G>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2059C>A	5.37:g.98228350G>T	ENSP00000284049:p.His687Asn						p.H687N	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	14	2207	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	687					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.2059C>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904490	0.92035	.	.	ENSG00000153922	ENST00000284049	D	0.93712	-3.27	5.37	5.37	0.77165	SNF2-related (1);	0.000000	0.35466	U	0.003185	D	0.96608	0.8893	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96734	0.9541	10	0.72032	D	0.01	.	19.4754	0.94985	0.0:0.0:1.0:0.0	.	687	O14646	CHD1_HUMAN	N	687	ENSP00000284049:H687N	ENSP00000284049:H687N	H	-	1	0	CHD1	98256250	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.779000	0.99018	2.683000	0.91414	0.557000	0.71058	CAC		PASS	0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		13	32	13	32	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356289	121356289	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:121356289A>G	ENST00000339397.4	+	6	931	c.859A>G	c.(859-861)Att>Gtt	p.I287V	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2			serum response factor binding protein 1									p.I287V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		CGACTTCTTCATTGGGAAAGT	0.383																																						uc003kst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)ATT>GTT		serum response factor binding protein 1							109.0	97.0	101.0					5																	121356289		1875	4115	5990	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356289A>G	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.859A>G	5.37:g.121356289A>G	ENSP00000341324:p.Ile287Val						p.I287V	NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	931	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	287						Missense_Mutation	SNP	ENST00000339397.4	37	c.859A>G	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	A	9.749	1.166951	0.21621	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.57	4.37	0.52481	.	0.153238	0.64402	D	0.000015	T	0.56108	0.1963	L	0.55743	1.74	0.43846	D	0.996438	B	0.28605	0.217	B	0.24701	0.055	T	0.53351	-0.8451	9	0.44086	T	0.13	-10.671	12.6324	0.56665	0.8616:0.1384:0.0:0.0	.	287	Q8NEF9	SRFB1_HUMAN	V	287	.	ENSP00000341324:I287V	I	+	1	0	SRFBP1	121384188	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	1.926000	0.40084	0.894000	0.36317	0.460000	0.39030	ATT		PASS	0.383	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		17	43	17	43	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128862084	128862084	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:128862084C>A	ENST00000274487.4	+	4	1148	c.1003C>A	c.(1003-1005)Cca>Aca	p.P335T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	335	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P335T(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGTTGCAGACCCAGCAATGGT	0.393																																						uc003kvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1003-1005)CCA>ACA		ADAM metallopeptidase with thrombospondin type 1							110.0	103.0	105.0					5																	128862084		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128862084C>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1003C>A	5.37:g.128862084C>A	ENSP00000274487:p.Pro335Thr					ADAMTS19_uc003kvc.1_RNA	p.P335T	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	4	1003	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	335			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1003C>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487137	0.44249	.	.	ENSG00000145808	ENST00000274487	D	0.86865	-2.18	4.13	3.26	0.37387	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.078831	0.51477	D	0.000085	D	0.85057	0.5610	N	0.25380	0.74	0.46981	D	0.999276	D	0.59357	0.985	P	0.55749	0.783	T	0.83281	-0.0038	9	.	.	.	.	13.0685	0.59046	0.0:0.9197:0.0:0.0803	.	335	Q8TE59	ATS19_HUMAN	T	335	ENSP00000274487:P335T	.	P	+	1	0	ADAMTS19	128889983	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.306000	0.43673	1.333000	0.45449	-0.252000	0.11476	CCA		PASS	0.393	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		10	33	10	33	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140208830	140208830	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:140208830T>C	ENST00000529310.1	+	1	1268	c.1154T>C	c.(1153-1155)gTg>gCg	p.V385A	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.V385A	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	385	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V385A(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGGGCAGGTGAACTGCTCG	0.547																																						uc003lho.2																			2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1153-1155)GTG>GCG		protocadherin alpha 6 isoform 1 precursor							204.0	186.0	192.0					5																	140208830		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140208830T>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1154T>C	5.37:g.140208830T>C	ENSP00000433378:p.Val385Ala					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.V385A|PCDHA6_uc011dab.1_Missense_Mutation_p.V385A	p.V385A	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1181	+			385			Cadherin 4.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1154T>C	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574381	0.28092	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01871	4.59;4.59	3.7	3.7	0.42460	Cadherin (4);Cadherin-like (1);	0.000000	0.33199	U	0.005174	T	0.16128	0.0388	M	0.92738	3.34	0.33665	D	0.610168	D;D;D	0.76494	0.998;0.999;0.989	D;D;P	0.77557	0.96;0.99;0.837	T	0.37820	-0.9689	10	0.72032	D	0.01	.	12.8112	0.57641	0.0:0.0:0.0:1.0	.	385;385;385	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	A	385	ENSP00000433378:V385A;ENSP00000434113:V385A	ENSP00000434113:V385A	V	+	2	0	PCDHA6	140189014	1.000000	0.71417	0.990000	0.47175	0.034000	0.12701	4.990000	0.63876	1.669000	0.50854	0.260000	0.18958	GTG		PASS	0.547	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		31	97	31	97	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209110	140209110	+	Silent	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:140209110T>C	ENST00000529310.1	+	1	1548	c.1434T>C	c.(1432-1434)tcT>tcC	p.S478S	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.S478S	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	478	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S478S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACGGTGTCTGCGCGAGACG	0.647																																						uc003lho.2																			2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1432-1434)TCT>TCC		protocadherin alpha 6 isoform 1 precursor							44.0	52.0	49.0					5																	140209110		2202	4294	6496	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209110T>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1434T>C	5.37:g.140209110T>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.S478S|PCDHA6_uc011dab.1_Silent_p.S478S	p.S478S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1461	+			478			Cadherin 5.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1434T>C	CCDS47281.1																																																																																				PASS	0.647	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		8	21	8	21	---	---	---	---
CAMK2A	815	broad.mit.edu	37	5	149631622	149631622	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:149631622G>T	ENST00000348628.6	-	8	1186	c.521C>A	c.(520-522)gCa>gAa	p.A174E	CAMK2A_ENST00000398376.3_Missense_Mutation_p.A174E	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)	p.A174E(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGAGTCCCTGCAAACCCTGC	0.552																																						uc003lru.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(520-522)GCA>GAA		calcium/calmodulin-dependent protein kinase II							47.0	55.0	52.0					5																	149631622		2045	4191	6236	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149631622G>T	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.521C>A	5.37:g.149631622G>T	ENSP00000261793:p.Ala174Glu					CAMK2A_uc003lrt.2_Missense_Mutation_p.A174E|CAMK2A_uc010jhe.2_Missense_Mutation_p.A154E|CAMK2A_uc010jhf.1_Missense_Mutation_p.Q12K	p.A174E	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	736	-		all_hematologic(541;0.224)	174			Protein kinase.		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.521C>A	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820071	0.90873	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.66099	-0.19;-0.19	5.58	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.076515	0.52532	D	0.000064	T	0.68513	0.3009	N	0.25201	0.72	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.996;0.974;0.998	T	0.73908	-0.3834	10	0.87932	D	0	.	16.0063	0.80363	0.0:0.0:0.8641:0.1359	.	174;174;174	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	E	174	ENSP00000261793:A174E;ENSP00000381412:A174E	ENSP00000261793:A174E	A	-	2	0	CAMK2A	149611815	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.705000	0.98719	1.456000	0.47831	0.655000	0.94253	GCA		PASS	0.552	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		7	20	7	20	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160059368	160059368	+	Missense_Mutation	SNP	C	C	T	rs368107402		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:160059368C>T	ENST00000327245.5	-	13	2234	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	463					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R463Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCTCCAGTCGCTTAGCTGC	0.527																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1387-1389)CGA>CAA		ATPase, class V, type 10B		C	GLN/ARG	2,3856		0,2,1927	102.0	97.0	99.0		1388	5.6	1.0	5		99	1,8247		0,1,4123	no	missense	ATP10B	NM_025153.2	43	0,3,6050	TT,TC,CC		0.0121,0.0518,0.0248	probably-damaging	463/1462	160059368	3,12103	1929	4124	6053	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160059368C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1388G>A	5.37:g.160059368C>T	ENSP00000313600:p.Arg463Gln					ATP10B_uc003lyn.2_Missense_Mutation_p.R21Q	p.R463Q	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	2235	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	463			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1388G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247116	0.95305	5.18E-4	1.21E-4	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.47869	0.83;0.83	5.63	5.63	0.86233	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.67700	2.07	0.50632	D	0.999885	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.66432	-0.5925	9	.	.	.	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	71;463	Q2YDW8;O94823	.;AT10B_HUMAN	Q	463;71	ENSP00000313600:R463Q;ENSP00000431081:R71Q	.	R	-	2	0	ATP10B	159991946	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	5.948000	0.70249	2.652000	0.90054	0.655000	0.94253	CGA		PASS	0.527	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		17	40	17	40	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12163563	12163563	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:12163563C>T	ENST00000379388.2	+	9	7358	c.7026C>T	c.(7024-7026)ccC>ccT	p.P2342P	HIVEP1_ENST00000541134.1_Silent_p.P207P	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2342					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P2342P(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGCACAGCCCCCAGACAGCAG	0.512																																						uc003nac.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(7024-7026)CCC>CCT		human immunodeficiency virus type I enhancer							156.0	163.0	161.0					6																	12163563		2014	4178	6192	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12163563C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7026C>T	6.37:g.12163563C>T						HIVEP1_uc011diq.1_RNA	p.P2342P	NM_002114	NP_002105	P15822	ZEP1_HUMAN			9	7205	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2342					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.7026C>T	CCDS43426.1																																																																																				PASS	0.512	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		6	144	6	144	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29695871	29695871	+	IGR	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:29695871T>C	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000475996.1_3'UTR			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						taccagcatcttgtggggaat	0.478																																						uc011dlx.1																			0					0						c.(1294-1296)TCT>TCC		major histocompatibility complex, class I, F							43.0	39.0	40.0					6																	29695871		876	1991	2867	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29695871T>C	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29695871T>C						HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_Intron|LOC285830_uc011dlz.1_Intron	p.S432S	NM_018950	NP_061823	P30511	HLAF_HUMAN			8	1420	+			Error:Variant_position_missing_in_P30511_after_alignment					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Silent	SNP	ENST00000376861.1	37	c.1296T>C	CCDS43438.1																																																																																				PASS	0.478	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		7	17	7	17	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33154404	33154404	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:33154404C>A	ENST00000395194.1	-	5	1011	c.798G>T	c.(796-798)caG>caT	p.Q266H	COL11A2_ENST00000374712.1_Splice_Site_p.Q266H|COL11A2_ENST00000374714.1_Splice_Site_p.Q266H|COL11A2_ENST00000361917.1_Splice_Site_p.Q266H|COL11A2_ENST00000374708.4_Splice_Site_p.Q266H|COL11A2_ENST00000357486.1_Splice_Site_p.Q266H|COL11A2_ENST00000395197.1_Splice_Site_p.Q266H|COL11A2_ENST00000374713.1_Splice_Site_p.Q266H|COL11A2_ENST00000341947.2_Splice_Site_p.Q266H	NM_001163771.1	NP_001157243.1	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	266	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.Q266H(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCTCCCTCACCTGGCTCTGGG	0.577																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(796-798)CAG>CAT		collagen, type XI, alpha 2 isoform 1							171.0	170.0	170.0					6																	33154404		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33154404C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000395194.1:c.798G>T	6.37:g.33154404C>A	ENSP00000378620:p.Gln266His					COL11A2_uc003ocy.1_Missense_Mutation_p.Q266H|COL11A2_uc003ocz.1_Missense_Mutation_p.Q266H|COL11A2_uc003oda.2_Missense_Mutation_p.Q266H	p.Q266H	NM_080680	NP_542411	P13942	COBA2_HUMAN			5	1026	-			266			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000395194.1	37	c.798G>T	CCDS54992.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126334	0.56721	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	D;D;D;D;D;D;D;D;D;T	0.90620	-2.45;-2.35;-2.45;-2.43;-2.41;-2.42;-2.52;-2.44;-2.7;1.66	4.21	4.21	0.49690	.	0.787555	0.11118	N	0.597768	D	0.88555	0.6468	N	0.22421	0.69	0.32195	N	0.57863	D;D;B;P	0.67145	0.996;0.966;0.004;0.943	D;D;B;D	0.75484	0.986;0.977;0.005;0.948	D	0.84310	0.0510	10	0.45353	T	0.12	.	12.248	0.54581	0.0:1.0:0.0:0.0	.	266;266;266;266	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	H	266	ENSP00000363840:Q266H;ENSP00000339915:Q266H;ENSP00000350079:Q266H;ENSP00000363846:Q266H;ENSP00000363845:Q266H;ENSP00000378623:Q266H;ENSP00000363844:Q266H;ENSP00000355123:Q266H;ENSP00000405520:Q266H;ENSP00000378620:Q266H	ENSP00000339915:Q266H	Q	-	3	2	COL11A2	33262382	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	3.715000	0.54897	2.342000	0.79632	0.442000	0.29010	CAG		PASS	0.577	COL11A2-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276187.1			17	45	17	45	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66205243	66205243	+	Nonsense_Mutation	SNP	C	C	A	rs148294551		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:66205243C>A	ENST00000370621.3	-	4	587	c.61G>T	c.(61-63)Gga>Tga	p.G21*	EYS_ENST00000393380.2_Nonsense_Mutation_p.G21*|EYS_ENST00000370616.2_Nonsense_Mutation_p.G21*|EYS_ENST00000370618.3_Nonsense_Mutation_p.G21*|EYS_ENST00000342421.5_Nonsense_Mutation_p.G21*|EYS_ENST00000503581.1_Nonsense_Mutation_p.G21*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	21					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G21*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATGTTTTTCCATTTATGAAA	0.378																																						uc011dxu.1																			2	Substitution - Nonsense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(61-63)GGA>TGA		eyes shut homolog isoform 1							76.0	76.0	76.0					6																	66205243		2203	4300	6503	SO:0001587	stop_gained	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205243C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.61G>T	6.37:g.66205243C>A	ENSP00000359655:p.Gly21*					EYS_uc003peq.2_Nonsense_Mutation_p.G21*|EYS_uc003per.1_Nonsense_Mutation_p.G21*|EYS_uc010kaj.1_RNA	p.G21*	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	599	-			21					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37	c.61G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.301116	0.97453	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	5.13	3.32	0.38043	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.2679	0.37652	0.0:0.8297:0.0:0.1703	.	.	.	.	X	21	.	ENSP00000341818:G21X	G	-	1	0	EYS	66261964	0.564000	0.26602	0.029000	0.17559	0.416000	0.31233	1.892000	0.39748	0.633000	0.30452	0.591000	0.81541	GGA		PASS	0.378	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		7	22	7	22	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70866115	70866115	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:70866115G>T	ENST00000322773.4	+	32	2278	c.2176G>T	c.(2176-2178)Gcc>Tcc	p.A726S	COL19A1_ENST00000393344.1_Missense_Mutation_p.A348S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	726	Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.A726S(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGATTCCATGGCCCGGAAGGT	0.493																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(2176-2178)GCC>TCC		alpha 1 type XIX collagen precursor							176.0	145.0	155.0					6																	70866115		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866115G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2176G>T	6.37:g.70866115G>T	ENSP00000316030:p.Ala726Ser					COL19A1_uc010kam.1_Missense_Mutation_p.A622S	p.A726S	NM_001858	NP_001849	Q14993	COJA1_HUMAN			32	2293	+			726			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2176G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093728	0.36952	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93659	-3.26;-3.26	5.41	-0.986	0.10252	.	0.350255	0.26314	N	0.025087	T	0.72252	0.3437	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.65356	-0.6188	10	0.87932	D	0	.	1.7187	0.02907	0.306:0.1266:0.4376:0.1299	.	726	Q14993	COJA1_HUMAN	S	726;348	ENSP00000316030:A726S;ENSP00000377013:A348S	ENSP00000316030:A726S	A	+	1	0	COL19A1	70922836	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.118000	0.15605	-0.204000	0.10235	-0.244000	0.11960	GCC		PASS	0.493	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			16	26	16	26	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76022993	76022993	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:76022993A>G	ENST00000237172.7	-	5	2885	c.2555T>C	c.(2554-2556)gTt>gCt	p.V852A	FILIP1_ENST00000370020.1_Missense_Mutation_p.V753A|FILIP1_ENST00000393004.2_Missense_Mutation_p.V852A|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	852								p.V852A(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTGTCTAGAACAGAAGATCT	0.458																																						uc003pia.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2554-2556)GTT>GCT		filamin A interacting protein 1							110.0	120.0	116.0					6																	76022993		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022993A>G	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2555T>C	6.37:g.76022993A>G	ENSP00000237172:p.Val852Ala					FILIP1_uc003phy.1_Missense_Mutation_p.V852A|FILIP1_uc003phz.2_Missense_Mutation_p.V753A|FILIP1_uc010kbe.2_Missense_Mutation_p.V855A|FILIP1_uc003pib.1_Missense_Mutation_p.V604A	p.V852A	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2928	-			852					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2555T>C	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	A	9.526	1.109490	0.20714	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.22539	1.95;1.95;1.96	5.66	5.66	0.87406	.	0.059560	0.64402	D	0.000003	T	0.12347	0.0300	L	0.45581	1.43	0.46317	D	0.998984	B;B;B	0.22276	0.067;0.011;0.019	B;B;B	0.18871	0.012;0.007;0.023	T	0.02424	-1.1161	10	0.72032	D	0.01	-17.321	15.8965	0.79338	1.0:0.0:0.0:0.0	.	852;852;852	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	A	852;852;753	ENSP00000376728:V852A;ENSP00000237172:V852A;ENSP00000359037:V753A	ENSP00000237172:V852A	V	-	2	0	FILIP1	76079713	0.991000	0.36638	0.979000	0.43373	0.687000	0.40016	3.128000	0.50492	2.163000	0.67991	0.460000	0.39030	GTT		PASS	0.458	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		20	60	20	60	---	---	---	---
MRAP2	112609	broad.mit.edu	37	6	84772654	84772654	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:84772654T>C	ENST00000257776.4	+	3	305	c.170T>C	c.(169-171)gTg>gCg	p.V57A		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	57					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.V57A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GCAGTCTTCGTGATTTTTATG	0.403																																						uc003pkg.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(169-171)GTG>GCG		melanocortin 2 receptor accessory protein 2							275.0	244.0	254.0					6																	84772654		2203	4300	6503	SO:0001583	missense	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84772654T>C	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.170T>C	6.37:g.84772654T>C	ENSP00000257776:p.Val57Ala					MRAP2_uc010kbo.2_Intron	p.V57A	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN			3	360	+			57					A8K9M1|Q8IXM9|Q8N2D1	Missense_Mutation	SNP	ENST00000257776.4	37	c.170T>C	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904912	0.92035	.	.	ENSG00000135324	ENST00000257776	D	0.90261	-2.64	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.94079	0.8102	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94876	0.8034	10	0.87932	D	0	-3.8897	16.1699	0.81801	0.0:0.0:0.0:1.0	.	57	Q96G30	MRAP2_HUMAN	A	57	ENSP00000257776:V57A	ENSP00000257776:V57A	V	+	2	0	MRAP2	84829373	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.217000	0.71921	0.533000	0.62120	GTG		PASS	0.403	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		5	32	5	32	---	---	---	---
FHL5	9457	broad.mit.edu	37	6	97058603	97058603	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:97058603C>T	ENST00000326771.2	+	6	1040	c.660C>T	c.(658-660)aaC>aaT	p.N220N	FHL5_ENST00000541107.1_Silent_p.N220N	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	220	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.N220N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TTTATGCCAACAAGTGTGTAG	0.413																																						uc003pos.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(658-660)AAC>AAT		activator of cAMP-responsive element modulator							181.0	171.0	174.0					6																	97058603		2203	4300	6503	SO:0001819	synonymous_variant	9457					nucleus	zinc ion binding	g.chr6:97058603C>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.660C>T	6.37:g.97058603C>T						FHL5_uc003pot.1_Silent_p.N220N	p.N220N	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	6	1065	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	220			LIM zinc-binding 3.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	ENST00000326771.2	37	c.660C>T	CCDS5035.1																																																																																				PASS	0.413	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		13	46	13	46	---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105224980	105224980	+	Missense_Mutation	SNP	T	T	G	rs145211482	byFrequency	TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:105224980T>G	ENST00000262903.4	-	16	1960	c.1684A>C	c.(1684-1686)Att>Ctt	p.I562L	HACE1_ENST00000517995.1_Intron|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	562					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.I562L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTCCTAAAAATAGAATCTAAA	0.333																																						uc003pqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)	7						c.(1684-1686)ATT>CTT		HECT domain and ankyrin repeat containing, E3							76.0	73.0	74.0					6																	105224980		2203	4299	6502	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105224980T>G	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1684A>C	6.37:g.105224980T>G	ENSP00000262903:p.Ile562Leu					HACE1_uc010kcy.1_Missense_Mutation_p.I44L|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Intron|HACE1_uc003pqt.1_Missense_Mutation_p.I215L	p.I562L	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	16	1961	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	562					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.1684A>C	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.08|14.08	2.428381|2.428381	0.43122|0.43122	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000262903|ENST00000518503	T|.	0.41065|.	1.01|.	5.48|5.48	5.48|5.48	0.80851|0.80851	HECT (1);|.	0.045428|.	0.85682|.	D|.	0.000000|.	T|T	0.21145|0.21145	0.0509|0.0509	N|N	0.04043|0.04043	-0.29|-0.29	0.80722|0.80722	D|D	1|1	B;B;B|.	0.09022|.	0.0;0.0;0.002|.	B;B;B|.	0.09377|.	0.0;0.001;0.004|.	T|T	0.23013|0.23013	-1.0200|-1.0200	10|5	0.22109|.	T|.	0.4|.	.|.	15.5749|15.5749	0.76368|0.76368	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	51;562;215|.	B4DFM6;Q8IYU2;Q8IYU2-3|.	.;HACE1_HUMAN;.|.	L|S	562|44	ENSP00000262903:I562L|.	ENSP00000262903:I562L|.	I|Y	-|-	1|2	0|0	HACE1|HACE1	105331673|105331673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.677000|4.677000	0.61634|0.61634	2.066000|2.066000	0.61787|0.61787	0.533000|0.533000	0.62120|0.62120	ATT|TAT		PASS	0.333	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		8	22	8	22	---	---	---	---
RTN4IP1	84816	broad.mit.edu	37	6	107050751	107050751	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:107050751G>C	ENST00000369063.3	-	5	1132	c.667C>G	c.(667-669)Cag>Gag	p.Q223E	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	223						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.Q223E(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GGTTTTACCTGTATAGCAAAA	0.333																																						uc003prj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)CAG>GAG		reticulon 4 interacting protein 1 precursor							73.0	76.0	75.0					6																	107050751		2203	4300	6503	SO:0001583	missense	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107050751G>C	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.667C>G	6.37:g.107050751G>C	ENSP00000358059:p.Gln223Glu					RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.Q123E	p.Q223E	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	5	1144	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	223					Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	c.667C>G	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888449	0.72524	.	.	ENSG00000130347	ENST00000369063	T	0.56275	0.47	4.91	4.91	0.64330	Alcohol dehydrogenase, C-terminal (1);Quinone oxidoreductase/zeta-crystallin, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75608	-0.3259	10	0.87932	D	0	-3.8982	14.9401	0.70986	0.0:0.0:1.0:0.0	.	223	Q8WWV3	RT4I1_HUMAN	E	223	ENSP00000358059:Q223E	ENSP00000358059:Q223E	Q	-	1	0	RTN4IP1	107157444	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.135000	0.64777	2.557000	0.86248	0.585000	0.79938	CAG		PASS	0.333	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			13	44	13	44	---	---	---	---
FYN	2534	broad.mit.edu	37	6	112017519	112017519	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:112017519C>G	ENST00000354650.3	-	10	1609	c.1003G>C	c.(1003-1005)Gag>Cag	p.E335Q	FYN_ENST00000368667.2_Missense_Mutation_p.E335Q|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368678.4_Missense_Mutation_p.E332Q|FYN_ENST00000229471.4_Missense_Mutation_p.E280Q|FYN_ENST00000229470.5_Missense_Mutation_p.E283Q|FYN_ENST00000356013.2_Missense_Mutation_p.E280Q|FYN_ENST00000368682.3_Missense_Mutation_p.E332Q|FYN_ENST00000538466.1_Missense_Mutation_p.E332Q	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E335Q(1)|p.E332Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ATGGGCTCCTCAGACACCACT	0.517																																						uc003pvj.2																			2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)|skin(1)	7						c.(1003-1005)GAG>CAG		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						200.0	160.0	173.0					6																	112017519		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112017519C>G	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1003G>C	6.37:g.112017519C>G	ENSP00000346671:p.Glu335Gln					FYN_uc003pvi.2_Missense_Mutation_p.E280Q|FYN_uc003pvk.2_Missense_Mutation_p.E335Q|FYN_uc003pvh.2_Missense_Mutation_p.E332Q|FYN_uc010kdy.1_Intron	p.E335Q	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	9	1343	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	335			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1003G>C	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454829	0.63290	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.054958	0.64402	D	0.000001	T	0.16428	0.0395	L	0.41710	1.295	0.80722	D	1	B;B;D	0.57571	0.006;0.064;0.98	B;B;P	0.56278	0.007;0.035;0.795	T	0.01156	-1.1434	10	0.31617	T	0.26	.	19.7367	0.96208	0.0:1.0:0.0:0.0	.	335;280;332	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	Q	332;335;280;335;332;283;280;332;283	ENSP00000357671:E332Q;ENSP00000346671:E335Q;ENSP00000229471:E280Q;ENSP00000357656:E335Q;ENSP00000357667:E332Q;ENSP00000229470:E283Q;ENSP00000348295:E280Q;ENSP00000440646:E332Q	ENSP00000229470:E283Q	E	-	1	0	FYN	112124212	1.000000	0.71417	0.940000	0.37924	0.857000	0.48899	7.787000	0.85759	2.656000	0.90262	0.655000	0.94253	GAG		PASS	0.517	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			4	81	4	81	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117700284	117700284	+	Silent	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:117700284C>A	ENST00000368508.3	-	17	2733	c.2535G>T	c.(2533-2535)ctG>ctT	p.L845L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.L840L	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	845					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L845L(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCAACCAATACAGGAGCCCAT	0.393			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(2533-2535)CTG>CTT		proto-oncogene c-ros-1 protein precursor							96.0	88.0	91.0					6																	117700284		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117700284C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2535G>T	6.37:g.117700284C>A						ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.L845L	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	17	2734	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	845			Extracellular (Potential).		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.2535G>T	CCDS5116.1																																																																																				PASS	0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	29	4	29	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118635205	118635205	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:118635205T>A	ENST00000360388.4	+	8	1218	c.1017T>A	c.(1015-1017)taT>taA	p.Y339*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	339					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.Y339*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CAGGACTTTATCTCCTGTCTT	0.478																																						uc003pxx.3																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(1015-1017)TAT>TAA		solute carrier family 35, member F1							170.0	145.0	154.0					6																	118635205		2203	4300	6503	SO:0001587	stop_gained	222553				transport	integral to membrane		g.chr6:118635205T>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1017T>A	6.37:g.118635205T>A	ENSP00000353557:p.Tyr339*					SLC35F1_uc003pxy.1_Nonsense_Mutation_p.Y144*	p.Y339*	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1218	+			339			Helical; (Potential).		E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Nonsense_Mutation	SNP	ENST00000360388.4	37	c.1017T>A	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	T	32	5.135322	0.94517	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.71	-1.93	0.07594	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4407	0.55623	0.0:0.4829:0.0:0.5171	.	.	.	.	X	339	.	ENSP00000353557:Y339X	Y	+	3	2	SLC35F1	118741898	0.989000	0.36119	0.974000	0.42286	0.985000	0.73830	0.135000	0.15952	-0.318000	0.08665	-0.250000	0.11733	TAT		PASS	0.478	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		13	72	13	72	---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138202416	138202416	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:138202416A>G	ENST00000237289.4	+	9	2399	c.2333A>G	c.(2332-2334)tAc>tGc	p.Y778C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	778	Required for lysosomal localization and for TRAF2 lysosomal degradation.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.Y778C(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TGCAACGGCTACTGCAACGAA	0.607			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2				Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		26	Whole gene deletion(25)|Substitution - Missense(1)	p.0?(22)	haematopoietic_and_lymphoid_tissue(25)|lung(1)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(2332-2334)TAC>TGC		tumor necrosis factor, alpha-induced protein 3							76.0	83.0	80.0					6																	138202416		2202	4296	6498	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138202416A>G	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2333A>G	6.37:g.138202416A>G	ENSP00000237289:p.Tyr778Cys					TNFAIP3_uc003qhs.2_Missense_Mutation_p.Y778C	p.Y778C	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	9	2399	+	Breast(32;0.135)|Colorectal(23;0.24)		778			A20-type 7.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.2333A>G	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551315	0.86127	.	.	ENSG00000118503	ENST00000237289	T	0.52526	0.66	5.67	5.67	0.87782	Zinc finger, A20-type (3);	0.000000	0.85682	D	0.000000	T	0.58466	0.2124	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.64158	-0.6473	10	0.87932	D	0	-10.2023	14.4739	0.67535	1.0:0.0:0.0:0.0	.	778	P21580	TNAP3_HUMAN	C	778	ENSP00000237289:Y778C	ENSP00000237289:Y778C	Y	+	2	0	TNFAIP3	138244109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.691000	0.74573	2.158000	0.67659	0.460000	0.39030	TAC		PASS	0.607	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			24	74	24	74	---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152163866	152163866	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:152163866A>G	ENST00000206249.3	+	2	949	c.587A>G	c.(586-588)cAt>cGt	p.H196R	ESR1_ENST00000443427.1_Missense_Mutation_p.H196R|ESR1_ENST00000427531.2_Missense_Mutation_p.H23R|ESR1_ENST00000456483.2_Missense_Mutation_p.H196R|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.H196R|ESR1_ENST00000338799.5_Missense_Mutation_p.H196R	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	196	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H196R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TCAGGCTACCATTATGGAGTC	0.453																																						uc003qom.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(586-588)CAT>CGT		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						139.0	122.0	128.0					6																	152163866		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152163866A>G	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.587A>G	6.37:g.152163866A>G	ENSP00000206249:p.His196Arg					ESR1_uc010kin.2_Missense_Mutation_p.H196R|ESR1_uc010kio.2_Missense_Mutation_p.H196R|ESR1_uc010kip.2_Missense_Mutation_p.H196R|ESR1_uc003qon.3_Missense_Mutation_p.H196R|ESR1_uc003qoo.3_Missense_Mutation_p.H196R|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Missense_Mutation_p.H23R|ESR1_uc011eew.1_Missense_Mutation_p.I28V	p.H196R	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	4	957	+		Ovarian(120;0.0448)	196			NR C4-type.|Nuclear receptor.|Mediates interaction with DNTTIP2.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.587A>G	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.550143|4.550143	0.86127|0.86127	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000347491;ENST00000431590;ENST00000544394|ENST00000427531	D;D;D;D;D;D|.	0.98876|.	-5.2;-5.2;-5.2;-5.2;-5.2;-5.2|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);|.	0.042723|.	0.85682|.	D|.	0.000000|.	D|D	0.90686|0.90686	0.7078|0.7078	H|H	0.99475|0.99475	4.585|4.585	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0|.	D;D;D;D|.	0.97110|.	0.998;1.0;0.999;0.999|.	D|D	0.94657|0.94657	0.7844|0.7844	10|5	0.87932|.	D|.	0|.	.|.	16.635|16.635	0.85050|0.85050	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3;196;196;196|.	B5LY05;A8KAF4;G4XH65;P03372|.	.;.;.;ESR1_HUMAN|.	R|V	196;196;196;196;196;21;124;23|101	ENSP00000405330:H196R;ENSP00000342630:H196R;ENSP00000415934:H196R;ENSP00000387500:H196R;ENSP00000206249:H196R;ENSP00000445454:H23R|.	ENSP00000206249:H196R|.	H|I	+|+	2|1	0|0	ESR1|ESR1	152205559|152205559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.339000|9.339000	0.96797|0.96797	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	CAT|ATT		PASS	0.453	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			11	37	11	37	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152725365	152725365	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:152725365T>C	ENST00000367255.5	-	46	7409	c.6808A>G	c.(6808-6810)Aca>Gca	p.T2270A	SYNE1_ENST00000448038.1_Missense_Mutation_p.T2277A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T2270A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T2307A|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000423061.1_Missense_Mutation_p.T2277A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2270					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.T2270A(2)|p.T2277A(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)		TCTGGCGGTGTTTCTAGATTT	0.353										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(6808-6810)ACA>GCA		spectrin repeat containing, nuclear envelope 1							157.0	161.0	160.0					6																	152725365		2202	4298	6500	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152725365T>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.6808A>G	6.37:g.152725365T>C	ENSP00000356224:p.Thr2270Ala	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.T2277A|SYNE1_uc003qou.3_Missense_Mutation_p.T2270A|SYNE1_uc010kjb.1_Missense_Mutation_p.T2253A	p.T2270A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	46	7410	-		Ovarian(120;0.0955)	2270			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6808A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	9.296	1.051838	0.19827	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.61	5.61	0.85477	.	0.195149	0.35805	N	0.002963	T	0.10551	0.0258	L	0.47716	1.5	0.80722	D	1	B;P;P;B	0.36086	0.435;0.536;0.536;0.288	B;B;B;B	0.31101	0.054;0.118;0.118;0.124	T	0.02774	-1.1112	10	0.08837	T	0.75	.	11.5968	0.50979	0.0:0.0:0.2645:0.7355	.	2253;2270;2270;2277	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	A	2270;2277;2270;2277;2307	ENSP00000356224:T2270A;ENSP00000396024:T2277A;ENSP00000265368:T2270A;ENSP00000390975:T2277A;ENSP00000341887:T2307A	ENSP00000265368:T2270A	T	-	1	0	SYNE1	152767058	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	3.002000	0.49496	2.263000	0.75096	0.377000	0.23210	ACA		PASS	0.353	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	52	10	52	---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154360761	154360761	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:154360761C>T	ENST00000330432.7	+	1	319	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	OPRM1_ENST00000428397.2_Missense_Mutation_p.P28S|OPRM1_ENST00000414028.2_Missense_Mutation_p.P28S|OPRM1_ENST00000360422.4_Missense_Mutation_p.P28S|OPRM1_ENST00000434900.2_Missense_Mutation_p.P121S|OPRM1_ENST00000435918.2_Missense_Mutation_p.P28S|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000452687.2_Missense_Mutation_p.P28S|OPRM1_ENST00000419506.2_Missense_Mutation_p.P28S|OPRM1_ENST00000337049.4_Missense_Mutation_p.P28S|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000229768.5_Missense_Mutation_p.P28S|OPRM1_ENST00000524163.1_Missense_Mutation_p.P28S|OPRM1_ENST00000518759.1_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	28					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.P28S(2)|p.P121S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGCACCCAGCCCCGGTTCCTG	0.652																																						uc003qpr.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(82-84)CCC>TCC		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						41.0	48.0	46.0					6																	154360761		1994	4163	6157	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154360761C>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.82C>T	6.37:g.154360761C>T	ENSP00000328264:p.Pro28Ser					OPRM1_uc011efb.1_Missense_Mutation_p.P76S|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Missense_Mutation_p.P121S|OPRM1_uc003qpn.2_Missense_Mutation_p.P28S|OPRM1_uc003qpo.1_Missense_Mutation_p.P28S|OPRM1_uc011eff.1_Missense_Mutation_p.P28S|OPRM1_uc011efg.1_Missense_Mutation_p.P28S|OPRM1_uc011efh.1_Missense_Mutation_p.P28S|OPRM1_uc003qpq.1_Missense_Mutation_p.P28S|OPRM1_uc003qpt.1_Missense_Mutation_p.P28S|OPRM1_uc011efi.1_Missense_Mutation_p.P28S|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	p.P28S	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	1	319	+		Ovarian(120;0.196)	28			Extracellular (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.82C>T	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	7.666	0.685970	0.14973	.	.	ENSG00000112038	ENST00000520282;ENST00000434900;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049	T;T;T;T;T;T;T;T;T;T;T;T	0.69685	4.14;-0.36;-0.4;-0.36;-0.38;-0.37;-0.42;-0.37;-0.39;-0.38;-0.39;-0.38	5.43	3.62	0.41486	.	.	.	.	.	T	0.17959	0.0431	N	0.08118	0	0.09310	N	0.999998	B;B;B;B;B;B;B;B;B;B;B	0.15473	0.001;0.0;0.0;0.007;0.013;0.0;0.001;0.0;0.001;0.009;0.0	B;B;B;B;B;B;B;B;B;B;B	0.15484	0.006;0.003;0.001;0.01;0.009;0.005;0.002;0.0;0.004;0.013;0.005	T	0.27806	-1.0063	9	0.10902	T	0.67	.	6.2271	0.20714	0.1513:0.6928:0.0:0.1559	.	28;28;28;28;121;28;28;28;28;28;28	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;P35372-6;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	S	76;121;28;28;28;28;28;28;28;28;28;28	ENSP00000430247:P76S;ENSP00000394624:P121S;ENSP00000328264:P28S;ENSP00000353598:P28S;ENSP00000411903:P28S;ENSP00000410497:P28S;ENSP00000229768:P28S;ENSP00000403549:P28S;ENSP00000430097:P28S;ENSP00000399359:P28S;ENSP00000413752:P28S;ENSP00000338381:P28S	ENSP00000229768:P28S	P	+	1	0	OPRM1	154402454	0.004000	0.15560	0.035000	0.18076	0.479000	0.33129	0.586000	0.23894	0.764000	0.33197	0.585000	0.79938	CCC		PASS	0.652	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		5	12	5	12	---	---	---	---
SNX9	51429	broad.mit.edu	37	6	158358489	158358489	+	Silent	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:158358489G>C	ENST00000392185.3	+	15	1638	c.1467G>C	c.(1465-1467)ctG>ctC	p.L489L		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	489	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.L489L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TCCATTTCCTGATGGAATGTA	0.373																																						uc003qqv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1465-1467)CTG>CTC		sorting nexin 9							151.0	145.0	147.0					6																	158358489		2203	4300	6503	SO:0001819	synonymous_variant	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158358489G>C	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1467G>C	6.37:g.158358489G>C							p.L489L	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	15	1640	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	489			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Silent	SNP	ENST00000392185.3	37	c.1467G>C	CCDS5253.1																																																																																				PASS	0.373	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			4	75	4	75	---	---	---	---
MRPL18	29074	broad.mit.edu	37	6	160212095	160212095	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr6:160212095T>C	ENST00000367034.4	+	2	298	c.176T>C	c.(175-177)tTa>tCa	p.L59S	TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000392168.2_5'Flank|TCP1_ENST00000420894.2_5'Flank|MRPL18_ENST00000480842.1_3'UTR|TCP1_ENST00000544255.1_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	59					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)	p.L59S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		CTGGAGCTTTTATCTGTAGCC	0.562																																						uc003qsw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)TTA>TCA		mitochondrial ribosomal protein L18 precursor							29.0	35.0	33.0					6																	160212095		2202	4300	6502	SO:0001583	missense	29074				rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome	g.chr6:160212095T>C	AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.176T>C	6.37:g.160212095T>C	ENSP00000356001:p.Leu59Ser					TCP1_uc003qsr.2_5'Flank|TCP1_uc003qss.2_5'Flank|TCP1_uc010kjz.2_5'Flank|TCP1_uc003qst.2_5'Flank|TCP1_uc010kka.1_5'Flank|MRPL18_uc010kkb.2_RNA	p.L59S	NM_014161	NP_054880	Q9H0U6	RM18_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)	2	304	+		Breast(66;0.000776)|Ovarian(120;0.0303)	59					Q5TAP9|Q9NZW8	Missense_Mutation	SNP	ENST00000367034.4	37	c.176T>C	CCDS5270.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132593	0.77662	.	.	ENSG00000112110	ENST00000367034	T	0.55930	0.49	5.33	5.33	0.75918	.	0.128598	0.50627	D	0.000120	T	0.60143	0.2246	M	0.67953	2.075	0.26895	N	0.967232	D	0.71674	0.998	D	0.64687	0.928	T	0.59300	-0.7480	10	0.87932	D	0	-12.9655	15.4598	0.75346	0.0:0.0:0.0:1.0	.	59	Q9H0U6	RM18_HUMAN	S	59	ENSP00000356001:L59S	ENSP00000356001:L59S	L	+	2	0	MRPL18	160132085	1.000000	0.71417	0.001000	0.08648	0.662000	0.39071	4.259000	0.58828	2.234000	0.73211	0.533000	0.62120	TTA		PASS	0.562	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1			4	16	4	16	---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37136261	37136261	+	Silent	SNP	G	G	T	rs537954210	byFrequency	TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:37136261G>T	ENST00000310758.4	-	15	1910	c.1263C>A	c.(1261-1263)acC>acA	p.T421T	ELMO1_ENST00000341056.3_Silent_p.T123T|ELMO1_ENST00000442504.1_Silent_p.T421T|ELMO1_ENST00000448602.1_Silent_p.T421T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	421	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.T421T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATAGCATCTTGGTCAGCTCTA	0.468																																						uc003tfk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(1261-1263)ACC>ACA		engulfment and cell motility 1 isoform 1							188.0	151.0	163.0					7																	37136261		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37136261G>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1263C>A	7.37:g.37136261G>T						ELMO1_uc011kbc.1_Silent_p.T325T|ELMO1_uc010kxg.1_Silent_p.T421T	p.T421T	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			15	1570	-			421			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.1263C>A	CCDS5449.1																																																																																				PASS	0.468	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		10	43	10	43	---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65429349	65429349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:65429349C>A	ENST00000304895.4	-	11	1880	c.1750G>T	c.(1750-1752)Gag>Tag	p.E584*	GUSB_ENST00000345660.6_Nonsense_Mutation_p.E533*|GUSB_ENST00000421103.1_Nonsense_Mutation_p.E438*	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	584					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.E584*(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAAATGAGCTCTCCAACCACG	0.453																																						uc003tun.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1750-1752)GAG>TAG		glucuronidase, beta precursor							111.0	91.0	98.0					7																	65429349		2203	4300	6503	SO:0001587	stop_gained	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65429349C>A	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1750G>T	7.37:g.65429349C>A	ENSP00000302728:p.Glu584*					GUSB_uc011kdt.1_Nonsense_Mutation_p.E438*	p.E584*	NM_000181	NP_000172	P08236	BGLR_HUMAN			11	1826	-			584					B4E1F6|E9PCV0|Q549U0|Q96CL9	Nonsense_Mutation	SNP	ENST00000304895.4	37	c.1750G>T	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997930	0.93227	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	.	.	.	5.39	5.39	0.77823	.	0.045214	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3127	0.90206	0.0:1.0:0.0:0.0	.	.	.	.	X	584;438;533	.	ENSP00000302728:E584X	E	-	1	0	GUSB	65066784	1.000000	0.71417	0.999000	0.59377	0.559000	0.35586	7.651000	0.83577	2.804000	0.96469	0.650000	0.86243	GAG		PASS	0.453	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		27	104	27	104	---	---	---	---
RABGEF1	27342	broad.mit.edu	37	7	66270167	66270167	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:66270167G>A	ENST00000284957.5	+	8	938	c.861G>A	c.(859-861)aaG>aaA	p.K287K	RABGEF1_ENST00000439720.2_Silent_p.K300K|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_Silent_p.K327K|RABGEF1_ENST00000437078.2_Silent_p.K301K|KCTD7_ENST00000510829.2_Silent_p.K287K|KCTD7_ENST00000451741.2_Silent_p.K287K|RABGEF1_ENST00000450873.2_Silent_p.K287K			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	504					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.K287K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CTCGAGACAAGCTGGCCTGCA	0.463																																						uc011kee.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(901-903)AAG>AAA		RAB guanine nucleotide exchange factor (GEF) 1							113.0	94.0	101.0					7																	66270167		2203	4300	6503	SO:0001819	synonymous_variant	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66270167G>A	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.861G>A	7.37:g.66270167G>A						RABGEF1_uc003tvf.2_Silent_p.K160K|RABGEF1_uc003tvg.2_Silent_p.K95K|RABGEF1_uc010lag.2_Silent_p.K287K|RABGEF1_uc003tvh.2_Silent_p.K287K|RABGEF1_uc003tvi.2_Silent_p.K121K	p.K301K	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			8	1067	+			504			VPS9.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Silent	SNP	ENST00000284957.5	37	c.903G>A	CCDS5535.1																																																																																				PASS	0.463	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		15	34	15	34	---	---	---	---
GNAI1	2770	broad.mit.edu	37	7	79846672	79846672	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:79846672C>G	ENST00000351004.3	+	8	1301	c.928C>G	c.(928-930)Ctc>Gtc	p.L310V	GNAI1_ENST00000457358.2_Missense_Mutation_p.L258V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	310					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.L310V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTTTGAAGACCTCAATAAAAG	0.343																																						uc003uhb.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(928-930)CTC>GTC		guanine nucleotide binding protein (G protein),							108.0	98.0	102.0					7																	79846672		2203	4300	6503	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79846672C>G	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.928C>G	7.37:g.79846672C>G	ENSP00000343027:p.Leu310Val					GNAI1_uc011kgt.1_Missense_Mutation_p.L258V	p.L310V	NM_002069	NP_002060	P63096	GNAI1_HUMAN			8	1265	+			310					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.928C>G	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630782	0.46944	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.88818	-2.43;-2.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.89805	0.6821	L	0.57536	1.79	0.80722	D	1	P	0.36660	0.564	B	0.42827	0.399	D	0.87621	0.2510	9	.	.	.	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	310	P63096	GNAI1_HUMAN	V	310;258	ENSP00000343027:L310V;ENSP00000410572:L258V	.	L	+	1	0	GNAI1	79684608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.204000	0.58460	2.644000	0.89710	0.563000	0.77884	CTC		PASS	0.343	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		7	26	7	26	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963668	88963668	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:88963668C>A	ENST00000333190.4	+	4	1981	c.1372C>A	c.(1372-1374)Cct>Act	p.P458T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	458							metal ion binding (GO:0046872)	p.P458T(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTTCAATGGCCTACGGAACT	0.418										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1372-1374)CCT>ACT		zinc finger protein 804B							74.0	70.0	72.0					7																	88963668		2200	4300	6500	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963668C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1372C>A	7.37:g.88963668C>A	ENSP00000329638:p.Pro458Thr	HNSCC(36;0.09)					p.P458T	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1910	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		458					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1372C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150020	0.78001	.	.	ENSG00000182348	ENST00000333190	T	0.60299	0.2	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	T	0.78880	0.4353	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80540	-0.1337	10	0.87932	D	0	-18.8465	19.5755	0.95441	0.0:1.0:0.0:0.0	.	458	A4D1E1	Z804B_HUMAN	T	458	ENSP00000329638:P458T	ENSP00000329638:P458T	P	+	1	0	ZNF804B	88801604	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.320000	0.79064	2.865000	0.98341	0.655000	0.94253	CCT		PASS	0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		14	57	14	57	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508577	106508577	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:106508577C>A	ENST00000359195.3	+	2	881	c.571C>A	c.(571-573)Cgc>Agc	p.R191S	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R191S|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R191S	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	191					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R191S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGTGGCCAGCCGCGACCCCAA	0.612																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(571-573)CGC>AGC		phosphoinositide-3-kinase, catalytic, gamma							60.0	64.0	63.0					7																	106508577		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508577C>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.571C>A	7.37:g.106508577C>A	ENSP00000352121:p.Arg191Ser					PIK3CG_uc003vdu.2_Missense_Mutation_p.R191S|PIK3CG_uc003vdw.2_Missense_Mutation_p.R191S	p.R191S	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	656	+			191					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.571C>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391477	0.42410	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.73469	-0.75;-0.75;-0.75	5.5	5.5	0.81552	.	0.155813	0.56097	D	0.000024	T	0.78685	0.4322	M	0.70275	2.135	0.58432	D	0.999997	P	0.49358	0.923	P	0.50617	0.646	T	0.77112	-0.2708	10	0.34782	T	0.22	-23.3968	12.8314	0.57748	0.2695:0.7305:0.0:0.0	.	191	P48736	PK3CG_HUMAN	S	191	ENSP00000392258:R191S;ENSP00000419260:R191S;ENSP00000352121:R191S	ENSP00000352121:R191S	R	+	1	0	PIK3CG	106295813	1.000000	0.71417	0.783000	0.31826	0.247000	0.25773	4.805000	0.62561	2.736000	0.93811	0.591000	0.81541	CGC		PASS	0.612	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			14	24	14	24	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107572753	107572753	+	Missense_Mutation	SNP	C	C	T	rs564358099		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:107572753C>T	ENST00000222399.6	-	28	4488	c.4258G>A	c.(4258-4260)Gaa>Aaa	p.E1420K	LAMB1_ENST00000393561.1_Missense_Mutation_p.E1444K|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1420	Domain alpha.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.E1420K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CTCTCTCCTTCGTCAGTTCTG	0.572																																						uc003vew.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(4258-4260)GAA>AAA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						117.0	108.0	111.0					7																	107572753		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107572753C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4258G>A	7.37:g.107572753C>T	ENSP00000222399:p.Glu1420Lys					LAMB1_uc003vev.2_Missense_Mutation_p.E1444K|LAMB1_uc003veu.2_5'Flank	p.E1420K	NM_002291	NP_002282	P07942	LAMB1_HUMAN			28	4593	-			1420			Domain alpha.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4258G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170196	0.78452	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.32023	1.47;1.48	5.58	4.65	0.58169	.	.	.	.	.	T	0.24005	0.0581	L	0.42245	1.32	0.80722	D	1	B;P	0.36837	0.308;0.571	B;B	0.30401	0.047;0.115	T	0.04427	-1.0952	9	0.15952	T	0.53	.	15.933	0.79679	0.0:0.8649:0.1351:0.0	.	1420;1444	P07942;G3XAI2	LAMB1_HUMAN;.	K	1444;1420	ENSP00000377191:E1444K;ENSP00000222399:E1420K	ENSP00000222399:E1420K	E	-	1	0	LAMB1	107359989	0.997000	0.39634	0.901000	0.35422	0.935000	0.57460	3.731000	0.55013	2.627000	0.88993	0.655000	0.94253	GAA		PASS	0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		9	54	9	54	---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107743501	107743502	+	Missense_Mutation	DNP	AG	AG	TA	rs140607116		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:107743501_107743502AG>TA	ENST00000388781.3	-	10	1250_1251	c.1167_1168CT>TA	c.(1165-1170)ccCTac>ccTAac	p.Y390N	LAMB4_ENST00000418464.1_Missense_Mutation_p.Y390N|LAMB4_ENST00000414450.2_Missense_Mutation_p.Y390N|LAMB4_ENST00000205386.4_Missense_Mutation_p.Y390N|LAMB4_ENST00000388780.3_Missense_Mutation_p.Y390N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	390	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.Y390N(2)|p.P389P(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGCACGCGTAGGGATCTGAGA	0.589																																						uc010ljo.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(1168-1170)TAC>AAC|c.(1165-1167)CCC>CCT		laminin, beta 4 precursor																																				SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107743501A>T|g.chr7:107743502G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1167_1168delinsTA	7.37:g.107743501_107743502delinsTA	ENSP00000373433:p.Tyr390Asn					LAMB4_uc003vey.2_Missense_Mutation_p.Y390N|LAMB4_uc003vey.2_Silent_p.P389P	p.Y390N|p.P389P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			10	1252|1251	-			390|389			Laminin EGF-like 2.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation|Silent	SNP	ENST00000388781.3	37	c.1168T>A|c.1167C>T	CCDS34732.1																																																																																				PASS	0.589	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		7	27	7	27	---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112472715	112472715	+	Silent	SNP	T	T	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:112472715T>G	ENST00000297145.4	-	4	654	c.489A>C	c.(487-489)tcA>tcC	p.S163S	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	163							rRNA (adenine) methyltransferase activity (GO:0016433)	p.S163S(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TGATTTTTCCTGAGGCTTGTA	0.328																																						uc003vgo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(487-489)TCA>TCC		hypothetical protein LOC154743							89.0	81.0	83.0					7																	112472715		1803	4076	5879	SO:0001819	synonymous_variant	154743							g.chr7:112472715T>G		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.489A>C	7.37:g.112472715T>G						C7orf60_uc011kms.1_Silent_p.S189S	p.S163S	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			4	616	-			163					Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	c.489A>C	CCDS43634.1																																																																																				PASS	0.328	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		16	44	16	44	---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149129570	149129570	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:149129570A>T	ENST00000247930.4	-	6	2116	c.1793T>A	c.(1792-1794)gTg>gAg	p.V598E		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	598					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.V598E(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCTCCGCGCACGCGGTGGAT	0.672																																						uc003wfv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1792-1794)GTG>GAG		zinc finger protein 777							54.0	60.0	58.0					7																	149129570		2195	4293	6488	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129570A>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1793T>A	7.37:g.149129570A>T	ENSP00000247930:p.Val598Glu						p.V598E	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	1956	-	Melanoma(164;0.165)		598					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1793T>A	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	A	2.540	-0.306548	0.05458	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05025	3.51	4.59	0.898	0.19264	.	0.485106	0.17187	N	0.183680	T	0.02807	0.0084	N	0.05441	-0.05	0.29743	N	0.836948	B	0.29766	0.256	B	0.32289	0.143	T	0.33929	-0.9849	10	0.56958	D	0.05	-11.4367	0.6132	0.00765	0.4487:0.1935:0.195:0.1628	.	598	Q9ULD5-2	.	E	598;341	ENSP00000247930:V598E	ENSP00000247930:V598E	V	-	2	0	ZNF777	148760503	0.419000	0.25449	0.207000	0.23584	0.297000	0.27493	-0.404000	0.07205	0.003000	0.14656	0.377000	0.23210	GTG		PASS	0.672	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		10	35	10	35	---	---	---	---
GIMAP7	168537	broad.mit.edu	37	7	150217426	150217426	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:150217426T>A	ENST00000313543.4	+	2	521	c.364T>A	c.(364-366)Tca>Aca	p.S122T		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	122	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)	p.S122T(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTTGGGAAGTCAGCCATGAA	0.527																																						uc003whk.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(364-366)TCA>ACA		GTPase, IMAP family member 7							76.0	72.0	73.0					7																	150217426		2203	4300	6503	SO:0001583	missense	168537						GTP binding	g.chr7:150217426T>A	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.364T>A	7.37:g.150217426T>A	ENSP00000315474:p.Ser122Thr						p.S122T	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	494	+			122						Missense_Mutation	SNP	ENST00000313543.4	37	c.364T>A	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	T	2.952	-0.216613	0.06101	.	.	ENSG00000179144	ENST00000313543	T	0.05855	3.38	5.09	-10.2	0.00374	AIG1 (1);	1.726360	0.03163	N	0.169580	T	0.03695	0.0105	N	0.16478	0.41	0.09310	N	1	B	0.27625	0.183	B	0.31495	0.131	T	0.20338	-1.0278	10	0.27082	T	0.32	.	6.3695	0.21473	0.0683:0.0823:0.3217:0.5277	.	122	Q8NHV1	GIMA7_HUMAN	T	122	ENSP00000315474:S122T	ENSP00000315474:S122T	S	+	1	0	GIMAP7	149848359	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-4.413000	0.00238	-2.815000	0.00346	-0.886000	0.02939	TCA		PASS	0.527	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		5	43	5	43	---	---	---	---
GIMAP4	55303	broad.mit.edu	37	7	150269977	150269977	+	Silent	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr7:150269977A>G	ENST00000255945.2	+	3	994	c.819A>G	c.(817-819)gaA>gaG	p.E273E	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.E287E	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	273						cytosol (GO:0005829)	GTP binding (GO:0005525)	p.E273E(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGCAGGAAAAGAGAAAGA	0.468																																						uc003whl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(817-819)GAA>GAG		GTPase, IMAP family member 4							105.0	104.0	104.0					7																	150269977		2203	4300	6503	SO:0001819	synonymous_variant	55303						GTP binding	g.chr7:150269977A>G	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.819A>G	7.37:g.150269977A>G						GIMAP4_uc011kuu.1_Silent_p.E134E|GIMAP4_uc011kuv.1_Silent_p.E287E	p.E273E	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	901	+			273			Potential.			Silent	SNP	ENST00000255945.2	37	c.819A>G	CCDS5904.1																																																																																				PASS	0.468	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		8	44	8	44	---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25317909	25317909	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:25317909C>G	ENST00000330560.3	+	3	548	c.71C>G	c.(70-72)tCt>tGt	p.S24C	KCTD9_ENST00000518067.1_5'Flank|CDCA2_ENST00000380665.3_Missense_Mutation_p.S9C|KCTD9_ENST00000221200.4_5'Flank	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	24					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S24C(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGAAATGCCTCTTTCATTTTG	0.428																																						uc003xep.1																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)TCT>TGT		cell division cycle associated 2							259.0	248.0	252.0					8																	25317909		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25317909C>G	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.71C>G	8.37:g.25317909C>G	ENSP00000328228:p.Ser24Cys					PPP2R2A_uc003xek.2_Intron|KCTD9_uc003xeo.2_5'Flank|CDCA2_uc011lae.1_Missense_Mutation_p.S24C|CDCA2_uc003xeq.1_Missense_Mutation_p.S9C	p.S24C	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	3	550	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	24					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.71C>G	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781115	0.49891	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000435898	T;T	0.35048	1.33;1.34	4.86	2.94	0.34122	.	0.335360	0.22014	N	0.065839	T	0.41581	0.1165	M	0.63428	1.95	0.09310	N	1	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.53313	0.723;0.723;0.723	T	0.19976	-1.0289	10	0.44086	T	0.13	-1.6804	5.494	0.16791	0.1954:0.6967:0.0:0.1079	.	24;9;24	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	C	24;9;24	ENSP00000328228:S24C;ENSP00000370040:S9C	ENSP00000328228:S24C	S	+	2	0	CDCA2	25373826	0.002000	0.14202	0.004000	0.12327	0.061000	0.15899	1.524000	0.35942	0.989000	0.38761	0.555000	0.69702	TCT		PASS	0.428	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		28	116	28	116	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39466640	39466640	+	Splice_Site	SNP	G	G	T	rs372552822		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:39466640G>T	ENST00000265707.5	+	4	312		c.e4+1		ADAM18_ENST00000520772.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site|ADAM18_ENST00000541111.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATATTTTATGGTAAAGTAAGA	0.269																																						uc003xni.2																			1	Unknown(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.e4+1		a disintegrin and metalloprotease domain 18							50.0	52.0	51.0					8																	39466640		2190	4281	6471	SO:0001630	splice_region_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39466640G>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.267+1G>T	8.37:g.39466640G>T						ADAM18_uc003xnh.2_Splice_Site_p.M89_splice|ADAM18_uc010lww.2_Splice_Site|ADAM18_uc010lwx.2_Splice_Site_p.M89_splice	p.M89_splice	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		4	267	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)						B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Splice_Site	SNP	ENST00000265707.5	37	c.267_splice	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377567	0.24944	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772;ENST00000522198	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8569	0.63534	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM18	39585797	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	4.312000	0.59154	2.715000	0.92844	0.655000	0.94253	.		PASS	0.269	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	Intron	4	7	4	7	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55542146	55542146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:55542146C>T	ENST00000220676.1	+	4	5852	c.5704C>T	c.(5704-5706)Cag>Tag	p.Q1902*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1902					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.Q1902*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGTACACTTCAGGAAGCTGA	0.398																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(5704-5706)CAG>TAG		retinitis pigmentosa RP1 protein							102.0	99.0	100.0					8																	55542146		2203	4300	6503	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542146C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5704C>T	8.37:g.55542146C>T	ENSP00000220676:p.Gln1902*					RP1_uc011ldy.1_Intron	p.Q1902*	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5852	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1902						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.5704C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	42	9.811359	0.99270	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.91	5.91	0.95273	.	0.000000	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	11.5323	0.50618	0.1393:0.7263:0.1343:0.0	.	.	.	.	X	1902	.	ENSP00000220676:Q1902X	Q	+	1	0	RP1	55704699	0.993000	0.37304	0.998000	0.56505	0.225000	0.24961	1.704000	0.37857	2.802000	0.96397	0.655000	0.94253	CAG		PASS	0.398	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	52	6	52	---	---	---	---
FAM110B	90362	broad.mit.edu	37	8	59058961	59058961	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:59058961A>T	ENST00000361488.3	+	5	1052	c.172A>T	c.(172-174)Aag>Tag	p.K58*	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	58						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K58*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGAGGCCGACAAGGCCAAGTA	0.677																																						uc003xtj.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(172-174)AAG>TAG		hypothetical protein LOC90362							37.0	42.0	40.0					8																	59058961		2203	4300	6503	SO:0001587	stop_gained	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59058961A>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.172A>T	8.37:g.59058961A>T	ENSP00000355204:p.Lys58*						p.K58*	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	1052	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	58					Q5BM08|Q9Y4K2	Nonsense_Mutation	SNP	ENST00000361488.3	37	c.172A>T	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	A	43	10.152622	0.99348	.	.	ENSG00000169122	ENST00000361488	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0425	14.9271	0.70887	1.0:0.0:0.0:0.0	.	.	.	.	X	58	.	.	K	+	1	0	FAM110B	59221515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.125000	0.94402	1.924000	0.55735	0.379000	0.24179	AAG		PASS	0.677	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		8	15	8	15	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72951230	72951230	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:72951230T>C	ENST00000262209.4	-	19	2372	c.2165A>G	c.(2164-2166)aAt>aGt	p.N722S	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	722					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.N722S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGATCCTAAATTCATCATATG	0.348																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(2164-2166)AAT>AGT		ankyrin-like protein 1	Menthol(DB00825)						101.0	102.0	102.0					8																	72951230		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72951230T>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2165A>G	8.37:g.72951230T>C	ENSP00000262209:p.Asn722Ser					uc011lff.1_Intron|uc003xyy.2_Intron	p.N722S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		19	2340	-			722			Helical; Name=1; (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2165A>G	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162234	0.78226	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.78924	-1.22;-1.22	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	M	0.81239	2.535	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	D	0.89101	0.3489	10	0.52906	T	0.07	-28.8545	15.8287	0.78733	0.0:0.0:0.0:1.0	.	722	O75762	TRPA1_HUMAN	S	574;722	ENSP00000428151:N574S;ENSP00000262209:N722S	ENSP00000262209:N722S	N	-	2	0	TRPA1	73113784	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.497000	0.66924	2.201000	0.70794	0.528000	0.53228	AAT		PASS	0.348	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		9	45	9	45	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72963055	72963055	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:72963055A>T	ENST00000262209.4	-	15	2070	c.1863T>A	c.(1861-1863)tgT>tgA	p.C621*	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	621					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.C621*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTAATTGGACATTTATTGC	0.328																																						uc003xza.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1861-1863)TGT>TGA		ankyrin-like protein 1	Menthol(DB00825)						111.0	114.0	113.0					8																	72963055		2202	4298	6500	SO:0001587	stop_gained	8989					integral to plasma membrane		g.chr8:72963055A>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1863T>A	8.37:g.72963055A>T	ENSP00000262209:p.Cys621*					uc011lff.1_Intron|uc003xyy.2_Intron	p.C621*	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		15	2038	-			621			Cytoplasmic (Potential).		A6NIN6	Nonsense_Mutation	SNP	ENST00000262209.4	37	c.1863T>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882691	0.72410	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	4.96	1.34	0.21922	.	0.086343	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6181	8.2836	0.31915	0.769:0.0:0.231:0.0	.	.	.	.	X	473;621	.	ENSP00000262209:C621X	C	-	3	2	TRPA1	73125609	1.000000	0.71417	0.704000	0.30370	0.303000	0.27691	1.870000	0.39529	0.346000	0.23899	0.528000	0.53228	TGT		PASS	0.328	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		5	32	5	32	---	---	---	---
GDAP1	54332	broad.mit.edu	37	8	75275277	75275277	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:75275277A>G	ENST00000220822.7	+	5	763	c.683A>G	c.(682-684)gAa>gGa	p.E228G	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.E160G	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	228	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E228G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			AGAAGAAATGAAGAAACCCCA	0.348																																						uc003yah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)GAA>GGA		ganglioside-induced differentiation-associated							83.0	94.0	90.0					8																	75275277		2203	4299	6502	SO:0001583	missense	54332					cytoplasm		g.chr8:75275277A>G		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.683A>G	8.37:g.75275277A>G	ENSP00000220822:p.Glu228Gly					GDAP1_uc011lfj.1_Missense_Mutation_p.E113G|GDAP1_uc003yai.2_Missense_Mutation_p.E160G	p.E228G	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		5	762	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	228			GST C-terminal.		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	c.683A>G	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818406	0.32145	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.99105	-5.43;-5.42	4.77	4.77	0.60923	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96993	0.9018	L	0.36672	1.1	0.46981	D	0.999276	B	0.15141	0.012	B	0.22386	0.039	D	0.95854	0.8877	10	0.26408	T	0.33	-3.7939	14.7506	0.69522	1.0:0.0:0.0:0.0	.	228	Q8TB36	GDAP1_HUMAN	G	228;160	ENSP00000220822:E228G;ENSP00000417006:E160G	ENSP00000220822:E228G	E	+	2	0	GDAP1	75437832	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.422000	0.59854	2.141000	0.66446	0.533000	0.62120	GAA		PASS	0.348	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		15	63	15	63	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77761266	77761266	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:77761266G>T	ENST00000521891.2	+	7	3995	c.3547G>T	c.(3547-3549)Gtg>Ttg	p.V1183L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.V1138L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V1157L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V1138L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1138					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.V1183L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAAGTTAGTGTGGCAGGGGG	0.388										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3412-3414)GTG>TTG		zinc finger homeodomain 4							31.0	32.0	32.0					8																	77761266		1807	4046	5853	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77761266G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3547G>T	8.37:g.77761266G>T	ENSP00000430497:p.Val1183Leu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.V1183L|ZFHX4_uc003yaw.1_Missense_Mutation_p.V1138L	p.V1138L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		7	3799	+			1138					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3412G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933326	0.34096	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49139	0.79;0.84;0.82;0.81	5.38	5.38	0.77491	.	0.381500	0.18990	U	0.125633	T	0.23727	0.0574	N	0.08118	0	0.28219	N	0.926595	B;B;B	0.12013	0.001;0.005;0.005	B;B;B	0.13407	0.004;0.009;0.009	T	0.08868	-1.0701	10	0.21540	T	0.41	.	5.8336	0.18594	0.1163:0.0:0.6951:0.1885	.	1138;1138;1183	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	1183;1183;1138;1138;1157	ENSP00000430497:V1183L;ENSP00000399605:V1138L;ENSP00000050961:V1138L;ENSP00000430848:V1157L	ENSP00000050961:V1138L	V	+	1	0	ZFHX4	77923821	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.416000	0.59815	2.681000	0.91329	0.650000	0.86243	GTG		PASS	0.388	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	10	4	10	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77765710	77765710	+	Silent	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:77765710C>A	ENST00000521891.2	+	10	7001	c.6553C>A	c.(6553-6555)Cga>Aga	p.R2185R	ZFHX4_ENST00000455469.2_Silent_p.R2140R|ZFHX4_ENST00000518282.1_Silent_p.R2159R|ZFHX4_ENST00000050961.6_Silent_p.R2140R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2140					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.R2169R(1)|p.R2169*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTAAGGAACGACAGAGAAA	0.378										HNSCC(33;0.089)																												uc003yav.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6418-6420)CGA>AGA		zinc finger homeodomain 4							128.0	124.0	125.0					8																	77765710		1844	4090	5934	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765710C>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.6553C>A	8.37:g.77765710C>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.R2185R|ZFHX4_uc003yaw.1_Silent_p.R2140R	p.R2140R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6805	+			2140			Homeobox 1.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.6418C>A	CCDS47878.2																																																																																				PASS	0.378	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	107	8	107	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87679237	87679237	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:87679237C>T	ENST00000320005.5	-	6	815	c.768G>A	c.(766-768)gcG>gcA	p.A256A		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	256					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A256A(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATATGATGTCCGCAATAAGCC	0.438																																						uc003ydx.2																			2	Substitution - coding silent(2)		NS(1)|lung(1)	ovary(2)|pancreas(1)	3						c.(766-768)GCG>GCA		cyclic nucleotide gated channel beta 3							126.0	113.0	118.0					8																	87679237		2203	4300	6503	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87679237C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.768G>A	8.37:g.87679237C>T						CNGB3_uc010maj.2_Silent_p.A118A	p.A256A	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			6	814	-			256			Helical; Name=H2; (Potential).		C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.768G>A	CCDS6244.1																																																																																				PASS	0.438	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		7	42	7	42	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105361034	105361034	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:105361034T>C	ENST00000297581.2	+	2	303	c.254T>C	c.(253-255)gTc>gCc	p.V85A	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.V85A	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	85					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.V85A(1)									ATTCTTCTTGTCTTTCTCTCT	0.473																																						uc003ylx.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(253-255)GTC>GCC		dendritic cell-specific transmembrane protein							83.0	78.0	80.0					8																	105361034		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361034T>C	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.254T>C	8.37:g.105361034T>C	ENSP00000297581:p.Val85Ala						p.V85A	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	303	+			85					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.254T>C	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	T	9.675	1.147777	0.21288	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.32023	1.47	5.84	2.13	0.27403	.	0.262027	0.43747	N	0.000532	T	0.08758	0.0217	N	0.00926	-1.1	0.22866	N	0.998639	B	0.02656	0.0	B	0.01281	0.0	T	0.35798	-0.9774	9	.	.	.	-4.6939	8.4455	0.32838	0.0:0.2216:0.0:0.7784	.	85	Q9H295	TM7S4_HUMAN	A	85	ENSP00000297581:V85A	.	V	+	2	0	TM7SF4	105430210	0.965000	0.33210	0.349000	0.25694	0.460000	0.32559	2.401000	0.44513	0.130000	0.18549	-0.274000	0.10170	GTC		PASS	0.473	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		12	28	12	28	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113246625	113246625	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:113246625A>G	ENST00000297405.5	-	68	10953	c.10709T>C	c.(10708-10710)aTg>aCg	p.M3570T	CSMD3_ENST00000352409.3_Missense_Mutation_p.M3500T|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3401T|CSMD3_ENST00000343508.3_Missense_Mutation_p.M3530T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3570						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M3530T(1)|p.M3570T(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						TTCTTCCTTCATTTTCTTCAC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10708-10710)ATG>ACG		CUB and Sushi multiple domains 3 isoform 1							152.0	150.0	150.0					8																	113246625		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113246625A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10709T>C	8.37:g.113246625A>G	ENSP00000297405:p.Met3570Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.M2772T|CSMD3_uc003ynt.2_Missense_Mutation_p.M3530T|CSMD3_uc011lhx.1_Missense_Mutation_p.M3401T	p.M3570T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			68	10868	-			3570			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10709T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994682	0.54041	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24151	2.18;2.17;2.19;1.87;2.19	5.16	5.16	0.70880	.	0.133497	0.49305	D	0.000146	T	0.15782	0.0380	N	0.08118	0	0.41843	D	0.990135	B;B;B	0.12630	0.002;0.0;0.006	B;B;B	0.20577	0.003;0.0;0.03	T	0.06570	-1.0819	10	0.40728	T	0.16	.	15.1664	0.72828	1.0:0.0:0.0:0.0	.	3401;3570;3530	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	3530;3570;2840;3401;3500	ENSP00000345799:M3530T;ENSP00000297405:M3570T;ENSP00000341558:M2840T;ENSP00000412263:M3401T;ENSP00000343124:M3500T	ENSP00000297405:M3570T	M	-	2	0	CSMD3	113315801	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.950000	0.75977	2.173000	0.68751	0.533000	0.62120	ATG		PASS	0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	53	16	53	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131812807	131812807	+	Silent	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:131812807A>T	ENST00000286355.5	-	15	5017	c.2925T>A	c.(2923-2925)tcT>tcA	p.S975S	ADCY8_ENST00000377928.3_Silent_p.S844S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	975					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.S975S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CATAGGATTGAGAATACAGCT	0.502										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - coding silent(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2923-2925)TCT>TCA		adenylate cyclase 8							125.0	110.0	115.0					8																	131812807		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131812807A>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2925T>A	8.37:g.131812807A>T		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.S844S	p.S975S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		15	3181	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		975			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.2925T>A	CCDS6363.1																																																																																				PASS	0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			12	48	12	48	---	---	---	---
TG	7038	broad.mit.edu	37	8	134042191	134042191	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:134042191G>C	ENST00000220616.4	+	41	7202	c.7162G>C	c.(7162-7164)Ggg>Cgg	p.G2388R	TG_ENST00000542445.1_Missense_Mutation_p.G758R|TG_ENST00000377869.1_Missense_Mutation_p.G2331R|TG_ENST00000519543.1_Missense_Mutation_p.G521R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2388					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.G2388R(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)		AGACCGTGGCGGGGCTGATGT	0.642																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7162-7164)GGG>CGG		thyroglobulin precursor							65.0	65.0	65.0					8																	134042191		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134042191G>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.7162G>C	8.37:g.134042191G>C	ENSP00000220616:p.Gly2388Arg					TG_uc010mdw.2_Missense_Mutation_p.G1147R|TG_uc011ljb.1_Missense_Mutation_p.G757R|TG_uc011ljc.1_Missense_Mutation_p.G521R	p.G2388R	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7203	+	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)	2388					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7162G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.449976|4.449976	0.84101|0.84101	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	D;D;D;D|.	0.97772|.	-4.53;-4.53;-4.53;-4.53|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Carboxylesterase, type B (1);|.	0.069203|.	0.56097|.	D|.	0.000026|.	D|D	0.90885|0.90885	0.7136|0.7136	H|H	0.98996|0.98996	4.395|4.395	0.54753|0.54753	D|D	0.999988|0.999988	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.94622|0.94622	0.7814|0.7814	10|5	0.87932|.	D|.	0|.	.|.	17.2154|17.2154	0.86941|0.86941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	521;758;2388|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	R|P	2331;1194;2388;758;521|843;183	ENSP00000367100:G2331R;ENSP00000220616:G2388R;ENSP00000441693:G758R;ENSP00000430430:G521R|.	ENSP00000220616:G2388R|.	G|R	+|+	1|2	0|0	TG|TG	134111373|134111373	1.000000|1.000000	0.71417|0.71417	0.768000|0.768000	0.31515|0.31515	0.932000|0.932000	0.56968|0.56968	4.979000|4.979000	0.63806|0.63806	2.407000|2.407000	0.81776|0.81776	0.485000|0.485000	0.47835|0.47835	GGG|CGG		PASS	0.642	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		7	9	7	9	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143996220	143996220	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:143996220T>G	ENST00000323110.2	-	4	702	c.700A>C	c.(700-702)Acc>Ccc	p.T234P		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	234					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)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.T234P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AGCTGGACGGTGGATTTGAAC	0.582									Familial Hyperaldosteronism type I																													uc003yxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)ACC>CCC		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						35.0	33.0	34.0					8																	143996220		2203	4298	6501	SO:0001583	missense	1585	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|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996220T>G	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.700A>C	8.37:g.143996220T>G	ENSP00000325822:p.Thr234Pro						p.T234P	NM_000498	NP_000489	P19099	C11B2_HUMAN			4	703	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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)		234					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.700A>C	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	19.90	3.912783	0.72983	.	.	ENSG00000179142	ENST00000323110	T	0.68479	-0.33	3.89	3.89	0.44902	.	0.000000	0.52532	D	0.000067	T	0.80265	0.4591	M	0.82056	2.57	0.51012	D	0.999909	D	0.89917	1.0	D	0.91635	0.999	T	0.81575	-0.0870	10	0.54805	T	0.06	.	10.7142	0.46002	0.0:0.0:0.0:1.0	.	234	P19099	C11B2_HUMAN	P	234	ENSP00000325822:T234P	ENSP00000325822:T234P	T	-	1	0	CYP11B2	143993222	1.000000	0.71417	0.742000	0.31022	0.947000	0.59692	6.097000	0.71452	1.632000	0.50472	0.459000	0.35465	ACC		PASS	0.582	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			10	10	10	10	---	---	---	---
OPLAH	26873	broad.mit.edu	37	8	145109735	145109735	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:145109735C>G	ENST00000426825.1	-	18	2572	c.2491G>C	c.(2491-2493)Gac>Cac	p.D831H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	831					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.D831H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGTCAGGTCTGGCAGGTGG	0.652																																						uc003zar.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2491-2493)GAC>CAC		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						28.0	35.0	33.0					8																	145109735		2139	4253	6392	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145109735C>G	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2491G>C	8.37:g.145109735C>G	ENSP00000475943:p.Asp831His					OPLAH_uc003zas.1_Missense_Mutation_p.D80H	p.D831H	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		18	2573	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		831					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2491G>C		.	.	.	.	.	.	.	.	.	.	C	16.90	3.251319	0.59212	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.80549	0.4644	.	.	.	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	T	0.83066	-0.0145	7	0.87932	D	0	.	16.7456	0.85470	0.0:1.0:0.0:0.0	.	831	O14841	OPLA_HUMAN	H	831	.	ENSP00000412071:D831H	D	-	1	0	OPLAH	145181723	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.265000	0.65519	2.553000	0.86117	0.655000	0.94253	GAC		PASS	0.652	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		3	12	3	12	---	---	---	---
ZNF251	90987	broad.mit.edu	37	8	145947489	145947489	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr8:145947489C>T	ENST00000292562.7	-	5	1831	c.1556G>A	c.(1555-1557)aGa>aAa	p.R519K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	519					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.R476K(1)|p.R519K(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACCATGTTTTCTGCACTTACG	0.527																																						uc003zdv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1555-1557)AGA>AAA		zinc finger protein 251							93.0	101.0	98.0					8																	145947489		2176	4294	6470	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947489C>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1556G>A	8.37:g.145947489C>T	ENSP00000292562:p.Arg519Lys						p.R519K	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1812	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		519					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1556G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	9.318	1.057426	0.19907	.	.	ENSG00000198169	ENST00000292562	T	0.14022	2.54	1.13	0.21	0.15231	.	.	.	.	.	T	0.02767	0.0083	N	0.00630	-1.315	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.44559	-0.9320	9	0.08381	T	0.77	0.9928	3.635	0.08146	0.0:0.511:0.0:0.489	.	519	Q9BRH9	ZN251_HUMAN	K	519	ENSP00000292562:R519K	ENSP00000292562:R519K	R	-	2	0	ZNF251	145918298	0.000000	0.05858	0.001000	0.08648	0.457000	0.32468	0.010000	0.13242	0.056000	0.16144	0.563000	0.77884	AGA		PASS	0.527	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		5	93	5	93	---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5066761	5066761	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr9:5066761A>G	ENST00000381652.3	+	10	1792	c.1298A>G	c.(1297-1299)aAt>aGt	p.N433S	JAK2_ENST00000539801.1_Missense_Mutation_p.N433S|JAK2_ENST00000544510.1_Missense_Mutation_p.N284S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	433	SH2; atypical. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.N433S(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAGGACTTTAATAAATATTTT	0.328		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(1297-1299)AAT>AGT		Janus kinase 2							60.0	61.0	61.0					9																	5066761		2203	4298	6501	SO:0001583	missense	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5066761A>G		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1298A>G	9.37:g.5066761A>G	ENSP00000371067:p.Asn433Ser					JAK2_uc003ziw.2_Missense_Mutation_p.N433S	p.N433S	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	9	1411	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	433			SH2; atypical.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.1298A>G	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459235	0.63401	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.88896	-2.44;-2.44;-2.44	5.65	5.65	0.86999	SH2 motif (4);	0.086149	0.85682	D	0.000000	D	0.88247	0.6385	M	0.61703	1.905	0.49798	D	0.999822	B	0.29378	0.243	B	0.31442	0.13	D	0.87055	0.2149	10	0.59425	D	0.04	-24.7456	15.5315	0.75968	1.0:0.0:0.0:0.0	.	433	O60674	JAK2_HUMAN	S	433;433;284	ENSP00000440387:N433S;ENSP00000371067:N433S;ENSP00000443103:N284S	ENSP00000371067:N433S	N	+	2	0	JAK2	5056761	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.894000	0.92506	2.137000	0.66172	0.455000	0.32223	AAT		PASS	0.328	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			5	9	5	9	---	---	---	---
NFIB	4781	broad.mit.edu	37	9	14307382	14307382	+	Silent	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr9:14307382T>A	ENST00000380959.3	-	2	641	c.168A>T	c.(166-168)gcA>gcT	p.A56A	NFIB_ENST00000380953.1_Silent_p.A56A|NFIB_ENST00000380921.3_Silent_p.A56A|NFIB_ENST00000380934.4_Silent_p.A82A|NFIB_ENST00000397575.3_Silent_p.A56A|NFIB_ENST00000397579.2_Silent_p.A56A|NFIB_ENST00000397581.2_Silent_p.A56A	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	56					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A56A(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CATCTTTGACTGCTCTTTCTT	0.453			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		2	Substitution - coding silent(2)		lung(2)		0						c.(166-168)GCA>GCT		nuclear factor I/B							158.0	146.0	150.0					9																	14307382		2203	4300	6503	SO:0001819	synonymous_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307382T>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.168A>T	9.37:g.14307382T>A						NFIB_uc003zlf.2_Silent_p.A56A|NFIB_uc011lmo.1_Silent_p.A56A	p.A56A	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	603	-			56			CTF/NF-I.		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	c.168A>T	CCDS6474.1																																																																																				PASS	0.453	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		10	28	10	28	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27206656	27206656	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr9:27206656C>A	ENST00000380036.4	+	15	2883	c.2441C>A	c.(2440-2442)aCa>aAa	p.T814K	TEK_ENST00000519097.1_Missense_Mutation_p.T666K|TEK_ENST00000406359.4_Missense_Mutation_p.T771K	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	814					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T814K(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CCAGATCCTACAATTTATCCA	0.438																																						uc003zqi.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(2440-2442)ACA>AAA		TEK tyrosine kinase, endothelial precursor							77.0	75.0	76.0					9																	27206656		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27206656C>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2441C>A	9.37:g.27206656C>A	ENSP00000369375:p.Thr814Lys					TEK_uc011lno.1_Missense_Mutation_p.T771K|TEK_uc011lnp.1_Missense_Mutation_p.T666K|TEK_uc003zqj.1_Missense_Mutation_p.T748K	p.T814K	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	15	2883	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	814			Cytoplasmic (Potential).		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2441C>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300871	0.40694	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.73469	-0.73;-0.73;-0.75	5.9	4.07	0.47477	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000065	T	0.57636	0.2067	L	0.44542	1.39	0.35245	D	0.778207	P;B;B;P	0.43519	0.809;0.248;0.006;0.497	B;B;B;B	0.25987	0.065;0.015;0.001;0.016	T	0.67015	-0.5777	10	0.59425	D	0.04	.	8.3351	0.32211	0.0:0.7377:0.1286:0.1338	.	666;847;771;814	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	K	666;814;771	ENSP00000430686:T666K;ENSP00000369375:T814K;ENSP00000383977:T771K	ENSP00000369375:T814K	T	+	2	0	TEK	27196656	0.962000	0.33011	0.565000	0.28409	0.970000	0.65996	3.652000	0.54439	0.849000	0.35215	-0.169000	0.13324	ACA		PASS	0.438	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			15	11	15	11	---	---	---	---
PAX5	5079	broad.mit.edu	37	9	36846882	36846882	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr9:36846882A>T	ENST00000358127.4	-	9	1131	c.1057T>A	c.(1057-1059)Tcg>Acg	p.S353T	PAX5_ENST00000523145.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.S245T|PAX5_ENST00000414447.1_Missense_Mutation_p.S310T|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.S253T|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523241.1_Silent_p.P275P|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.S319T	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	353					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(11)|p.S353T(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TCGTTGTACGAGGAATACTGA	0.592			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1				Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	12	Unknown(11)|Substitution - Missense(1)	p.?(11)	haematopoietic_and_lymphoid_tissue(11)|lung(1)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(1057-1059)TCG>ACG		paired box 5							68.0	67.0	67.0					9																	36846882		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36846882A>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.1057T>A	9.37:g.36846882A>T	ENSP00000350844:p.Ser353Thr					PAX5_uc011lpt.1_Missense_Mutation_p.S149T|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.S253T|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.S310T|PAX5_uc011lqa.1_Missense_Mutation_p.S245T|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.S319T|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Silent_p.P275P	p.S353T	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	9	1505	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	353					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.1057T>A	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	A	4.380	0.070072	0.08436	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377852;ENST00000446742;ENST00000522003;ENST00000414447;ENST00000524340	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.52	4.38	0.52667	.	0.317452	0.29616	N	0.011655	T	0.12178	0.0296	N	0.02802	-0.49	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.12837	0.003;0.002;0.008;0.001;0.004	T	0.10019	-1.0648	10	0.16896	T	0.51	.	8.8333	0.35098	0.6689:0.0:0.0:0.3311	.	310;253;180;319;353	C0KTF7;C0KTF9;C0KTE2;Q6S731;Q02548	.;.;.;.;PAX5_HUMAN	T	353;264;319;253;245;310;180	ENSP00000350844:S353T;ENSP00000367083:S319T;ENSP00000404687:S253T;ENSP00000429359:S245T;ENSP00000412188:S310T;ENSP00000429404:S180T	ENSP00000350844:S353T	S	-	1	0	PAX5	36836882	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.349000	0.52217	0.913000	0.36797	0.459000	0.35465	TCG		PASS	0.592	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			10	19	10	19	---	---	---	---
FOXB2	442425	broad.mit.edu	37	9	79635629	79635629	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr9:79635629C>T	ENST00000376708.1	+	1	1059	c.1059C>T	c.(1057-1059)caC>caT	p.H353H		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	353					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H353H(2)|p.H219H(1)		breast(1)|lung(8)|ovary(1)	10						CCCTGTGCCACTCGGCAAGCC	0.746																																						uc004ako.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(1057-1059)CAC>CAT		forkhead box B2							8.0	10.0	9.0					9																	79635629		2127	4181	6308	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635629C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.1059C>T	9.37:g.79635629C>T							p.H353H	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	1059	+			353						Silent	SNP	ENST00000376708.1	37	c.1059C>T	CCDS35045.1																																																																																				PASS	0.746	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		3	3	3	3	---	---	---	---
NCBP1	4686	broad.mit.edu	37	9	100433431	100433431	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr9:100433431G>C	ENST00000375147.3	+	23	2579	c.2323G>C	c.(2323-2325)Gac>Cac	p.D775H		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	775					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)	p.D775H(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TGCTGAATTAGACCCTCATAT	0.438																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2323-2325)GAC>CAC		nuclear cap binding protein subunit 1, 80kDa							165.0	146.0	153.0					9																	100433431		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100433431G>C	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2323G>C	9.37:g.100433431G>C	ENSP00000364289:p.Asp775His						p.D775H	NM_002486	NP_002477	Q09161	NCBP1_HUMAN			23	2782	+		Acute lymphoblastic leukemia(62;0.158)	775					B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.2323G>C	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776861	0.90195	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.33	5.33	0.75918	Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.77191	0.4094	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78555	-0.2159	9	0.72032	D	0.01	-8.5526	18.1706	0.89744	0.0:0.0:1.0:0.0	.	775	Q09161	NCBP1_HUMAN	H	775	.	ENSP00000364289:D775H	D	+	1	0	NCBP1	99473252	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.370000	0.97159	2.663000	0.90544	0.655000	0.94253	GAC		PASS	0.438	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		13	50	13	50	---	---	---	---
TMEFF1	8577	broad.mit.edu	37	9	103261052	103261052	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr9:103261052A>G	ENST00000374879.4	+	2	634	c.202A>G	c.(202-204)Aat>Gat	p.N68D	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.K31R|TMEFF1_ENST00000334943.6_Missense_Mutation_p.N29D	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	68					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N68D(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGCAGAATTAAATGTGAGGGA	0.363																																						uc004baz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)AAT>GAT		transmembrane protein with EGF-like and two							121.0	125.0	124.0					9																	103261052		2203	4300	6503	SO:0001583	missense	8577				multicellular organismal development	integral to membrane|plasma membrane		g.chr9:103261052A>G	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.202A>G	9.37:g.103261052A>G	ENSP00000364013:p.Asn68Asp					TMEFF1_uc004bay.1_Missense_Mutation_p.N142D	p.N68D	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN			2	312	+		Acute lymphoblastic leukemia(62;0.0452)	68			Extracellular (Potential).		Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	c.202A>G	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.98|16.98	3.270289|3.270289	0.59540|0.59540	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.56444	.|0.46;0.49	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.175681	.|0.51477	.|D	.|0.000093	T|T	0.26159|0.26159	0.0638|0.0638	N|N	0.01576|0.01576	-0.805|-0.805	0.36942|0.36942	D|D	0.892418|0.892418	.|B;B	.|0.27732	.|0.002;0.187	.|B;B	.|0.24701	.|0.002;0.055	T|T	0.34329|0.34329	-0.9833|-0.9833	5|10	.|0.25751	.|T	.|0.34	-22.1965|-22.1965	14.3097|14.3097	0.66407|0.66407	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|68;29	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	R|D	31|29;68	.|ENSP00000334447:N29D;ENSP00000364013:N68D	.|ENSP00000334447:N29D	K|N	+|+	2|1	0|0	C9orf30-TMEFF1|TMEFF1	102300873|102300873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.771000|4.771000	0.62318|0.62318	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	AAA|AAT		PASS	0.363	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		3	41	3	41	---	---	---	---
OR13C9	286362	broad.mit.edu	37	9	107380010	107380010	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr9:107380010T>C	ENST00000259362.1	-	1	475	c.476A>G	c.(475-477)cAa>cGa	p.Q159R		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q159R(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AAATGTAGTTTGTACTGCAGA	0.438																																						uc011lvr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)CAA>CGA		olfactory receptor, family 13, subfamily C,							120.0	105.0	110.0					9																	107380010		2203	4300	6503	SO:0001583	missense	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107380010T>C		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.476A>G	9.37:g.107380010T>C	ENSP00000259362:p.Gln159Arg						p.Q159R	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			1	476	-			159			Helical; Name=4; (Potential).		Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	c.476A>G	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.275708	0.23307	.	.	ENSG00000136839	ENST00000259362	T	0.00115	8.71	4.51	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000206	T	0.00384	0.0012	M	0.75884	2.315	0.09310	N	1	D	0.60575	0.988	D	0.66979	0.948	T	0.38929	-0.9638	10	0.87932	D	0	.	8.1122	0.30922	0.0:0.0975:0.0:0.9025	.	159	Q8NGT0	O13C9_HUMAN	R	159	ENSP00000259362:Q159R	ENSP00000259362:Q159R	Q	-	2	0	OR13C9	106419831	0.614000	0.27017	0.526000	0.27913	0.140000	0.21249	1.516000	0.35856	0.747000	0.32809	0.523000	0.50628	CAA		PASS	0.438	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			22	47	22	47	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16893354	16893354	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr10:16893354C>A	ENST00000377833.4	-	60	9608	c.9543G>T	c.(9541-9543)aaG>aaT	p.K3181N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3181	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.K3181N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTTTAAATTCTTGTCATACA	0.408																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9541-9543)AAG>AAT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						124.0	113.0	117.0					10																	16893354		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16893354C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9543G>T	10.37:g.16893354C>A	ENSP00000367064:p.Lys3181Asn					CUBN_uc009xjq.1_RNA	p.K3181N	NM_001081	NP_001072	O60494	CUBN_HUMAN			60	9595	-			3181			CUB 24.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.9543G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	4.229	0.041330	0.08196	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.44881	0.91	5.26	1.08	0.20341	CUB (5);	0.000000	0.41194	D	0.000928	T	0.14013	0.0339	N	0.03115	-0.41	0.09310	N	1	B	0.24092	0.097	B	0.21360	0.034	T	0.10730	-1.0617	10	0.22706	T	0.39	.	1.8224	0.03113	0.141:0.4429:0.1227:0.2934	.	3181	O60494	CUBN_HUMAN	N	3181;22	ENSP00000367064:K3181N	ENSP00000367064:K3181N	K	-	3	2	CUBN	16933360	0.000000	0.05858	0.127000	0.21898	0.675000	0.39556	-0.643000	0.05421	0.156000	0.19299	0.313000	0.20887	AAG		PASS	0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		21	22	21	22	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17363099	17363099	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr10:17363099C>T	ENST00000377602.4	-	8	1049	c.975G>A	c.(973-975)ttG>ttA	p.L325L		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	325					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.L325L(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTGTGATCATCAAGCCGGTGG	0.443																																						uc001ipd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(973-975)TTG>TTA		ST8 alpha-N-acetyl-neuraminide							170.0	164.0	166.0					10																	17363099		2203	4300	6503	SO:0001819	synonymous_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363099C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.975G>A	10.37:g.17363099C>T						ST8SIA6_uc010qce.1_RNA	p.L325L	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			8	975	-			325			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	c.975G>A	CCDS31158.1																																																																																				PASS	0.443	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		47	71	47	71	---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30602551	30602551	+	Missense_Mutation	SNP	C	C	G	rs148562969	byFrequency	TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr10:30602551C>G	ENST00000263063.4	-	9	1779	c.1736G>C	c.(1735-1737)aGt>aCt	p.S579T	MTPAP_ENST00000358107.4_Missense_Mutation_p.S709T|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	579					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.S579T(1)|p.S709T(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGTCTGAGTACTAATTGTTCT	0.358																																						uc001iva.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1735-1737)AGT>ACT		PAP associated domain containing 1 precursor							150.0	151.0	151.0					10																	30602551		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30602551C>G	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1736G>C	10.37:g.30602551C>G	ENSP00000263063:p.Ser579Thr					MTPAP_uc001ivb.3_Missense_Mutation_p.S709T	p.S579T	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN			9	1799	-			579					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1736G>C	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979530	0.34942	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.33216	2.09;1.42	5.55	3.6	0.41247	.	0.435787	0.23543	N	0.047054	T	0.18964	0.0455	N	0.22421	0.69	0.09310	N	1	B;B	0.33637	0.42;0.068	B;B	0.29176	0.099;0.014	T	0.14896	-1.0456	10	0.51188	T	0.08	-9.5024	10.3701	0.44049	0.0:0.7924:0.1339:0.0737	.	709;579	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	T	709;579	ENSP00000350820:S709T;ENSP00000263063:S579T	ENSP00000263063:S579T	S	-	2	0	MTPAP	30642557	0.165000	0.22948	0.021000	0.16686	0.157000	0.22087	1.821000	0.39041	1.488000	0.48433	0.655000	0.94253	AGT		PASS	0.358	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		35	61	35	61	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38344864	38344864	+	Silent	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr10:38344864A>T	ENST00000458705.2	+	5	1967	c.1809A>T	c.(1807-1809)acA>acT	p.T603T	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Silent_p.T604T|ZNF33A_ENST00000307441.9_Silent_p.T603T|ZNF33A_ENST00000432900.2_Silent_p.T610T			Q06730	ZN33A_HUMAN	zinc finger protein 33A	603					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.T603T(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GAACACATACAGGGGAGAAAC	0.373																																						uc001izh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1807-1809)ACA>ACT		zinc finger protein 33A isoform b							70.0	68.0	68.0					10																	38344864		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344864A>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1809A>T	10.37:g.38344864A>T						ZNF33A_uc001izg.2_Silent_p.T604T|ZNF33A_uc010qev.1_Silent_p.T610T|ZNF33A_uc001izi.1_Intron	p.T603T	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	1987	+			603					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.1809A>T	CCDS31182.1																																																																																				PASS	0.373	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		14	25	14	25	---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50819812	50819812	+	Silent	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr10:50819812C>G	ENST00000374115.3	+	1	1466	c.1026C>G	c.(1024-1026)gtC>gtG	p.V342V	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	342					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.V342V(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGCTGGGCGTCTACCTCACCG	0.672																																						uc001jhw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1024-1026)GTC>GTG		vesicular acetylcholine transporter							68.0	67.0	68.0					10																	50819812		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819812C>G	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1026C>G	10.37:g.50819812C>G						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.V342V	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1466	+			342			Helical; (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.1026C>G	CCDS7231.1																																																																																				PASS	0.672	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		16	30	16	30	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106983002	106983002	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr10:106983002A>G	ENST00000369701.3	+	20	3090	c.2863A>G	c.(2863-2865)Aca>Gca	p.T955A	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	955					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.T955A(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)		CGGCAATAGCACAAAGGTTTG	0.453																																					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.(2863-2865)ACA>GCA		VPS10 domain receptor protein SORCS 3 precursor							194.0	188.0	190.0					10																	106983002		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106983002A>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.2863A>G	10.37:g.106983002A>G	ENSP00000358715:p.Thr955Ala					SORCS3_uc010qqz.1_RNA	p.T955A	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)	20	3090	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	955			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2863A>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801418	0.70567	.	.	ENSG00000156395	ENST00000369701	T	0.46063	0.88	5.06	5.06	0.68205	PKD domain (1);	0.317729	0.34725	N	0.003726	T	0.61961	0.2389	M	0.77616	2.38	0.58432	D	0.999996	D	0.61080	0.989	P	0.60949	0.881	T	0.65463	-0.6162	9	.	.	.	.	15.0972	0.72244	1.0:0.0:0.0:0.0	.	955	Q9UPU3	SORC3_HUMAN	A	955	ENSP00000358715:T955A	.	T	+	1	0	SORCS3	106972992	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.440000	0.59975	2.035000	0.60131	0.460000	0.39030	ACA		PASS	0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		41	77	41	77	---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118451864	118451864	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr10:118451864G>T	ENST00000369209.3	-	6	765	c.661C>A	c.(661-663)Cag>Aag	p.Q221K		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	221						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.Q842K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACCCTCACCTGGTAGGCAGCT	0.597																																						uc001lct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)CAG>AAG		heat shock 70kDa protein 12A							97.0	106.0	103.0					10																	118451864		2195	4298	6493	SO:0001583	missense	259217						ATP binding	g.chr10:118451864G>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.661C>A	10.37:g.118451864G>T	ENSP00000358211:p.Gln221Lys					HSPA12A_uc001lcu.2_Missense_Mutation_p.Q138K	p.Q221K	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	6	766	-			221						Missense_Mutation	SNP	ENST00000369209.3	37	c.661C>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834296	0.32421	.	.	ENSG00000165868	ENST00000369209	T	0.03772	3.81	5.8	4.87	0.63330	.	0.095989	0.64402	D	0.000001	T	0.01835	0.0058	N	0.01482	-0.84	0.33909	D	0.639508	B	0.02656	0.0	B	0.04013	0.001	T	0.24941	-1.0146	10	0.02654	T	1	.	13.7026	0.62618	0.0:0.0:0.6707:0.3293	.	221	O43301	HS12A_HUMAN	K	221	ENSP00000358211:Q221K	ENSP00000358211:Q221K	Q	-	1	0	HSPA12A	118441854	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.416000	0.59815	2.755000	0.94549	0.655000	0.94253	CAG		PASS	0.597	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		5	122	5	122	---	---	---	---
PRLHR	2834	broad.mit.edu	37	10	120354611	120354611	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr10:120354611G>T	ENST00000369169.1	-	1	145	c.146C>A	c.(145-147)cCc>cAc	p.P49H	PRLHR_ENST00000239032.2_Missense_Mutation_p.P49H			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	49					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)	p.P49H(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCTCTGGAAGGGCGTGACGGC	0.697																																						uc001ldp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)CCC>CAC		G protein-coupled receptor 10							37.0	42.0	41.0					10																	120354611		2203	4299	6502	SO:0001583	missense	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120354611G>T	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.146C>A	10.37:g.120354611G>T	ENSP00000358167:p.Pro49His						p.P49H	NM_004248	NP_004239	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	285	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	49			Extracellular (Potential).		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.146C>A	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711331	0.30322	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.63255	-0.03;-0.03	4.08	3.18	0.36537	.	0.318216	0.29152	N	0.012986	T	0.34250	0.0891	N	0.08118	0	0.25101	N	0.990781	P	0.37864	0.61	B	0.37833	0.259	T	0.13124	-1.0521	10	0.15952	T	0.53	.	4.9801	0.14160	0.1062:0.0:0.6849:0.2089	.	49	P49683	PRLHR_HUMAN	H	49	ENSP00000239032:P49H;ENSP00000358167:P49H	ENSP00000239032:P49H	P	-	2	0	PRLHR	120344601	1.000000	0.71417	0.942000	0.38095	0.709000	0.40893	3.705000	0.54823	1.317000	0.45149	0.650000	0.86243	CCC		PASS	0.697	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		4	15	4	15	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128153547	128153547	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr10:128153547T>C	ENST00000284694.7	-	4	1372	c.1252A>G	c.(1252-1254)Aaa>Gaa	p.K418E	C10orf90_ENST00000544758.1_Missense_Mutation_p.K515E|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000480379.1_5'Flank|C10orf90_ENST00000356858.3_Missense_Mutation_p.K371E	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	418					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K418E(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GAAAATACTTTTGTGTGTACT	0.423																																						uc001ljq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1252-1254)AAA>GAA		hypothetical protein LOC118611							76.0	76.0	76.0					10																	128153547		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128153547T>C	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1252A>G	10.37:g.128153547T>C	ENSP00000284694:p.Lys418Glu					C10orf90_uc001ljp.2_Intron|C10orf90_uc010qum.1_Missense_Mutation_p.K515E|C10orf90_uc009yao.2_3'UTR|C10orf90_uc001ljo.2_5'Flank	p.K418E	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	4	1373	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	418					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1252A>G	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741366	0.30865	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000544758;ENST00000432642	T;T;T	0.23950	1.88;1.91;1.88	4.44	3.28	0.37604	.	0.410909	0.20773	N	0.085930	T	0.27454	0.0674	L	0.58101	1.795	0.80722	D	1	P;P	0.40180	0.705;0.705	B;B	0.41510	0.359;0.359	T	0.03651	-1.1016	10	0.72032	D	0.01	-1.0543	8.6956	0.34293	0.0:0.0:0.3796:0.6204	.	515;418	F5GZL2;Q96M02	.;CJ090_HUMAN	E	371;418;515;418	ENSP00000284694:K418E;ENSP00000444369:K515E;ENSP00000405995:K418E	ENSP00000284694:K418E	K	-	1	0	C10orf90	128143537	1.000000	0.71417	0.999000	0.59377	0.604000	0.37047	0.985000	0.29578	0.727000	0.32360	-0.338000	0.08134	AAA		PASS	0.423	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		15	21	15	21	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1093094	1093094	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:1093094T>G	ENST00000441003.2	+	30	4940	c.4913T>G	c.(4912-4914)gTg>gGg	p.V1638G	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.V1605G|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.V1605G(1)|p.V1638G(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accactacggtgaccccaacc	0.627																																						uc001lsx.1																			2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(11998-12000)GTG>GGG		mucin 2 precursor	Pranlukast(DB01411)						70.0	127.0	107.0					11																	1093094		1817	3454	5271	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093094T>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4913T>G	11.37:g.1093094T>G	ENSP00000415183:p.Val1638Gly						p.V4000G	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	12026	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4000					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.11999T>G		.	.	.	.	.	.	.	.	.	.	T	2.324	-0.355023	0.05138	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.14022	2.54;3.16	1.66	-3.31	0.04988	.	0.262594	0.13470	U	0.385509	T	0.06462	0.0166	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29822	-0.9999	9	0.41790	T	0.15	.	0.1958	0.00139	0.2143:0.1839:0.2436:0.3582	.	1638	E7EUV1	.	G	1638;1605	ENSP00000415183:V1638G;ENSP00000351956:V1605G	ENSP00000351956:V1605G	V	+	2	0	MUC2	1083094	0.003000	0.15002	0.000000	0.03702	0.171000	0.22731	1.577000	0.36515	-1.792000	0.01259	0.102000	0.15555	GTG		PASS	0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	8	3	8	---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142713	5142713	+	RNA	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:5142713C>T	ENST00000498233.1	-	0	685							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G32G(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAATGGAATCCCAATCCAGC	0.423																																						uc001lzz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(94-96)GGG>GGA		olfactory receptor, family 52, subfamily A,							126.0	126.0	126.0					11																	5142713		2201	4298	6499			390053							g.chr11:5142713C>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142713C>T						OR52A4_uc001maa.2_RNA	p.G32G	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	96	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Silent	SNP	ENST00000498233.1	37	c.96G>A																																																																																					PASS	0.423	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		6	145	6	145	---	---	---	---
ZNF214	7761	broad.mit.edu	37	11	7021527	7021527	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:7021527C>A	ENST00000278314.4	-	3	1702	c.1387G>T	c.(1387-1389)Gtc>Ttc	p.V463F	ZNF214_ENST00000536068.1_Missense_Mutation_p.V463F|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V463F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CCTGTATGGACTCTCTGATGA	0.423																																					Ovarian(22;251 657 736 21522 46864)	uc001mfa.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1387-1389)GTC>TTC		zinc finger protein 214							110.0	115.0	113.0					11																	7021527		2201	4295	6496	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021527C>A	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1387G>T	11.37:g.7021527C>A	ENSP00000278314:p.Val463Phe					ZNF214_uc010ray.1_Missense_Mutation_p.V463F|ZNF214_uc009yfh.1_Missense_Mutation_p.V463F	p.V463F	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1690	-			463			C2H2-type 7.		B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1387G>T	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502417	0.26949	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.00768	5.72;5.72	3.83	3.83	0.44106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.196102	0.25258	N	0.031978	T	0.02304	0.0071	M	0.69823	2.125	0.09310	N	1	P	0.46457	0.878	P	0.54965	0.765	T	0.23084	-1.0198	10	0.87932	D	0	.	7.4863	0.27435	0.0:0.8847:0.0:0.1152	.	463	Q9UL59	ZN214_HUMAN	F	463	ENSP00000278314:V463F;ENSP00000445373:V463F	ENSP00000278314:V463F	V	-	1	0	ZNF214	6978103	0.000000	0.05858	0.995000	0.50966	0.876000	0.50452	-0.061000	0.11693	2.418000	0.82041	0.561000	0.74099	GTC		PASS	0.423	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			12	43	12	43	---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8132433	8132433	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:8132433G>A	ENST00000309737.6	-	6	921	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	RIC3_ENST00000425599.2_Missense_Mutation_p.H227Y|RIC3_ENST00000335425.7_Missense_Mutation_p.H126Y|RIC3_ENST00000343202.4_Missense_Mutation_p.H307Y|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.H259Y|RIC3_ENST00000396677.2_Missense_Mutation_p.H146Y			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	308					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.H307Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TCGTCTTCATGAAAACAGCAG	0.493																																						uc001mgd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(922-924)CAT>TAT		resistance to inhibitors of cholinesterase 3							136.0	129.0	131.0					11																	8132433		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8132433G>A		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.922C>T	11.37:g.8132433G>A	ENSP00000308820:p.His308Tyr					RIC3_uc001mgb.2_Missense_Mutation_p.H146Y|RIC3_uc001mgc.2_Missense_Mutation_p.H307Y|RIC3_uc001mge.2_Missense_Mutation_p.H126Y|RIC3_uc010rbl.1_Missense_Mutation_p.H258Y|RIC3_uc010rbm.1_Missense_Mutation_p.H336Y|RIC3_uc009yfm.2_Missense_Mutation_p.H227Y|RIC3_uc009yfn.2_Missense_Mutation_p.H111Y	p.H308Y	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	6	976	-			308			Cytoplasmic (Potential).		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.922C>T	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	G	5.835	0.338226	0.11069	.	.	ENSG00000166405	ENST00000396677;ENST00000335425;ENST00000343202;ENST00000309737;ENST00000539720;ENST00000425599	T;T;T;T	0.31769	1.5;1.5;1.5;1.48	5.96	5.05	0.67936	.	0.838172	0.10754	N	0.637985	T	0.16896	0.0406	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.22146	0.006;0.065;0.001;0.001;0.006	B;B;B;B;B	0.16289	0.005;0.015;0.0;0.0;0.003	T	0.33929	-0.9849	10	0.02654	T	1	.	7.1299	0.25496	0.1522:0.1512:0.6965:0.0	.	227;126;308;307;146	B0B1U0;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;.;RIC3_HUMAN;.;.	Y	146;126;307;308;259;227	ENSP00000344904:H307Y;ENSP00000308820:H308Y;ENSP00000443871:H259Y;ENSP00000395320:H227Y	ENSP00000308820:H308Y	H	-	1	0	RIC3	8089009	0.968000	0.33430	0.407000	0.26434	0.996000	0.88848	1.963000	0.40452	1.527000	0.49086	0.650000	0.86243	CAT		PASS	0.493	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		5	68	5	68	---	---	---	---
INSC	387755	broad.mit.edu	37	11	15243165	15243165	+	Missense_Mutation	SNP	G	G	A	rs369928674		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:15243165G>A	ENST00000379554.3	+	8	1149	c.1103G>A	c.(1102-1104)aGc>aAc	p.S368N	INSC_ENST00000424273.1_Missense_Mutation_p.S279N|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.S279N|INSC_ENST00000528567.1_Missense_Mutation_p.S321N|INSC_ENST00000530161.1_Missense_Mutation_p.S321N|INSC_ENST00000379556.3_Missense_Mutation_p.S321N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	368					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.S368N(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						TTCCTGGAGAGCATGGAGGAG	0.632																																						uc001mly.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(1102-1104)AGC>AAC		inscuteable isoform a							38.0	42.0	41.0					11																	15243165		2085	4208	6293	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15243165G>A	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.1103G>A	11.37:g.15243165G>A	ENSP00000368872:p.Ser368Asn					INSC_uc001mlz.2_Missense_Mutation_p.S321N|INSC_uc001mma.2_Missense_Mutation_p.S321N|INSC_uc010rcs.1_Missense_Mutation_p.S356N|INSC_uc001mmb.2_Missense_Mutation_p.S321N|INSC_uc001mmc.2_Missense_Mutation_p.S279N	p.S368N	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			8	1149	+			368					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1103G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330405	0.10956	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.46	2.52	0.30459	Armadillo-like helical (1);Armadillo-type fold (1);	0.132116	0.64402	N	0.000001	T	0.14227	0.0344	N	0.01277	-0.915	0.37699	D	0.924138	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.003;0.001;0.001	T	0.14254	-1.0479	10	0.07482	T	0.82	-15.7356	5.8446	0.18659	0.4703:0.0:0.5297:0.0	.	356;279;321;368	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	N	368;321;279;321;321;279	ENSP00000368872:S368N;ENSP00000368874:S321N;ENSP00000389161:S279N;ENSP00000435022:S321N;ENSP00000436194:S321N;ENSP00000436113:S279N	ENSP00000368872:S368N	S	+	2	0	INSC	15199741	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.185000	0.50934	1.265000	0.44215	0.655000	0.94253	AGC		PASS	0.632	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		6	21	6	21	---	---	---	---
OR4X2	119764	broad.mit.edu	37	11	48266676	48266676	+	Silent	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:48266676G>T	ENST00000302329.3	+	1	69	c.21G>T	c.(19-21)ctG>ctT	p.L7L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L7L(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCATTTTTCTGGTACTTTCTC	0.418																																						uc001ngs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(19-21)CTG>CTT		olfactory receptor, family 4, subfamily X,							166.0	139.0	148.0					11																	48266676		2201	4298	6499	SO:0001819	synonymous_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266676G>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.21G>T	11.37:g.48266676G>T							p.L7L	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	21	+			7			Extracellular (Potential).		B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	c.21G>T	CCDS31486.1																																																																																				PASS	0.418	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		5	68	5	68	---	---	---	---
APLNR	187	broad.mit.edu	37	11	57004291	57004291	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:57004291G>A	ENST00000606794.1	-	1	384	c.188C>T	c.(187-189)tCa>tTa	p.S63L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	63					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.S63L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GATATCAGCTGAGCGCCTCTT	0.612																																						uc001njo.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(187-189)TCA>TTA		apelin receptor							74.0	67.0	70.0					11																	57004291		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57004291G>A	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.188C>T	11.37:g.57004291G>A	ENSP00000475344:p.Ser63Leu					APLNR_uc001njn.3_RNA	p.S63L	NM_005161	NP_005152	P35414	APJ_HUMAN			1	637	-			63			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000606794.1	37	c.188C>T	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930641	0.52866	.	.	ENSG00000134817	ENST00000257254;ENST00000444275	T	0.38240	1.15	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.156736	0.43579	D	0.000560	T	0.28400	0.0702	N	0.20766	0.605	0.46096	D	0.998866	P	0.35944	0.529	B	0.35039	0.194	T	0.09796	-1.0658	10	0.51188	T	0.08	-4.6555	18.5832	0.91180	0.0:0.0:1.0:0.0	.	63	P35414	APJ_HUMAN	L	63;28	ENSP00000257254:S63L	ENSP00000257254:S63L	S	-	2	0	APLNR	56760867	1.000000	0.71417	0.802000	0.32245	0.769000	0.43574	5.678000	0.68153	2.486000	0.83907	0.561000	0.74099	TCA		PASS	0.612	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		10	38	10	38	---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60609992	60609992	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:60609992G>A	ENST00000227520.5	+	1	449	c.395G>A	c.(394-396)gGa>gAa	p.G132E	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	132	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G132E(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CAGGACCAGGGAGTACTGGCC	0.617																																						uc001nqa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GGA>GAA		coiled-coil domain containing 86							58.0	58.0	58.0					11																	60609992		2203	4299	6502	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60609992G>A	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.395G>A	11.37:g.60609992G>A	ENSP00000227520:p.Gly132Glu					CCDC86_uc001nqb.2_Intron	p.G132E	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN			1	564	+			132			Pro-rich.		B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.395G>A	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	G	8.430	0.848393	0.17034	.	.	ENSG00000110104	ENST00000227520	T	0.39406	1.08	3.51	-1.41	0.08941	.	1.577690	0.03429	N	0.207426	T	0.20780	0.0500	N	0.10874	0.06	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.24764	-1.0151	10	0.02654	T	1	0.0057	8.133	0.31037	0.435:0.0:0.565:0.0	.	132	Q9H6F5	CCD86_HUMAN	E	132	ENSP00000227520:G132E	ENSP00000227520:G132E	G	+	2	0	CCDC86	60366568	0.007000	0.16637	0.000000	0.03702	0.104000	0.19210	0.510000	0.22723	-0.135000	0.11495	0.561000	0.74099	GGA		PASS	0.617	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		13	58	13	58	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61070589	61070589	+	Silent	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:61070589C>A	ENST00000301764.7	-	23	3268	c.2871G>T	c.(2869-2871)gtG>gtT	p.V957V	DDB1_ENST00000538470.1_Silent_p.V4V|DDB1_ENST00000451943.2_5'Flank|DDB1_ENST00000450997.2_Silent_p.V268V	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	957	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.V957V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAAGATTTCCACAGCACTCA	0.438								Nucleotide excision repair (NER)																														uc001nrc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2869-2871)GTG>GTT	NER	damage-specific DNA binding protein 1							154.0	142.0	146.0					11																	61070589		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61070589C>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2871G>T	11.37:g.61070589C>A						DDB1_uc010rle.1_Silent_p.V268V|DDB1_uc010rlf.1_Silent_p.V957V	p.V957V	NM_001923	NP_001914	Q16531	DDB1_HUMAN			23	3097	-			957			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.2871G>T	CCDS31576.1																																																																																				PASS	0.438	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		6	106	6	106	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68191058	68191058	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:68191058G>A	ENST00000294304.7	+	14	3235	c.3129G>A	c.(3127-3129)gaG>gaA	p.E1043E		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1043	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.E1043E(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACGTGCGAGGCCACCAATA	0.622																																						uc001ont.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(3127-3129)GAG>GAA		low density lipoprotein receptor-related protein							113.0	102.0	106.0					11																	68191058		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68191058G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3129G>A	11.37:g.68191058G>A						LRP5_uc009ysg.2_Silent_p.E453E	p.E1043E	NM_002335	NP_002326	O75197	LRP5_HUMAN			14	3204	+			1043			LDL-receptor class B 17.|Beta-propeller 4.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.3129G>A	CCDS8181.1																																																																																				PASS	0.622	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		9	37	9	37	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71740319	71740319	+	Silent	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:71740319C>A	ENST00000393695.3	-	4	391	c.60G>T	c.(58-60)gtG>gtT	p.V20V	NUMA1_ENST00000358965.6_Silent_p.V20V|NUMA1_ENST00000351960.6_Silent_p.V20V	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.V20V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CAGGGTCAGCCACGTGTAGAC	0.498			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(58-60)GTG>GTT		nuclear mitotic apparatus protein 1							66.0	56.0	60.0					11																	71740319		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71740319C>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.60G>T	11.37:g.71740319C>A						NUMA1_uc001ork.1_Silent_p.V20V|NUMA1_uc001orm.1_Silent_p.V20V|NUMA1_uc009ysx.1_Silent_p.V20V|NUMA1_uc001oro.1_Silent_p.V20V|NUMA1_uc009ysy.1_Silent_p.V20V|NUMA1_uc001orp.2_Silent_p.V20V|NUMA1_uc001orq.2_Silent_p.V20V	p.V20V	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			4	232	-			20						Silent	SNP	ENST00000393695.3	37	c.60G>T	CCDS31633.1																																																																																				PASS	0.498	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			3	14	3	14	---	---	---	---
ELMOD1	55531	broad.mit.edu	37	11	107524922	107524922	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:107524922G>T	ENST00000265840.7	+	10	937	c.672G>T	c.(670-672)gaG>gaT	p.E224D	ELMOD1_ENST00000531234.1_Missense_Mutation_p.E218D|ELMOD1_ENST00000443271.2_Missense_Mutation_p.E216D	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	224	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)	p.E224D(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CAGAATGGGAGAAGAAAAGGA	0.373																																						uc010rvs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)GAG>GAT		ELMO/CED-12 domain containing 1 isoform 1							101.0	91.0	94.0					11																	107524922		1880	4103	5983	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107524922G>T	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.672G>T	11.37:g.107524922G>T	ENSP00000265840:p.Glu224Asp					ELMOD1_uc001pjm.2_Missense_Mutation_p.E216D|ELMOD1_uc010rvt.1_Missense_Mutation_p.E218D	p.E224D	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	10	1076	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	224			ELMO.		B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.672G>T	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067129	0.55539	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.35	-2.17	0.07059	Engulfment/cell motility, ELMO (2);	0.179711	0.42053	D	0.000762	T	0.54127	0.1839	M	0.69823	2.125	0.43559	D	0.995877	P;P	0.46706	0.883;0.701	P;B	0.45753	0.492;0.275	T	0.56727	-0.7931	9	0.22109	T	0.4	.	11.6423	0.51240	0.4917:0.0:0.5083:0.0	.	224;216	Q8N336;G5E9S5	ELMD1_HUMAN;.	D	218;224;216	.	ENSP00000265840:E224D	E	+	3	2	ELMOD1	107030132	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	0.688000	0.25422	-0.214000	0.10078	-0.345000	0.07892	GAG		PASS	0.373	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		4	23	4	23	---	---	---	---
NXPE1	120400	broad.mit.edu	37	11	114393009	114393009	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:114393009A>C	ENST00000424269.1	-	5	1324	c.1325T>G	c.(1324-1326)tTt>tGt	p.F442C	NXPE1_ENST00000536271.1_Missense_Mutation_p.F158C|NXPE1_ENST00000251921.2_Missense_Mutation_p.F300C			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	442						extracellular region (GO:0005576)		p.F300C(1)									AAATGGTCTAAAGTGCTGGCC	0.438																																						uc001ppa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(898-900)TTT>TGT		hypothetical protein LOC120400							138.0	126.0	130.0					11																	114393009		2201	4296	6497	SO:0001583	missense	120400					extracellular region		g.chr11:114393009A>C	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1325T>G	11.37:g.114393009A>C	ENSP00000411690:p.Phe442Cys					FAM55A_uc010rxd.1_Missense_Mutation_p.F149C	p.F300C	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	6	1316	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	442					B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.899T>G		.	.	.	.	.	.	.	.	.	.	A	19.79	3.893180	0.72524	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.27104	1.69;1.69;1.69	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000001	T	0.60157	0.2247	M	0.93328	3.405	0.40645	D	0.981982	D	0.89917	1.0	D	0.91635	0.999	T	0.72737	-0.4203	10	0.87932	D	0	.	13.2248	0.59909	1.0:0.0:0.0:0.0	.	442	Q8N323	FA55A_HUMAN	C	158;300;442	ENSP00000445200:F158C;ENSP00000251921:F300C;ENSP00000411690:F442C	ENSP00000251921:F300C	F	-	2	0	FAM55A	113898219	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.009000	0.49552	1.947000	0.56498	0.528000	0.53228	TTT		PASS	0.438	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		13	44	13	44	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121028813	121028813	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:121028813C>T	ENST00000392793.1	+	14	4840	c.4569C>T	c.(4567-4569)atC>atT	p.I1523I	TECTA_ENST00000264037.2_Silent_p.I1523I			O75443	TECTA_HUMAN	tectorin alpha	1523	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.I1523I(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCCCGACATCTCCTTCCAGC	0.577																																						uc010rzo.1																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(4567-4569)ATC>ATT		tectorin alpha precursor							96.0	76.0	83.0					11																	121028813		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028813C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4569C>T	11.37:g.121028813C>T							p.I1523I	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4569	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1523			VWFD 4.			Silent	SNP	ENST00000392793.1	37	c.4569C>T	CCDS8434.1																																																																																				PASS	0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		12	38	12	38	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440189	124440189	+	Silent	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:124440189C>G	ENST00000284287.3	+	1	297	c.225C>G	c.(223-225)ccC>ccG	p.P75P		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	75					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P75P(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGCACACCCCCATGTACTACT	0.488																																						uc010san.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(223-225)CCC>CCG		olfactory receptor, family 8, subfamily A,							169.0	153.0	158.0					11																	124440189		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440189C>G	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.225C>G	11.37:g.124440189C>G							p.P75P	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	225	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	75			Cytoplasmic (Potential).		Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.225C>G	CCDS31712.1																																																																																				PASS	0.488	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		9	68	9	68	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4736450	4736451	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:4736450_4736451CC>AA	ENST00000545990.2	-	5	2141_2142	c.1617_1618GG>TT	c.(1615-1620)ctGGcc>ctTTcc	p.A540S	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.A540S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	540					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.A540S(4)|p.L539L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CCTCCCTGGGCCAGGTGATATT	0.52																																						uc001qnb.3																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(1618-1620)GCC>TCC|c.(1615-1617)CTG>CTT		A-kinase anchor protein 3																																				SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736450C>A|g.chr12:4736451C>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1617_1618delinsAA	12.37:g.4736450_4736451delinsAA	ENSP00000440994:p.Ala540Ser						p.A540S|p.L539L	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	1847|1846	-			540|539					O75945|Q86X01|Q9UM61	Missense_Mutation|Silent	SNP	ENST00000545990.2	37	c.1618G>T|c.1617G>T	CCDS8531.1																																																																																				PASS	0.520	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		6	26	6	26	---	---	---	---
GNB3	2784	broad.mit.edu	37	12	6952169	6952169	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:6952169G>A	ENST00000229264.3	+	5	537	c.132G>A	c.(130-132)caG>caA	p.Q44Q	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Silent_p.Q44Q	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	44					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.Q44Q(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GACGAGTCCAGATGCGGACGC	0.597																																						uc001qrd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(130-132)CAG>CAA		guanine nucleotide-binding protein, beta-3							101.0	82.0	88.0					12																	6952169		2203	4300	6503	SO:0001819	synonymous_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952169G>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.132G>A	12.37:g.6952169G>A						GNB3_uc001qrc.2_5'UTR|GNB3_uc009zfe.2_Silent_p.Q44Q	p.Q44Q	NM_002075	NP_002066	P16520	GBB3_HUMAN			5	537	+			44					Q96B71|Q9BQC0	Silent	SNP	ENST00000229264.3	37	c.132G>A	CCDS8564.1																																																																																				PASS	0.597	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		7	24	7	24	---	---	---	---
C1R	715	broad.mit.edu	37	12	7187907	7187907	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:7187907C>A	ENST00000542285.1	-	11	2040	c.1891G>T	c.(1891-1893)Ggc>Tgc	p.G631C				P00736	C1R_HUMAN	complement component 1, r subcomponent	683	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G646C(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAGCCATAGCCCCTGCTGCAC	0.572																																						uc010sfy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2047-2049)GGC>TGC		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						67.0	73.0	71.0					12																	7187907		2130	4269	6399	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7187907C>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1891G>T	12.37:g.7187907C>A	ENSP00000438615:p.Gly631Cys						p.G683C	NM_001733	NP_001724	P00736	C1R_HUMAN			10	2106	-			683			Peptidase S1.		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.2047G>T		.	.	.	.	.	.	.	.	.	.	C	17.14	3.313059	0.60414	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.89746	-2.56	5.65	5.65	0.86999	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.94660	0.8278	.	.	.	0.19300	N	0.999978	D	0.89917	1.0	D	0.77557	0.99	D	0.88967	0.3398	9	0.62326	D	0.03	.	19.8088	0.96539	0.0:1.0:0.0:0.0	.	683	P00736	C1R_HUMAN	C	646;631	ENSP00000438615:G631C	ENSP00000290575:G646C	G	-	1	0	C1R	7058162	0.018000	0.18449	0.452000	0.26994	0.977000	0.68977	1.400000	0.34577	2.672000	0.90937	0.644000	0.83932	GGC		PASS	0.572	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		6	41	6	41	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7528090	7528090	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:7528090C>A	ENST00000313599.3	-	11	2845	c.2788G>T	c.(2788-2790)Gac>Tac	p.D930Y	CD163L1_ENST00000416109.2_Missense_Mutation_p.D940Y|CD163L1_ENST00000396630.1_Missense_Mutation_p.D930Y|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	930	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D930Y(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCTTCTGGGTCCCAGTGGGTG	0.512																																						uc001qsy.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2788-2790)GAC>TAC		scavenger receptor cysteine-rich type 1							72.0	64.0	66.0					12																	7528090		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7528090C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2788G>T	12.37:g.7528090C>A	ENSP00000315945:p.Asp930Tyr					CD163L1_uc010sge.1_Missense_Mutation_p.D940Y	p.D930Y	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			11	2814	-			930			SRCR 9.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2788G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	4.989	0.183766	0.09495	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35421	1.31;1.31;1.31	2.44	-0.554	0.11811	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.239092	0.26646	N	0.023223	T	0.39200	0.1069	M	0.89414	3.03	0.21064	N	0.999794	B;B	0.14805	0.011;0.003	B;B	0.20384	0.029;0.029	T	0.42565	-0.9444	10	0.62326	D	0.03	.	5.5253	0.16955	0.1617:0.6138:0.0:0.2245	.	940;930	E7EVK4;Q9NR16	.;C163B_HUMAN	Y	930;940;930	ENSP00000315945:D930Y;ENSP00000393474:D940Y;ENSP00000379871:D930Y	ENSP00000315945:D930Y	D	-	1	0	CD163L1	7419357	0.271000	0.24162	0.014000	0.15608	0.083000	0.17756	-0.071000	0.11505	-0.483000	0.06772	-2.157000	0.00329	GAC		PASS	0.512	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		6	24	6	24	---	---	---	---
A2M	2	broad.mit.edu	37	12	9243921	9243921	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:9243921G>C	ENST00000318602.7	-	19	2652	c.2345C>G	c.(2344-2346)tCc>tGc	p.S782C		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	782					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.S782C(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGAGGCAGTGGAAGAGATACC	0.562																																						uc001qvk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(2344-2346)TCC>TGC		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						112.0	121.0	118.0					12																	9243921		2203	4300	6503	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9243921G>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2345C>G	12.37:g.9243921G>C	ENSP00000323929:p.Ser782Cys					A2M_uc009zgk.1_Missense_Mutation_p.S632C	p.S782C	NM_000014	NP_000005	P01023	A2MG_HUMAN			19	2458	-			782					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2345C>G	CCDS44827.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.013971|3.013971	0.54468|0.54468	.|.	.|.	ENSG00000175899|ENSG00000175899	ENST00000543436|ENST00000318602;ENST00000540099	.|T	.|0.26957	.|1.7	5.28|5.28	1.14|1.14	0.20703|0.20703	.|Alpha-2-macroglobulin (1);	.|0.658038	.|0.15331	.|N	.|0.267986	T|T	0.41305|0.41305	0.1153|0.1153	M|M	0.72118|0.72118	2.19|2.19	0.09310|0.09310	N|N	1|1	.|D	.|0.59767	.|0.986	.|P	.|0.58391	.|0.838	T|T	0.24584|0.24584	-1.0156|-1.0156	5|10	.|0.87932	.|D	.|0	.|.	9.4195|9.4195	0.38541|0.38541	0.4579:0.0:0.5421:0.0|0.4579:0.0:0.5421:0.0	.|.	.|782	.|P01023	.|A2MG_HUMAN	A|C	30|782;797	.|ENSP00000323929:S782C	.|ENSP00000323929:S782C	P|S	-|-	1|2	0|0	A2M|A2M	9135188|9135188	0.999000|0.999000	0.42202|0.42202	0.041000|0.041000	0.18516|0.18516	0.817000|0.817000	0.46193|0.46193	2.854000|2.854000	0.48325|0.48325	-0.068000|-0.068000	0.12953|0.12953	0.557000|0.557000	0.71058|0.71058	CCA|TCC		PASS	0.562	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		21	99	21	99	---	---	---	---
RAPGEF3	10411	broad.mit.edu	37	12	48142237	48142237	+	Splice_Site	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:48142237C>A	ENST00000449771.2	-	12	1331	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*	RAPGEF3_ENST00000405493.2_Splice_Site_p.E373*|RAPGEF3_ENST00000395358.3_Splice_Site_p.E415*|RAPGEF3_ENST00000171000.4_Splice_Site_p.E373*|RAPGEF3_ENST00000389212.3_Splice_Site_p.E415*|RAPGEF3_ENST00000548919.1_Splice_Site_p.E373*|RAPGEF3_ENST00000549151.1_Splice_Site_p.E373*			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	415	Interaction with PDE3B.|N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.E373*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TTGCCCTTACCTGTTGGGTCA	0.547																																						uc009zkp.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(1)|pancreas(1)	4						c.(1117-1119)GAG>TAG		Rap guanine nucleotide exchange factor 3 isoform							120.0	100.0	107.0					12																	48142237		2203	4300	6503	SO:0001630	splice_region_variant	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48142237C>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1243+1G>T	12.37:g.48142237C>A						RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Nonsense_Mutation_p.E373*|RAPGEF3_uc001rpz.3_Nonsense_Mutation_p.E415*|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Nonsense_Mutation_p.E427*	p.E373*	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	11	1557	-	Lung SC(27;0.192)		373					A8K2G5|E7EQC8|O95634|Q8WVN0	Nonsense_Mutation	SNP	ENST00000449771.2	37	c.1117G>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	40	8.068907	0.98638	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	.	.	.	3.94	3.94	0.45596	.	0.648009	0.15201	N	0.275040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7813	0.52016	0.0:1.0:0.0:0.0	.	.	.	.	X	373;415;62;373;373;373;415;427;373;415	.	.	E	-	1	0	RAPGEF3	46428504	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.059000	0.64306	2.510000	0.84645	0.650000	0.86243	GAG		PASS	0.547	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105	Nonsense_Mutation	4	31	4	31	---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53038841	53038841	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:53038841C>G	ENST00000309680.3	-	9	1903	c.1882G>C	c.(1882-1884)Gaa>Caa	p.E628Q		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	628	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.E628Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCAAAAGCTTCACCTGAGCTA	0.537																																						uc001sat.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1882-1884)GAA>CAA		keratin 2							70.0	74.0	73.0					12																	53038841		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53038841C>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1882G>C	12.37:g.53038841C>G	ENSP00000310861:p.Glu628Gln						p.E628Q	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	9	1915	-			628			Tail.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1882G>C	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	1.601	-0.526567	0.04141	.	.	ENSG00000172867	ENST00000309680	D	0.81739	-1.53	4.67	1.75	0.24633	.	.	.	.	.	T	0.60728	0.2291	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.52396	-0.8581	9	0.87932	D	0	.	5.6364	0.17538	0.0:0.6567:0.1612:0.1821	.	628	P35908	K22E_HUMAN	Q	628	ENSP00000310861:E628Q	ENSP00000310861:E628Q	E	-	1	0	KRT2	51325108	0.045000	0.20229	0.276000	0.24689	0.096000	0.18686	1.273000	0.33121	0.141000	0.18875	0.561000	0.74099	GAA		PASS	0.537	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		6	88	6	88	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57594585	57594585	+	Silent	SNP	C	C	T	rs201671276		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:57594585C>T	ENST00000243077.3	+	64	10678	c.10212C>T	c.(10210-10212)gaC>gaT	p.D3404D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3404	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D3404D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACAACAGTGACGAGGCCAACT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		11785	0.001		0.0	False		,,,				2504	0.0					uc001snd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(10210-10212)GAC>GAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						85.0	73.0	77.0					12																	57594585		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57594585C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10212C>T	12.37:g.57594585C>T							p.D3404D	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	64	10678	+			3404			Extracellular (Potential).|LDL-receptor class A 22.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.10212C>T	CCDS8932.1																																																																																				PASS	0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		5	53	5	53	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62887715	62887715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:62887715G>T	ENST00000393632.2	+	3	587	c.196G>T	c.(196-198)Gag>Tag	p.E66*	MON2_ENST00000280379.6_Nonsense_Mutation_p.E66*|MON2_ENST00000393630.3_Nonsense_Mutation_p.E66*|MON2_ENST00000546600.1_Nonsense_Mutation_p.E66*|MON2_ENST00000549378.1_Intron|MON2_ENST00000552115.1_Nonsense_Mutation_p.E66*|MON2_ENST00000552738.1_Nonsense_Mutation_p.E66*|MON2_ENST00000393629.2_Nonsense_Mutation_p.E66*	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	66					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E66*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GAACAGCTCAGAGGTTGTACA	0.338																																						uc001sre.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(196-198)GAG>TAG		MON2 homolog							85.0	73.0	77.0					12																	62887715		2202	4300	6502	SO:0001587	stop_gained	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62887715G>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.196G>T	12.37:g.62887715G>T	ENSP00000377252:p.Glu66*					MON2_uc009zqj.2_Nonsense_Mutation_p.E66*|MON2_uc010ssl.1_5'UTR|MON2_uc010ssm.1_Nonsense_Mutation_p.E66*|MON2_uc010ssn.1_Nonsense_Mutation_p.E66*|MON2_uc001srd.1_Intron	p.E66*	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	3	587	+			66					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Nonsense_Mutation	SNP	ENST00000393632.2	37	c.196G>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	37	6.270129	0.97431	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.2681	19.7449	0.96248	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	.	E	+	1	0	MON2	61173982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.677000	0.91161	0.591000	0.81541	GAG		PASS	0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		3	11	3	11	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101680199	101680199	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:101680199G>C	ENST00000261637.4	+	5	601	c.427G>C	c.(427-429)Gag>Cag	p.E143Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	143					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E143Q(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCAGGACACAGAGTTGTTAGA	0.433																																						uc001tia.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(427-429)GAG>CAG		down-regulated in metastasis							237.0	230.0	232.0					12																	101680199		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101680199G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.427G>C	12.37:g.101680199G>C	ENSP00000261637:p.Glu143Gln					UTP20_uc009ztz.1_Missense_Mutation_p.E143Q	p.E143Q	NM_014503	NP_055318	O75691	UTP20_HUMAN			5	583	+			143					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.427G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153986	0.94645	.	.	ENSG00000120800	ENST00000261637	T	0.50277	0.75	5.29	5.29	0.74685	Armadillo-type fold (1);	0.060399	0.64402	D	0.000004	T	0.68504	0.3008	M	0.83603	2.65	0.80722	D	1	D	0.67145	0.996	P	0.58970	0.849	T	0.70468	-0.4863	10	0.40728	T	0.16	-13.5451	18.9401	0.92601	0.0:0.0:1.0:0.0	.	143	O75691	UTP20_HUMAN	Q	143	ENSP00000261637:E143Q	ENSP00000261637:E143Q	E	+	1	0	UTP20	100204330	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.822000	0.86651	2.469000	0.83416	0.557000	0.71058	GAG		PASS	0.433	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		6	113	6	113	---	---	---	---
IGF1	3479	broad.mit.edu	37	12	102811758	102811758	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:102811758C>G	ENST00000307046.8	-	4	607	c.426G>C	c.(424-426)aaG>aaC	p.K142N	IGF1_ENST00000337514.6_Intron|IGF1_ENST00000392904.1_Missense_Mutation_p.K142N|IGF1_ENST00000481539.1_5'Flank|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000456098.1_Missense_Mutation_p.K142N	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	142					blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)	p.K142N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACTTCGTGTTCTTGTTGGTAG	0.468																																						uc001tjp.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(424-426)AAG>AAC		insulin-like growth factor 1 isoform 3							188.0	170.0	175.0					12																	102811758		1568	3582	5150	SO:0001583	missense	3479				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	g.chr12:102811758C>G	X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"""Endogenous ligands"""	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.426G>C	12.37:g.102811758C>G	ENSP00000302665:p.Lys142Asn					IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Missense_Mutation_p.K142N|IGF1_uc001tjo.2_Intron	p.K142N	NM_001111285	NP_001104755	P05019	IGF1_HUMAN			4	645	-			142					B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	ENST00000307046.8	37	c.426G>C	CCDS44962.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290110	0.40494	.	.	ENSG00000017427	ENST00000456098;ENST00000392904;ENST00000392905;ENST00000307046	D;D;D;D	0.97161	-4.27;-4.27;-4.26;-3.27	5.54	5.54	0.83059	.	0.159614	0.42294	D	0.000721	D	0.96765	0.8944	L	0.29908	0.895	0.32192	N	0.578904	D;D	0.71674	0.998;0.981	D;D	0.76071	0.987;0.95	D	0.95642	0.8699	10	0.26408	T	0.33	-20.2593	15.0088	0.71533	0.0:1.0:0.0:0.0	.	142;142	P05019;E9PD02	IGF1_HUMAN;.	N	142;142;123;142	ENSP00000394999:K142N;ENSP00000376637:K142N;ENSP00000376638:K123N;ENSP00000302665:K142N	ENSP00000302665:K142N	K	-	3	2	IGF1	101335888	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.784000	0.47774	2.610000	0.88304	0.655000	0.94253	AAG		PASS	0.468	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618		10	115	10	115	---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113307828	113307828	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:113307828C>T	ENST00000389385.4	+	10	1277	c.780C>T	c.(778-780)tcC>tcT	p.S260S	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Silent_p.S256S|RPH3A_ENST00000543106.2_Silent_p.S260S|RPH3A_ENST00000548866.1_Silent_p.S211S|RPH3A_ENST00000415485.3_Silent_p.S260S|RPH3A_ENST00000420983.2_Silent_p.S260S|RPH3A_ENST00000447659.2_Silent_p.S211S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	260	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.S256S(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTGGAGACTCCAGCCGGAGCC	0.547																																						uc010syl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(778-780)TCC>TCT		rabphilin 3A homolog isoform 1							30.0	36.0	34.0					12																	113307828		2203	4300	6503	SO:0001819	synonymous_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307828C>T	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.780C>T	12.37:g.113307828C>T						RPH3A_uc001ttz.2_Silent_p.S260S|RPH3A_uc001tty.2_Silent_p.S256S|RPH3A_uc009zwe.1_Silent_p.S256S|RPH3A_uc010sym.1_Silent_p.S211S|RPH3A_uc001tua.2_Silent_p.S20S	p.S260S	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	10	1142	+			260			Pro-rich.		B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	c.780C>T	CCDS44979.1																																																																																				PASS	0.547	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		4	16	4	16	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117669887	117669887	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:117669887G>A	ENST00000338101.4	-	22	3391	c.3387C>T	c.(3385-3387)atC>atT	p.I1129I	NOS1_ENST00000317775.6_Silent_p.I1095I|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.I1095I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AGGCCTGGAAGATGGTGCAGG	0.597																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(3283-3285)ATC>ATT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						75.0	83.0	80.0					12																	117669887		2170	4272	6442	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117669887G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3387C>T	12.37:g.117669887G>A							p.I1095I	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	22	3971	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1095			FAD-binding FR-type.			Silent	SNP	ENST00000338101.4	37	c.3285C>T	CCDS55890.1																																																																																				PASS	0.597	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			5	20	5	20	---	---	---	---
B3GNT4	79369	broad.mit.edu	37	12	122691663	122691663	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:122691663C>T	ENST00000324189.4	+	3	1221	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000535274.1_Missense_Mutation_p.R264W|B3GNT4_ENST00000546192.1_Missense_Mutation_p.R264W	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	289					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.R289W(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		AGCCACAGTGCGGCGCCTCCA	0.557																																						uc001ubx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(865-867)CGG>TGG		UDP-GlcNAc:betaGal							123.0	104.0	111.0					12																	122691663		2203	4300	6503	SO:0001583	missense	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691663C>T	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.865C>T	12.37:g.122691663C>T	ENSP00000319636:p.Arg289Trp					B3GNT4_uc001uby.2_Missense_Mutation_p.R264W	p.R289W	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	3	1083	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		289			Lumenal (Potential).		Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	c.865C>T	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	C	7.513	0.654990	0.14580	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.45276	0.9;0.9;0.9	5.5	1.19	0.21007	.	0.838313	0.10139	N	0.711147	T	0.38639	0.1048	M	0.76328	2.33	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.43278	-0.9401	10	0.56958	D	0.05	.	2.7186	0.05194	0.2859:0.4615:0.1094:0.1432	.	289	Q9C0J1	B3GN4_HUMAN	W	289;264;264	ENSP00000319636:R289W;ENSP00000438840:R264W;ENSP00000444534:R264W	ENSP00000319636:R289W	R	+	1	2	B3GNT4	121257616	0.000000	0.05858	0.044000	0.18714	0.031000	0.12232	-0.182000	0.09726	0.205000	0.20568	0.655000	0.94253	CGG		PASS	0.557	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		8	35	8	35	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124220151	124220151	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:124220151C>G	ENST00000330342.3	+	8	1053	c.805C>G	c.(805-807)Cgc>Ggc	p.R269G		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	269					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.R269G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCTGAACACCCGCATCCAGGA	0.493																																						uc001ufr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(805-807)CGC>GGC		ATPase, H+ transporting, lysosomal V0 subunit							92.0	79.0	83.0					12																	124220151		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124220151C>G	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.805C>G	12.37:g.124220151C>G	ENSP00000332247:p.Arg269Gly					ATP6V0A2_uc001ufq.1_Missense_Mutation_p.R269G	p.R269G	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	8	1053	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		269			Cytoplasmic (Potential).		A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.805C>G	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530743	0.64860	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.87103	-2.21;-2.21	5.97	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	M	0.90198	3.095	0.80722	D	1	B;D	0.89917	0.429;1.0	B;D	0.91635	0.431;0.999	D	0.95772	0.8809	10	0.87932	D	0	-31.4922	17.1779	0.86846	0.0:0.8737:0.1263:0.0	.	269;269	Q9Y487;Q8TBM3	VPP2_HUMAN;.	G	269;269;139	ENSP00000332247:R269G;ENSP00000443441:R139G	ENSP00000332247:R269G	R	+	1	0	ATP6V0A2	122786104	1.000000	0.71417	0.314000	0.25224	0.200000	0.23975	6.067000	0.71193	1.512000	0.48834	0.591000	0.81541	CGC		PASS	0.493	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		5	12	5	12	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133312095	133312095	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr12:133312095C>T	ENST00000357997.5	-	9	1686	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	ANKLE2_ENST00000542374.1_5'Flank|ANKLE2_ENST00000337516.5_Missense_Mutation_p.E533K|ANKLE2_ENST00000539605.1_Missense_Mutation_p.E471K	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	533					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.E533K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CGAAAATCTTCTGCCTATGAA	0.527																																						uc001ukx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1597-1599)GAA>AAA		ankyrin repeat and LEM domain containing 2							93.0	96.0	95.0					12																	133312095		1957	4154	6111	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133312095C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1597G>A	12.37:g.133312095C>T	ENSP00000350686:p.Glu533Lys					ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Missense_Mutation_p.E471K	p.E533K	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	9	1664	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	533					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1597G>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	19.81	3.895913	0.72639	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.24	5.24	0.73138	.	0.094910	0.64402	D	0.000001	T	0.60779	0.2295	L	0.55481	1.735	0.53005	D	0.999961	D;D	0.63046	0.992;0.992	P;P	0.61070	0.883;0.873	T	0.52668	-0.8545	10	0.19147	T	0.46	-11.2624	19.1737	0.93594	0.0:1.0:0.0:0.0	.	533;533	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	K	471;533;533;96	ENSP00000446268:E471K;ENSP00000350686:E533K;ENSP00000337651:E533K;ENSP00000437585:E96K	ENSP00000337651:E533K	E	-	1	0	ANKLE2	131822168	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.419000	0.66435	2.586000	0.87340	0.655000	0.94253	GAA		PASS	0.527	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			11	39	11	39	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111134895	111134895	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr13:111134895C>A	ENST00000360467.5	+	32	3097	c.2791C>A	c.(2791-2793)Caa>Aaa	p.Q931K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	931	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.Q931K(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGATGGTTTCCAAGGCATGCC	0.522																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(2791-2793)CAA>AAA		alpha 2 type IV collagen preproprotein							174.0	173.0	174.0					13																	111134895		1872	4094	5966	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111134895C>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2791C>A	13.37:g.111134895C>A	ENSP00000353654:p.Gln931Lys						p.Q931K	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		32	3080	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	931			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2791C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660447	0.29515	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93133	-3.17	5.14	3.18	0.36537	.	0.117656	0.37012	N	0.002300	D	0.85969	0.5821	L	0.29908	0.895	0.31988	N	0.604977	B	0.28470	0.213	B	0.28139	0.086	T	0.81269	-0.1009	10	0.22706	T	0.39	.	6.751	0.23487	0.3083:0.5466:0.1451:0.0	.	931	P08572	CO4A2_HUMAN	K	931	ENSP00000353654:Q931K	ENSP00000257309:Q931K	Q	+	1	0	COL4A2	109932896	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	1.641000	0.37197	1.151000	0.42436	0.655000	0.94253	CAA		PASS	0.522	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		5	140	5	140	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216239	20216239	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:20216239C>T	ENST00000331723.1	+	1	653	c.653C>T	c.(652-654)tCt>tTt	p.S218F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S218F(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTATTCTCTTATGCTATC	0.507																																						uc010tkt.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(652-654)TCT>TTT		olfactory receptor, family 4, subfamily Q,							196.0	157.0	171.0					14																	20216239		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216239C>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.653C>T	14.37:g.20216239C>T	ENSP00000330049:p.Ser218Phe						p.S218F	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	653	+	all_cancers(95;0.00108)		218			Helical; Name=5; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.653C>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	11.26	1.584875	0.28268	.	.	ENSG00000182652	ENST00000331723	T	0.42513	0.97	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	U	0.001226	T	0.72684	0.3491	H	0.94183	3.505	0.28069	N	0.932652	D	0.89917	1.0	D	0.97110	1.0	T	0.72297	-0.4335	10	0.87932	D	0	.	14.0955	0.65019	0.0:1.0:0.0:0.0	.	218	Q8NH05	OR4Q3_HUMAN	F	218	ENSP00000330049:S218F	ENSP00000330049:S218F	S	+	2	0	OR4Q3	19286079	0.990000	0.36364	0.804000	0.32291	0.057000	0.15508	3.307000	0.51888	2.166000	0.68216	0.509000	0.49947	TCT		PASS	0.507	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			11	63	11	63	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21548879	21548879	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:21548879G>T	ENST00000298694.4	+	12	2561	c.2434G>T	c.(2434-2436)Gac>Tac	p.D812Y	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.D812Y			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	812						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D812Y(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TATGCCTGGGGACACCTTGTC	0.647																																						uc001vzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2434-2436)GAC>TAC		hypothetical protein LOC55701							53.0	49.0	50.0					14																	21548879		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21548879G>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2434G>T	14.37:g.21548879G>T	ENSP00000298694:p.Asp812Tyr					FLJ10357_uc001vzo.1_5'UTR|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.D98Y	p.D812Y	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	12	2463	+	all_cancers(95;0.00185)		812					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.2434G>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203182	0.38905	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02944	4.16;4.1	5.14	4.24	0.50183	.	0.110120	0.40908	D	0.000997	T	0.04363	0.0120	L	0.27053	0.805	0.29228	N	0.873473	P;P	0.48407	0.891;0.91	P;P	0.51355	0.667;0.554	T	0.14504	-1.0470	10	0.56958	D	0.05	.	8.608	0.33784	0.1047:0.0:0.8953:0.0	.	812;812	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	Y	812	ENSP00000298694:D812Y;ENSP00000298693:D812Y	ENSP00000298693:D812Y	D	+	1	0	ARHGEF40	20618719	0.995000	0.38212	0.879000	0.34478	0.259000	0.26198	3.213000	0.51153	1.349000	0.45751	0.655000	0.94253	GAC		PASS	0.647	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			10	34	10	34	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23889431	23889431	+	Nonsense_Mutation	SNP	C	C	A	rs141735183		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:23889431C>A	ENST00000355349.3	-	27	3511	c.3349G>T	c.(3349-3351)Gag>Tag	p.E1117*	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1117					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.E1117*(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)		tcctccagctcctcGATGCGT	0.647																																						uc001wjx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3349-3351)GAG>TAG		myosin, heavy chain 7, cardiac muscle, beta		C	stop/GLU	1,4403		0,1,2201	15.0	16.0	16.0		3349	5.1	1.0	14	dbSNP_134	16	0,8560		0,0,4280	no	stop-gained	MYH7	NM_000257.2		0,1,6481	AA,AC,CC		0.0,0.0227,0.0077		1117/1936	23889431	1,12963	2202	4280	6482	SO:0001587	stop_gained	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.chr14:23889431C>A	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.3349G>T	14.37:g.23889431C>A	ENSP00000347507:p.Glu1117*					MIR208B_hsa-mir-208b|MI0005570_5'Flank	p.E1117*	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	27	3455	-	all_cancers(95;2.54e-05)		1117			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	ENST00000355349.3	37	c.3349G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	44	10.553625	0.99426	2.27E-4	0.0	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.771	0.91892	0.0:1.0:0.0:0.0	.	.	.	.	X	1117	.	ENSP00000347507:E1117X	E	-	1	0	MYH7	22959271	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.521000	0.81832	2.678000	0.91216	0.655000	0.94253	GAG		PASS	0.647	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		9	22	9	22	---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29237714	29237714	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:29237714T>G	ENST00000313071.4	+	1	1428	c.1229T>G	c.(1228-1230)cTc>cGc	p.L410R	FOXG1_ENST00000382535.3_Missense_Mutation_p.L410R	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	410					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L410R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTCAACCTGCTCGCGGGCCAG	0.687																																						uc001wqe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(1228-1230)CTC>CGC		forkhead box G1							49.0	40.0	43.0					14																	29237714		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237714T>G		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1229T>G	14.37:g.29237714T>G	ENSP00000339004:p.Leu410Arg						p.L410R	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1428	+			410					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1229T>G	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589009	0.46110	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94417	-3.42;-3.42	4.14	4.14	0.48551	.	0.083679	0.49305	U	0.000147	D	0.88775	0.6528	L	0.29908	0.895	0.58432	D	0.999995	P	0.37330	0.59	B	0.30251	0.113	D	0.88525	0.3099	10	0.45353	T	0.12	.	13.4664	0.61256	0.0:0.0:0.0:1.0	.	410	P55316	FOXG1_HUMAN	R	410	ENSP00000371975:L410R;ENSP00000339004:L410R	ENSP00000339004:L410R	L	+	2	0	FOXG1	28307465	1.000000	0.71417	0.973000	0.42090	0.939000	0.58152	4.113000	0.57851	1.633000	0.50488	0.402000	0.26972	CTC		PASS	0.687	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			4	27	4	27	---	---	---	---
EGLN3	112399	broad.mit.edu	37	14	34400377	34400377	+	Silent	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:34400377G>C	ENST00000250457.3	-	2	730	c.402C>G	c.(400-402)cgC>cgG	p.R134R	EGLN3_ENST00000553215.1_Silent_p.R40R	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	134	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)	p.R134R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	TGTCCACGTGGCGAACATAAC	0.473																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	uc001wsa.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(400-402)CGC>CGG		egl nine homolog 3	Vitamin C(DB00126)						137.0	121.0	126.0					14																	34400377		2203	4300	6503	SO:0001819	synonymous_variant	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34400377G>C	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.402C>G	14.37:g.34400377G>C						EGLN3_uc001wry.2_Silent_p.R40R|EGLN3_uc001wrz.2_Silent_p.R134R	p.R134R	NM_022073	NP_071356	Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	2	728	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		134			Fe2OG dioxygenase.		Q2TA79|Q3B8N4|Q6P1R2	Silent	SNP	ENST00000250457.3	37	c.402C>G	CCDS9646.1																																																																																				PASS	0.473	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			14	43	14	43	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061517	38061517	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:38061517C>T	ENST00000250448.2	-	2	533	c.472G>A	c.(472-474)Gac>Aac	p.D158N	FOXA1_ENST00000540786.1_Missense_Mutation_p.D125N|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	158					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D158N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTCTTGGCGTcgccgccgccg	0.697																																						uc001wuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)GAC>AAC		forkhead box A1							46.0	44.0	44.0					14																	38061517		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061517C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.472G>A	14.37:g.38061517C>T	ENSP00000250448:p.Asp158Asn					FOXA1_uc010tpz.1_Missense_Mutation_p.D125N	p.D158N	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	784	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		158					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.472G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977278	0.34848	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.18810	2.19;2.19	4.12	3.22	0.36961	Fork-head N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	M	0.71036	2.16	0.48830	D	0.999717	D	0.65815	0.995	P	0.55785	0.784	T	0.05716	-1.0868	10	0.45353	T	0.12	.	8.734	0.34516	0.1698:0.6654:0.1647:0.0	.	158	P55317	FOXA1_HUMAN	N	158;125	ENSP00000250448:D158N;ENSP00000440178:D125N	ENSP00000250448:D158N	D	-	1	0	FOXA1	37131268	0.961000	0.32948	0.988000	0.46212	0.031000	0.12232	3.944000	0.56629	0.922000	0.37019	0.505000	0.49811	GAC		PASS	0.697	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			13	31	13	31	---	---	---	---
RPL10L	140801	broad.mit.edu	37	14	47120615	47120615	+	Missense_Mutation	SNP	C	C	G	rs11557561		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:47120615C>G	ENST00000298283.3	-	1	413	c.325G>C	c.(325-327)Gac>Cac	p.D109H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	109					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.D109H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TGGAGCCTGTCAGCCCCAGCA	0.547																																						uc001wwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(325-327)GAC>CAC		ribosomal protein L10-like protein							63.0	61.0	62.0					14																	47120615		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120615C>G	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.325G>C	14.37:g.47120615C>G	ENSP00000298283:p.Asp109His						p.D109H	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	414	-			109					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.325G>C	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605370	0.66445	.	.	ENSG00000165496	ENST00000298283	D	0.83837	-1.77	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (2);Ribosomal protein L10e, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91606	0.7348	H	0.99877	4.88	0.80722	D	1	B	0.02656	0.0	B	0.24006	0.05	D	0.91821	0.5467	10	0.87932	D	0	-53.23	15.1202	0.72438	0.0:1.0:0.0:0.0	.	109	Q96L21	RL10L_HUMAN	H	109	ENSP00000298283:D109H	ENSP00000298283:D109H	D	-	1	0	RPL10L	46190365	1.000000	0.71417	0.964000	0.40570	0.998000	0.95712	7.026000	0.76455	2.688000	0.91661	0.655000	0.94253	GAC		PASS	0.547	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			9	45	9	45	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190544	72190544	+	Silent	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:72190544G>C	ENST00000555818.1	+	16	4800	c.4452G>C	c.(4450-4452)ctG>ctC	p.L1484L	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Silent_p.L1463L|SIPA1L1_ENST00000537413.1_Silent_p.L938L|SIPA1L1_ENST00000358550.2_Silent_p.L1463L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1484	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.L1484L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCAAGTACCTGATTGGATGGA	0.512																																						uc001xms.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(4450-4452)CTG>CTC		signal-induced proliferation-associated 1 like							103.0	111.0	108.0					14																	72190544		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190544G>C	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4452G>C	14.37:g.72190544G>C						SIPA1L1_uc001xmt.2_Silent_p.L1463L|SIPA1L1_uc001xmu.2_Silent_p.L1463L|SIPA1L1_uc001xmv.2_Silent_p.L1484L|SIPA1L1_uc010ttm.1_Silent_p.L938L|SIPA1L1_uc001xmw.2_Silent_p.L249L	p.L1484L	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4800	+			1484			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.4452G>C	CCDS9807.1																																																																																				PASS	0.512	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		10	131	10	131	---	---	---	---
ANGEL1	23357	broad.mit.edu	37	14	77272759	77272759	+	Splice_Site	SNP	C	C	T	rs181032280		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:77272759C>T	ENST00000251089.2	-	5	1492	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	ANGEL1_ENST00000557179.1_5'Flank|ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	460								p.K460K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCCATTTCACCTTCCAGGCTG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20240	0.001		0.0	False		,,,				2504	0.0					uc001xsv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1378-1380)AAG>AAA		angel homolog 1							77.0	63.0	68.0					14																	77272759		2203	4300	6503	SO:0001630	splice_region_variant	23357							g.chr14:77272759C>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1380+1G>A	14.37:g.77272759C>T						ANGEL1_uc010tvf.1_Intron	p.K460K	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	5	1493	-			460					B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.1380G>A	CCDS9852.1																																																																																				PASS	0.532	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305	Silent	5	37	5	37	---	---	---	---
CPSF2	53981	broad.mit.edu	37	14	92622903	92622903	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:92622903A>G	ENST00000298875.4	+	12	1808	c.1523A>G	c.(1522-1524)gAt>gGt	p.D508G		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	508					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.D508G(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		ACAAATGGAGATGAACCTATG	0.323																																					Ovarian(78;28 1788 18702 44111)	uc001yah.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1522-1524)GAT>GGT		cleavage and polyadenylation specific factor 2							103.0	108.0	107.0					14																	92622903		2202	4299	6501	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92622903A>G	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1523A>G	14.37:g.92622903A>G	ENSP00000298875:p.Asp508Gly						p.D508G	NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	12	1760	+		all_cancers(154;0.0766)	508					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.1523A>G	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.164549	0.57476	.	.	ENSG00000165934	ENST00000298875	T	0.47177	0.85	5.69	5.69	0.88448	.	0.222293	0.47093	D	0.000252	T	0.39384	0.1076	L	0.34521	1.04	0.52099	D	0.999948	B	0.02656	0.0	B	0.06405	0.002	T	0.12993	-1.0526	10	0.33141	T	0.24	.	15.9592	0.79914	1.0:0.0:0.0:0.0	.	508	Q9P2I0	CPSF2_HUMAN	G	508	ENSP00000298875:D508G	ENSP00000298875:D508G	D	+	2	0	CPSF2	91692656	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	8.850000	0.92190	2.180000	0.69256	0.482000	0.46254	GAT		PASS	0.323	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			15	74	15	74	---	---	---	---
C14orf177	283598	broad.mit.edu	37	14	99183521	99183521	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:99183521A>G	ENST00000325812.2	+	4	707	c.288A>G	c.(286-288)atA>atG	p.I96M		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	96								p.I96M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ATCACCAAATAATGTCTGCTT	0.423																																						uc001yfz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)ATA>ATG		hypothetical protein LOC283598							137.0	109.0	119.0					14																	99183521		2203	4300	6503	SO:0001583	missense	283598							g.chr14:99183521A>G	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.288A>G	14.37:g.99183521A>G	ENSP00000321360:p.Ile96Met						p.I96M	NM_182560	NP_872366	Q52M58	CN177_HUMAN			4	707	+		Melanoma(154;0.128)	96					Q8N7D2	Missense_Mutation	SNP	ENST00000325812.2	37	c.288A>G	CCDS9948.1	.	.	.	.	.	.	.	.	.	.	A	7.894	0.732967	0.15507	.	.	ENSG00000176605	ENST00000325812	T	0.38722	1.12	3.13	-2.65	0.06095	.	.	.	.	.	T	0.19046	0.0457	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.17561	-1.0365	9	0.87932	D	0	.	4.1782	0.10362	0.4752:0.1815:0.3433:0.0	.	96	Q52M58	CN177_HUMAN	M	96	ENSP00000321360:I96M	ENSP00000321360:I96M	I	+	3	3	C14orf177	98253274	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.004000	0.01461	-0.574000	0.05990	-0.177000	0.13119	ATA		PASS	0.423	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560		17	68	17	68	---	---	---	---
ASPG	374569	broad.mit.edu	37	14	104559906	104559906	+	Silent	SNP	C	C	T	rs374153867		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:104559906C>T	ENST00000551177.1	+	3	362	c.270C>T	c.(268-270)atC>atT	p.I90I	ASPG_ENST00000455920.2_Silent_p.I90I|ASPG_ENST00000546892.2_Silent_p.I90I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	90	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)	p.I118I(1)|p.I90I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						ACATGACCATCGCTGAGTGGG	0.632																																						uc001yoq.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(268-270)ATC>ATT		60 kDa lysophospholipase		C		1,4159		0,1,2079	85.0	97.0	93.0		270	2.6	1.0	14		93	0,8382		0,0,4191	no	coding-synonymous	ASPG	NM_001080464.2		0,1,6270	TT,TC,CC		0.0,0.024,0.0080		90/574	104559906	1,12541	2080	4191	6271	SO:0001819	synonymous_variant	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104559906C>T		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.270C>T	14.37:g.104559906C>T						ASPG_uc001yoo.1_Silent_p.I118I|ASPG_uc001yop.1_Silent_p.I90I|ASPG_uc001yor.1_Silent_p.I90I	p.I90I	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN			3	330	+			90			Asparaginase.		B9EGQ2|Q8IV80	Silent	SNP	ENST00000551177.1	37	c.270C>T	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	C	8.149	0.786918	0.16189	2.4E-4	0.0	ENSG00000166183	ENST00000551170	.	.	.	3.57	2.64	0.31445	.	.	.	.	.	T	0.45115	0.1326	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.39941	-0.9589	4	.	.	.	-27.1396	2.8621	0.05590	0.1808:0.5296:0.1768:0.1129	.	.	.	.	C	27	.	.	R	+	1	0	ASPG	103629659	0.012000	0.17670	0.966000	0.40874	0.661000	0.39034	0.006000	0.13152	1.720000	0.51447	0.491000	0.48974	CGC		PASS	0.632	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		20	79	20	79	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105411849	105411849	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:105411849G>A	ENST00000333244.5	-	7	10058	c.9939C>T	c.(9937-9939)ttC>ttT	p.F3313F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3313						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.F3313F(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGGCATCTTGAATTTGGGCA	0.622																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(9937-9939)TTC>TTT		AHNAK nucleoprotein 2							204.0	199.0	201.0					14																	105411849		2003	4164	6167	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105411849G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9939C>T	14.37:g.105411849G>A						AHNAK2_uc001ypx.2_Silent_p.F3213F	p.F3313F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10059	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3313					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9939C>T	CCDS45177.1																																																																																				PASS	0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		14	352	14	352	---	---	---	---
IGHG1	3500	broad.mit.edu	37	14	106209343	106209343	+	RNA	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr14:106209343T>A	ENST00000390548.2	-	0	65							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCAGGGCTGCTGTGCCCCCAG	0.672																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							28.0	28.0	28.0					14																	106209343		1994	4145	6139			8755							g.chr14:106209343T>A	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106209343T>A						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_5'UTR|uc001ysf.2_5'UTR|uc001ysg.1_RNA								3625		-									RNA	SNP	ENST00000390548.2	37	c.58380A>T																																																																																					PASS	0.672	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		5	19	5	19	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22382701	22382701	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr15:22382701G>T	ENST00000328795.4	+	1	320	c.229G>T	c.(229-231)Gtg>Ttg	p.V77L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V77L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCCTTCATTGTGGCTCCCAG	0.493																																						uc001yuc.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(229-231)GTG>TTG		olfactory receptor, family 4, subfamily N,							153.0	145.0	148.0					15																	22382701		2203	4300	6503	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382701G>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.229G>T	15.37:g.22382701G>T	ENSP00000332500:p.Val77Leu					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.V77L	p.V77L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1210	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	77			Helical; Name=2; (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.229G>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	7.375	0.627520	0.14257	.	.	ENSG00000183706	ENST00000328795	T	0.01725	4.67	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000566	T	0.01940	0.0061	L	0.52759	1.655	0.25126	N	0.990608	P	0.42409	0.779	B	0.36666	0.23	T	0.46076	-0.9217	10	0.66056	D	0.02	-11.6498	6.4432	0.21861	0.1387:0.0:0.8613:0.0	.	77	Q8N0Y3	OR4N4_HUMAN	L	77	ENSP00000332500:V77L	ENSP00000332500:V77L	V	+	1	0	OR4N4	19884065	0.000000	0.05858	1.000000	0.80357	0.028000	0.11728	0.481000	0.22260	1.793000	0.52555	0.184000	0.17185	GTG		PASS	0.493	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			18	190	18	190	---	---	---	---
INO80	54617	broad.mit.edu	37	15	41280040	41280040	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr15:41280040G>A	ENST00000361937.3	-	30	4127	c.3703C>T	c.(3703-3705)Ctg>Ttg	p.L1235L	INO80_ENST00000401393.3_Silent_p.L1235L|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1235	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.L1235L(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTCTTTGCAGAATGCGTTCT	0.502																																						uc001zni.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(3703-3705)CTG>TTG		INO80 complex homolog 1							356.0	320.0	332.0					15																	41280040		2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41280040G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3703C>T	15.37:g.41280040G>A						INO80_uc010ucu.1_RNA	p.L1235L	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			30	3916	-			1235			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.3703C>T	CCDS10071.1																																																																																				PASS	0.502	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		12	214	12	214	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42042356	42042356	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr15:42042356G>T	ENST00000570161.1	+	16	6551	c.6551G>T	c.(6550-6552)aGg>aTg	p.R2184M	MGA_ENST00000389936.4_Missense_Mutation_p.R2145M|MGA_ENST00000566586.1_Missense_Mutation_p.R1975M|MGA_ENST00000219905.7_Missense_Mutation_p.R2184M|MGA_ENST00000545763.1_Missense_Mutation_p.R1975M			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R2233M(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCTTAACCAGGAAATGTGTT	0.428																																						uc010ucy.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(6550-6552)AGG>ATG		MAX-interacting protein isoform 1							93.0	92.0	92.0					15																	42042356		1865	4106	5971	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042356G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6551G>T	15.37:g.42042356G>T	ENSP00000457035:p.Arg2184Met					MGA_uc010ucz.1_Missense_Mutation_p.R1975M|MGA_uc010uda.1_Missense_Mutation_p.R800M|MGA_uc001zoi.2_Missense_Mutation_p.R398M	p.R2184M	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6732	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2145			Basic motif.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.6551G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	3.543	-0.093224	0.07053	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83673	-1.74;-1.75;-1.74	4.7	-1.34	0.09143	.	2.102990	0.02238	N	0.065464	T	0.67942	0.2947	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30709	0.138;0.216;0.291;0.291	B;B;B;B	0.31337	0.06;0.128;0.087;0.087	T	0.60627	-0.7226	10	0.66056	D	0.02	.	5.4493	0.16554	0.6767:0.1544:0.1688:0.0	.	800;1975;2184;2145	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	M	2184;2145;1975	ENSP00000219905:R2184M;ENSP00000374586:R2145M;ENSP00000442467:R1975M	ENSP00000219905:R2184M	R	+	2	0	MGA	39829648	0.000000	0.05858	0.001000	0.08648	0.364000	0.29643	-0.707000	0.05041	-0.281000	0.09141	0.467000	0.42956	AGG		PASS	0.428	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		22	75	22	75	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54685268	54685268	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr15:54685268G>C	ENST00000260323.11	+	17	4736	c.4736G>C	c.(4735-4737)cGt>cCt	p.R1579P	UNC13C_ENST00000545554.1_Missense_Mutation_p.R1579P|UNC13C_ENST00000537900.1_Missense_Mutation_p.R1577P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1579					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R1579P(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATATTCCTCGTGAAGATCAG	0.388																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(4735-4737)CGT>CCT		unc-13 homolog C							117.0	113.0	114.0					15																	54685268		1863	4088	5951	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54685268G>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4736G>C	15.37:g.54685268G>C	ENSP00000260323:p.Arg1579Pro					UNC13C_uc002acl.2_Missense_Mutation_p.R409P	p.R1579P	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	16	4736	+			1579					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4736G>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388030	0.25118	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79141	-1.24;-1.23;-1.24	5.34	3.46	0.39613	Calcium-dependent secretion activator (1);	0.232651	0.36409	N	0.002604	T	0.59238	0.2179	N	0.01576	-0.805	0.34448	D	0.700351	B;D	0.56287	0.0;0.975	B;P	0.53912	0.004;0.737	T	0.64495	-0.6394	10	0.21014	T	0.42	.	8.8774	0.35354	0.2462:0.0:0.7538:0.0	.	1579;1579	F5H090;Q8NB66	.;UN13C_HUMAN	P	1579;1579;1577	ENSP00000260323:R1579P;ENSP00000438156:R1579P;ENSP00000442569:R1577P	ENSP00000260323:R1579P	R	+	2	0	UNC13C	52472560	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.030000	0.49720	0.644000	0.30656	0.650000	0.86243	CGT		PASS	0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		12	54	12	54	---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75684849	75684849	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr15:75684849G>C	ENST00000394947.3	-	15	2899	c.2585C>G	c.(2584-2586)cCt>cGt	p.P862R	SIN3A_ENST00000360439.4_Missense_Mutation_p.P862R|SIN3A_ENST00000394949.4_Missense_Mutation_p.P862R	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.P862R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTTGGACTTAGGGGGACTGCC	0.428																																						uc002bai.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)	5						c.(2584-2586)CCT>CGT		transcriptional co-repressor Sin3A							154.0	151.0	152.0					15																	75684849		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684849G>C	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2585C>G	15.37:g.75684849G>C	ENSP00000378402:p.Pro862Arg					SIN3A_uc002baj.2_Missense_Mutation_p.P862R|SIN3A_uc010uml.1_Missense_Mutation_p.P862R	p.P862R	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			15	2844	-			862						Missense_Mutation	SNP	ENST00000394947.3	37	c.2585C>G	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937392	0.52972	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.45276	0.9;0.9;0.9	5.67	5.67	0.87782	.	0.047903	0.85682	D	0.000000	T	0.32971	0.0847	L	0.29908	0.895	0.80722	D	1	B	0.25007	0.116	B	0.16722	0.016	T	0.08351	-1.0726	10	0.17369	T	0.5	-15.2167	18.7609	0.91851	0.0:0.0:1.0:0.0	.	862	Q96ST3	SIN3A_HUMAN	R	862	ENSP00000378402:P862R;ENSP00000378403:P862R;ENSP00000353622:P862R	ENSP00000353622:P862R	P	-	2	0	SIN3A	73471902	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.873000	0.87193	2.687000	0.91594	0.655000	0.94253	CCT		PASS	0.428	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		5	87	5	87	---	---	---	---
ST20	400410	broad.mit.edu	37	15	80191279	80191279	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr15:80191279G>C	ENST00000478497.1	-	3	913	c.234C>G	c.(232-234)taC>taG	p.Y78*	MTHFS_ENST00000559722.1_5'Flank|ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000562759.1_Nonsense_Mutation_p.Y78*|MTHFS_ENST00000258874.3_5'Flank|ST20-MTHFS_ENST00000494999.1_Intron|ST20_ENST00000485386.1_Nonsense_Mutation_p.Y78*	NM_001100879.1	NP_001094349.1	Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20	78					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Y78*(1)		kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTATTTAAAAGTAGAAGTATG	0.338																																						uc002bez.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(232-234)TAC>TAG		cervical cancer suppressor-1							73.0	78.0	76.0					15																	80191279		2197	4295	6492	SO:0001587	stop_gained	400410							g.chr15:80191279G>C	AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000478497.1:c.234C>G	15.37:g.80191279G>C	ENSP00000453502:p.Tyr78*					ST20_uc002bfa.3_Nonsense_Mutation_p.Y78*|MTHFS_uc002bex.3_5'Flank	p.Y78*	NM_001100879	NP_001094349	Q9HBF5	ST20_HUMAN			3	914	-			78						Nonsense_Mutation	SNP	ENST00000478497.1	37	c.234C>G	CCDS42067.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154392	0.57259	.	.	ENSG00000180953	ENST00000322484;ENST00000417278	.	.	.	1.67	-0.43	0.12299	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9307	0.09283	0.4854:0.0:0.5146:0.0	.	.	.	.	X	78	.	ENSP00000319125:Y78X	Y	-	3	2	ST20	77978334	0.005000	0.15991	0.000000	0.03702	0.445000	0.32107	0.660000	0.25009	-0.110000	0.12022	0.205000	0.17691	TAC		PASS	0.338	ST20-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416728.2			3	62	3	62	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100341295	100341295	+	RNA	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr15:100341295C>A	ENST00000341853.1	-	0	351					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										AGGAGTCCACCAGGTTCTGGG	0.547																																						uc010urx.1																			0					0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							52.0	48.0	49.0					15																	100341295		1553	3570	5123			196968							g.chr15:100341295C>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100341295C>A						C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|C15orf51_uc010bow.2_RNA		NR_003260						3		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.352G>T																																																																																					PASS	0.547	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	50	4	50	---	---	---	---
E4F1	1877	broad.mit.edu	37	16	2282275	2282275	+	Silent	SNP	C	C	G	rs149258624		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:2282275C>G	ENST00000301727.4	+	4	567	c.519C>G	c.(517-519)ctC>ctG	p.L173L	E4F1_ENST00000565090.1_Silent_p.L173L|E4F1_ENST00000564139.1_Silent_p.L173L	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	173					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L173L(1)		ovary(1)	1						GGCTGGGGCTCGCAGGGGAGG	0.667																																						uc002cpm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(517-519)CTC>CTG		p120E4F							41.0	49.0	46.0					16																	2282275		2195	4300	6495	SO:0001819	synonymous_variant	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2282275C>G	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.519C>G	16.37:g.2282275C>G						E4F1_uc010bsi.2_Silent_p.L173L|E4F1_uc010bsj.2_Silent_p.L173L	p.L173L	NM_004424	NP_004415	Q66K89	E4F1_HUMAN			4	567	+			173					A8K2R4|O00146	Silent	SNP	ENST00000301727.4	37	c.519C>G	CCDS32370.1																																																																																				PASS	0.667	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		9	28	9	28	---	---	---	---
ZSCAN32	54925	broad.mit.edu	37	16	3434852	3434852	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:3434852G>C	ENST00000396852.4	-	6	1148	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.Q69E|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.Q69E|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.Q281E|ZSCAN32_ENST00000573830.1_5'UTR|ZSCAN32_ENST00000439568.2_5'UTR|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.Q281E	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	281	KRAB.				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)	p.Q69E(1)									CTGTTCTGCTGACAGGTCTGG	0.527																																						uc002cuz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(205-207)CAG>GAG		zinc finger protein 434							98.0	104.0	102.0					16																	3434852		2197	4300	6497	SO:0001583	missense	54925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3434852G>C	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.841C>G	16.37:g.3434852G>C	ENSP00000380061:p.Gln281Glu					ZNF434_uc002cux.3_Missense_Mutation_p.Q280E|ZNF434_uc010uwx.1_5'UTR|ZNF434_uc002cuy.3_5'UTR|ZNF434_uc010uwy.1_5'UTR|ZNF434_uc010uwz.1_Missense_Mutation_p.Q280E|ZNF434_uc010uxa.1_Missense_Mutation_p.Q69E	p.Q69E	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN			5	1007	-			69					B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.205C>G		.	.	.	.	.	.	.	.	.	.	G	8.002	0.755681	0.15846	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000422427	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	3.68	0.437	0.16555	.	0.983037	0.08220	U	0.979350	T	0.36276	0.0961	L	0.29908	0.895	0.09310	N	1	B;P;P	0.51147	0.121;0.942;0.884	B;P;B	0.48704	0.156;0.587;0.403	T	0.25641	-1.0126	10	0.52906	T	0.07	.	6.2606	0.20897	0.3631:0.0:0.6369:0.0	.	69;69;281	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	E	69;281;281;69	ENSP00000302502:Q69E;ENSP00000380061:Q281E;ENSP00000380057:Q281E;ENSP00000407312:Q69E	ENSP00000302502:Q69E	Q	-	1	0	ZNF434	3374853	0.000000	0.05858	0.001000	0.08648	0.110000	0.19582	-0.128000	0.10531	0.110000	0.17919	0.655000	0.94253	CAG		PASS	0.527	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		4	112	4	112	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9862740	9862740	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:9862740C>G	ENST00000396573.2	-	13	2872	c.2563G>C	c.(2563-2565)Gac>Cac	p.D855H	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D855H|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D698H|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D855H|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D855H|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D855H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	855					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.D855H(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCAGGCCGGTCGGAGCACACG	0.567																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2563-2565)GAC>CAC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						88.0	92.0	91.0					16																	9862740		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9862740C>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2563G>C	16.37:g.9862740C>G	ENSP00000379818:p.Asp855His					GRIN2A_uc010uym.1_Missense_Mutation_p.D855H|GRIN2A_uc010uyn.1_Missense_Mutation_p.D698H|GRIN2A_uc002czr.3_Missense_Mutation_p.D855H	p.D855H	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			12	3111	-			855			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2563G>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729394	0.69074	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11604	2.77;2.77;2.76;2.77;2.77	4.44	4.44	0.53790	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.050824	0.85682	D	0.000000	T	0.26629	0.0651	L	0.51422	1.61	0.40240	D	0.977947	D;D;D	0.65815	0.993;0.995;0.989	D;D;P	0.71184	0.953;0.972;0.862	T	0.01561	-1.1324	9	.	.	.	.	16.4401	0.83898	0.0:1.0:0.0:0.0	.	698;855;855	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	H	855;855;698;855;855	ENSP00000379818:D855H;ENSP00000385872:D855H;ENSP00000441572:D698H;ENSP00000332549:D855H;ENSP00000379820:D855H	.	D	-	1	0	GRIN2A	9770241	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.684000	0.84104	2.170000	0.68504	0.563000	0.77884	GAC		PASS	0.567	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			15	79	15	79	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20422839	20422839	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:20422839G>A	ENST00000331849.4	+	2	180	c.33G>A	c.(31-33)caG>caA	p.Q11Q	ACSM5_ENST00000575584.1_Silent_p.Q11Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	11					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.Q11Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TAGTCCTCCAGGCACTGAGGA	0.557																																						uc002dhe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(31-33)CAG>CAA		acyl-CoA synthetase medium-chain family member 5							74.0	64.0	67.0					16																	20422839		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20422839G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.33G>A	16.37:g.20422839G>A						ACSM5_uc002dhd.1_Silent_p.Q11Q	p.Q11Q	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			2	180	+			11					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.33G>A	CCDS10585.1																																																																																				PASS	0.557	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		7	21	7	21	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100411	30100411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:30100411C>T	ENST00000395224.2	-	4	533	c.474G>A	c.(472-474)tgG>tgA	p.W158*	TBX6_ENST00000553607.1_Nonsense_Mutation_p.W158*|TBX6_ENST00000279386.2_Nonsense_Mutation_p.W158*	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	158					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W158*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CGCTGGGCTCCCAGCGCCGGC	0.647																																						uc010veh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(472-474)TGG>TGA		T-box 6							44.0	50.0	48.0					16																	30100411		2197	4299	6496	SO:0001587	stop_gained	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100411C>T	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.474G>A	16.37:g.30100411C>T	ENSP00000378650:p.Trp158*					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Nonsense_Mutation_p.W158*	p.W158*	NM_004608	NP_004599	O95947	TBX6_HUMAN			4	534	-			158			T-box.		Q8TAS4|Q9HA44	Nonsense_Mutation	SNP	ENST00000395224.2	37	c.474G>A	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854911	0.91355	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9759	0.86313	0.0:1.0:0.0:0.0	.	.	.	.	X	158	.	ENSP00000279386:W158X	W	-	3	0	TBX6	30007912	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.409000	0.59768	2.747000	0.94245	0.462000	0.41574	TGG		PASS	0.647	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		4	27	4	27	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30102165	30102165	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:30102165C>T	ENST00000395224.2	-	3	326	c.267G>A	c.(265-267)ccG>ccA	p.P89P	TBX6_ENST00000553607.1_Silent_p.P89P|TBX6_ENST00000279386.2_Silent_p.P89P|YPEL3_ENST00000565479.1_5'Flank	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	89					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P89P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GGCTGACCCCCGGGAGGGAAT	0.662																																						uc010veh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(265-267)CCG>CCA		T-box 6							36.0	40.0	38.0					16																	30102165		2197	4300	6497	SO:0001819	synonymous_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30102165C>T	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.267G>A	16.37:g.30102165C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Silent_p.P89P	p.P89P	NM_004608	NP_004599	O95947	TBX6_HUMAN			3	327	-			89					Q8TAS4|Q9HA44	Silent	SNP	ENST00000395224.2	37	c.267G>A	CCDS10670.1																																																																																				PASS	0.662	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		5	17	5	17	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56906359	56906359	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:56906359T>A	ENST00000563236.1	+	7	974	c.949T>A	c.(949-951)Ttc>Atc	p.F317I	SLC12A3_ENST00000438926.2_Missense_Mutation_p.F317I|SLC12A3_ENST00000566786.1_Missense_Mutation_p.F316I|SLC12A3_ENST00000262502.5_Missense_Mutation_p.F316I			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	317					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.F317I(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)	CTCCAAAGGCTTCTTCAGCTA	0.567																																						uc010ccm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(949-951)TTC>ATC		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						81.0	73.0	76.0					16																	56906359		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56906359T>A		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.949T>A	16.37:g.56906359T>A	ENSP00000456149:p.Phe317Ile					SLC12A3_uc002ekd.3_Missense_Mutation_p.F317I|SLC12A3_uc010ccn.2_Missense_Mutation_p.F316I	p.F317I	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			7	978	+			317					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.949T>A	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628527	0.87560	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	D	0.98717	-5.09	5.72	5.72	0.89469	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	M	0.62723	1.935	0.80722	D	1	B;B;B	0.29378	0.243;0.109;0.089	B;B;B	0.38500	0.275;0.226;0.145	D	0.97948	1.0330	10	0.62326	D	0.03	.	15.9826	0.80125	0.0:0.0:0.0:1.0	.	316;317;317	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	I	316;317	ENSP00000262502:F317I	ENSP00000262502:F317I	F	+	1	0	SLC12A3	55463860	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.152000	0.71812	2.182000	0.69389	0.459000	0.35465	TTC		PASS	0.567	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			6	32	6	32	---	---	---	---
ELMO3	79767	broad.mit.edu	37	16	67236282	67236282	+	Intron	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:67236282C>G	ENST00000360833.1	+	13	1426				ELMO3_ENST00000393997.2_Intron|ELMO3_ENST00000477898.1_Intron|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3						apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CTGAGCCCCTCCTGCCCCCCC	0.632																																						hsa-mir-328|MI0000804																			0					0															71.0	71.0	71.0					16																	67236282		2198	4300	6498	SO:0001627	intron_variant	442901							g.chr16:67236282C>G		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1370-18C>G	16.37:g.67236282C>G						ELMO3_uc002esa.2_Intron|ELMO3_uc002esb.2_Intron|ELMO3_uc002esc.2_Intron|uc010vjf.1_RNA										-								B4DV86|Q9H8A5	RNA	SNP	ENST00000360833.1	37	c.17C>G																																																																																					PASS	0.632	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		4	59	4	59	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821790	72821790	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:72821790T>C	ENST00000268489.5	-	10	11057	c.10385A>G	c.(10384-10386)cAg>cGg	p.Q3462R	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q2548R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3462					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3462R(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAACTTGTACTGCACCTTTGG	0.597																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(10384-10386)CAG>CGG		zinc finger homeobox 3 isoform A							83.0	84.0	84.0					16																	72821790		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821790T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10385A>G	16.37:g.72821790T>C	ENSP00000268489:p.Gln3462Arg					ZFHX3_uc002fcl.2_Missense_Mutation_p.Q2548R	p.Q3462R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	11058	-		Ovarian(137;0.13)	3462					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.10385A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.807737	0.31961	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.87029	-2.2;-2.2	4.3	4.3	0.51218	.	0.000000	0.45867	D	0.000333	D	0.83308	0.5226	L	0.40543	1.245	0.54753	D	0.999986	D	0.53885	0.963	P	0.44359	0.447	D	0.84430	0.0576	10	0.49607	T	0.09	.	13.7526	0.62917	0.0:0.0:0.0:1.0	.	3462	Q15911	ZFHX3_HUMAN	R	3462;2548	ENSP00000268489:Q3462R;ENSP00000438926:Q2548R	ENSP00000268489:Q3462R	Q	-	2	0	ZFHX3	71379291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.040000	0.70980	1.719000	0.51432	0.455000	0.32223	CAG		PASS	0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	50	13	50	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74497334	74497334	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:74497334A>C	ENST00000422840.2	-	20	2710	c.2711T>G	c.(2710-2712)tTg>tGg	p.L904W	GLG1_ENST00000447066.2_Missense_Mutation_p.L893W|GLG1_ENST00000205061.5_Missense_Mutation_p.L904W|Y_RNA_ENST00000384794.1_RNA	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	904					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.L904W(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ATTTTGCTTCAAGCACTGCAA	0.413																																						uc002fcy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2710-2712)TTG>TGG		golgi apparatus protein 1 isoform 3							287.0	236.0	253.0					16																	74497334		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74497334A>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2711T>G	16.37:g.74497334A>C	ENSP00000405984:p.Leu904Trp					GLG1_uc002fcx.2_Missense_Mutation_p.L904W|GLG1_uc002fcw.3_Missense_Mutation_p.L893W|GLG1_uc002fcz.3_Missense_Mutation_p.L321W	p.L904W	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			20	2761	-			904			Cys-rich GLG1 13.|Extracellular (Potential).		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.2711T>G	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765838	0.90020	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;1.0;0.998	T	0.82532	-0.0410	9	0.87932	D	0	-20.8465	16.5724	0.84622	1.0:0.0:0.0:0.0	.	34;904;904;893	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	W	904;893;904	.	ENSP00000205061:L904W	L	-	2	0	GLG1	73054835	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.310000	0.96267	2.313000	0.78055	0.455000	0.32223	TTG		PASS	0.413	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		12	33	12	33	---	---	---	---
DEF8	54849	broad.mit.edu	37	16	90015915	90015915	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr16:90015915G>A	ENST00000268676.7	+	2	131	c.42G>A	c.(40-42)gcG>gcA	p.A14A	DEF8_ENST00000418391.2_De_novo_Start_OutOfFrame|DEF8_ENST00000563795.1_De_novo_Start_OutOfFrame|DEF8_ENST00000567874.1_De_novo_Start_OutOfFrame|DEF8_ENST00000570182.1_De_novo_Start_OutOfFrame|DEF8_ENST00000563594.1_De_novo_Start_OutOfFrame|DEF8_ENST00000569453.1_De_novo_Start_OutOfFrame	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	14					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)	p.A14A(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCTGGCAGGCGATGCAGGTAT	0.662																																						uc002fpn.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(40-42)GCG>GCA		differentially expressed in FDCP 8 isoform 1							59.0	59.0	59.0					16																	90015915		2198	4300	6498	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90015915G>A	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.42G>A	16.37:g.90015915G>A						DEF8_uc002fpl.2_5'UTR|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_5'UTR|DEF8_uc002fpp.1_5'UTR|DEF8_uc010vpq.1_5'UTR|DEF8_uc010vpr.1_5'UTR	p.A14A	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	2	131	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	14					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.42G>A	CCDS10989.1																																																																																				PASS	0.662	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		10	44	10	44	---	---	---	---
SLC35G6	643664	broad.mit.edu	37	17	7386197	7386197	+	Silent	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr17:7386197T>C	ENST00000412468.2	+	2	1009	c.894T>C	c.(892-894)taT>taC	p.Y298Y	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	298	EamA 2.					integral component of membrane (GO:0016021)		p.Y298Y(1)									TACTGCAGTATTATATGCTCC	0.572																																						uc010cmj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(892-894)TAT>TAC		acyl-malonyl condensing enzyme 1-like 3							176.0	165.0	169.0					17																	7386197		2203	4300	6503	SO:0001819	synonymous_variant	643664					integral to membrane		g.chr17:7386197T>C		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.894T>C	17.37:g.7386197T>C						ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	p.Y298Y	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN			2	1009	+		Prostate(122;0.173)	298			DUF6 2.|Helical; (Potential).			Silent	SNP	ENST00000412468.2	37	c.894T>C	CCDS45603.1																																																																																				PASS	0.572	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		7	89	7	89	---	---	---	---
UBB	7314	broad.mit.edu	37	17	16285361	16285361	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr17:16285361G>T	ENST00000395837.1	+	2	321	c.140G>T	c.(139-141)gGc>gTc	p.G47V	UBB_ENST00000535788.1_Missense_Mutation_p.G47V|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Missense_Mutation_p.G47V|UBB_ENST00000395839.1_Missense_Mutation_p.G47V|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	47	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.G47V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ATCTTTGCAGGCAAGCAGCTG	0.547																																					Melanoma(163;1126 3406 34901)	uc002gpx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(139-141)GGC>GTC		ubiquitin B precursor							89.0	87.0	88.0					17																	16285361		2203	4300	6503	SO:0001583	missense	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285361G>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.140G>T	17.37:g.16285361G>T	ENSP00000379178:p.Gly47Val					UBB_uc010vwe.1_Missense_Mutation_p.G47V	p.G47V	NM_018955	NP_061828	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	278	+			47			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	c.140G>T	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308795	0.60305	.	.	ENSG00000170315	ENST00000302182;ENST00000535788;ENST00000395839;ENST00000395837	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	4.05	4.05	0.47172	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.52532	U	0.000070	D	0.97977	0.9334	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99659	1.0993	10	0.87932	D	0	.	15.641	0.77001	0.0:0.0:1.0:0.0	.	47	P0CG47	UBB_HUMAN	V	47	ENSP00000304697:G47V;ENSP00000437475:G47V;ENSP00000379180:G47V;ENSP00000379178:G47V	ENSP00000304697:G47V	G	+	2	0	UBB	16226086	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.589000	0.90817	1.989000	0.58080	0.644000	0.83932	GGC		PASS	0.547	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		11	72	11	72	---	---	---	---
KRT18P55	284085	broad.mit.edu	37	17	26603835	26603835	+	RNA	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr17:26603835C>T	ENST00000577198.1	-	0	1126				AC061975.8_ENST00000385109.1_RNA	NR_028334.1				keratin 18 pseudogene 55																		ATGTCACTCTCCACAGACTGG	0.517																																						uc002has.3																			0					0						c.(640-642)GAG>AAG		SubName: Full=Putative uncharacterized protein FLJ40504; SubName: Full=cDNA FLJ40504 fis, clone TESTI2045509, highly similar to KERATIN, TYPE I CYTOSKELETAL 18;							42.0	42.0	42.0					17																	26603835		2201	4300	6501			284085							g.chr17:26603835C>T			17q11.2	2013-06-25			ENSG00000265480	ENSG00000265480			26874	pseudogene	pseudogene							Standard	NR_028334		Approved		uc002has.3		OTTHUMG00000179422		17.37:g.26603835C>T							p.E214K	NM_173624	NP_775895				UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	3	736	-	all_lung(13;0.000238)|Lung NSC(42;0.000789)								Missense_Mutation	SNP	ENST00000577198.1	37	c.640G>A																																																																																					PASS	0.517	KRT18P55-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446194.1	NR_028334		12	29	12	29	---	---	---	---
COASY	80347	broad.mit.edu	37	17	40717709	40717709	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr17:40717709C>T	ENST00000393818.2	+	8	1974	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	MLX_ENST00000246912.4_5'Flank|COASY_ENST00000590958.1_Silent_p.L535L|COASY_ENST00000420359.1_Silent_p.L506L|COASY_ENST00000449624.1_Silent_p.L211L|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000421097.2_Silent_p.L506L|MLX_ENST00000435881.2_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	506	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.L506L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GGGATGGCCTCAGTGAAGCCG	0.577																																						uc002hzz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1516-1518)CTC>CTT		coenzyme A synthase isoform a							50.0	50.0	50.0					17																	40717709		2203	4300	6503	SO:0001819	synonymous_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40717709C>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1518C>T	17.37:g.40717709C>T						COASY_uc010cyj.2_Silent_p.L535L|COASY_uc002iab.2_Silent_p.L211L|COASY_uc002iad.2_Silent_p.L506L|COASY_uc002iac.2_Silent_p.L506L|COASY_uc002iae.2_Silent_p.L301L|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	p.L506L	NM_001042529	NP_001035994	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	9	1675	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	506			DPCK.		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	c.1518C>T	CCDS11429.1																																																																																				PASS	0.577	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		4	29	4	29	---	---	---	---
PPP1R9B	84687	broad.mit.edu	37	17	48212999	48212999	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr17:48212999C>T	ENST00000316878.6	-	11	2315	c.2313G>A	c.(2311-2313)ctG>ctA	p.L771L	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	771	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)	p.L770L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TCTCCTTTTTCAGGAACTCGA	0.602																																						uc002iqh.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2317-2319)CTG>CTA		protein phosphatase 1, regulatory subunit 9B							39.0	40.0	39.0					17																	48212999		2030	4161	6191	SO:0001819	synonymous_variant	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48212999C>T	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.2313G>A	17.37:g.48212999C>T							p.L773L	NM_032595	NP_115984	Q96SB3	NEB2_HUMAN			11	2322	-			771			Potential.|Interacts with TGN38 (By similarity).		Q8TCR9	Silent	SNP	ENST00000316878.6	37	c.2319G>A																																																																																					PASS	0.602	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		4	12	4	12	---	---	---	---
RSAD1	55316	broad.mit.edu	37	17	48559474	48559474	+	Missense_Mutation	SNP	G	G	A	rs138384713		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr17:48559474G>A	ENST00000258955.2	+	4	582	c.497G>A	c.(496-498)cGg>cAg	p.R166Q		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	166					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)	p.R166Q(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ACTGAGCTCCGGCTGTTGGGA	0.612											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		17670	0.0		0.0	False		,,,				2504	0.0					uc002iqw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)CGG>CAG		radical S-adenosyl methionine domain containing		G	GLN/ARG	3,4403		0,3,2200	92.0	101.0	98.0		497	-3.2	1.0	17	dbSNP_134	98	2,8590		0,2,4294	yes	missense	RSAD1	NM_018346.1	43	0,5,6494	AA,AG,GG		0.0233,0.0681,0.0385	benign	166/443	48559474	5,12993	2203	4296	6499	SO:0001583	missense	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48559474G>A	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.497G>A	17.37:g.48559474G>A	ENSP00000258955:p.Arg166Gln		OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955	RSAD1_uc010wmq.1_RNA	p.R166Q	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		4	553	+	Breast(11;1.93e-18)		166					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	ENST00000258955.2	37	c.497G>A	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799381	0.31869	6.81E-4	2.33E-4	ENSG00000136444	ENST00000258955	T	0.23950	1.88	5.07	-3.15	0.05233	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.551761	0.18926	N	0.127328	T	0.11024	0.0269	N	0.16166	0.38	0.24484	N	0.994337	B	0.11235	0.004	B	0.06405	0.002	T	0.28744	-1.0034	10	0.19147	T	0.46	-5.5099	8.9771	0.35941	0.3428:0.0:0.5444:0.1127	.	166	Q9HA92	RSAD1_HUMAN	Q	166	ENSP00000258955:R166Q	ENSP00000258955:R166Q	R	+	2	0	RSAD1	45914473	0.315000	0.24571	0.981000	0.43875	0.529000	0.34654	-0.119000	0.10676	-0.677000	0.05231	-0.140000	0.14226	CGG		PASS	0.612	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		27	83	27	83	---	---	---	---
CSNK1D	1453	broad.mit.edu	37	17	80211007	80211007	+	Missense_Mutation	SNP	G	G	T	rs201710093		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr17:80211007G>T	ENST00000314028.6	-	4	799	c.450C>A	c.(448-450)ttC>ttA	p.F150L	CSNK1D_ENST00000392334.2_Missense_Mutation_p.F150L|CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Missense_Mutation_p.F150L	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.F150L(3)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TGGCCAGCCCGAAGTCGATGA	0.552																																						uc002kej.2																			3	Substitution - Missense(3)		lung(3)	breast(2)	2						c.(448-450)TTC>TTA		casein kinase 1, delta isoform 1							324.0	243.0	271.0					17																	80211007		2203	4300	6503	SO:0001583	missense	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80211007G>T		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.450C>A	17.37:g.80211007G>T	ENSP00000324464:p.Phe150Leu					SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.F150L|CSNK1D_uc002kei.2_Missense_Mutation_p.F150L|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_Missense_Mutation_p.F15L|CSNK1D_uc010dim.1_5'Flank	p.F150L	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		4	766	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		150			Protein kinase.		A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	c.450C>A	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191477	0.38707	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000269361	D;D;T;T	0.81739	-1.53;-1.53;2.59;-0.05	5.55	-3.97	0.04094	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.80183	2.485	0.54753	D	0.999988	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.976;0.985;0.995	D	0.85874	0.1418	10	0.87932	D	0	.	12.6662	0.56844	0.5709:0.0:0.4291:0.0	.	150;150;93	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	L	150;150;93;42	ENSP00000324464:F150L;ENSP00000376146:F150L;ENSP00000381531:F93L;ENSP00000269361:F42L	ENSP00000269361:F42L	F	-	3	2	CSNK1D	77804296	0.906000	0.30813	0.960000	0.40013	0.887000	0.51463	0.205000	0.17356	-0.851000	0.04147	-1.110000	0.02074	TTC		PASS	0.552	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		4	88	4	88	---	---	---	---
TMEM200C	645369	broad.mit.edu	37	18	5891854	5891854	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr18:5891854G>A	ENST00000581347.2	-	3	854	c.209C>T	c.(208-210)gCg>gTg	p.A70V	RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.A70V|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	70						integral component of membrane (GO:0016021)		p.A70V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GCCCACCACCGCCATGGCTAT	0.662																																						uc002kmx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GCG>GTG		transmembrane protein 200C							54.0	60.0	58.0					18																	5891854		2147	4256	6403	SO:0001583	missense	645369					integral to membrane		g.chr18:5891854G>A		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.209C>T	18.37:g.5891854G>A	ENSP00000463375:p.Ala70Val						p.A70V	NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN			1	250	-			70			Helical; (Potential).			Missense_Mutation	SNP	ENST00000581347.2	37	c.209C>T	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513929	0.85389	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.97	4.09	0.47781	.	0.056303	0.64402	D	0.000001	T	0.78394	0.4276	M	0.75615	2.305	0.53688	D	0.999971	D	0.89917	1.0	D	0.80764	0.994	T	0.81908	-0.0717	9	0.87932	D	0	-15.2681	15.6135	0.76748	0.0:0.1382:0.8618:0.0	.	70	A6NKL6	T200C_HUMAN	V	70	.	ENSP00000372982:A70V	A	-	2	0	TMEM200C	5881854	1.000000	0.71417	0.950000	0.38849	0.904000	0.53231	9.428000	0.97476	1.204000	0.43247	-0.310000	0.09108	GCG		PASS	0.662	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		11	12	11	12	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7014032	7014032	+	Missense_Mutation	SNP	C	C	A	rs138476816	byFrequency	TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr18:7014032C>A	ENST00000389658.3	-	23	3238	c.3145G>T	c.(3145-3147)Gtg>Ttg	p.V1049L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1049	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.V1049L(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTCGACCCCACGAGACTGCAA	0.483																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3145-3147)GTG>TTG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						34.0	29.0	31.0					18																	7014032		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7014032C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3145G>T	18.37:g.7014032C>A	ENSP00000374309:p.Val1049Leu					LAMA1_uc010wzj.1_Missense_Mutation_p.V525L	p.V1049L	NM_005559	NP_005550	P25391	LAMA1_HUMAN			23	3239	-		Colorectal(10;0.172)	1049			Laminin EGF-like 12.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3145G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579494	0.28180	.	.	ENSG00000101680	ENST00000389658	T	0.61274	0.12	5.91	1.58	0.23477	EGF-like, laminin (3);	1.258880	0.05805	N	0.612985	T	0.41581	0.1165	L	0.27944	0.81	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.22487	-1.0215	10	0.20046	T	0.44	.	5.4372	0.16488	0.3002:0.4586:0.0:0.2412	.	1049	P25391	LAMA1_HUMAN	L	1049	ENSP00000374309:V1049L	ENSP00000374309:V1049L	V	-	1	0	LAMA1	7004032	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.014000	0.13333	0.389000	0.25086	0.643000	0.83706	GTG		PASS	0.483	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	14	5	14	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21494522	21494522	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr18:21494522A>T	ENST00000313654.9	+	57	7719	c.7478A>T	c.(7477-7479)cAg>cTg	p.Q2493L	LAMA3_ENST00000587184.1_Missense_Mutation_p.Q828L|LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2437L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q884L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2493	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.Q884L(1)|p.Q2493L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTGAAATTTCAGAGGTACAAG	0.458																																						uc002kuq.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(7477-7479)CAG>CTG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						65.0	61.0	63.0					18																	21494522		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21494522A>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7478A>T	18.37:g.21494522A>T	ENSP00000324532:p.Gln2493Leu					LAMA3_uc002kur.2_Missense_Mutation_p.Q2437L|LAMA3_uc002kus.3_Missense_Mutation_p.Q884L|LAMA3_uc002kut.3_Missense_Mutation_p.Q828L	p.Q2493L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			57	7564	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2493			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.7478A>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.612620	0.66672	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.75367	-0.93;-0.93;-0.93	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.84547	0.5496	M	0.68317	2.08	0.40199	D	0.977495	D;D;D;D	0.69078	0.997;0.997;0.973;0.993	D;D;P;D	0.83275	0.994;0.996;0.785;0.915	D	0.86157	0.1591	9	0.54805	T	0.06	.	15.1529	0.72717	1.0:0.0:0.0:0.0	.	828;884;2437;2493	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	L	2493;2437;884	ENSP00000324532:Q2493L;ENSP00000382432:Q2437L;ENSP00000269217:Q884L	ENSP00000269217:Q884L	Q	+	2	0	LAMA3	19748520	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.846000	0.62860	1.977000	0.57605	0.459000	0.35465	CAG		PASS	0.458	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		6	26	6	26	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21921529	21921529	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr18:21921529T>A	ENST00000319481.3	-	5	582	c.376A>T	c.(376-378)Atc>Ttc	p.I126F		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	126	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.I126F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATGCTTCTGATTTCTTCAGCA	0.343																																						uc002kve.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(376-378)ATC>TTC		oxysterol-binding protein-like 1A isoform B							139.0	116.0	124.0					18																	21921529		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21921529T>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.376A>T	18.37:g.21921529T>A	ENSP00000320291:p.Ile126Phe						p.I126F	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			5	550	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		126					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.376A>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095751	0.36952	.	.	ENSG00000141447	ENST00000319481	T	0.52526	0.66	4.39	4.39	0.52855	Ankyrin repeat-containing domain (3);	4.093410	0.03639	U	0.239216	T	0.49440	0.1557	L	0.59436	1.845	0.80722	D	1	P	0.49961	0.93	B	0.39068	0.289	T	0.53878	-0.8376	10	0.87932	D	0	-17.9348	12.2429	0.54553	0.0:0.0:0.0:1.0	.	126	Q9BXW6	OSBL1_HUMAN	F	126	ENSP00000320291:I126F	ENSP00000320291:I126F	I	-	1	0	OSBPL1A	20175527	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	4.284000	0.58983	1.981000	0.57761	0.528000	0.53228	ATC		PASS	0.343	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		6	43	6	43	---	---	---	---
MEX3C	51320	broad.mit.edu	37	18	48703809	48703809	+	5'UTR	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr18:48703809C>T	ENST00000591040.1	-	0	180							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E298K(1)|p.E103K(1)		endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GAGAAGTGCTCTGCAGCTGAG	0.483																																						uc002lfc.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(892-894)GAG>AAG		ring finger and KH domain containing 2							105.0	88.0	94.0					18																	48703809		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51320					cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr18:48703809C>T	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-619G>A	18.37:g.48703809C>T							p.E298K	NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)	2	892	-		Colorectal(6;0.003)|all_epithelial(6;0.0473)	298					A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	37	c.892G>A		.	.	.	.	.	.	.	.	.	.	C	27.1	4.796226	0.90453	.	.	ENSG00000176624	ENST00000406189	T	0.39229	1.09	5.84	5.84	0.93424	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.69978	-0.4998	10	0.62326	D	0.03	-10.1626	18.91	0.92479	0.0:1.0:0.0:0.0	.	298	Q5U5Q3	MEX3C_HUMAN	K	298	ENSP00000385610:E298K	ENSP00000385610:E298K	E	-	1	0	MEX3C	46957807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.784000	0.68990	2.767000	0.95098	0.561000	0.74099	GAG		PASS	0.483	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		4	45	4	45	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56202164	56202164	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr18:56202164G>C	ENST00000361673.3	-	5	5468	c.5255C>G	c.(5254-5256)tCa>tGa	p.S1752*	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1752						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S1752*(1)|p.S1113*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAGAAAGGCTGAGTTCTTTCT	0.413																																						uc002lhj.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(5254-5256)TCA>TGA		heart alpha-kinase							178.0	169.0	172.0					18																	56202164		2203	4300	6503	SO:0001587	stop_gained	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202164G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5255C>G	18.37:g.56202164G>C	ENSP00000354991:p.Ser1752*					ALPK2_uc002lhk.1_Nonsense_Mutation_p.S1083*	p.S1752*	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	5469	-			1752					Q6ZUX0|Q8NAT5|Q96L95	Nonsense_Mutation	SNP	ENST00000361673.3	37	c.5255C>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	42	9.217566	0.99103	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.4	-0.679	0.11350	.	1.204470	0.05934	N	0.635738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	0.0876	5.1631	0.15071	0.3007:0.255:0.4443:0.0	.	.	.	.	X	1752	.	ENSP00000354991:S1752X	S	-	2	0	ALPK2	54353144	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	1.245000	0.32790	-0.217000	0.10033	-0.224000	0.12420	TCA		PASS	0.413	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		6	47	6	47	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76754570	76754570	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr18:76754570C>G	ENST00000537592.2	+	2	2579	c.2579C>G	c.(2578-2580)aCc>aGc	p.T860S	SALL3_ENST00000575389.2_Missense_Mutation_p.T860S|SALL3_ENST00000536229.3_Missense_Mutation_p.T727S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	860					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.T860S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCAGCTGACCGGCCTCAAG	0.682																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2578-2580)ACC>AGC		sal-like 3							42.0	43.0	43.0					18																	76754570		2201	4294	6495	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754570C>G	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2579C>G	18.37:g.76754570C>G	ENSP00000441823:p.Thr860Ser					SALL3_uc010dra.2_Missense_Mutation_p.T467S	p.T860S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2579	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	860					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2579C>G	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	0.231	-1.021286	0.02061	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08370	3.1	5.49	3.69	0.42338	.	0.575405	0.16085	N	0.230327	T	0.03434	0.0099	N	0.02802	-0.49	0.09310	N	1	B;B	0.15141	0.012;0.003	B;B	0.15052	0.012;0.001	T	0.46048	-0.9219	10	0.14656	T	0.56	-14.5766	9.6817	0.40074	0.0:0.6604:0.2698:0.0698	.	592;860	F5GXY4;Q9BXA9	.;SALL3_HUMAN	S	860;860;592	ENSP00000441823:T860S	ENSP00000299466:T860S	T	+	2	0	SALL3	74855558	0.202000	0.23423	0.001000	0.08648	0.061000	0.15899	1.888000	0.39708	0.675000	0.31264	-0.304000	0.09214	ACC		PASS	0.682	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		9	17	9	17	---	---	---	---
ELAVL1	1994	broad.mit.edu	37	19	8032655	8032655	+	Silent	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:8032655C>A	ENST00000407627.2	-	5	579	c.450G>T	c.(448-450)gcG>gcT	p.A150A	ELAVL1_ENST00000596459.1_Silent_p.A150A|ELAVL1_ENST00000351593.5_Silent_p.A177A|ELAVL1_ENST00000593807.1_Intron	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	150	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.A150A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACCGGATAAACGCAACCCCTC	0.453																																						uc002mjb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)GCG>GCT		ELAV-like 1							99.0	84.0	89.0					19																	8032655		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8032655C>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.450G>T	19.37:g.8032655C>A							p.A150A	NM_001419	NP_001410	Q15717	ELAV1_HUMAN			5	617	-			150			RRM 2.		B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.450G>T	CCDS12193.1																																																																																				PASS	0.453	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		5	45	5	45	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8181625	8181625	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:8181625C>T	ENST00000600128.1	-	29	4059	c.3645G>A	c.(3643-3645)atG>atA	p.M1215I	FBN3_ENST00000601739.1_Missense_Mutation_p.M1215I|FBN3_ENST00000270509.2_Missense_Mutation_p.M1215I			Q75N90	FBN3_HUMAN	fibrillin 3	1215	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.M1215I(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						GACCCCCTGGCATGTTGGTGC	0.632																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(3643-3645)ATG>ATA		fibrillin 3 precursor							98.0	84.0	89.0					19																	8181625		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8181625C>T		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.3645G>A	19.37:g.8181625C>T	ENSP00000470498:p.Met1215Ile						p.M1215I	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			28	3666	-			1215			EGF-like 17.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3645G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.389211	0.00202	.	.	ENSG00000142449	ENST00000270509	D	0.91686	-2.89	3.98	0.375	0.16188	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.407546	0.24128	U	0.041295	T	0.70386	0.3218	N	0.02120	-0.675	0.23425	N	0.997707	B	0.02656	0.0	B	0.01281	0.0	T	0.63629	-0.6594	10	0.02654	T	1	.	4.5489	0.12098	0.13:0.3336:0.4438:0.0925	.	1215	Q75N90	FBN3_HUMAN	I	1215	ENSP00000270509:M1215I	ENSP00000270509:M1215I	M	-	3	0	FBN3	8087625	0.992000	0.36948	0.005000	0.12908	0.008000	0.06430	0.259000	0.18405	0.323000	0.23307	-0.558000	0.04189	ATG		PASS	0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		9	37	9	37	---	---	---	---
MARCH2	51257	broad.mit.edu	37	19	8491686	8491686	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:8491686G>A	ENST00000602117.1	+	3	825	c.370G>A	c.(370-372)Gag>Aag	p.E124K	MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Missense_Mutation_p.E124K|MARCH2_ENST00000215555.2_Missense_Mutation_p.E124K|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000393944.1_Missense_Mutation_p.E124K			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	124					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.E124K(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						ACCCCTCACAGAGGTACCCTT	0.592																																						uc002mjv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(370-372)GAG>AAG		membrane-associated ring finger (C3HC4) 2							42.0	31.0	35.0					19																	8491686		2203	4300	6503	SO:0001583	missense	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8491686G>A	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.370G>A	19.37:g.8491686G>A	ENSP00000471536:p.Glu124Lys					MARCH2_uc002mjw.2_Missense_Mutation_p.E124K|MARCH2_uc002mjx.2_Missense_Mutation_p.E124K	p.E124K	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN			4	811	+			124					A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	c.370G>A	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	g	17.67	3.446078	0.63178	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.19394	2.15;2.15;2.59	5.13	5.13	0.70059	.	0.127979	0.50627	D	0.000113	T	0.43500	0.1250	M	0.78637	2.42	0.51482	D	0.999924	D;B	0.60160	0.987;0.002	P;B	0.59056	0.851;0.003	T	0.27773	-1.0064	10	0.29301	T	0.29	-19.2357	17.2554	0.87055	0.0:0.0:1.0:0.0	.	124;124	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	K	124	ENSP00000377518:E124K;ENSP00000215555:E124K;ENSP00000370423:E124K	ENSP00000215555:E124K	E	+	1	0	MARCH2	8397686	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.406000	0.73276	2.423000	0.82170	0.562000	0.76482	GAG		PASS	0.592	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		6	18	6	18	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072126	9072126	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:9072126G>T	ENST00000397910.4	-	3	15523	c.15320C>A	c.(15319-15321)aCt>aAt	p.T5107N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5109	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.T5107N(2)|p.T740N(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						GTCTTTAGAAGTGGCCAGTAT	0.423																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15319-15321)ACT>AAT		mucin 16							149.0	136.0	140.0					19																	9072126		1913	4135	6048	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072126G>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.15320C>A	19.37:g.9072126G>T	ENSP00000381008:p.Thr5107Asn						p.T5107N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15524	-			5109			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15320C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.128	-0.399746	0.04865	.	.	ENSG00000181143	ENST00000397910	T	0.26660	1.72	1.71	-0.994	0.10225	.	.	.	.	.	T	0.18593	0.0446	L	0.58101	1.795	.	.	.	P	0.44344	0.833	B	0.35182	0.197	T	0.20874	-1.0262	8	0.87932	D	0	.	3.9862	0.09517	0.0:0.2603:0.475:0.2647	.	5107	B5ME49	.	N	5107	ENSP00000381008:T5107N	ENSP00000381008:T5107N	T	-	2	0	MUC16	8933126	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	-0.509000	0.06336	-0.104000	0.12154	0.109000	0.15622	ACT		PASS	0.423	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	86	11	86	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9087486	9087486	+	Silent	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:9087486C>A	ENST00000397910.4	-	1	4532	c.4329G>T	c.(4327-4329)ctG>ctT	p.L1443L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1443	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.L1443L(2)		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						GAGCAAGGACCAGGGGTTCCC	0.512																																						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.(4327-4329)CTG>CTT		mucin 16							110.0	108.0	108.0					19																	9087486		1954	4140	6094	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087486C>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.4329G>T	19.37:g.9087486C>A							p.L1443L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4533	-			1443			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.4329G>T	CCDS54212.1																																																																																				PASS	0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	96	5	96	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9088466	9088466	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:9088466C>G	ENST00000397910.4	-	1	3552	c.3349G>C	c.(3349-3351)Gaa>Caa	p.E1117Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1117	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.E1117Q(2)		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						ATTGTAATTTCTCTGGATGTT	0.468																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3349-3351)GAA>CAA		mucin 16							105.0	101.0	102.0					19																	9088466		2024	4203	6227	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088466C>G	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.3349G>C	19.37:g.9088466C>G	ENSP00000381008:p.Glu1117Gln						p.E1117Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3553	-			1117			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3349G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.728	-0.265130	0.05754	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.22	1.22	0.21188	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.37451	0.25	T	0.46679	-0.9174	8	0.87932	D	0	.	5.8183	0.18514	0.0:1.0:0.0:0.0	.	1117	B5ME49	.	Q	1117	ENSP00000381008:E1117Q	ENSP00000381008:E1117Q	E	-	1	0	MUC16	8949466	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.063000	0.14410	0.990000	0.38787	0.305000	0.20034	GAA		PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	70	5	70	---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9453519	9453519	+	Silent	SNP	A	A	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:9453519A>C	ENST00000393883.2	+	6	2040	c.1392A>C	c.(1390-1392)ccA>ccC	p.P464P	ZNF559_ENST00000587557.1_Silent_p.P528P|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Silent_p.P384P|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Silent_p.P464P|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	464					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.P464P(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GGGAGAGGCCATATAAATGTC	0.443																																						uc002mlg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1390-1392)CCA>CCC		zinc finger protein 559							72.0	65.0	67.0					19																	9453519		2203	4300	6503	SO:0001819	synonymous_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453519A>C	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1392A>C	19.37:g.9453519A>C						ZNF559_uc002mlf.2_Silent_p.P233P|ZNF559_uc010dwl.1_Silent_p.P233P|ZNF559_uc010xkn.1_Silent_p.P456P|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.P528P|ZNF559_uc010dwk.1_Silent_p.P233P|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.P464P	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	2039	+			464					K7EMG6	Silent	SNP	ENST00000393883.2	37	c.1392A>C	CCDS12211.1																																																																																				PASS	0.443	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		11	32	11	32	---	---	---	---
FBXW9	84261	broad.mit.edu	37	19	12807343	12807343	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:12807343G>C	ENST00000380339.3	-	1	89	c.53C>G	c.(52-54)tCg>tGg	p.S18W	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000393261.3_Missense_Mutation_p.S18W|FBXW9_ENST00000587955.1_Missense_Mutation_p.S18W			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	18					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.S18W(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CTCTGGGTCCGAGTCATCGTC	0.677																																						uc010dyx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(52-54)TCG>TGG		F-box and WD-40 domain protein 9							34.0	38.0	36.0					19																	12807343		2026	4121	6147	SO:0001583	missense	84261						protein binding	g.chr19:12807343G>C	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.53C>G	19.37:g.12807343G>C	ENSP00000369696:p.Ser18Trp					FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.S18W|FBXW9_uc002mun.1_5'UTR	p.S18W	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			1	53	-			18					B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37	c.53C>G		.	.	.	.	.	.	.	.	.	.	G	15.31	2.794994	0.50208	.	.	ENSG00000132004	ENST00000393261;ENST00000380339	T;T	0.57752	1.45;0.38	4.79	3.73	0.42828	.	0.559325	0.13891	N	0.355611	T	0.60379	0.2264	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.60037	-0.7341	10	0.72032	D	0.01	-7.2453	11.7805	0.52010	0.0:0.0:0.8232:0.1768	.	18;18	Q5XUX1-2;Q5XUX1-3	.;.	W	18	ENSP00000376945:S18W;ENSP00000369696:S18W	ENSP00000369696:S18W	S	-	2	0	FBXW9	12668343	0.999000	0.42202	0.677000	0.29947	0.117000	0.20001	3.025000	0.49681	1.109000	0.41680	0.462000	0.41574	TCG		PASS	0.677	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		3	38	3	38	---	---	---	---
KCNN1	3780	broad.mit.edu	37	19	18092701	18092701	+	Missense_Mutation	SNP	G	G	T	rs371671009		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:18092701G>T	ENST00000222249.9	+	5	1001	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	228					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.V245L(2)		endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CGACGTGGACGTGCTGCTGTC	0.672																																						uc002nht.2																			2	Substitution - Missense(2)		lung(2)		0						c.(682-684)GTG>TTG		potassium intermediate/small conductance		G	LEU/VAL	0,4406		0,0,2203	38.0	40.0	39.0		682	2.6	1.0	19		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNN1	NM_002248.3	32	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	228/544	18092701	1,13005	2203	4300	6503	SO:0001583	missense	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18092701G>T	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.682G>T	19.37:g.18092701G>T	ENSP00000476519:p.Val228Leu					KCNN1_uc010xqa.1_Missense_Mutation_p.V228L	p.V228L	NM_002248	NP_002239	Q92952	KCNN1_HUMAN			5	992	+			228			Helical; Name=Segment S4; (Potential).		Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37	c.682G>T		.	.	.	.	.	.	.	.	.	.	G	12.27	1.887144	0.33348	0.0	1.16E-4	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.7	2.58	0.30949	.	0.143965	0.45361	D	0.000373	T	0.42720	0.1215	L	0.41573	1.285	0.40576	D	0.981342	B	0.14805	0.011	B	0.18263	0.021	T	0.30822	-0.9965	9	0.36615	T	0.2	-21.2854	5.5768	0.17228	0.321:0.0:0.679:0.0	.	228	Q92952	KCNN1_HUMAN	L	245;228	.	ENSP00000222249:V245L	V	+	1	0	KCNN1	17953701	1.000000	0.71417	0.999000	0.59377	0.793000	0.44817	5.940000	0.70187	0.977000	0.38444	0.561000	0.74099	GTG		PASS	0.672	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		4	15	4	15	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31038893	31038893	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:31038893G>A	ENST00000355537.3	+	4	2514	c.2367G>A	c.(2365-2367)acG>acA	p.T789T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	789					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.T789T(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGCCGGCACGCAGTCAGCAT	0.507																																						uc002nsu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2365-2367)ACG>ACA		zinc finger protein 536							66.0	70.0	69.0					19																	31038893		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31038893G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2367G>A	19.37:g.31038893G>A						ZNF536_uc010edd.1_Silent_p.T789T	p.T789T	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2505	+	Esophageal squamous(110;0.0834)		789			C2H2-type 9.		A2RU18	Silent	SNP	ENST00000355537.3	37	c.2367G>A	CCDS32984.1																																																																																				PASS	0.507	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	58	6	58	---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32971362	32971362	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:32971362T>A	ENST00000342179.5	+	18	2103	c.1888T>A	c.(1888-1890)Ttc>Atc	p.F630I	DPY19L3_ENST00000586987.1_Missense_Mutation_p.F630I|DPY19L3_ENST00000392250.2_Missense_Mutation_p.F630I	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	630						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.F630I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CCTAAGGTCCTTCGGCACTGA	0.532																																						uc002ntg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1888-1890)TTC>ATC		dpy-19-like 3							70.0	65.0	67.0					19																	32971362		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32971362T>A		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1888T>A	19.37:g.32971362T>A	ENSP00000344937:p.Phe630Ile					DPY19L3_uc002nth.1_Missense_Mutation_p.F630I|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.F52I	p.F630I	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			18	2064	+	Esophageal squamous(110;0.162)		630					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.1888T>A	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.528824	0.44969	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.54479	0.57;0.57	5.43	4.41	0.53225	.	0.187540	0.47852	D	0.000207	T	0.48696	0.1514	L	0.57536	1.79	0.35391	D	0.790757	B	0.13145	0.007	B	0.14578	0.011	T	0.55667	-0.8105	10	0.59425	D	0.04	-18.3108	11.059	0.47936	0.0:0.073:0.0:0.927	.	630	Q6ZPD9	D19L3_HUMAN	I	630	ENSP00000376081:F630I;ENSP00000344937:F630I	ENSP00000344937:F630I	F	+	1	0	DPY19L3	37663202	0.993000	0.37304	0.962000	0.40283	0.632000	0.37999	2.092000	0.41700	0.899000	0.36444	0.460000	0.39030	TTC		PASS	0.532	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		8	19	8	19	---	---	---	---
TMEM147	10430	broad.mit.edu	37	19	36037609	36037609	+	Silent	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:36037609G>C	ENST00000222284.5	+	4	388	c.243G>C	c.(241-243)ctG>ctC	p.L81L	TMEM147_ENST00000392205.1_Silent_p.L81L|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA|TMEM147_ENST00000392204.2_Silent_p.L32L	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	81						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L81L(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGCAGACCTGATAGGTCTAA	0.562																																						uc002oaj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)CTG>CTC		transmembrane protein 147							116.0	103.0	107.0					19																	36037609		2203	4300	6503	SO:0001819	synonymous_variant	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037609G>C	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.243G>C	19.37:g.36037609G>C						uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Silent_p.L32L|TMEM147_uc002oak.1_5'UTR	p.L81L	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	340	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		81					A8MWW0|O75790	Silent	SNP	ENST00000222284.5	37	c.243G>C	CCDS12466.1																																																																																				PASS	0.562	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		12	44	12	44	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36210823	36210823	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:36210823G>T	ENST00000222270.7	+	3	574	c.574G>T	c.(574-576)Gca>Tca	p.A192S	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.A192S|KMT2B_ENST00000341701.1_Missense_Mutation_p.A192S	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	192					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A192S(1)									GATGGTGCAGGCACTGACTGA	0.701																																						uc010eei.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(574-576)GCA>TCA		myeloid/lymphoid or mixed-lineage leukemia 4							38.0	47.0	44.0					19																	36210823		2003	4147	6150	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36210823G>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.574G>T	19.37:g.36210823G>T	ENSP00000222270:p.Ala192Ser						p.A192S	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	574	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		192					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.574G>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025799	0.75390	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.85773	-2.03;-2.03;0.53	5.59	5.59	0.84812	.	0.176114	0.27236	N	0.020300	T	0.71443	0.3340	N	0.08118	0	0.30957	N	0.724076	P	0.41673	0.759	B	0.37047	0.24	T	0.74876	-0.3515	10	0.39692	T	0.17	.	15.0853	0.72148	0.0:0.0:1.0:0.0	.	192	Q9UMN6	MLL4_HUMAN	S	192	ENSP00000222270:A192S;ENSP00000398837:A192S;ENSP00000345761:A192S	ENSP00000222270:A192S	A	+	1	0	AD000671.1	40902663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.859000	0.62954	2.632000	0.89209	0.561000	0.74099	GCA		PASS	0.701	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		4	33	4	33	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40363021	40363021	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:40363021C>A	ENST00000221347.6	-	32	15056	c.15049G>T	c.(15049-15051)Gcg>Tcg	p.A5017S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5017	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.		A -> V (in dbSNP:rs741143). {ECO:0000269|PubMed:9182547}.			extracellular vesicular exosome (GO:0070062)		p.A5017S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAGCCGGGCGCCCGCCATGCA	0.647																																						uc002omp.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(15049-15051)GCG>TCG		Fc fragment of IgG binding protein precursor							16.0	19.0	18.0					19																	40363021		2203	4299	6502	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40363021C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15049G>T	19.37:g.40363021C>A	ENSP00000221347:p.Ala5017Ser						p.A5017S	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15057	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5017			VWFD 12.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15049G>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990529	0.35131	.	.	ENSG00000090920	ENST00000221347	T	0.19394	2.15	4.9	3.86	0.44501	von Willebrand factor, type D domain (1);	0.202030	0.29638	U	0.011593	T	0.29061	0.0722	L	0.53671	1.685	0.09310	N	1	P	0.47910	0.902	P	0.51516	0.672	T	0.05131	-1.0904	10	0.41790	T	0.15	.	10.3731	0.44066	0.0:0.907:0.0:0.093	.	5017	Q9Y6R7	FCGBP_HUMAN	S	5017	ENSP00000221347:A5017S	ENSP00000221347:A5017S	A	-	1	0	FCGBP	45054861	0.000000	0.05858	0.046000	0.18839	0.485000	0.33311	0.603000	0.24149	1.290000	0.44636	0.313000	0.20887	GCG		PASS	0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	6	6	6	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43585368	43585368	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:43585368G>A	ENST00000406487.1	-	2	193	c.95C>T	c.(94-96)aCc>aTc	p.T32I	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	32					cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.T32I(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTGGGCAGTGGTGGGCAGGTT	0.493																																						uc002ovi.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(94-96)ACC>ATC		SubName: Full=Putative uncharacterized protein PSG6;							167.0	165.0	166.0					19																	43585368		2202	4298	6500	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43585368G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.95C>T	19.37:g.43585368G>A	ENSP00000385706:p.Thr32Ile					PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.T32I|PSG2_uc002ovq.3_Missense_Mutation_p.T32I|PSG2_uc010eiq.1_Missense_Mutation_p.T32I|PSG2_uc002ovs.3_Missense_Mutation_p.T32I|PSG2_uc002ovt.3_Missense_Mutation_p.T32I	p.T32I			Q00889	PSG6_HUMAN			2	188	-		Prostate(69;0.00899)	32					Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.95C>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	2.850	-0.238542	0.05944	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.35789	1.29	0.569	-1.14	0.09741	.	.	.	.	.	T	0.38639	0.1048	M	0.76328	2.33	0.09310	N	1	B;B	0.25563	0.102;0.129	B;B	0.37387	0.181;0.248	T	0.50931	-0.8769	8	0.62326	D	0.03	.	.	.	.	.	32;32	B5MCM8;P11465	.;PSG2_HUMAN	I	32	ENSP00000385706:T32I	ENSP00000332984:T32I	T	-	2	0	PSG2	48277208	0.056000	0.20664	0.001000	0.08648	0.003000	0.03518	-0.458000	0.06737	-1.138000	0.02884	-1.207000	0.01640	ACC		PASS	0.493	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		13	111	13	111	---	---	---	---
SIGLEC6	946	broad.mit.edu	37	19	52034461	52034461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:52034461C>T	ENST00000425629.3	-	2	534	c.380G>A	c.(379-381)tGg>tAg	p.W127*	SIGLEC6_ENST00000359982.4_Nonsense_Mutation_p.W127*|SIGLEC6_ENST00000343300.4_Nonsense_Mutation_p.W127*|SIGLEC6_ENST00000346477.3_Nonsense_Mutation_p.W127*|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.W91*|SIGLEC6_ENST00000391797.3_Nonsense_Mutation_p.W127*|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	127					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.W116*(1)|p.W127*(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTATTTCATCCATTTGGACTT	0.537																																						uc002pwy.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(379-381)TGG>TAG		sialic acid binding Ig-like lectin 6 isoform 1							100.0	104.0	103.0					19																	52034461		2158	4268	6426	SO:0001587	stop_gained	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034461C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.380G>A	19.37:g.52034461C>T	ENSP00000401502:p.Trp127*					SIGLEC6_uc002pwz.2_Nonsense_Mutation_p.W127*|SIGLEC6_uc002pxa.2_Nonsense_Mutation_p.W127*|SIGLEC6_uc010ydb.1_Nonsense_Mutation_p.W80*|SIGLEC6_uc010ydc.1_Nonsense_Mutation_p.W116*|SIGLEC6_uc010eoz.1_Nonsense_Mutation_p.W116*|SIGLEC6_uc010epb.1_Nonsense_Mutation_p.W80*|SIGLEC6_uc010epa.1_Nonsense_Mutation_p.W116*	p.W127*	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	542	-		all_neural(266;0.0199)	127			Extracellular (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Nonsense_Mutation	SNP	ENST00000425629.3	37	c.380G>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388131	0.42308	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	.	.	.	2.8	-5.6	0.02497	.	4.740070	0.00718	U	0.000877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	0.3619	0.00366	0.388:0.2224:0.1502:0.2394	.	.	.	.	X	116;127;127;127;91;127;127	.	ENSP00000345907:W127X	W	-	2	0	SIGLEC6	56726273	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.085000	0.00611	-1.083000	0.03097	0.313000	0.20887	TGG		PASS	0.537	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		14	74	14	74	---	---	---	---
ZNF761	388561	broad.mit.edu	37	19	53959080	53959080	+	RNA	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:53959080G>C	ENST00000454407.1	+	0	1772							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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.C386S(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCTTACAAGTGTAATGAGTGT	0.378																																						uc010eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1318-1320)TGT>TCT		zinc finger protein 761							107.0	113.0	111.0					19																	53959080		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959080G>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959080G>C						ZNF761_uc010ydy.1_Missense_Mutation_p.C386S|ZNF761_uc002qbt.1_Missense_Mutation_p.C386S	p.C440S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1777	+			440			C2H2-type 9.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1319G>C																																																																																					PASS	0.378	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		23	87	23	87	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53994939	53994939	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:53994939C>G	ENST00000396403.4	+	4	1581	c.1453C>G	c.(1453-1455)Cat>Gat	p.H485D	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	485					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.H485D(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CCTCGTAATTCATACGGCAAT	0.398																																						uc002qbu.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1453-1455)CAT>GAT		zinc finger protein 813							62.0	64.0	63.0					19																	53994939		2199	4297	6496	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994939C>G	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1453C>G	19.37:g.53994939C>G	ENSP00000379684:p.His485Asp					ZNF813_uc010eqq.1_Intron	p.H485D	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1581	+			485			C2H2-type 10.			Missense_Mutation	SNP	ENST00000396403.4	37	c.1453C>G	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	c	11.75	1.730511	0.30684	.	.	ENSG00000198346	ENST00000396403	D	0.86769	-2.17	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93549	0.7941	M	0.91249	3.19	0.28127	N	0.930367	D	0.71674	0.998	D	0.78314	0.991	D	0.85931	0.1452	9	0.87932	D	0	.	8.7303	0.34494	0.0:1.0:0.0:0.0	.	485	Q6ZN06	ZN813_HUMAN	D	485	ENSP00000379684:H485D	ENSP00000379684:H485D	H	+	1	0	ZNF813	58686751	0.998000	0.40836	0.003000	0.11579	0.003000	0.03518	5.842000	0.69417	0.194000	0.20326	0.197000	0.17608	CAT		PASS	0.398	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		7	41	7	41	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54657541	54657541	+	Missense_Mutation	SNP	C	C	G	rs376265364		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:54657541C>G	ENST00000406403.1	+	16	3730	c.2127C>G	c.(2125-2127)caC>caG	p.H709Q	CNOT3_ENST00000221232.5_Missense_Mutation_p.H709Q|CNOT3_ENST00000496327.1_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	709	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.H709Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCAGAGGCACGAGGAGCCCA	0.602																																						uc002qdj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2125-2127)CAC>CAG		CCR4-NOT transcription complex, subunit 3							173.0	146.0	155.0					19																	54657541		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54657541C>G	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2127C>G	19.37:g.54657541C>G	ENSP00000383954:p.His709Gln					CNOT3_uc010yel.1_3'UTR|CNOT3_uc002qdi.2_3'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.H709Q|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Missense_Mutation_p.H164Q	p.H709Q	NM_014516	NP_055331	O75175	CNOT3_HUMAN			17	2438	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		709					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.2127C>G	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.39|18.39	3.614171|3.614171	0.66672|0.66672	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126|ENST00000457463	T;T;T|.	0.40756|.	1.02;1.02;1.02|.	4.14|4.14	-2.17|-2.17	0.07059|0.07059	NOT2/NOT3/NOT5 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65770|0.65770	0.2723|0.2723	M|M	0.72624|0.72624	2.21|2.21	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.63906|0.63906	-0.6531|-0.6531	10|5	0.44086|.	T|.	0.13|.	-31.1546|-31.1546	9.3987|9.3987	0.38420|0.38420	0.0:0.6007:0.0:0.3993|0.0:0.6007:0.0:0.3993	.|.	709|.	O75175|.	CNOT3_HUMAN|.	Q|G	709;709;27|241	ENSP00000221232:H709Q;ENSP00000383954:H709Q;ENSP00000420064:H27Q|.	ENSP00000221232:H709Q|.	H|R	+|+	3|1	2|2	CNOT3|CNOT3	59349353|59349353	0.997000|0.997000	0.39634|0.39634	0.990000|0.990000	0.47175|0.47175	0.994000|0.994000	0.84299|0.84299	0.585000|0.585000	0.23879|0.23879	-0.331000|-0.331000	0.08501|0.08501	-0.278000|-0.278000	0.10074|0.10074	CAC|CGA		PASS	0.602	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		4	77	4	77	---	---	---	---
ZFP28	140612	broad.mit.edu	37	19	57065985	57065985	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:57065985C>T	ENST00000301318.3	+	8	1902	c.1831C>T	c.(1831-1833)Cat>Tat	p.H611Y	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	611					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.H611Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TTTAAGGATTCATACTGGGGA	0.428																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1831-1833)CAT>TAT		zinc finger protein 28							95.0	106.0	102.0					19																	57065985		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065985C>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1831C>T	19.37:g.57065985C>T	ENSP00000301318:p.His611Tyr					uc002qnk.1_Intron	p.H611Y	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1902	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	611			C2H2-type 7.		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.1831C>T	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771529	0.69992	.	.	ENSG00000196867	ENST00000301318	T	0.67523	-0.27	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	0.47455	D	0.000228	D	0.86527	0.5954	H	0.95260	3.645	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	D	0.90904	0.4771	10	0.87932	D	0	.	15.643	0.77020	0.0:1.0:0.0:0.0	.	611	Q8NHY6	ZFP28_HUMAN	Y	611	ENSP00000301318:H611Y	ENSP00000301318:H611Y	H	+	1	0	ZFP28	61757797	1.000000	0.71417	0.440000	0.26846	0.967000	0.64934	5.734000	0.68580	2.285000	0.76669	0.555000	0.69702	CAT		PASS	0.428	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		5	94	5	94	---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57293432	57293432	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:57293432C>G	ENST00000391708.3	-	10	1077	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	ZIM2_ENST00000221722.5_Missense_Mutation_p.E179Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.E179Q|ZIM2_ENST00000599935.1_Missense_Mutation_p.E179Q|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.E179Q|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	179	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E179Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGCACATCCTCGAAGGTCACC	0.498																																						uc002qnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(535-537)GAG>CAG		zinc finger, imprinted 2							174.0	152.0	159.0					19																	57293432		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57293432C>G	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.535G>C	19.37:g.57293432C>G	ENSP00000375589:p.Glu179Gln					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnq.2_Missense_Mutation_p.E179Q|ZIM2_uc010etp.2_Missense_Mutation_p.E179Q|ZIM2_uc010ygs.1_Missense_Mutation_p.E179Q	p.E179Q	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	9	917	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	179			KRAB.		Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.535G>C	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	5.451	0.268345	0.10349	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.02197	4.4;4.4	5.21	-10.4	0.00318	Krueppel-associated box (4);	.	.	.	.	T	0.02047	0.0064	N	0.26042	0.785	.	.	.	B	0.18013	0.025	B	0.22753	0.041	T	0.43766	-0.9371	8	0.45353	T	0.12	.	16.5244	0.84327	0.0:0.5825:0.3201:0.0975	.	179	Q9NZV7	ZIM2_HUMAN	Q	179	ENSP00000375589:E179Q;ENSP00000221722:E179Q	ENSP00000221722:E179Q	E	-	1	0	ZIM2	61985244	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.888000	0.01616	-3.865000	0.00097	-0.982000	0.02568	GAG		PASS	0.498	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			7	159	7	159	---	---	---	---
VN1R1	57191	broad.mit.edu	37	19	57967431	57967431	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr19:57967431G>T	ENST00000321039.3	-	1	423	c.424C>A	c.(424-426)Ctc>Atc	p.L142I	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	142					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L142I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AATCCATTGAGAAGGCAGATG	0.428																																						uc002qos.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(424-426)CTC>ATC		vomeronasal 1 receptor 1							98.0	91.0	93.0					19																	57967431		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967431G>T	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.424C>A	19.37:g.57967431G>T	ENSP00000322339:p.Leu142Ile					ZNF547_uc002qpm.3_Intron	p.L142I	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	424	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	142			Helical; Name=3; (Potential).		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.424C>A	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781512	0.49891	.	.	ENSG00000178201	ENST00000321039	T	0.33865	1.39	4.24	-0.439	0.12264	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61464	0.2349	M	0.92691	3.335	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48980	-0.8986	9	0.87932	D	0	.	4.5615	0.12163	0.2681:0.0:0.5775:0.1545	.	142	Q9GZP7	VN1R1_HUMAN	I	142	ENSP00000322339:L142I	ENSP00000322339:L142I	L	-	1	0	VN1R1	62659243	0.557000	0.26546	0.001000	0.08648	0.006000	0.05464	0.677000	0.25262	-0.045000	0.13468	-0.147000	0.13772	CTC		PASS	0.428	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		9	48	9	48	---	---	---	---
TMC2	117532	broad.mit.edu	37	20	2591070	2591070	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr20:2591070G>C	ENST00000358864.1	+	12	1434	c.1419G>C	c.(1417-1419)gaG>gaC	p.E473D	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	473					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.E473D(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTCAGGTAGAGATCGTGATGT	0.512																																						uc002wgf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1417-1419)GAG>GAC		transmembrane cochlear-expressed protein 2							317.0	263.0	281.0					20																	2591070		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2591070G>C	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1419G>C	20.37:g.2591070G>C	ENSP00000351732:p.Glu473Asp					TMC2_uc002wgg.1_Missense_Mutation_p.E457D|TMC2_uc010zpw.1_Missense_Mutation_p.E305D|TMC2_uc010zpx.1_Missense_Mutation_p.E304D	p.E473D	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			12	1434	+			473			Extracellular (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.1419G>C	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879511	0.51801	.	.	ENSG00000149488	ENST00000358864	T	0.50001	0.76	5.21	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	M	0.75447	2.3	0.48696	D	0.999691	P;D;D;D	0.71674	0.901;0.998;0.984;0.985	B;D;P;P	0.77557	0.265;0.99;0.729;0.77	T	0.63616	-0.6597	10	0.54805	T	0.06	-21.3846	9.8991	0.41338	0.24:0.0:0.76:0.0	.	304;305;473;473	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	D	473	ENSP00000351732:E473D	ENSP00000351732:E473D	E	+	3	2	TMC2	2539070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.740000	0.38228	0.575000	0.29434	0.650000	0.86243	GAG		PASS	0.512	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			4	101	4	101	---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58545157	58545157	+	Silent	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr20:58545157A>T	ENST00000244047.5	+	3	458	c.147A>T	c.(145-147)ctA>ctT	p.L49L	CDH26_ENST00000348616.4_Silent_p.L49L			Q8IXH8	CAD26_HUMAN	cadherin 26	49	Cadherin 1. {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.L49L(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACCAGCCTCTACGGCGATCCA	0.502																																						uc002ybe.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(145-147)CTA>CTT		cadherin-like 26 isoform a							122.0	112.0	115.0					20																	58545157		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58545157A>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.147A>T	20.37:g.58545157A>T						CDH26_uc010zzy.1_RNA	p.L49L	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		3	447	+	all_lung(29;0.00963)		49			Extracellular (Potential).|Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.147A>T																																																																																					PASS	0.502	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		22	60	22	60	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16337633	16337633	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr21:16337633T>C	ENST00000400202.1	-	3	3593	c.2881A>G	c.(2881-2883)Aaa>Gaa	p.K961E	NRIP1_ENST00000400199.1_Missense_Mutation_p.K961E|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.K961E			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	961	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K961E(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CCTTTCTTTTTACTGTCAGCC	0.418																																						uc002yjx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2881-2883)AAA>GAA		nuclear receptor interacting protein 1							85.0	82.0	83.0					21																	16337633		2203	4299	6502	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16337633T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2881A>G	21.37:g.16337633T>C	ENSP00000383063:p.Lys961Glu						p.K961E	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	3479	-			961					Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.2881A>G	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.309019	0.60414	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.08634	3.07;3.07;3.07	5.87	5.87	0.94306	.	0.456847	0.21611	N	0.071784	T	0.07413	0.0187	N	0.24115	0.695	0.38853	D	0.956312	P	0.42692	0.787	B	0.38428	0.273	T	0.46076	-0.9217	10	0.27785	T	0.31	-24.7062	16.5764	0.84681	0.0:0.0:0.0:1.0	.	961	P48552	NRIP1_HUMAN	E	961	ENSP00000383060:K961E;ENSP00000383063:K961E;ENSP00000327213:K961E	ENSP00000327213:K961E	K	-	1	0	NRIP1	15259504	1.000000	0.71417	0.972000	0.41901	0.928000	0.56348	4.346000	0.59367	2.371000	0.80710	0.533000	0.62120	AAA		PASS	0.418	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		12	43	12	43	---	---	---	---
KRTAP27-1	643812	broad.mit.edu	37	21	31709628	31709628	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr21:31709628C>G	ENST00000382835.2	-	1	384	c.359G>C	c.(358-360)aGc>aCc	p.S120T		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	120						intermediate filament (GO:0005882)		p.S120T(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CTGCTGAGTGCTTTCTGATTG	0.493																																						uc002ynx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(358-360)AGC>ACC		keratin associated protein 27-1							127.0	131.0	130.0					21																	31709628		2203	4300	6503	SO:0001583	missense	643812					intermediate filament		g.chr21:31709628C>G	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.359G>C	21.37:g.31709628C>G	ENSP00000372286:p.Ser120Thr						p.S120T	NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN			1	385	-			120						Missense_Mutation	SNP	ENST00000382835.2	37	c.359G>C	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235620	0.22626	.	.	ENSG00000206107	ENST00000382835	T	0.03607	3.87	4.44	-1.94	0.07571	.	1.348330	0.05000	N	0.468849	T	0.05640	0.0148	M	0.68952	2.095	0.09310	N	1	B	0.23937	0.094	B	0.25614	0.062	T	0.43956	-0.9359	10	0.36615	T	0.2	0.1171	5.0931	0.14720	0.0:0.3096:0.1625:0.528	.	120	Q3LI81	KR271_HUMAN	T	120	ENSP00000372286:S120T	ENSP00000372286:S120T	S	-	2	0	KRTAP27-1	30631499	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.477000	0.06583	-0.381000	0.07882	-0.195000	0.12781	AGC		PASS	0.493	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		9	129	9	129	---	---	---	---
KCNJ6	3763	broad.mit.edu	37	21	39086590	39086590	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr21:39086590C>A	ENST00000609713.1	-	3	1459	c.870G>T	c.(868-870)tgG>tgT	p.W290C	KCNJ6_ENST00000288309.6_Missense_Mutation_p.W290C|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	290					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)	p.W290C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TGGAGATCTCCCAGAAAGGAC	0.483																																					Pancreas(48;379 1118 2936 19024 28214)	uc011aej.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(868-870)TGG>TGT		potassium inwardly-rectifying channel J6	Halothane(DB01159)						112.0	118.0	116.0					21																	39086590		1951	4153	6104	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39086590C>A	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.870G>T	21.37:g.39086590C>A	ENSP00000477437:p.Trp290Cys					KCNJ6_uc002ywo.2_Missense_Mutation_p.W290C	p.W290C	NM_002240	NP_002231	P48051	IRK6_HUMAN			3	923	-			290			Cytoplasmic (By similarity).		Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.870G>T	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521752	0.64747	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.91631	-2.88;-2.88	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96033	0.9018	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	290	P48051	IRK6_HUMAN	C	290	ENSP00000383330:W290C;ENSP00000288309:W290C	ENSP00000288309:W290C	W	-	3	0	KCNJ6	38008460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.974000	0.70465	2.941000	0.99782	0.655000	0.94253	TGG		PASS	0.483	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		5	99	5	99	---	---	---	---
POFUT2	23275	broad.mit.edu	37	21	46702293	46702293	+	Silent	SNP	C	C	G			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr21:46702293C>G	ENST00000349485.5	-	4	635	c.609G>C	c.(607-609)gcG>gcC	p.A203A	POFUT2_ENST00000331343.7_Silent_p.A203A|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	203					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)	p.A203A(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GCAGCAGGGGCGCCACGATGG	0.632																																						uc002zhc.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(607-609)GCG>GCC		protein O-fucosyltransferase 2 isoform C							62.0	63.0	62.0					21																	46702293		2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46702293C>G	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.609G>C	21.37:g.46702293C>G						POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.A203A|POFUT2_uc011afp.1_Silent_p.A203A	p.A203A	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	4	634	-			203					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.609G>C	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	C	3.857	-0.030722	0.07543	.	.	ENSG00000186866	ENST00000451615	T	0.30182	1.54	4.57	-9.14	0.00701	.	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64132	-0.6479	7	0.52906	T	0.07	-11.2834	3.3672	0.07207	0.2614:0.4552:0.2045:0.079	.	.	.	.	P	126	ENSP00000407635:A126P	ENSP00000407635:A126P	A	-	1	0	POFUT2	45526721	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.560000	0.00061	-4.308000	0.00057	-2.708000	0.00134	GCC		PASS	0.632	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		8	17	8	17	---	---	---	---
SFI1	9814	broad.mit.edu	37	22	31927072	31927072	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr22:31927072T>C	ENST00000400288.2	+	4	400	c.295T>C	c.(295-297)Tgg>Cgg	p.W99R	SFI1_ENST00000432498.1_Missense_Mutation_p.W99R|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000414585.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	99					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.W99R(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTTATATTTATGGATTCGAAT	0.338																																						uc003ale.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(295-297)TGG>CGG		spindle assembly associated Sfi1 homolog isoform							120.0	111.0	114.0					22																	31927072		1829	4077	5906	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31927072T>C	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.295T>C	22.37:g.31927072T>C	ENSP00000383145:p.Trp99Arg					SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Missense_Mutation_p.W99R|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron	p.W99R	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			4	688	+			99					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.295T>C	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489085	0.64074	.	.	ENSG00000198089	ENST00000432498;ENST00000400288;ENST00000450787	T;T;T	0.70516	1.67;1.76;-0.49	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000001	T	0.67411	0.2890	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.72861	-0.4164	10	0.87932	D	0	.	9.9562	0.41668	0.0:0.0:0.0:1.0	.	99;99	A8K8P3-2;A8K8P3	.;SFI1_HUMAN	R	99;99;50	ENSP00000402679:W99R;ENSP00000383145:W99R;ENSP00000389364:W50R	ENSP00000383145:W99R	W	+	1	0	SFI1	30257072	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.362000	0.52314	1.926000	0.55796	0.363000	0.22086	TGG		PASS	0.338	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		15	35	15	35	---	---	---	---
SMC1B	27127	broad.mit.edu	37	22	45768156	45768156	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr22:45768156A>T	ENST00000357450.4	-	13	2074	c.2075T>A	c.(2074-2076)cTc>cAc	p.L692H	SMC1B_ENST00000404354.3_Missense_Mutation_p.L692H	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	692					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.L692H(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCTTTGCGGAGTGTCTTCAT	0.318																																						uc003bgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2074-2076)CTC>CAC		SMC1 structural maintenance of chromosomes							176.0	152.0	160.0					22																	45768156		1814	4074	5888	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45768156A>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2075T>A	22.37:g.45768156A>T	ENSP00000350036:p.Leu692His					SMC1B_uc003bgd.2_Missense_Mutation_p.L692H|SMC1B_uc003bge.1_Missense_Mutation_p.L475H	p.L692H	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	13	2127	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	692			Potential.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2075T>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.438167	0.43326	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.81415	-1.49;-1.36	5.39	1.91	0.25777	RecF/RecN/SMC (1);	0.855465	0.09883	N	0.743405	T	0.64046	0.2563	N	0.03154	-0.405	0.09310	N	1	B;P;B	0.40197	0.001;0.706;0.346	B;P;B	0.46110	0.003;0.504;0.382	T	0.56129	-0.8030	10	0.44086	T	0.13	.	5.0198	0.14356	0.3993:0.1522:0.0:0.4485	.	692;692;692	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	H	692	ENSP00000350036:L692H;ENSP00000385902:L692H	ENSP00000350036:L692H	L	-	2	0	SMC1B	44146820	0.920000	0.31207	0.475000	0.27278	0.992000	0.81027	1.451000	0.35145	0.847000	0.35167	0.533000	0.62120	CTC		PASS	0.318	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		6	17	6	17	---	---	---	---
BMX	660	broad.mit.edu	37	X	15565027	15565027	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:15565027C>T	ENST00000357607.2	+	17	1966	c.1778C>T	c.(1777-1779)tCa>tTa	p.S593L	BMX_ENST00000342014.6_Missense_Mutation_p.S593L|BMX_ENST00000348343.6_Missense_Mutation_p.S593L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	593	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.S593L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGCAGCAAGTCAGACGTATGG	0.448																																						uc004cww.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(1777-1779)TCA>TTA		BMX non-receptor tyrosine kinase							183.0	148.0	160.0					X																	15565027		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15565027C>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1778C>T	X.37:g.15565027C>T	ENSP00000350224:p.Ser593Leu					BMX_uc004cwx.3_Missense_Mutation_p.S593L|BMX_uc004cwy.3_Missense_Mutation_p.S593L	p.S593L	NM_203281	NP_975010	P51813	BMX_HUMAN			17	1966	+	Hepatocellular(33;0.183)		593			Protein kinase.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1778C>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789474	0.90367	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.89343	-2.5;-2.5;-2.5	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000075	D	0.95645	0.8584	M	0.90870	3.155	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.96614	0.9454	10	0.87932	D	0	.	16.5868	0.84729	0.0:1.0:0.0:0.0	.	593	P51813	BMX_HUMAN	L	593	ENSP00000350224:S593L;ENSP00000308774:S593L;ENSP00000340082:S593L	ENSP00000340082:S593L	S	+	2	0	BMX	15474948	1.000000	0.71417	0.941000	0.38009	0.964000	0.63967	7.575000	0.82447	2.225000	0.72522	0.529000	0.55759	TCA		PASS	0.448	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		10	45	10	45	---	---	---	---
ZFX	7543	broad.mit.edu	37	X	24197618	24197618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:24197618C>A	ENST00000379177.1	+	6	804	c.377C>A	c.(376-378)tCa>tAa	p.S126*	ZFX_ENST00000459724.1_Intron|ZFX_ENST00000304543.5_Nonsense_Mutation_p.S126*|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000379188.3_Nonsense_Mutation_p.S126*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.S126*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.S165*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	126					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.S126*(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ACTTCAGCCTCAATGTCTATG	0.428																																					Esophageal Squamous(20;306 562 7346 32868 37983)	uc004dbf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(376-378)TCA>TAA		zinc finger protein, X-linked							378.0	289.0	319.0					X																	24197618		2203	4300	6503	SO:0001587	stop_gained	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24197618C>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.377C>A	X.37:g.24197618C>A	ENSP00000368475:p.Ser126*					ZFX_uc004dbd.1_Nonsense_Mutation_p.S126*|ZFX_uc010nfx.1_Intron|ZFX_uc004dbe.2_Nonsense_Mutation_p.S126*|ZFX_uc011mjv.1_Nonsense_Mutation_p.S165*|ZFX_uc010nfy.1_Nonsense_Mutation_p.S126*	p.S126*	NM_003410	NP_003401	P17010	ZFX_HUMAN			4	635	+			126					B9EG97|O43668|Q8WYJ8	Nonsense_Mutation	SNP	ENST00000379177.1	37	c.377C>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675764	0.88445	.	.	ENSG00000005889	ENST00000428571;ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	.	.	.	5.97	5.11	0.69529	.	0.449065	0.20037	N	0.100586	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2873	11.9654	0.53031	0.0:0.9191:0.0:0.0809	.	.	.	.	X	126;126;126;126;126;165;126	.	ENSP00000304985:S126X	S	+	2	0	ZFX	24107539	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.489000	0.53237	2.527000	0.85204	0.600000	0.82982	TCA		PASS	0.428	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		15	88	15	88	---	---	---	---
FTSJ1	24140	broad.mit.edu	37	X	48340063	48340063	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:48340063C>T	ENST00000348411.2	+	9	938	c.615C>T	c.(613-615)ttC>ttT	p.F205F	FTSJ1_ENST00000456787.1_Silent_p.F205F|FTSJ1_ENST00000019019.2_Silent_p.F205F|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Silent_p.F68F	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)									p.F205F(1)		breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCGAGGGCTTCATCCCGGACC	0.622																																						uc004djo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(613-615)TTC>TTT		FtsJ homolog 1 isoform a							55.0	40.0	45.0					X																	48340063		2203	4300	6503	SO:0001819	synonymous_variant	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48340063C>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.615C>T	X.37:g.48340063C>T						FTSJ1_uc004djl.2_Silent_p.F205F|FTSJ1_uc004djm.2_Silent_p.F205F|FTSJ1_uc004djn.1_Silent_p.F205F|FTSJ1_uc004djp.1_Silent_p.F205F|FTSJ1_uc011mlw.1_Silent_p.F68F	p.F205F	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN			9	938	+			205						Silent	SNP	ENST00000348411.2	37	c.615C>T	CCDS14294.1																																																																																				PASS	0.622	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			6	4	6	4	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54957228	54957228	+	Silent	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:54957228C>T	ENST00000173898.7	+	12	4183	c.4071C>T	c.(4069-4071)ttC>ttT	p.F1357F	TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.F960F|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.F888F	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1357	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F1357F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCACGGGCTTCAGTAGTGGAC	0.567																																						uc004dtq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4069-4071)TTC>TTT		trophinin isoform 5							85.0	84.0	84.0					X																	54957228		2017	4162	6179	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957228C>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4071C>T	X.37:g.54957228C>T						TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.F888F|TRO_uc004dtw.2_Silent_p.F960F|TRO_uc004dtx.2_Silent_p.F740F	p.F1357F	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	4178	+			1357			55; approximate.|62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.4071C>T	CCDS43959.1																																																																																				PASS	0.567	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		18	24	18	24	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65417698	65417698	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:65417698G>A	ENST00000343002.2	+	9	2339	c.1675G>A	c.(1675-1677)Gtg>Atg	p.V559M	HEPH_ENST00000336279.5_Missense_Mutation_p.V292M|HEPH_ENST00000441993.2_Missense_Mutation_p.V562M|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.V562M|HEPH_ENST00000519389.1_Missense_Mutation_p.V613M			Q9BQS7	HEPH_HUMAN	hephaestin	559	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.V559M(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCGCTGCTGGTGTGCAGGGC	0.567																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(1684-1686)GTG>ATG		hephaestin isoform a							52.0	40.0	44.0					X																	65417698		2203	4298	6501	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65417698G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1675G>A	X.37:g.65417698G>A	ENSP00000343939:p.Val559Met					HEPH_uc004dwn.2_Missense_Mutation_p.V562M|HEPH_uc004dwo.2_Missense_Mutation_p.V292M|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.V562M	p.V562M	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			10	1744	+			559			Extracellular (Potential).|Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1684G>A		.	.	.	.	.	.	.	.	.	.	G	13.69	2.313796	0.40996	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99652	-6.3;-6.3;-6.3;-6.3;-6.3;-6.3	5.62	5.62	0.85841	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.067720	0.64402	D	0.000015	D	0.99597	0.9854	M	0.89030	3	0.37562	D	0.919098	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	D	0.98574	1.0647	10	0.87932	D	0	.	11.5705	0.50830	0.0879:0.0:0.9121:0.0	.	613;559	E9PHN8;Q9BQS7	.;HEPH_HUMAN	M	613;562;292;562;559;516	ENSP00000430620:V613M;ENSP00000363859:V562M;ENSP00000337418:V292M;ENSP00000411687:V562M;ENSP00000343939:V559M;ENSP00000398078:V516M	ENSP00000337418:V292M	V	+	1	0	HEPH	65334423	1.000000	0.71417	0.954000	0.39281	0.076000	0.17211	4.660000	0.61511	2.370000	0.80446	0.544000	0.68410	GTG		PASS	0.567	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		6	4	6	4	---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69561758	69561758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:69561758C>T	ENST00000374403.3	+	11	1325	c.1243C>T	c.(1243-1245)Cag>Tag	p.Q415*	KIF4A_ENST00000374388.3_Nonsense_Mutation_p.Q415*	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	415					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q415*(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCAGACAGCCCAGATGTTGGA	0.418																																						uc004dyg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(1243-1245)CAG>TAG		kinesin family member 4							102.0	101.0	101.0					X																	69561758		2203	4300	6503	SO:0001587	stop_gained	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69561758C>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1243C>T	X.37:g.69561758C>T	ENSP00000363524:p.Gln415*					KIF4A_uc010nkw.2_Nonsense_Mutation_p.Q415*|KIF4A_uc004dyf.1_Nonsense_Mutation_p.Q415*	p.Q415*	NM_012310	NP_036442	O95239	KIF4A_HUMAN			11	1370	+			415			Potential.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Nonsense_Mutation	SNP	ENST00000374403.3	37	c.1243C>T	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	37	6.444328	0.97572	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	.	.	.	4.77	3.88	0.44766	.	0.248403	0.28510	N	0.015090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	12.0176	0.53324	0.1741:0.8259:0.0:0.0	.	.	.	.	X	415	.	ENSP00000363509:Q415X	Q	+	1	0	KIF4A	69478483	0.995000	0.38212	0.998000	0.56505	0.941000	0.58515	2.289000	0.43523	0.964000	0.38108	0.422000	0.28245	CAG		PASS	0.418	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		5	56	5	56	---	---	---	---
ZCCHC13	389874	broad.mit.edu	37	X	73524496	73524496	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:73524496G>A	ENST00000339534.2	+	1	472	c.395G>A	c.(394-396)cGa>cAa	p.R132Q		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	132							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R132Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AAGTGTTACCGATGCGGCGAG	0.552																																						uc004ebs.3																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)CGA>CAA		zinc finger, CCHC domain containing 13							72.0	58.0	62.0					X																	73524496		2203	4300	6503	SO:0001583	missense	389874						nucleic acid binding|zinc ion binding	g.chrX:73524496G>A	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.395G>A	X.37:g.73524496G>A	ENSP00000345633:p.Arg132Gln						p.R132Q	NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN			1	472	+			132			CCHC-type 6.			Missense_Mutation	SNP	ENST00000339534.2	37	c.395G>A	CCDS14425.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315852	0.60524	.	.	ENSG00000187969	ENST00000339534	T	0.76709	-1.04	4.32	4.32	0.51571	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.065494	0.56097	U	0.000025	T	0.77844	0.4191	M	0.80616	2.505	0.40836	D	0.98363	P	0.48294	0.908	B	0.44044	0.439	T	0.77422	-0.2594	10	0.26408	T	0.33	.	11.1839	0.48644	0.0:0.0:1.0:0.0	.	132	Q8WW36	ZCH13_HUMAN	Q	132	ENSP00000345633:R132Q	ENSP00000345633:R132Q	R	+	2	0	ZCCHC13	73441221	1.000000	0.71417	0.182000	0.23118	0.147000	0.21601	6.274000	0.72587	2.409000	0.81822	0.529000	0.55759	CGA		PASS	0.552	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		13	16	13	16	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79286003	79286003	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:79286003G>A	ENST00000373294.5	+	8	984	c.956G>A	c.(955-957)aGc>aAc	p.S319N	TBX22_ENST00000373291.1_Missense_Mutation_p.S199N|TBX22_ENST00000442340.1_Missense_Mutation_p.S199N|TBX22_ENST00000373296.3_Missense_Mutation_p.S319N	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	319					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S319N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGGTGGAAGCAGTGGCTCA	0.423																																						uc010nmg.1																			1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(955-957)AGC>AAC		T-box 22 isoform 1							94.0	89.0	90.0					X																	79286003		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286003G>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.956G>A	X.37:g.79286003G>A	ENSP00000362390:p.Ser319Asn					TBX22_uc004edi.1_Missense_Mutation_p.S199N|TBX22_uc004edj.1_Missense_Mutation_p.S319N	p.S319N	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1090	+			319					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.956G>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814559	0.50527	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.88277	-2.36;-2.03;-2.36;-2.03	4.34	2.55	0.30701	.	0.461102	0.23284	N	0.049867	D	0.90314	0.6970	M	0.70275	2.135	0.43029	D	0.994597	D	0.60575	0.988	P	0.57204	0.815	D	0.86073	0.1539	10	0.23891	T	0.37	.	8.7753	0.34758	0.1957:0.0:0.8043:0.0	.	319	Q9Y458	TBX22_HUMAN	N	319;199;319;199	ENSP00000362393:S319N;ENSP00000396394:S199N;ENSP00000362390:S319N;ENSP00000362388:S199N	ENSP00000362388:S199N	S	+	2	0	TBX22	79172659	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	4.153000	0.58118	0.257000	0.21650	0.513000	0.50165	AGC		PASS	0.423	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		9	22	9	22	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128709224	128709224	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:128709224G>A	ENST00000371113.4	+	16	1875	c.1710G>A	c.(1708-1710)agG>agA	p.R570R	OCRL_ENST00000357121.5_Silent_p.R570R	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	570	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R570R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCAGCAGGAGGGAGGTGAGCA	0.443																																						uc004euq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(1708-1710)AGG>AGA		phosphatidylinositol polyphosphate 5-phosphatase							115.0	89.0	98.0					X																	128709224		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128709224G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1710G>A	X.37:g.128709224G>A						OCRL_uc004eur.2_Silent_p.R570R	p.R570R	NM_000276	NP_000267	Q01968	OCRL_HUMAN			16	1875	+			570					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.1710G>A	CCDS35393.1																																																																																				PASS	0.443	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		12	11	12	11	---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129203604	129203604	+	Silent	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:129203604C>A	ENST00000308167.5	-	8	1237	c.858G>T	c.(856-858)ctG>ctT	p.L286L	ELF4_ENST00000335997.7_Silent_p.L286L	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.L286L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACTGGTACACCAGCCTCTGCC	0.577			T	ERG	AML																																	uc004evd.3				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(856-858)CTG>CTT		E74-like factor 4							84.0	85.0	85.0					X																	129203604		2203	4300	6503	SO:0001819	synonymous_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129203604C>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.858G>T	X.37:g.129203604C>A						ELF4_uc004eve.3_Silent_p.L286L	p.L286L	NM_001421	NP_001412	Q99607	ELF4_HUMAN			8	1243	-			286			ETS.			Silent	SNP	ENST00000308167.5	37	c.858G>T	CCDS14617.1																																																																																				PASS	0.577	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		4	31	4	31	---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129790626	129790626	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:129790626C>A	ENST00000370927.1	-	8	1166	c.1145G>T	c.(1144-1146)cGa>cTa	p.R382L	ENOX2_ENST00000370935.1_Missense_Mutation_p.R353L|ENOX2_ENST00000338144.3_Missense_Mutation_p.R382L|ENOX2_ENST00000394363.1_Missense_Mutation_p.R353L			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	382					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.R382L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCTTCTTCTCGCCTGATTCC	0.313																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1144-1146)CGA>CTA		ecto-NOX disulfide-thiol exchanger 2 isoform b							146.0	124.0	131.0					X																	129790626		2203	4299	6502	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129790626C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1145G>T	X.37:g.129790626C>A	ENSP00000359965:p.Arg382Leu					ENOX2_uc004evx.2_Missense_Mutation_p.R353L|ENOX2_uc004evy.2_Missense_Mutation_p.R353L|ENOX2_uc004evv.2_Missense_Mutation_p.R209L	p.R382L	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			11	1563	-			382			Potential.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1145G>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658494	0.88154	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.27890	1.64;1.64	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.50274	0.1606	M	0.62723	1.935	0.51012	D	0.9999	D;D	0.69078	0.997;0.997	D;D	0.66716	0.946;0.946	T	0.46679	-0.9174	9	.	.	.	-10.9071	14.437	0.67287	0.0:1.0:0.0:0.0	.	382;410	Q16206;A4QPE1	ENOX2_HUMAN;.	L	353;353;382;353;410;382;353	ENSP00000337146:R382L;ENSP00000359965:R382L	.	R	-	2	0	ENOX2	129618307	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	6.978000	0.76147	2.283000	0.76528	0.600000	0.82982	CGA		PASS	0.313	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		3	40	3	40	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140996085	140996085	+	Silent	SNP	G	G	A			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:140996085G>A	ENST00000285879.4	+	4	3181	c.2895G>A	c.(2893-2895)ctG>ctA	p.L965L	MAGEC1_ENST00000406005.2_Silent_p.L32L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	965	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L965L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCATTTCCCTGAGAGAAGTGG	0.498										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2893-2895)CTG>CTA		melanoma antigen family C, 1							140.0	135.0	137.0					X																	140996085		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996085G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2895G>A	X.37:g.140996085G>A		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Silent_p.L32L	p.L965L	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3181	+	Acute lymphoblastic leukemia(192;6.56e-05)		965			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2895G>A	CCDS35417.1																																																																																				PASS	0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	81	7	81	---	---	---	---
FOSL2	2355	broad.mit.edu	37	2	28634924	28634928	+	Frame_Shift_Del	DEL	AGCGC	AGCGC	-	rs145499484	byFrequency	TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr2:28634924_28634928delAGCGC	ENST00000264716.4	+	4	1453_1457	c.590_594delAGCGC	c.(589-594)gagcgcfs	p.ER197fs	FOSL2_ENST00000379619.1_Frame_Shift_Del_p.ER189fs|FOSL2_ENST00000545753.1_Frame_Shift_Del_p.ER158fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	197					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGCCCCGAGGAGCGCCGATCGCCCC	0.639																																						uc002rma.2																			0				ovary(2)|breast(1)	3						c.(589-594)GAGCGCfs		FOS-like antigen 2																																				SO:0001589	frameshift_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634924_28634928delAGCGC		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.590_594delAGCGC	2.37:g.28634924_28634928delAGCGC	ENSP00000264716:p.Glu197fs					FOSL2_uc010ymi.1_Frame_Shift_Del_p.E158fs	p.E197fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN			4	1399_1403	+	Acute lymphoblastic leukemia(172;0.155)		197_198					B2RD58|B3KP27|B4DYV4|Q6FG46	Frame_Shift_Del	DEL	ENST00000264716.4	37	c.590_594delAGCGC	CCDS1766.1																																																																																					0.639	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		33	16	33	16	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37036542	37036542	+	Frame_Shift_Del	DEL	T	T	-			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr5:37036542delT	ENST00000282516.8	+	33	6423	c.5924delT	c.(5923-5925)gttfs	p.V1975fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.V1975fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1975					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTCAACTTGTTGATAACCTA	0.259																																						uc003jkl.3																			0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(5923-5925)GTTfs		delangin isoform A							18.0	18.0	18.0					5																	37036542		2175	4245	6420	SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37036542delT	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5924delT	5.37:g.37036542delT	ENSP00000282516:p.Val1975fs					NIPBL_uc003jkk.3_Frame_Shift_Del_p.V1975fs	p.V1975fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		33	6423	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1975			HEAT 3.		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.5924delT	CCDS3920.1																																																																																					0.259	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		4	2	4	2	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						uc001mxe.1																			0													Homo sapiens cDNA FLJ44864 fis, clone BRALZ2013621, moderately similar to Heterogeneous nuclear ribonucleoprotein K.																																						0							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA														2		-									RNA	DEL	ENST00000511537.1	37	c.1330delT																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		4	2	4	2	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685932	125685932	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2771-01A-01D-0983-08	TCGA-66-2771-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	58c73372-223f-400a-a2df-073a78c58b62	1c33d8c0-dd62-474a-8047-4cd4410deafe	g.chrX:125685932delC	ENST00000371126.1	-	1	902	c.660delG	c.(658-660)tggfs	p.W220fs		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	220										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGTCCATCCGCCACAGCGCCA	0.652																																						uc004eul.2																			0				skin(3)|ovary(1)	4						c.(658-660)TGGfs		DDB1 and CUL4 associated factor 12-like 1							33.0	34.0	34.0					X																	125685932		2202	4299	6501	SO:0001589	frameshift_variant	139170							g.chrX:125685932delC	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.660delG	X.37:g.125685932delC	ENSP00000360167:p.Trp220fs						p.W220fs	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	911	-			220			WD 2.		Q8IYK3	Frame_Shift_Del	DEL	ENST00000371126.1	37	c.660delG	CCDS14610.1																																																																																					0.652	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		12	8	12	8	---	---	---	---
