#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
GABRD	2563	broad.mit.edu	37	1	1961080	1961080	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:1961080A>T	ENST00000378585.4	+	8	1021	c.938A>T	c.(937-939)tAc>tTc	p.Y313F		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	313					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y313F(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGACGTCTACTTCTGGATC	0.587																																						uc001aip.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(937-939)TAC>TTC		gamma-aminobutyric acid (GABA) A receptor, delta							125.0	108.0	114.0					1																	1961080		2201	4300	6501	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1961080A>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.938A>T	1.37:g.1961080A>T	ENSP00000367848:p.Tyr313Phe						p.Y313F	NM_000815	NP_000806	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	8	1033	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	313			Helical; (Probable).		Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.938A>T	CCDS36.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.857365	0.71834	.	.	ENSG00000187730	ENST00000378585	D	0.88431	-2.38	4.09	4.09	0.47781	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.143553	0.49305	D	0.000159	D	0.89670	0.6782	L	0.35341	1.055	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.86746	0.1957	10	0.21014	T	0.42	-20.7699	12.7282	0.57183	1.0:0.0:0.0:0.0	.	313	O14764	GBRD_HUMAN	F	313	ENSP00000367848:Y313F	ENSP00000367848:Y313F	Y	+	2	0	GABRD	1950940	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	8.806000	0.91930	1.863000	0.54032	0.459000	0.35465	TAC		PASS	0.587	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		6	39	6	39	---	---	---	---
MMEL1	79258	broad.mit.edu	37	1	2529710	2529710	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:2529710A>T	ENST00000378412.3	-	13	1369	c.1208T>A	c.(1207-1209)cTg>cAg	p.L403Q	MMEL1_ENST00000288709.6_Missense_Mutation_p.L394Q|MMEL1_ENST00000502556.1_Missense_Mutation_p.L246Q			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	403						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L394Q(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GTCCAGCACCAGGCGCCAGAC	0.592																																						uc001ajy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)CTG>CAG		membrane metallo-endopeptidase-like 1							110.0	108.0	108.0					1																	2529710		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2529710A>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1208T>A	1.37:g.2529710A>T	ENSP00000367668:p.Leu403Gln					MMEL1_uc009vlg.1_RNA	p.L403Q	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	13	1422	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	403			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1208T>A	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529577	0.64860	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.77620	-1.11;-1.11;-1.11	4.87	4.87	0.63330	Peptidase M13 (1);	0.073155	0.56097	D	0.000026	D	0.88459	0.6442	M	0.87180	2.865	0.80722	D	1	D	0.63046	0.992	D	0.69142	0.962	D	0.90443	0.4433	10	0.87932	D	0	-17.8596	13.324	0.60449	1.0:0.0:0.0:0.0	.	403	Q495T6	MMEL1_HUMAN	Q	246;394;403;246	ENSP00000288709:L394Q;ENSP00000367668:L403Q;ENSP00000422492:L246Q	ENSP00000288709:L394Q	L	-	2	0	MMEL1	2519570	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.654000	0.91092	1.829000	0.53265	0.482000	0.46254	CTG		PASS	0.592	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		7	65	7	65	---	---	---	---
ACTRT2	140625	broad.mit.edu	37	1	2938634	2938634	+	Missense_Mutation	SNP	C	C	G	rs137995220		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:2938634C>G	ENST00000378404.2	+	1	589	c.384C>G	c.(382-384)ttC>ttG	p.F128L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	128						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.F128L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AAGTCATGTTCGAGAACTTCG	0.632																																						uc001ajz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)TTC>TTG		actin-related protein M2							83.0	77.0	79.0					1																	2938634		2203	4300	6503	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2938634C>G	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.384C>G	1.37:g.2938634C>G	ENSP00000367658:p.Phe128Leu						p.F128L	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	589	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	128					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.384C>G	CCDS45.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134069	0.37630	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.99259	-5.64	4.85	-7.26	0.01466	.	0.000000	0.64402	D	0.000019	D	0.98658	0.9550	H	0.95224	3.64	0.45962	D	0.998787	B	0.31859	0.343	B	0.34652	0.187	D	0.89395	0.3691	10	0.87932	D	0	.	12.3837	0.55322	0.0:0.4279:0.0:0.5721	.	128	Q8TDY3	ACTT2_HUMAN	L	128	ENSP00000367658:F128L	ENSP00000367658:F128L	F	+	3	2	ACTRT2	2928494	0.000000	0.05858	0.443000	0.26883	0.016000	0.09150	-3.135000	0.00588	-1.661000	0.01484	-1.267000	0.01435	TTC		PASS	0.632	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		18	31	18	31	---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6170001	6170001	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:6170001T>C	ENST00000262450.3	-	38	5531	c.5432A>G	c.(5431-5433)tAc>tGc	p.Y1811C	CHD5_ENST00000378021.1_Missense_Mutation_p.Y668C	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.Y1811C(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CATGTTCAGGTACGCGGCCCT	0.701																																						uc001amb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(5431-5433)TAC>TGC		chromodomain helicase DNA binding protein 5							39.0	43.0	42.0					1																	6170001		2202	4299	6501	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6170001T>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5432A>G	1.37:g.6170001T>C	ENSP00000262450:p.Tyr1811Cys					CHD5_uc001alz.1_Missense_Mutation_p.Y668C|CHD5_uc001ama.1_RNA	p.Y1811C	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	38	5532	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1811					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5432A>G	CCDS57.1	.	.	.	.	.	.	.	.	.	.	t	33	5.223652	0.95139	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.91521	-2.86;2.12	4.79	4.79	0.61399	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000004	D	0.94548	0.8244	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.89917	0.965;1.0	P;D	0.87578	0.778;0.998	D	0.95174	0.8293	10	0.87932	D	0	-32.5596	14.6159	0.68547	0.0:0.0:0.0:1.0	.	1811;668	Q8TDI0;Q5TG85	CHD5_HUMAN;.	C	1811;668;668	ENSP00000262450:Y1811C;ENSP00000367260:Y668C	ENSP00000262450:Y1811C	Y	-	2	0	CHD5	6092588	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.898000	0.87363	1.915000	0.55452	0.418000	0.28097	TAC		PASS	0.701	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		5	28	5	28	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10328302	10328302	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:10328302C>A	ENST00000377086.1	+	7	903	c.701C>A	c.(700-702)aCc>aAc	p.T234N	KIF1B_ENST00000263934.6_Missense_Mutation_p.T234N|KIF1B_ENST00000377093.4_Missense_Mutation_p.T234N|KIF1B_ENST00000377083.1_Missense_Mutation_p.T234N|KIF1B_ENST00000377081.1_Missense_Mutation_p.T234N			O60333	KIF1B_HUMAN	kinesin family member 1B	234	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.T234N(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATAATGAGACCAACCTTTCC	0.433																																						uc001aqx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(700-702)ACC>AAC		kinesin family member 1B isoform b							91.0	78.0	83.0					1																	10328302		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10328302C>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.701C>A	1.37:g.10328302C>A	ENSP00000366290:p.Thr234Asn					KIF1B_uc001aqv.3_Missense_Mutation_p.T234N|KIF1B_uc001aqw.3_Missense_Mutation_p.T234N|KIF1B_uc001aqy.2_Missense_Mutation_p.T234N|KIF1B_uc001aqz.2_Missense_Mutation_p.T234N|KIF1B_uc001ara.2_Missense_Mutation_p.T234N|KIF1B_uc001arb.2_Missense_Mutation_p.T234N|KIF1B_uc009vmt.2_RNA	p.T234N	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	7	903	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	234			Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.701C>A		.	.	.	.	.	.	.	.	.	.	C	29.3	4.995915	0.93167	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.94	5.94	0.96194	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	L	0.52011	1.625	0.80722	D	1	P;P;P;P;B;P;P	0.50617	0.714;0.583;0.893;0.877;0.009;0.937;0.6	P;P;P;P;B;P;B	0.52710	0.655;0.503;0.503;0.655;0.023;0.707;0.426	T	0.79386	-0.1825	10	0.52906	T	0.07	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	234;234;234;234;234;234;234	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	N	234	ENSP00000263934:T234N;ENSP00000366297:T234N;ENSP00000366290:T234N;ENSP00000366287:T234N;ENSP00000366284:T234N	ENSP00000263934:T234N	T	+	2	0	KIF1B	10250889	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	ACC		PASS	0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			13	10	13	10	---	---	---	---
KIAA2013	90231	broad.mit.edu	37	1	11983449	11983449	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:11983449C>T	ENST00000376572.3	-	2	1316	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	KIAA2013_ENST00000376576.3_Silent_p.L377L	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	377						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L377L(1)		endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGGCTGAGCAGTGGGGCTG	0.597																																						uc001atk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1129-1131)CTG>CTA		hypothetical protein LOC90231 precursor							83.0	73.0	76.0					1																	11983449		2203	4300	6503	SO:0001819	synonymous_variant	90231					integral to membrane		g.chr1:11983449C>T	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1131G>A	1.37:g.11983449C>T						KIAA2013_uc001atl.1_Silent_p.L377L	p.L377L	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1325	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	377			Extracellular (Potential).		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	ENST00000376572.3	37	c.1131G>A	CCDS141.1																																																																																				PASS	0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		5	58	5	58	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12567003	12567003	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:12567003C>T	ENST00000358136.3	+	69	13021	c.12891C>T	c.(12889-12891)gcC>gcT	p.A4297A	VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543766.1_Silent_p.A295A|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.A4272A|SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000543710.1_Silent_p.A101A	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.A4297A(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATCGAGAAGCCATTTTCCTAG	0.493																																						uc001atv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(12889-12891)GCC>GCT		vacuolar protein sorting 13D isoform 1							126.0	118.0	121.0					1																	12567003		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12567003C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12891C>T	1.37:g.12567003C>T						VPS13D_uc001atw.2_Silent_p.A4272A|VPS13D_uc001atx.2_Silent_p.A3484A|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Silent_p.A295A|SNORA59B_uc001atz.1_5'Flank	p.A4297A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	69	13032	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4296						Silent	SNP	ENST00000358136.3	37	c.12891C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390819	0.25118	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.88	4.97	0.65823	.	.	.	.	.	T	0.70684	0.3252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70117	-0.4960	4	.	.	.	.	14.8047	0.69945	0.0:0.9313:0.0:0.0687	.	.	.	.	L	3119	.	.	P	+	2	0	VPS13D	12489590	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.497000	0.53295	1.491000	0.48482	0.655000	0.94253	CCA		PASS	0.493	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		15	82	15	82	---	---	---	---
PRAMEF7	441871	broad.mit.edu	37	1	12979852	12979852	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:12979852C>A	ENST00000361079.2	+	4	1127	c.1044C>A	c.(1042-1044)gcC>gcA	p.A348A	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	348					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.A348A(1)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTTGTGGCCACCCTGCAGA	0.602																																						uc001aup.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1042-1044)GCC>GCA		PRAME family member 8							55.0	48.0	50.0					1																	12979852		1521	3182	4703	SO:0001819	synonymous_variant	391002							g.chr1:12979852C>A		CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1044C>A	1.37:g.12979852C>A							p.A348A	NM_001012276	NP_001012276	Q5VWM4	PRAM8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1127	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	348			LRR 2.		B9EIP0	Silent	SNP	ENST00000361079.2	37	c.1044C>A	CCDS30593.1																																																																																				PASS	0.602	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		22	56	22	56	---	---	---	---
SPATA21	374955	broad.mit.edu	37	1	16727236	16727236	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:16727236G>T	ENST00000335496.1	-	11	1635	c.1153C>A	c.(1153-1155)Cgg>Agg	p.R385R	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.R362R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	385							calcium ion binding (GO:0005509)	p.R385R(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TGCTTCAGCCGGCTCAGGATA	0.597																																						uc001ayn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1153-1155)CGG>AGG		spermatogenesis associated 21							124.0	133.0	130.0					1																	16727236		2203	4300	6503	SO:0001819	synonymous_variant	374955						calcium ion binding	g.chr1:16727236G>T		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1153C>A	1.37:g.16727236G>T						SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Silent_p.R362R	p.R385R	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	11	1636	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	385					B9EK40|F5GXP5	Silent	SNP	ENST00000335496.1	37	c.1153C>A	CCDS172.1																																																																																				PASS	0.597	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		82	59	82	59	---	---	---	---
PADI1	29943	broad.mit.edu	37	1	17552641	17552641	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:17552641T>G	ENST00000375471.4	+	6	732	c.640T>G	c.(640-642)Ttc>Gtc	p.F214V		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	214					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.F214V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGTGAGGGTCTTCTGTGCCAG	0.537																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)TTC>GTC		peptidylarginine deiminase type I	L-Citrulline(DB00155)						111.0	111.0	111.0					1																	17552641		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17552641T>G	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.640T>G	1.37:g.17552641T>G	ENSP00000364620:p.Phe214Val						p.F214V	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	6	732	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	214					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.640T>G	CCDS178.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.264576	0.59431	.	.	ENSG00000142623	ENST00000375471	T	0.26067	1.76	4.92	4.92	0.64577	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63024	-0.6729	10	0.59425	D	0.04	-30.9056	13.3906	0.60823	0.0:0.0:0.0:1.0	.	214	Q9ULC6	PADI1_HUMAN	V	214	ENSP00000364620:F214V	ENSP00000364620:F214V	F	+	1	0	PADI1	17425228	1.000000	0.71417	0.987000	0.45799	0.040000	0.13550	7.102000	0.77005	1.847000	0.53656	0.260000	0.18958	TTC		PASS	0.537	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		16	35	16	35	---	---	---	---
PADI1	29943	broad.mit.edu	37	1	17555289	17555289	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:17555289G>T	ENST00000375471.4	+	7	914	c.822G>T	c.(820-822)ccG>ccT	p.P274P		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	274					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.P274P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGGTGGACCCGGGGGTGTGTA	0.657																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(820-822)CCG>CCT		peptidylarginine deiminase type I	L-Citrulline(DB00155)						64.0	68.0	67.0					1																	17555289		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17555289G>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.822G>T	1.37:g.17555289G>T							p.P274P	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	7	914	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	274					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.822G>T	CCDS178.1																																																																																				PASS	0.657	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		54	31	54	31	---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24078941	24078941	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:24078941G>A	ENST00000418390.2	+	5	1819	c.1548G>A	c.(1546-1548)gcG>gcA	p.A516A	TCEB3_ENST00000609199.1_Silent_p.A490A	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	516			A -> V (in dbSNP:rs550252).		gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.A490A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CGTTACCCGCGATACAGGCCA	0.507																																						uc001bho.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1546-1548)GCG>GCA		elongin A							121.0	100.0	107.0					1																	24078941		2203	4300	6503	SO:0001819	synonymous_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24078941G>A	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1548G>A	1.37:g.24078941G>A							p.A516A	NM_003198	NP_003189	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	5	1608	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	516					B2R7Q8|Q8IXH1	Silent	SNP	ENST00000418390.2	37	c.1548G>A	CCDS239.2																																																																																				PASS	0.507	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		10	8	10	8	---	---	---	---
STPG1	90529	broad.mit.edu	37	1	24706237	24706237	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:24706237T>C	ENST00000374409.1	-	5	622	c.368A>G	c.(367-369)aAg>aGg	p.K123R	STPG1_ENST00000440416.1_Missense_Mutation_p.K76R|STPG1_ENST00000003583.8_Missense_Mutation_p.K76R|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.K123R	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	123					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K123R(1)|p.K76R(1)									AAAGTCTCTCTTGGAAATAAA	0.413																																						uc001bjc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(367-369)AAG>AGG		RecName: Full=UPF0490 protein C1orf201;							111.0	111.0	111.0					1																	24706237		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24706237T>C	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.368A>G	1.37:g.24706237T>C	ENSP00000363530:p.Lys123Arg					C1orf201_uc001bja.2_Missense_Mutation_p.K76R|C1orf201_uc001bjb.2_Missense_Mutation_p.K31R|C1orf201_uc001bjd.2_Missense_Mutation_p.K123R|C1orf201_uc001bje.1_Missense_Mutation_p.K76R|C1orf201_uc001bjf.2_5'UTR	p.K123R			Q5TH74	CA201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)	5	503	-		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)	123					Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.368A>G	CCDS55581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.15|17.15	3.314751|3.314751	0.60524|0.60524	.|.	.|.	ENSG00000001460|ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986;ENST00000438866;ENST00000374404|ENST00000435187	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71039|0.71039	0.3293|0.3293	M|M	0.65975|0.65975	2.015|2.015	0.47374|0.47374	D|D	0.999405|0.999405	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.83275|.	0.991;0.996|.	T|T	0.70842|0.70842	-0.4762|-0.4762	9|5	0.48119|.	T|.	0.1|.	-29.0935|-29.0935	12.7163|12.7163	0.57117|0.57117	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	123;76|.	Q5TH74;Q5TH74-3|.	CA201_HUMAN;.|.	R|G	123;76;76;123;123;26;27|100	.|.	ENSP00000003583:K76R|.	K|R	-|-	2|1	0|2	C1orf201|C1orf201	24578824|24578824	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.474000|0.474000	0.32979|0.32979	3.972000|3.972000	0.56838|0.56838	2.254000|2.254000	0.74563|0.74563	0.460000|0.460000	0.39030|0.39030	AAG|AGA		PASS	0.413	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		33	37	33	37	---	---	---	---
PTAFR	5724	broad.mit.edu	37	1	28477001	28477001	+	Missense_Mutation	SNP	C	C	T	rs184182216		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:28477001C>T	ENST00000373857.3	-	2	1166	c.532G>A	c.(532-534)Gag>Aag	p.E178K	PTAFR_ENST00000305392.3_Missense_Mutation_p.E178K|PTAFR_ENST00000539896.1_Missense_Mutation_p.E178K	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	178					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.E178K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCTTCTCGTAATGCTCA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		24795	0.001		0.0	False		,,,				2504	0.0					uc001bpl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)GAG>AAG		platelet-activating factor receptor							115.0	88.0	97.0					1																	28477001		2203	4300	6503	SO:0001583	missense	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28477001C>T	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.532G>A	1.37:g.28477001C>T	ENSP00000362965:p.Glu178Lys					PTAFR_uc001bpm.3_Missense_Mutation_p.E178K|PTAFR_uc009vte.2_Missense_Mutation_p.E178K	p.E178K	NM_000952	NP_000943	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	659	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	178			Extracellular (Potential).		A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	c.532G>A	CCDS318.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.11	3.763936	0.69878	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.37752	1.18;1.18;1.18	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.427833	0.26991	N	0.021461	T	0.22898	0.0553	N	0.17474	0.49	0.41362	D	0.987438	P	0.51933	0.949	B	0.38755	0.281	T	0.04579	-1.0941	10	0.40728	T	0.16	.	14.5079	0.67764	0.0:0.8534:0.1466:0.0	.	178	P25105	PTAFR_HUMAN	K	178	ENSP00000362965:E178K;ENSP00000442658:E178K;ENSP00000301974:E178K	ENSP00000301974:E178K	E	-	1	0	PTAFR	28349588	0.964000	0.33143	0.985000	0.45067	0.960000	0.62799	1.802000	0.38853	2.467000	0.83353	0.563000	0.77884	GAG		PASS	0.542	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		12	26	12	26	---	---	---	---
YTHDF2	51441	broad.mit.edu	37	1	29070237	29070237	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:29070237G>T	ENST00000373812.3	+	4	1817	c.1455G>T	c.(1453-1455)gtG>gtT	p.V485V	YTHDF2_ENST00000542507.1_Silent_p.V485V|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Silent_p.V435V	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	485	Interaction with m6A-containing mRNAs.|YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.V485V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCAGGTGTGTGGTCCCAGG	0.493																																						uc001brc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1453-1455)GTG>GTT		high glucose-regulated protein 8							76.0	76.0	76.0					1																	29070237		1917	4124	6041	SO:0001819	synonymous_variant	51441				humoral immune response			g.chr1:29070237G>T	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1455G>T	1.37:g.29070237G>T						YTHDF2_uc001brd.2_Silent_p.V482V|YTHDF2_uc010ofx.1_Silent_p.V435V|YTHDF2_uc001bre.2_Silent_p.V435V	p.V485V	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	1952	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	485			YTH.		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Silent	SNP	ENST00000373812.3	37	c.1455G>T	CCDS41296.1																																																																																				PASS	0.493	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		23	39	23	39	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34102088	34102088	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:34102088A>T	ENST00000373380.1	-	9	1680	c.1460T>A	c.(1459-1461)cTg>cAg	p.L487Q	CSMD2_ENST00000373381.4_Missense_Mutation_p.L1614Q|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1574	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1574Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCCAGCTTCAGGTCGGACCC	0.582																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(4720-4722)CTG>CAG		CUB and Sushi multiple domains 2							68.0	61.0	63.0					1																	34102088		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34102088A>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1460T>A	1.37:g.34102088A>T	ENSP00000362478:p.Leu487Gln					CSMD2_uc001bxm.1_Missense_Mutation_p.L1614Q|CSMD2_uc001bxo.1_Missense_Mutation_p.L487Q	p.L1574Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			30	4750	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1574			Extracellular (Potential).|Sushi 9.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4721T>A		.	.	.	.	.	.	.	.	.	.	A	16.04	3.010299	0.54361	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65916	-0.18;-0.18	5.76	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (3);	0.160215	0.43110	D	0.000609	T	0.75722	0.3888	M	0.71581	2.175	0.80722	D	1	P;D;D	0.69078	0.888;0.99;0.997	P;D;D	0.73708	0.795;0.953;0.981	T	0.77054	-0.2730	10	0.72032	D	0.01	.	10.8786	0.46925	0.9264:0.0:0.0736:0.0	.	487;1574;1614	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	Q	1614;487	ENSP00000362479:L1614Q;ENSP00000362478:L487Q	ENSP00000241312:L1574Q	L	-	2	0	CSMD2	33874675	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.448000	0.80631	1.015000	0.39444	-0.415000	0.06103	CTG		PASS	0.582	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		15	9	15	9	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34191097	34191097	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:34191097C>A	ENST00000373381.4	-	17	2724	c.2548G>T	c.(2548-2550)Gat>Tat	p.D850Y		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	810	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D810Y(1)|p.D810N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCGCCCATCGCGTACTTCC	0.493																																						uc001bxn.1																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(2428-2430)GAT>TAT		CUB and Sushi multiple domains 2							94.0	97.0	96.0					1																	34191097		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34191097C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2548G>T	1.37:g.34191097C>A	ENSP00000362479:p.Asp850Tyr					CSMD2_uc001bxm.1_Missense_Mutation_p.D850Y	p.D810Y	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			17	2457	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	810			CUB 5.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2428G>T		.	.	.	.	.	.	.	.	.	.	C	17.83	3.485589	0.63962	.	.	ENSG00000121904	ENST00000373381	T	0.68903	-0.36	5.89	5.89	0.94794	CUB (5);	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88936	0.3376	10	0.72032	D	0.01	.	19.2499	0.93919	0.0:1.0:0.0:0.0	.	810;850	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Y	850	ENSP00000362479:D850Y	ENSP00000241312:D810Y	D	-	1	0	CSMD2	33963684	1.000000	0.71417	0.997000	0.53966	0.012000	0.07955	7.796000	0.85898	2.793000	0.96121	0.655000	0.94253	GAT		PASS	0.493	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		19	33	19	33	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35365738	35365738	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:35365738G>C	ENST00000373347.1	-	4	1512	c.1244C>G	c.(1243-1245)aCa>aGa	p.T415R	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T415R			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	415					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.T415R(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)				TTTGGGAGATGTCTTGGGGCT	0.662																																						uc001byc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1243-1245)ACA>AGA		discs, large (Drosophila) homolog-associated							113.0	103.0	107.0					1																	35365738		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365738G>C	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.1244C>G	1.37:g.35365738G>C	ENSP00000362444:p.Thr415Arg						p.T415R	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			2	1244	-		Myeloproliferative disorder(586;0.0393)	415					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.1244C>G	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510968	0.44660	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	D;D	0.88201	-2.35;-2.35	4.44	3.44	0.39384	.	0.325421	0.33253	N	0.005107	T	0.82235	0.4993	L	0.46157	1.445	0.25763	N	0.984926	B	0.28128	0.201	B	0.29267	0.1	T	0.73902	-0.3836	10	0.72032	D	0.01	-6.0994	3.6061	0.08043	0.3594:0.0:0.6406:0.0	.	415	O95886	DLGP3_HUMAN	R	415;415;98	ENSP00000362444:T415R;ENSP00000235180:T415R	ENSP00000235180:T415R	T	-	2	0	DLGAP3	35138325	0.993000	0.37304	0.997000	0.53966	0.877000	0.50540	3.039000	0.49791	2.296000	0.77279	0.313000	0.20887	ACA		PASS	0.662	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		10	48	10	48	---	---	---	---
KIAA0319L	79932	broad.mit.edu	37	1	35921739	35921739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:35921739G>A	ENST00000325722.3	-	10	1765	c.1531C>T	c.(1531-1533)Caa>Taa	p.Q511*	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_5'Flank	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	511	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q511*(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGATCACTTGGTTGGGGCCT	0.532																																						uc001byx.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)	2						c.(1531-1533)CAA>TAA		dyslexia susceptibility 2-like							185.0	182.0	183.0					1																	35921739		2203	4300	6503	SO:0001587	stop_gained	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35921739G>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1531C>T	1.37:g.35921739G>A	ENSP00000318406:p.Gln511*					KIAA0319L_uc001byw.2_5'Flank|KIAA0319L_uc010ohv.1_Nonsense_Mutation_p.Q153*	p.Q511*	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			10	1789	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	511			PKD 3.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Nonsense_Mutation	SNP	ENST00000325722.3	37	c.1531C>T	CCDS390.1	.	.	.	.	.	.	.	.	.	.	G	38	6.815799	0.97861	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-6.5861	18.5733	0.91145	0.0:0.0:1.0:0.0	.	.	.	.	X	511	.	ENSP00000318406:Q511X	Q	-	1	0	KIAA0319L	35694326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.635000	0.89317	0.650000	0.86243	CAA		PASS	0.532	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		69	46	69	46	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37325587	37325587	+	Missense_Mutation	SNP	C	C	A	rs114188187		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:37325587C>A	ENST00000373091.3	-	6	834	c.818G>T	c.(817-819)cGc>cTc	p.R273L	GRIK3_ENST00000373093.4_Missense_Mutation_p.R273L|GRIK3_ENST00000462621.1_5'Flank	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	273					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R273L(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCCTGAGTAGCGGTAGGGCTC	0.567																																						uc001caz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(817-819)CGC>CTC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						98.0	104.0	102.0					1																	37325587		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37325587C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.818G>T	1.37:g.37325587C>A	ENSP00000362183:p.Arg273Leu					GRIK3_uc001cba.1_Missense_Mutation_p.R273L	p.R273L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			6	953	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	273			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.818G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282770	0.80692	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.20598	2.06;2.06	5.81	5.81	0.92471	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	M	0.80746	2.51	0.80722	D	1	P;P	0.44776	0.843;0.843	P;P	0.54965	0.765;0.688	T	0.18147	-1.0346	10	0.35671	T	0.21	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	273;273	A9Z1Z8;Q13003	.;GRIK3_HUMAN	L	273	ENSP00000362183:R273L;ENSP00000362185:R273L	ENSP00000362183:R273L	R	-	2	0	GRIK3	37098174	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.746000	0.94184	0.655000	0.94253	CGC		PASS	0.567	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		35	34	35	34	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39715746	39715746	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:39715746C>G	ENST00000372915.3	+	3	430	c.343C>G	c.(343-345)Ctg>Gtg	p.L115V	MACF1_ENST00000536367.1_Missense_Mutation_p.L78V|RP11-420K8.1_ENST00000289890.7_RNA|MACF1_ENST00000567887.1_Missense_Mutation_p.L115V|MACF1_ENST00000539005.1_Missense_Mutation_p.L115V|MACF1_ENST00000564288.1_Missense_Mutation_p.L78V|MACF1_ENST00000317713.7_Missense_Mutation_p.L115V|MACF1_ENST00000545844.1_Missense_Mutation_p.L115V|MACF1_ENST00000361689.2_Missense_Mutation_p.L115V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	115	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L115V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTGATCTCTCTGTTGGAGGT	0.433																																						uc010ois.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(343-345)CTG>GTG		microfilament and actin filament cross-linker							194.0	176.0	182.0					1																	39715746		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39715746C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.343C>G	1.37:g.39715746C>G	ENSP00000362006:p.Leu115Val					MACF1_uc001cda.1_Missense_Mutation_p.L23V|MACF1_uc010oit.1_Missense_Mutation_p.L78V	p.L115V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		5	548	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	115			Actin-binding.|CH 1.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.343C>G		.	.	.	.	.	.	.	.	.	.	C	24.4	4.526382	0.85600	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000494012;ENST00000536367	D;D;D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	5.56	5.56	0.83823	.	.	.	.	.	D	0.98444	0.9482	M	0.84219	2.685	0.58432	D	0.999992	D;B;D	0.69078	0.996;0.006;0.997	D;B;D	0.81914	0.995;0.013;0.927	D	0.98758	1.0723	9	0.54805	T	0.06	.	17.6768	0.88233	0.0:1.0:0.0:0.0	.	78;115;80	B4E2T3;F8W8Q1;Q9UPN3-3	.;.;.	V	115;115;115;131;115;115;73;78;78	ENSP00000439537:L115V;ENSP00000362006:L115V;ENSP00000354573:L115V;ENSP00000313438:L115V;ENSP00000444364:L115V;ENSP00000435070:L73V;ENSP00000435892:L78V;ENSP00000440369:L78V	ENSP00000313438:L115V	L	+	1	2	MACF1	39488333	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	2.480000	0.45206	2.777000	0.95525	0.591000	0.81541	CTG		PASS	0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		69	41	69	41	---	---	---	---
KIAA0754	643314	broad.mit.edu	37	1	39876940	39876940	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:39876940G>C	ENST00000530275.1	+	1	790	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	199										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTGAGGGAGAGTGGGAGGA	0.448											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009vvt.1																			0					0						c.(1003-1005)GAG>CAG		hypothetical protein LOC643314							79.0	80.0	80.0					1																	39876940		1941	4138	6079	SO:0001583	missense	643314							g.chr1:39876940G>C			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.595G>C	1.37:g.39876940G>C	ENSP00000431179:p.Glu199Gln		OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.E335Q	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1765	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	199					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.1003G>C		.	.	.	.	.	.	.	.	.	.	G	18.11	3.550536	0.65311	.	.	ENSG00000255103	ENST00000530275	T	0.44881	0.91	4.38	4.38	0.52667	.	.	.	.	.	T	0.53077	0.1774	L	0.27053	0.805	0.25575	N	0.986857	D	0.71674	0.998	D	0.69824	0.966	T	0.52675	-0.8544	9	0.87932	D	0	.	17.351	0.87324	0.0:0.0:1.0:0.0	.	199	O94854	K0754_HUMAN	Q	199	ENSP00000431179:E199Q	ENSP00000431179:E199Q	E	+	1	0	RP4-562N20.1	39649527	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.534000	0.73833	2.165000	0.68154	0.655000	0.94253	GAG		PASS	0.448	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		11	53	11	53	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39945559	39945559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:39945559C>T	ENST00000372915.3	+	95	21745	c.21658C>T	c.(21658-21660)Cga>Tga	p.R7220*	MACF1_ENST00000567887.1_Nonsense_Mutation_p.R7387*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.R5132*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.R7350*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.R5262*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.R5262*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.R5770*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.R5262*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7220	C-terminal tail. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R5262*(1)|p.R5770*(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCACGGGGTCGAAGGTCCAA	0.522																																						uc010oiu.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(17308-17310)CGA>TGA		microfilament and actin filament cross-linker							100.0	84.0	89.0					1																	39945559		2203	4300	6503	SO:0001587	stop_gained	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39945559C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21658C>T	1.37:g.39945559C>T	ENSP00000362006:p.Arg7220*					MACF1_uc010ois.1_Nonsense_Mutation_p.R5262*|MACF1_uc001cde.1_Nonsense_Mutation_p.R139*|MACF1_uc001cdf.1_Nonsense_Mutation_p.R145*|MACF1_uc001cdg.2_Nonsense_Mutation_p.R53*|MACF1_uc001cdh.2_Nonsense_Mutation_p.R53*	p.R5770*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		62	17439	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7220			C-terminal tail (By similarity).		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.17308C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.988108|3.988108	0.74589|0.74589	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218;ENST00000422234|ENST00000372925;ENST00000446276	.|.	.|.	.|.	5.91|5.91	4.02|4.02	0.46733|0.46733	.|.	0.000000|.	0.47852|.	D|.	0.000210|.	.|T	.|0.62282	.|0.2415	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58781	.|-0.7576	.|4	.|.	.|.	.|.	.|.	11.1552|11.1552	0.48484|0.48484	0.1285:0.8054:0.0:0.066|0.1285:0.8054:0.0:0.066	.|.	.|.	.|.	.|.	X|L	5262;7220;5262;5262;5132;5770;139;124|4265;249	.|.	.|.	R|S	+|+	1|2	2|0	MACF1|MACF1	39718146|39718146	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.988000|0.988000	0.76386|0.76386	5.713000|5.713000	0.68415|0.68415	0.816000|0.816000	0.34421|0.34421	0.655000|0.655000	0.94253|0.94253	CGA|TCG		PASS	0.522	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		11	37	11	37	---	---	---	---
CTPS1	1503	broad.mit.edu	37	1	41474386	41474386	+	Splice_Site	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:41474386G>T	ENST00000372621.4	+	15	1957	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	CTPS1_ENST00000372616.1_Splice_Site_p.E483D|CTPS1_ENST00000541520.1_Splice_Site_p.E252D	NM_001905.2	NP_001896.2			CTP synthase 1									p.E483D(2)		endometrium(3)|lung(10)	13						ACCGATTTGAGGTGAGGATTC	0.468																																						uc001cgk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1447-1449)GAG>GAT		CTP synthase	L-Glutamine(DB00130)						108.0	108.0	108.0					1																	41474386		2203	4300	6503	SO:0001630	splice_region_variant	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41474386G>T	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1449+1G>T	1.37:g.41474386G>T						CTPS_uc010ojo.1_Missense_Mutation_p.E252D|CTPS_uc001cgl.3_Missense_Mutation_p.E483D|CTPS_uc010ojq.1_Missense_Mutation_p.E327D|CTPS_uc009vwe.2_Intron	p.E483D	NM_001905	NP_001896	P17812	PYRG1_HUMAN			15	1957	+	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	483			Glutamine amidotransferase type-1.			Missense_Mutation	SNP	ENST00000372621.4	37	c.1449G>T	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098205	0.94197	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	D;D;D	0.90955	-2.76;-2.76;-2.76	5.25	5.25	0.73442	Glutamine amidotransferase type 1 (2);	0.091772	0.85682	D	0.000000	D	0.97188	0.9081	H	0.98594	4.275	0.80722	D	1	D	0.61080	0.989	D	0.65773	0.938	D	0.98581	1.0650	10	0.87932	D	0	.	16.6765	0.85280	0.0:0.0:1.0:0.0	.	483	P17812	PYRG1_HUMAN	D	483;252;483	ENSP00000361704:E483D;ENSP00000442646:E252D;ENSP00000361699:E483D	ENSP00000361699:E483D	E	+	3	2	CTPS	41246973	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.079000	0.76829	2.606000	0.88127	0.655000	0.94253	GAG		PASS	0.468	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905	Missense_Mutation	25	40	25	40	---	---	---	---
CLDN19	149461	broad.mit.edu	37	1	43204186	43204186	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:43204186G>C	ENST00000296387.1	-	2	484	c.294C>G	c.(292-294)agC>agG	p.S98R	CLDN19_ENST00000539749.1_Missense_Mutation_p.S98R|CLDN19_ENST00000372539.3_Missense_Mutation_p.S98R	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	98					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S98R(1)		breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCCAACTACGCTGAGGACCA	0.642																																						uc001cht.1																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)AGC>AGG		claudin 19 isoform a							98.0	79.0	85.0					1																	43204186		2203	4300	6503	SO:0001583	missense	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43204186G>C	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.294C>G	1.37:g.43204186G>C	ENSP00000296387:p.Ser98Arg					CLDN19_uc001chu.2_Missense_Mutation_p.S98R|CLDN19_uc010ojv.1_Missense_Mutation_p.S98R	p.S98R	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN			2	485	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	98			Helical; (Potential).		B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.294C>G	CCDS471.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228643	0.58777	.	.	ENSG00000164007	ENST00000296387;ENST00000539749;ENST00000372539	D;D;D	0.89050	-2.46;-2.46;-2.46	4.89	-2.61	0.06171	.	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	M	0.92833	3.35	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.75020	0.971;0.952;0.985	D	0.91947	0.5568	10	0.87932	D	0	.	9.8057	0.40792	0.608:0.0:0.392:0.0	.	98;98;98	F5H5P9;Q8N6F1-2;Q8N6F1	.;.;CLD19_HUMAN	R	98	ENSP00000296387:S98R;ENSP00000443229:S98R;ENSP00000361617:S98R	ENSP00000296387:S98R	S	-	3	2	CLDN19	42976773	0.767000	0.28508	0.679000	0.29978	0.722000	0.41435	-0.025000	0.12413	-0.685000	0.05177	-0.657000	0.03884	AGC		PASS	0.642	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960		4	27	4	27	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43777783	43777783	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:43777783C>T	ENST00000372476.3	+	11	1690	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	TIE1_ENST00000433781.2_Silent_p.L182L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	537	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L537L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCCACCCTCATGACCACAG	0.612																																						uc001ciu.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1609-1611)CTC>CTT		tyrosine kinase with immunoglobulin-like and							42.0	44.0	43.0					1																	43777783		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777783C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1611C>T	1.37:g.43777783C>T						TIE1_uc010okd.1_Silent_p.L537L|TIE1_uc010oke.1_Silent_p.L492L|TIE1_uc009vwq.2_Silent_p.L493L|TIE1_uc010okf.1_Silent_p.L182L|TIE1_uc010okg.1_Silent_p.L182L	p.L537L	NM_005424	NP_005415	P35590	TIE1_HUMAN			11	1690	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	537			Extracellular (Potential).|Fibronectin type-III 1.		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1611C>T	CCDS482.1																																																																																				PASS	0.612	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		17	9	17	9	---	---	---	---
KIF2C	11004	broad.mit.edu	37	1	45223802	45223802	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:45223802A>G	ENST00000372224.4	+	13	1327	c.1214A>G	c.(1213-1215)tAc>tGc	p.Y405C	RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.Y292C|KIF2C_ENST00000372218.4_Missense_Mutation_p.Y364C|KIF2C_ENST00000372217.1_Missense_Mutation_p.Y351C	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	405	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.Y405C(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTCGAGATCTACAATGGGAAG	0.507																																						uc001cmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1213-1215)TAC>TGC		kinesin family member 2C							104.0	97.0	100.0					1																	45223802		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45223802A>G	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1214A>G	1.37:g.45223802A>G	ENSP00000361298:p.Tyr405Cys					KIF2C_uc010olb.1_Missense_Mutation_p.Y364C|KIF2C_uc010olc.1_Missense_Mutation_p.Y292C|KIF2C_uc001cmh.3_Missense_Mutation_p.Y351C	p.Y405C	NM_006845	NP_006836	Q99661	KIF2C_HUMAN			13	1329	+	Acute lymphoblastic leukemia(166;0.155)		405			Kinesin-motor.		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.1214A>G	CCDS512.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.689544	0.88735	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.99	5.99	0.97316	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.96100	0.8729	H	0.97265	3.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97546	1.0089	10	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	364;351;405	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	C	405;364;292;351	ENSP00000361298:Y405C;ENSP00000361292:Y364C;ENSP00000361296:Y292C;ENSP00000361291:Y351C	ENSP00000361291:Y351C	Y	+	2	0	KIF2C	44996389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	TAC		PASS	0.507	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		20	62	20	62	---	---	---	---
HECTD3	79654	broad.mit.edu	37	1	45469374	45469374	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:45469374C>T	ENST00000372172.4	-	20	2539	c.2468G>A	c.(2467-2469)tGc>tAc	p.C823Y	HECTD3_ENST00000372168.3_Missense_Mutation_p.C433Y|HECTD3_ENST00000486132.1_5'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	823	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.C539Y(1)|p.C823Y(1)|p.C433Y(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGTGCTGGAGCAAGTGGAAGA	0.597																																						uc009vxk.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2467-2469)TGC>TAC		HECT domain containing 3							62.0	71.0	68.0					1																	45469374		2052	4217	6269	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45469374C>T	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2468G>A	1.37:g.45469374C>T	ENSP00000361245:p.Cys823Tyr					HECTD3_uc001cmx.3_Missense_Mutation_p.C172Y|HECTD3_uc001cmy.3_Missense_Mutation_p.C433Y|HECTD3_uc010olh.1_Missense_Mutation_p.C539Y	p.C823Y	NM_024602	NP_078878	Q5T447	HECD3_HUMAN			20	2566	-	Acute lymphoblastic leukemia(166;0.155)		823	C->A: Loss of ubiquitin-ligase activity.		HECT.	Glycyl thioester intermediate.	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.2468G>A	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	29.2	4.988116	0.93106	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	D;D	0.97994	-4.65;-4.65	5.64	5.64	0.86602	HECT (4);	0.040721	0.85682	D	0.000000	D	0.99269	0.9745	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.996;0.999	D	0.98824	1.0748	10	0.87932	D	0	.	19.7032	0.96063	0.0:1.0:0.0:0.0	.	823;433	Q5T447;Q5T447-2	HECD3_HUMAN;.	Y	823;433	ENSP00000361245:C823Y;ENSP00000361241:C433Y	ENSP00000361241:C433Y	C	-	2	0	HECTD3	45241961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.531000	0.81973	2.660000	0.90430	0.558000	0.71614	TGC		PASS	0.597	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		20	19	20	19	---	---	---	---
CYP4B1	1580	broad.mit.edu	37	1	47283849	47283849	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:47283849A>G	ENST00000271153.4	+	11	1352	c.1316A>G	c.(1315-1317)cAt>cGt	p.H439R	CYP4B1_ENST00000371923.4_Missense_Mutation_p.H440R|CYP4B1_ENST00000452782.2_Missense_Mutation_p.H277R|CYP4B1_ENST00000371919.4_Missense_Mutation_p.H425R			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	439					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.H439R(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TCCAAACGCCATCCCTTTGCC	0.562																																						uc001cqm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1315-1317)CAT>CGT		cytochrome P450, family 4, subfamily B,							147.0	135.0	139.0					1																	47283849		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47283849A>G	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1316A>G	1.37:g.47283849A>G	ENSP00000271153:p.His439Arg					CYP4B1_uc001cqn.3_Missense_Mutation_p.H440R|CYP4B1_uc009vym.2_Missense_Mutation_p.H425R|CYP4B1_uc010omk.1_Missense_Mutation_p.H276R	p.H439R	NM_000779	NP_000770	P13584	CP4B1_HUMAN			11	1400	+	Acute lymphoblastic leukemia(166;0.155)		439					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1316A>G	CCDS542.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629214	0.46944	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	6.11	6.11	0.99139	.	0.155716	0.64402	D	0.000014	D	0.83695	0.5310	M	0.84948	2.725	0.43296	D	0.995284	D;D;D	0.64830	0.994;0.989;0.991	D;D;D	0.72625	0.95;0.962;0.978	D	0.86175	0.1602	10	0.87932	D	0	.	16.3636	0.83296	1.0:0.0:0.0:0.0	.	425;440;439	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	R	440;439;425;277	ENSP00000360991:H440R;ENSP00000271153:H439R;ENSP00000360987:H425R;ENSP00000400413:H277R	ENSP00000271153:H439R	H	+	2	0	CYP4B1	47056436	0.967000	0.33354	0.974000	0.42286	0.005000	0.04900	4.426000	0.59882	2.343000	0.79666	0.533000	0.62120	CAT		PASS	0.562	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		43	26	43	26	---	---	---	---
ELAVL4	1996	broad.mit.edu	37	1	50642799	50642799	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:50642799C>G	ENST00000371823.4	+	3	513	c.289C>G	c.(289-291)Cca>Gca	p.P97A	ELAVL4_ENST00000371827.1_Missense_Mutation_p.P97A|RP11-567C20.2_ENST00000442477.1_RNA|ELAVL4_ENST00000357083.4_Missense_Mutation_p.P114A|ELAVL4_ENST00000371819.1_Missense_Mutation_p.P102A|ELAVL4_ENST00000448907.2_Missense_Mutation_p.P100A|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371824.1_Missense_Mutation_p.P97A|ELAVL4_ENST00000371821.1_Missense_Mutation_p.P102A	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	97	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P97A(1)|p.P114A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTATATTGATCCAAAGGATGC	0.418																																						uc001csb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(289-291)CCA>GCA		ELAV-like 4 isoform 1							102.0	95.0	98.0					1																	50642799		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50642799C>G	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.289C>G	1.37:g.50642799C>G	ENSP00000360888:p.Pro97Ala					ELAVL4_uc001cry.3_Missense_Mutation_p.P100A|ELAVL4_uc001crz.3_Missense_Mutation_p.P97A|ELAVL4_uc001csa.3_Missense_Mutation_p.P114A|ELAVL4_uc001csc.3_Missense_Mutation_p.P97A|ELAVL4_uc009vyu.2_Missense_Mutation_p.P102A|ELAVL4_uc010omz.1_Missense_Mutation_p.P102A	p.P97A	NM_021952	NP_068771	P26378	ELAV4_HUMAN			3	557	+			97			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.289C>G	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001476	0.35320	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	N	0.25060	0.705	0.80722	D	1	B;B;B;B;B;B;B	0.20988	0.004;0.05;0.004;0.004;0.002;0.001;0.004	B;B;B;B;B;B;B	0.17979	0.003;0.02;0.008;0.004;0.003;0.002;0.003	T	0.05989	-1.0852	10	0.34782	T	0.22	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	102;102;97;97;114;97;100	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	A	100;97;114;97;97;102;102	ENSP00000399939:P100A;ENSP00000360892:P97A;ENSP00000349594:P114A;ENSP00000360889:P97A;ENSP00000360888:P97A;ENSP00000360886:P102A;ENSP00000360884:P102A	ENSP00000349594:P114A	P	+	1	0	ELAVL4	50415386	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.861000	0.98227	0.655000	0.94253	CCA		PASS	0.418	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		10	49	10	49	---	---	---	---
C1orf168	199920	broad.mit.edu	37	1	57216842	57216842	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:57216842T>A	ENST00000343433.6	-	9	1342	c.1262A>T	c.(1261-1263)cAg>cTg	p.Q421L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	421								p.Q421L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTTGGTCATCTGAATTTTTTC	0.458																																						uc001cym.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1261-1263)CAG>CTG		hypothetical protein LOC199920							117.0	100.0	106.0					1																	57216842		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57216842T>A	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1262A>T	1.37:g.57216842T>A	ENSP00000345972:p.Gln421Leu					C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA	p.Q421L	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			9	1668	-			421					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.1262A>T	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128368	0.37533	.	.	ENSG00000187889	ENST00000343433	T	0.34472	1.36	4.0	4.0	0.46444	.	0.364072	0.23298	N	0.049705	T	0.33498	0.0865	L	0.32530	0.975	0.09310	N	1	P	0.52061	0.95	P	0.49887	0.625	T	0.09422	-1.0675	10	0.40728	T	0.16	-0.4735	9.5783	0.39472	0.0:0.0:0.0:1.0	.	421	Q5VWT5	CA168_HUMAN	L	421	ENSP00000345972:Q421L	ENSP00000345972:Q421L	Q	-	2	0	C1orf168	56989430	0.011000	0.17503	0.041000	0.18516	0.022000	0.10575	1.726000	0.38085	2.024000	0.59613	0.528000	0.53228	CAG		PASS	0.458	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		6	33	6	33	---	---	---	---
EFCAB7	84455	broad.mit.edu	37	1	64034182	64034182	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:64034182G>A	ENST00000371088.4	+	12	1945	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	567							calcium ion binding (GO:0005509)	p.E567K(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GTCAGTTATTGAAAACAAGGT	0.333																																						uc001dbf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1699-1701)GAA>AAA		EF-hand calcium binding domain 7							112.0	108.0	109.0					1																	64034182		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:64034182G>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1699G>A	1.37:g.64034182G>A	ENSP00000360129:p.Glu567Lys						p.E567K	NM_032437	NP_115813	A8K855	EFCB7_HUMAN			12	1993	+			567					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.1699G>A	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031150	0.75504	.	.	ENSG00000203965	ENST00000371088	T	0.59772	0.24	5.67	5.67	0.87782	.	0.100084	0.64402	D	0.000002	T	0.50377	0.1612	M	0.62723	1.935	0.80722	D	1	P	0.43094	0.799	B	0.40228	0.323	T	0.58792	-0.7574	10	0.59425	D	0.04	-21.3649	19.7627	0.96329	0.0:0.0:1.0:0.0	.	567	A8K855	EFCB7_HUMAN	K	567	ENSP00000360129:E567K	ENSP00000360129:E567K	E	+	1	0	EFCAB7	63806770	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.839000	0.75364	2.661000	0.90470	0.551000	0.68910	GAA		PASS	0.333	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		10	17	10	17	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67205146	67205146	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:67205146C>A	ENST00000371037.4	+	22	2237	c.2160C>A	c.(2158-2160)ctC>ctA	p.L720L	SGIP1_ENST00000435165.2_Silent_p.L225L|SGIP1_ENST00000371035.3_Silent_p.L510L|SGIP1_ENST00000237247.6_Silent_p.L751L|SGIP1_ENST00000371039.1_Silent_p.L523L|SGIP1_ENST00000371036.3_Silent_p.L522L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	720	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Necessary and sufficient to mediate interaction with CANX. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.L523L(1)|p.L720L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CTGTGGCCCTCAACAATGTGC	0.527																																						uc001dcr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2158-2160)CTC>CTA		SH3-domain GRB2-like (endophilin) interacting							102.0	90.0	94.0					1																	67205146		2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67205146C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.2160C>A	1.37:g.67205146C>A						SGIP1_uc010opd.1_Silent_p.L320L|SGIP1_uc001dcs.2_Silent_p.L320L|SGIP1_uc001dct.2_Silent_p.L322L|SGIP1_uc009wat.2_Silent_p.L514L|SGIP1_uc001dcu.2_Silent_p.L225L	p.L720L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			22	2377	+			720					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.2160C>A	CCDS30744.1																																																																																				PASS	0.527	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		23	34	23	34	---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67390477	67390477	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:67390477G>C	ENST00000371026.3	-	1	93	c.38C>G	c.(37-39)gCc>gGc	p.A13G	MIER1_ENST00000357692.2_5'Flank|MIER1_ENST00000401041.1_5'Flank|MIER1_ENST00000371016.1_5'Flank|MIER1_ENST00000371018.3_5'Flank|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Missense_Mutation_p.A13G|MIER1_ENST00000371012.2_5'Flank|WDR78_ENST00000371022.3_Missense_Mutation_p.A13G|MIER1_ENST00000371014.1_5'Flank|MIER1_ENST00000355977.6_5'Flank	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	13					hematopoietic progenitor cell differentiation (GO:0002244)			p.A13G(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCCGTTAGCGGCTCGGGCCGA	0.682																																						uc001dcx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(37-39)GCC>GGC		WD repeat domain 78 isoform 1							76.0	82.0	80.0					1																	67390477		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67390477G>C	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.38C>G	1.37:g.67390477G>C	ENSP00000360065:p.Ala13Gly					WDR78_uc001dcy.2_Missense_Mutation_p.A13G|WDR78_uc001dcz.2_Missense_Mutation_p.A13G|MIER1_uc001dda.3_5'Flank|MIER1_uc010opf.1_5'Flank|MIER1_uc009way.2_5'Flank|MIER1_uc001ddc.2_5'Flank|MIER1_uc001ddh.2_5'Flank|MIER1_uc001ddf.2_5'Flank|MIER1_uc001ddg.2_5'Flank|MIER1_uc010opg.1_5'Flank|MIER1_uc001dde.2_5'Flank	p.A13G	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			1	94	-			13					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.38C>G	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	9.600	1.128424	0.21041	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	T;T;T	0.59364	0.27;1.96;1.18	3.71	2.8	0.32819	.	1.050960	0.07565	N	0.917660	T	0.21468	0.0517	N	0.22421	0.69	0.24255	N	0.995306	B;P;B	0.46987	0.135;0.888;0.084	B;B;B	0.36289	0.057;0.221;0.034	T	0.06844	-1.0804	10	0.59425	D	0.04	-0.2883	7.3339	0.26599	0.12:0.0:0.88:0.0	.	13;13;13	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	G	13	ENSP00000360065:A13G;ENSP00000360062:A13G;ENSP00000360061:A13G	ENSP00000360061:A13G	A	-	2	0	WDR78	67163065	0.002000	0.14202	0.003000	0.11579	0.001000	0.01503	0.897000	0.28390	1.162000	0.42619	0.561000	0.74099	GCC		PASS	0.682	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		38	39	38	39	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70477575	70477575	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:70477575T>C	ENST00000035383.5	+	10	1016	c.986T>C	c.(985-987)gTt>gCt	p.V329A	LRRC7_ENST00000310961.5_Missense_Mutation_p.V334A|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	329						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.V329A(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						ACATTAGCAGTTGATGAGAAT	0.318																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(985-987)GTT>GCT		leucine rich repeat containing 7							49.0	48.0	48.0					1																	70477575		2202	4299	6501	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70477575T>C		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.986T>C	1.37:g.70477575T>C	ENSP00000035383:p.Val329Ala					LRRC7_uc009wbg.2_5'UTR	p.V329A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			10	1016	+			329			LRR 14.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.986T>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	2.625	-0.287596	0.05605	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.25579	1.93;1.79	5.04	5.04	0.67666	.	0.065700	0.64402	D	0.000009	T	0.05273	0.0140	N	0.10874	0.06	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.19289	-1.0310	10	0.09084	T	0.74	.	13.8786	0.63670	0.0:0.0:0.0:1.0	.	329	Q96NW7	LRRC7_HUMAN	A	334;329;152	ENSP00000309245:V334A;ENSP00000035383:V329A	ENSP00000035383:V329A	V	+	2	0	LRRC7	70250163	1.000000	0.71417	0.989000	0.46669	0.703000	0.40648	5.356000	0.66052	2.012000	0.59069	0.528000	0.53228	GTT		PASS	0.318	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		16	15	16	15	---	---	---	---
NEGR1	257194	broad.mit.edu	37	1	72241934	72241934	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:72241934T>A	ENST00000357731.5	-	3	695	c.456A>T	c.(454-456)gaA>gaT	p.E152D	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.E24D|NEGR1_ENST00000434200.1_Missense_Mutation_p.E150D	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	152	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.E152D(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CGTTGGTTCCTTCATTGACGG	0.383																																						uc001dfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)GAA>GAT		neuronal growth regulator 1 precursor							113.0	102.0	106.0					1																	72241934		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72241934T>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.456A>T	1.37:g.72241934T>A	ENSP00000350364:p.Glu152Asp					NEGR1_uc001dfv.2_Missense_Mutation_p.E24D|NEGR1_uc010oqs.1_Missense_Mutation_p.E152D	p.E152D	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	3	556	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	152			Ig-like C2-type 2.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.456A>T	CCDS661.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.566667	0.45694	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.35973	1.28;1.28;1.28	5.88	3.57	0.40892	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.80183	2.485	0.53688	D	0.999974	D;P	0.89917	1.0;0.908	D;P	0.91635	0.999;0.737	T	0.53479	-0.8433	10	0.72032	D	0.01	-16.2488	9.5836	0.39504	0.0:0.142:0.0:0.858	.	150;152	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	D	152;24;150	ENSP00000350364:E152D;ENSP00000305938:E24D;ENSP00000413294:E150D	ENSP00000305938:E24D	E	-	3	2	NEGR1	72014522	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	2.197000	0.42696	0.489000	0.27749	-0.899000	0.02877	GAA		PASS	0.383	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		17	20	17	20	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74507259	74507259	+	Silent	SNP	T	T	C	rs564642226		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:74507259T>C	ENST00000395089.1	-	6	1355	c.1356A>G	c.(1354-1356)agA>agG	p.R452R	LRRIQ3_ENST00000354431.4_Silent_p.R452R			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	452								p.R452R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTACTCTAACTCTTTCTCGAG	0.318																																						uc001dfy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1354-1356)AGA>AGG		leucine-rich repeats and IQ motif containing 3							208.0	189.0	195.0					1																	74507259		1831	4087	5918	SO:0001819	synonymous_variant	127255							g.chr1:74507259T>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1356A>G	1.37:g.74507259T>C						LRRIQ3_uc001dfz.3_Intron	p.R452R	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1548	-			452					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1356A>G	CCDS41350.1																																																																																				PASS	0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		19	81	19	81	---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74671168	74671168	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:74671168G>C	ENST00000609362.1	+	4	1474	c.1437G>C	c.(1435-1437)aaG>aaC	p.K479N	FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.K492N|FPGT_ENST00000534056.1_Missense_Mutation_p.K225N|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370894.5_3'UTR|FPGT-TNNI3K_ENST00000370893.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	479					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.K479N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACTTGAAAAAGAGTGTGAAAA	0.363																																						uc001dgb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1435-1437)AAG>AAC		fucose-1-phosphate guanyltransferase							82.0	78.0	79.0					1																	74671168		2203	4300	6503	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74671168G>C	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1437G>C	1.37:g.74671168G>C	ENSP00000476680:p.Lys479Asn					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.K104N|FPGT_uc010oqu.1_Missense_Mutation_p.K225N|FPGT_uc010oqv.1_Intron	p.K479N	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	1474	+			479					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.1437G>C	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	5.656	0.305594	0.10678	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	T;T	0.30981	1.51;1.51	5.1	2.02	0.26589	L-fucokinase (1);	.	.	.	.	T	0.07324	0.0185	L	0.39147	1.195	0.09310	N	0.999999	B;B;B	0.13145	0.007;0.006;0.003	B;B;B	0.14023	0.007;0.007;0.01	T	0.41251	-0.9519	9	0.17369	T	0.5	.	5.6377	0.17546	0.0744:0.2189:0.5782:0.1285	.	225;104;479	E9PNQ2;B4E2Y7;O14772	.;.;FPGT_HUMAN	N	479;225	ENSP00000359935:K479N;ENSP00000432819:K225N	ENSP00000359935:K479N	K	+	3	2	TNNI3K	74443756	0.600000	0.26899	0.582000	0.28627	0.723000	0.41478	1.107000	0.31110	0.119000	0.18210	0.563000	0.77884	AAG		PASS	0.363	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	46	4	46	---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85486931	85486931	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:85486931C>A	ENST00000370589.2	-	12	1401	c.1349G>T	c.(1348-1350)tGc>tTc	p.C450F	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.C394F	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	450					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C450F(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AGAGAAAAGGCACTCAGAGAC	0.373																																						uc001dkp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1348-1350)TGC>TTC		mucolipin 3							77.0	79.0	78.0					1																	85486931		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85486931C>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1349G>T	1.37:g.85486931C>A	ENSP00000359621:p.Cys450Phe					MCOLN3_uc001dko.2_Missense_Mutation_p.C69F|MCOLN3_uc001dkq.2_Missense_Mutation_p.C394F	p.C450F	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	12	1442	-			450					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1349G>T	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477067	0.84640	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.69435	-0.4;-0.4	5.86	5.86	0.93980	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.83326	0.5230	M	0.86343	2.81	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	D	0.85027	0.0915	10	0.87932	D	0	-13.2779	20.2019	0.98263	0.0:1.0:0.0:0.0	.	394;450	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	F	450;450;394;394	ENSP00000359621:C450F;ENSP00000342698:C394F	ENSP00000304843:C450F	C	-	2	0	MCOLN3	85259519	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.452000	0.80683	2.776000	0.95493	0.655000	0.94253	TGC		PASS	0.373	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		30	43	30	43	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86590593	86590593	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:86590593C>T	ENST00000370571.2	-	3	1792	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E476K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	476					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.E476K(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)		TTTAGATCCTCATAATAATAA	0.338																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1426-1428)GAG>AAG		collagen, type XXIV, alpha 1 precursor							58.0	55.0	56.0					1																	86590593		1813	4078	5891	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590593C>T	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.1426G>A	1.37:g.86590593C>T	ENSP00000359603:p.Glu476Lys					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.E476K	p.E476K	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1468	-			476					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1426G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076219	0.55646	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94184	-3.37;-3.37	5.56	5.56	0.83823	.	0.000000	0.40302	N	0.001126	D	0.91650	0.7361	L	0.32530	0.975	0.52099	D	0.999947	D;P	0.63046	0.992;0.952	D;P	0.63113	0.911;0.612	D	0.88762	0.3258	10	0.10902	T	0.67	.	18.5201	0.90948	0.0:1.0:0.0:0.0	.	476;476	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	476	ENSP00000359603:E476K;ENSP00000392531:E476K	ENSP00000359603:E476K	E	-	1	0	COL24A1	86363181	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.359000	0.66074	2.615000	0.88500	0.563000	0.77884	GAG		PASS	0.338	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		23	19	23	19	---	---	---	---
GBP4	115361	broad.mit.edu	37	1	89654377	89654377	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:89654377G>A	ENST00000355754.6	-	8	1395	c.1298C>T	c.(1297-1299)aCa>aTa	p.T433I		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	433						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T433I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AATGCTTTCTGTCAGGTGCTC	0.448																																						uc001dnb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)ACA>ATA		guanylate binding protein 4							214.0	228.0	223.0					1																	89654377		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89654377G>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1298C>T	1.37:g.89654377G>A	ENSP00000359490:p.Thr433Ile						p.T433I	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	8	1414	-			433					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1298C>T	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	8.364	0.833877	0.16820	.	.	ENSG00000162654	ENST00000355754	T	0.02085	4.46	4.73	-2.2	0.06994	Guanylate-binding protein, C-terminal (3);	0.618999	0.16327	N	0.219293	T	0.00496	0.0016	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.47522	-0.9111	10	0.30854	T	0.27	.	0.7318	0.00958	0.4537:0.132:0.1701:0.2443	.	433	Q96PP9	GBP4_HUMAN	I	433	ENSP00000359490:T433I	ENSP00000359490:T433I	T	-	2	0	GBP4	89426965	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.515000	0.06290	-0.498000	0.06632	-1.110000	0.02074	ACA		PASS	0.448	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		88	191	88	191	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94502704	94502704	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:94502704T>A	ENST00000370225.3	-	25	3896	c.3810A>T	c.(3808-3810)gaA>gaT	p.E1270D		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1270					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.E1270D(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACTTTACCTCTTCCAGGGGAG	0.453																																						uc001dqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(3808-3810)GAA>GAT		ATP-binding cassette, sub-family A member 4							80.0	85.0	83.0					1																	94502704		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94502704T>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3810A>T	1.37:g.94502704T>A	ENSP00000359245:p.Glu1270Asp						p.E1270D	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	25	3914	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1270			Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.3810A>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.716833	0.89205	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.89343	-2.5	5.36	3.07	0.35406	.	0.048093	0.85682	D	0.000000	D	0.91229	0.7236	M	0.88704	2.975	0.80722	D	1	D	0.61080	0.989	P	0.59889	0.865	D	0.90752	0.4658	10	0.87932	D	0	.	7.9752	0.30151	0.0:0.2212:0.0:0.7788	.	1270	P78363	ABCA4_HUMAN	D	62;1270	ENSP00000359245:E1270D	ENSP00000359245:E1270D	E	-	3	2	ABCA4	94275292	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.245000	0.51407	0.500000	0.27991	0.459000	0.35465	GAA		PASS	0.453	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		72	81	72	81	---	---	---	---
PLPPR4	9890	broad.mit.edu	37	1	99771402	99771402	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:99771402C>T	ENST00000370185.3	+	7	1625	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	LPPR4_ENST00000457765.1_Silent_p.L318L|LPPR4_ENST00000370184.1_Silent_p.L218L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		376					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.L376L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAGGCATCCTCAACCGAAACC	0.468																																						uc001dse.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1126-1128)CTC>CTT		plasticity related gene 1							101.0	97.0	98.0					1																	99771402		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99771402C>T																												ENST00000370185.3:c.1128C>T	1.37:g.99771402C>T						LPPR4_uc010oue.1_Silent_p.L318L	p.L376L	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1234	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	376					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.1128C>T	CCDS757.1																																																																																				PASS	0.468	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			8	103	8	103	---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102270177	102270177	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:102270177C>T	ENST00000338858.5	-	6	1053	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.D332N			Q96PB7	NOE3_HUMAN	olfactomedin 3	352	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.D352N(1)|p.D332N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCGATTTCATCAGCCATTAGG	0.478																																						uc001duf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1054-1056)GAT>AAT		olfactomedin 3							86.0	74.0	78.0					1																	102270177		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102270177C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1054G>A	1.37:g.102270177C>T	ENSP00000345192:p.Asp352Asn					OLFM3_uc001dug.2_Missense_Mutation_p.D332N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.D257N|OLFM3_uc001due.2_RNA	p.D352N	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1125	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	352			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.1054G>A		.	.	.	.	.	.	.	.	.	.	C	26.3	4.724102	0.89298	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.97455	-4.39;-4.39	5.77	5.77	0.91146	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.99026	0.9667	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.994	D	0.99410	1.0930	10	0.87932	D	0	.	19.9831	0.97336	0.0:1.0:0.0:0.0	.	332;352	Q5T3V6;Q96PB7	.;NOE3_HUMAN	N	332;352	ENSP00000359121:D332N;ENSP00000345192:D352N	ENSP00000345192:D352N	D	-	1	0	OLFM3	102042765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.728000	0.93425	0.650000	0.86243	GAT		PASS	0.478	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			24	29	24	29	---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102302551	102302551	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:102302551C>A	ENST00000338858.5	-	2	159	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.V54L|OLFM3_ENST00000370103.4_Missense_Mutation_p.V34L			Q96PB7	NOE3_HUMAN	olfactomedin 3	54					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.V34L(1)|p.V54L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GAGCTGTACACCTGCCACCCT	0.473																																						uc001duf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(160-162)GTG>TTG		olfactomedin 3							78.0	72.0	74.0					1																	102302551		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102302551C>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.160G>T	1.37:g.102302551C>A	ENSP00000345192:p.Val54Leu					OLFM3_uc001dug.2_Missense_Mutation_p.V34L|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA	p.V54L	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	2	231	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	54					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.160G>T		.	.	.	.	.	.	.	.	.	.	C	25.9	4.681536	0.88542	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000359814	T;T;T	0.52526	0.66;0.66;0.66	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	L	0.55743	1.74	0.80722	D	1	B;D	0.63046	0.18;0.992	B;D	0.74348	0.174;0.983	T	0.39333	-0.9619	10	0.25751	T	0.34	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	34;54	Q5T3V6;Q96PB7	.;NOE3_HUMAN	L	34;54;54	ENSP00000359121:V34L;ENSP00000345192:V54L;ENSP00000352867:V54L	ENSP00000345192:V54L	V	-	1	0	OLFM3	102075139	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.794000	0.85869	2.937000	0.99478	0.650000	0.86243	GTG		PASS	0.473	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			4	46	4	46	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103352543	103352543	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:103352543C>A	ENST00000370096.3	-	63	4990	c.4678G>T	c.(4678-4680)Ggc>Tgc	p.G1560C	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1572C|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1444C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1521C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1560	Nonhelical region (C-terminal).				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.G1560C(1)|p.G1572C(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)		GCTTGCATGCCTTCAGTATGT	0.393																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4678-4680)GGC>TGC		alpha 1 type XI collagen isoform A							182.0	168.0	173.0					1																	103352543		2203	4300	6503	SO:0001583	missense	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.chr1:103352543C>A	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.4678G>T	1.37:g.103352543C>A	ENSP00000359114:p.Gly1560Cys					COL11A1_uc001duk.2_Missense_Mutation_p.G756C|COL11A1_uc001dum.2_Missense_Mutation_p.G1572C|COL11A1_uc001dun.2_Missense_Mutation_p.G1521C|COL11A1_uc009weh.2_Missense_Mutation_p.G1444C	p.G1560C	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	63	4996	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1560			Nonhelical region (C-terminal).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4678G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497854	0.44455	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.53	-3.55	0.04639	.	0.961406	0.08730	N	0.902175	T	0.68329	0.2989	L	0.58101	1.795	0.09310	N	0.999997	B;P;P;B;P	0.35872	0.39;0.525;0.525;0.39;0.525	B;B;B;B;B	0.39562	0.159;0.303;0.303;0.189;0.262	T	0.65553	-0.6140	10	0.44086	T	0.13	.	12.7021	0.57038	0.122:0.7274:0.0:0.1506	.	1444;1521;1572;1560;780	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	1560;1572;1521;780;1444	ENSP00000359114:G1560C;ENSP00000351163:G1572C;ENSP00000302551:G1521C;ENSP00000426533:G1444C	ENSP00000302551:G1521C	G	-	1	0	COL11A1	103125131	0.943000	0.32029	0.899000	0.35326	0.966000	0.64601	0.225000	0.17757	-0.592000	0.05851	0.313000	0.20887	GGC		PASS	0.393	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		15	86	15	86	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103428220	103428220	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:103428220C>T	ENST00000370096.3	-	39	3325	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	COL11A1_ENST00000358392.2_Missense_Mutation_p.E1017K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E889K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E966K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1005	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.E1005K(1)|p.E1017K(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)		TTTGCACCTTCTTTTCCTGCA	0.468																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3013-3015)GAA>AAA		alpha 1 type XI collagen isoform A							94.0	92.0	92.0					1																	103428220		2203	4300	6503	SO:0001583	missense	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.chr1:103428220C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3013G>A	1.37:g.103428220C>T	ENSP00000359114:p.Glu1005Lys					COL11A1_uc001duk.2_Missense_Mutation_p.E201K|COL11A1_uc001dum.2_Missense_Mutation_p.E1017K|COL11A1_uc001dun.2_Missense_Mutation_p.E966K|COL11A1_uc009weh.2_Missense_Mutation_p.E889K	p.E1005K	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	39	3331	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1005			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3013G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599667	0.87055	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94184	-3.37;-3.37;-3.27;-3.37	5.67	5.67	0.87782	.	0.112966	0.64402	D	0.000016	D	0.91898	0.7435	N	0.05351	-0.065	0.80722	D	1	P;D;D;D;D	0.71674	0.956;0.996;0.998;0.993;0.974	D;D;D;D;D	0.78314	0.931;0.987;0.991;0.971;0.969	D	0.94336	0.7566	10	0.72032	D	0.01	.	19.7741	0.96385	0.0:1.0:0.0:0.0	.	889;966;1017;1005;225	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	K	1005;1017;966;225;889	ENSP00000359114:E1005K;ENSP00000351163:E1017K;ENSP00000302551:E966K;ENSP00000426533:E889K	ENSP00000302551:E966K	E	-	1	0	COL11A1	103200808	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.987000	0.70571	2.673000	0.90976	0.557000	0.71058	GAA		PASS	0.468	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	29	7	29	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103453221	103453221	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:103453221C>A	ENST00000370096.3	-	30	2782	c.2470G>T	c.(2470-2472)Gac>Tac	p.D824Y	COL11A1_ENST00000358392.2_Missense_Mutation_p.D836Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.D708Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D785Y	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	824	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.D836Y(1)|p.D824Y(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)		GGACCTGGGTCTCCAGTTGGG	0.453																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2470-2472)GAC>TAC		alpha 1 type XI collagen isoform A							91.0	86.0	87.0					1																	103453221		2203	4300	6503	SO:0001583	missense	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.chr1:103453221C>A	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.2470G>T	1.37:g.103453221C>A	ENSP00000359114:p.Asp824Tyr					COL11A1_uc001duk.2_Missense_Mutation_p.E14D|COL11A1_uc001dum.2_Missense_Mutation_p.D836Y|COL11A1_uc001dun.2_Missense_Mutation_p.D785Y|COL11A1_uc009weh.2_Missense_Mutation_p.D708Y	p.D824Y	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	30	2788	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	824			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2470G>T	CCDS778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.73|18.73	3.685608|3.685608	0.68157|0.68157	.|.	.|.	ENSG00000060718|ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756|ENST00000370090	D;D;D;D|.	0.94330|.	-3.4;-3.4;-3.21;-3.4|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	0.122334|.	0.53938|.	D|.	0.000044|.	T|T	0.39200|0.39200	0.1069|0.1069	L|L	0.42529|0.42529	1.33|1.33	0.80722|0.80722	D|D	1|1	D;D;D;P|B	0.69078|0.18310	0.997;0.969;0.983;0.948|0.027	D;P;P;P|B	0.78314|0.20184	0.991;0.735;0.735;0.548|0.028	T|T	0.33650|0.33650	-0.9860|-0.9860	10|8	0.87932|0.13108	D|T	0|0.6	.|.	17.507|17.507	0.87748|0.87748	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	708;785;836;824|38	E9PCU0;P12107-3;P12107-2;P12107|F5H5Z5	.;.;.;COBA1_HUMAN|.	Y|D	824;836;785;708|38	ENSP00000359114:D824Y;ENSP00000351163:D836Y;ENSP00000302551:D785Y;ENSP00000426533:D708Y|.	ENSP00000302551:D785Y|ENSP00000359108:E38D	D|E	-|-	1|3	0|2	COL11A1|COL11A1	103225809|103225809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.571000|0.571000	0.35966|0.35966	7.132000|7.132000	0.77251|0.77251	2.417000|2.417000	0.82017|0.82017	0.460000|0.460000	0.39030|0.39030	GAC|GAG		PASS	0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		14	52	14	52	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109803812	109803812	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:109803812G>T	ENST00000271332.3	+	3	4168	c.4107G>T	c.(4105-4107)acG>acT	p.T1369T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1369	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T1369T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGTGACCACGCGCAGCTTCC	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(4105-4107)ACG>ACT		cadherin EGF LAG seven-pass G-type receptor 2							92.0	91.0	91.0					1																	109803812		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109803812G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4107G>T	1.37:g.109803812G>T							p.T1369T	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	3	4168	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1369			Extracellular (Potential).|Laminin G-like 1.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.4107G>T	CCDS796.1																																																																																				PASS	0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		13	52	13	52	---	---	---	---
KCNA3	3738	broad.mit.edu	37	1	111216168	111216168	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:111216168C>T	ENST00000369769.2	-	1	1487	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	422					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.D422N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GTGGGGTCGTCTGCCTCGGCA	0.557																																						uc001dzv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1264-1266)GAC>AAC		potassium voltage-gated channel, shaker-related							71.0	61.0	65.0					1																	111216168		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216168C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1264G>A	1.37:g.111216168C>T	ENSP00000358784:p.Asp422Asn						p.D422N	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1488	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	422					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1264G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816948	0.70912	.	.	ENSG00000177272	ENST00000369769	D	0.98280	-4.84	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98673	0.9555	M	0.69523	2.12	0.80722	D	1	D	0.58970	0.984	D	0.62955	0.909	D	0.99072	1.0834	10	0.59425	D	0.04	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	422	P22001	KCNA3_HUMAN	N	422	ENSP00000358784:D422N	ENSP00000358784:D422N	D	-	1	0	KCNA3	111017691	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GAC		PASS	0.557	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		24	39	24	39	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114308797	114308797	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:114308797C>A	ENST00000261441.5	-	7	2277	c.2214G>T	c.(2212-2214)agG>agT	p.R738S	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	738						nucleus (GO:0005634)		p.R738S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTTTTTATCCTCACACATT	0.413																																						uc001edq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2212-2214)AGG>AGT		round spermatid basic protein 1							221.0	204.0	210.0					1																	114308797		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114308797C>A	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2214G>T	1.37:g.114308797C>A	ENSP00000261441:p.Arg738Ser					RSBN1_uc001edr.2_RNA	p.R738S	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2250	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	738					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.2214G>T	CCDS862.1	.	.	.	.	.	.	.	.	.	.	C	9.645	1.139994	0.21205	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.74	-2.44	0.06502	.	0.183302	0.49305	D	0.000157	T	0.01489	0.0048	N	0.00538	-1.39	0.19300	N	0.999979	B	0.06786	0.001	B	0.06405	0.002	T	0.43278	-0.9401	9	0.21014	T	0.42	-10.084	1.4109	0.02291	0.2309:0.2542:0.0943:0.4206	.	738	Q5VWQ0	RSBN1_HUMAN	S	738	.	ENSP00000261441:R738S	R	-	3	2	RSBN1	114110320	0.373000	0.25073	0.646000	0.29493	0.998000	0.95712	0.036000	0.13819	-0.123000	0.11745	0.563000	0.77884	AGG		PASS	0.413	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		26	57	26	57	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114310948	114310948	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:114310948G>C	ENST00000261441.5	-	5	1785	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	574						nucleus (GO:0005634)		p.L574L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATCTTCAAAGAGAACTTCGC	0.438																																						uc001edq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1720-1722)CTC>CTG		round spermatid basic protein 1							127.0	123.0	125.0					1																	114310948		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114310948G>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1722C>G	1.37:g.114310948G>C						RSBN1_uc001edr.2_RNA	p.L574L	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1758	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	574					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.1722C>G	CCDS862.1																																																																																				PASS	0.438	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		13	76	13	76	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114970445	114970445	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:114970445C>T	ENST00000358465.2	-	7	1310	c.1227G>A	c.(1225-1227)gtG>gtA	p.V409V	TRIM33_ENST00000369543.2_Silent_p.V409V|TRIM33_ENST00000450349.2_Silent_p.V17V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	409					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V409V(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		TAACATGCTTCACCTGCCGGG	0.433			T	RET	papillary thyroid																																	uc001eew.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		1	Substitution - coding silent(1)		lung(1)	lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11						c.(1225-1227)GTG>GTA		tripartite motif-containing 33 protein isoform							148.0	134.0	138.0					1																	114970445		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114970445C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1227G>A	1.37:g.114970445C>T						TRIM33_uc010owr.1_Silent_p.V17V|TRIM33_uc010ows.1_Silent_p.V17V|TRIM33_uc001eex.2_Silent_p.V409V	p.V409V	NM_015906	NP_056990	Q9UPN9	TRI33_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)	7	1311	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	409					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1227G>A	CCDS872.1																																																																																				PASS	0.433	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		19	23	19	23	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120509091	120509091	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:120509091T>C	ENST00000256646.2	-	9	1694	c.1475A>G	c.(1474-1476)gAa>gGa	p.E492G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	492	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.E492G(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATTTCTAATTCACAATGCAC	0.418			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1474-1476)GAA>GGA		notch 2 preproprotein							198.0	172.0	181.0					1																	120509091		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120509091T>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1475A>G	1.37:g.120509091T>C	ENSP00000256646:p.Glu492Gly					NOTCH2_uc001eil.2_Missense_Mutation_p.E492G|NOTCH2_uc001eim.3_Missense_Mutation_p.E409G	p.E492G	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1731	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	492			Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1475A>G	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.856017	0.91355	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.83250	-1.7	5.73	5.73	0.89815	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38436	U	0.001684	D	0.90717	0.7087	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.946;0.941	D	0.91038	0.4869	10	0.42905	T	0.14	.	15.2141	0.73250	0.0:0.0:0.0:1.0	.	453;492;492	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	G	492;453	ENSP00000256646:E492G	ENSP00000256646:E492G	E	-	2	0	NOTCH2	120310614	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	5.713000	0.68415	2.197000	0.70478	0.533000	0.62120	GAA		PASS	0.418	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		28	59	28	59	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415320	145415320	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:145415320G>C	ENST00000336751.5	+	3	377	c.139G>C	c.(139-141)Gta>Cta	p.V47L	HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	47					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.V47L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCTGAGTACGTATCGTCCAC	0.582																																						uc001eni.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(139-141)GTA>CTA		hemojuvelin isoform a precursor							94.0	91.0	92.0					1																	145415320		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145415320G>C	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.139G>C	1.37:g.145415320G>C	ENSP00000337014:p.Val47Leu					NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron	p.V47L	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN			3	464	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		47					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.139G>C	CCDS910.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521070	0.27211	.	.	ENSG00000168509	ENST00000421822;ENST00000336751	D;D	0.97598	-2.6;-4.45	4.72	4.72	0.59763	Repulsive guidance molecule, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.96673	0.8914	L	0.60845	1.875	0.80722	D	1	D	0.60160	0.987	P	0.61003	0.882	D	0.95199	0.8315	10	0.22706	T	0.39	-23.5625	15.2328	0.73404	0.0:0.0:1.0:0.0	.	47	Q6ZVN8	RGMC_HUMAN	L	47	ENSP00000411863:V47L;ENSP00000337014:V47L	ENSP00000337014:V47L	V	+	1	0	HFE2	144126677	0.003000	0.15002	0.275000	0.24674	0.938000	0.57974	0.849000	0.27723	2.448000	0.82819	0.552000	0.68991	GTA		PASS	0.582	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		7	69	7	69	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147084987	147084987	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:147084987C>G	ENST00000234739.3	+	5	1099	c.359C>G	c.(358-360)tCt>tGt	p.S120C	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	120					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.S120C(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AACGATGACTCTGACATTAAA	0.498			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(358-360)TCT>TGT		B-cell CLL/lymphoma 9							43.0	48.0	46.0					1																	147084987		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147084987C>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.359C>G	1.37:g.147084987C>G	ENSP00000234739:p.Ser120Cys					BCL9_uc010ozr.1_Intron	p.S120C	NM_004326	NP_004317	O00512	BCL9_HUMAN			5	1099	+	all_hematologic(923;0.115)		120					Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.359C>G	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410864	0.42817	.	.	ENSG00000116128	ENST00000234739	T	0.57752	0.38	5.4	4.46	0.54185	.	0.455087	0.24278	N	0.039934	T	0.28797	0.0714	L	0.29908	0.895	0.35427	D	0.79375	P	0.51653	0.947	B	0.40101	0.319	T	0.28964	-1.0027	10	0.72032	D	0.01	-8.3032	16.0459	0.80720	0.0:0.8656:0.1343:0.0	.	120	O00512	BCL9_HUMAN	C	120	ENSP00000234739:S120C	ENSP00000234739:S120C	S	+	2	0	BCL9	145551611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.587000	0.60991	1.442000	0.47568	0.655000	0.94253	TCT		PASS	0.498	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		10	35	10	35	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152058373	152058373	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:152058373C>T	ENST00000368806.1	-	3	1849	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	595							calcium ion binding (GO:0005509)	p.Q595Q(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCCTGCCTCTGGGTATCTG	0.547																																						uc001ezo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1783-1785)CAG>CAA		trichohyalin-like 1							136.0	131.0	133.0					1																	152058373		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152058373C>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1785G>A	1.37:g.152058373C>T							p.Q595Q	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1850	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		595					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.1785G>A	CCDS30857.1																																																																																				PASS	0.547	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		30	75	30	75	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152129161	152129161	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:152129161C>T	ENST00000316073.3	-	3	478	c.414G>A	c.(412-414)gaG>gaA	p.E138E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	138	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E138E(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CGTCTTGTCTCTCAGGCTGAC	0.522																																						uc001ezs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(412-414)GAG>GAA		repetin							552.0	461.0	489.0					1																	152129161		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129161C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.414G>A	1.37:g.152129161C>T							p.E138E	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	479	-			138			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.414G>A	CCDS41397.1																																																																																				PASS	0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		64	170	64	170	---	---	---	---
SYT11	23208	broad.mit.edu	37	1	155838213	155838213	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:155838213A>G	ENST00000368324.4	+	2	745	c.492A>G	c.(490-492)tcA>tcG	p.S164S	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	164					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.S164S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCACCTTCTCAGTGGACTATA	0.542																																						uc001fmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(490-492)TCA>TCG		synaptotagmin XI							69.0	69.0	69.0					1																	155838213		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838213A>G	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.492A>G	1.37:g.155838213A>G						SYT11_uc010pgq.1_Intron	p.S164S	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	755	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		164			Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.492A>G	CCDS1122.1																																																																																				PASS	0.542	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		14	79	14	79	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157665335	157665335	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:157665335G>A	ENST00000368184.3	-	8	1486	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.L399L|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	399	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L399V(1)|p.L399L(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCTCCAGCAGGTCCCCCACC	0.587																																						uc001frb.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		upper_aerodigestive_tract(1)|lung(1)	ovary(3)|breast(1)	4						c.(1195-1197)CTG>TTG		Fc receptor-like 3 precursor							47.0	49.0	48.0					1																	157665335		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665335G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1195C>T	1.37:g.157665335G>A						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.L399L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.L125L|FCRL3_uc001frc.1_Silent_p.L399L	p.L399L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			8	1487	-	all_hematologic(112;0.0378)		399			Ig-like C2-type 5.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1195C>T	CCDS1167.1																																																																																				PASS	0.587	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		20	47	20	47	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576522	158576523	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:158576522_158576523TG>CT	ENST00000361284.1	+	1	294_295	c.294_295TG>CT	c.(292-297)gcTGcc>gcCTcc	p.A99S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A99S(2)|p.A98A(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGGGCTGTGCTGCCCAGATGTT	0.545																																						uc010pio.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	pancreas(1)|skin(1)	2						c.(292-294)GCT>GCC|c.(295-297)GCC>TCC		olfactory receptor, family 10, subfamily Z,																																				SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576522T>C|g.chr1:158576523G>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	Exception_encountered	1.37:g.158576522_158576523delinsCT	ENSP00000354707:p.Ala99Ser						p.A98A|p.A99S	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	294|295	+	all_hematologic(112;0.0378)		98|99			Extracellular (Potential).		Q5VYL0|Q6IFR7	Silent|Missense_Mutation	SNP	ENST00000361284.1	37	c.294T>C|c.295G>T	CCDS30901.1																																																																																				PASS	0.545	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		27	87|85	27	85	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158592826	158592826	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:158592826C>G	ENST00000368147.4	-	43	6247	c.6067G>C	c.(6067-6069)Gcc>Ccc	p.A2023P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2023					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.A2023P(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)					ACTGCCGAGGCTTCCAGCAAC	0.458																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6067-6069)GCC>CCC		spectrin, alpha, erythrocytic 1							197.0	198.0	198.0					1																	158592826		1931	4130	6061	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.chr1:158592826C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6067G>C	1.37:g.158592826C>G	ENSP00000357129:p.Ala2023Pro						p.A2023P	NM_003126	NP_003117	P02549	SPTA1_HUMAN			43	6266	-	all_hematologic(112;0.0378)		2023			Spectrin 19.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6067G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	8.117	0.780005	0.16120	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54071	0.59;0.59	4.78	3.84	0.44239	.	.	.	.	.	T	0.33177	0.0854	M	0.62016	1.91	0.39497	D	0.968134	B	0.21225	0.053	B	0.30316	0.114	T	0.28138	-1.0053	9	0.30854	T	0.27	.	6.8604	0.24064	0.0:0.7521:0.0:0.2479	.	2023	P02549	SPTA1_HUMAN	P	2023;2020	ENSP00000357130:A2023P;ENSP00000357129:A2020P	ENSP00000357129:A2020P	A	-	1	0	SPTA1	156859450	1.000000	0.71417	0.956000	0.39512	0.138000	0.21146	3.494000	0.53273	2.481000	0.83766	0.655000	0.94253	GCC		PASS	0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		42	155	42	155	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158615329	158615329	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:158615329C>A	ENST00000368147.4	-	28	4132	c.3952G>T	c.(3952-3954)Gcc>Tcc	p.A1318S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1318					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.A1318S(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)					AAGTCTTCGGCCAGCTCCTGT	0.433																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3952-3954)GCC>TCC		spectrin, alpha, erythrocytic 1							159.0	157.0	158.0					1																	158615329		2024	4167	6191	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.chr1:158615329C>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.3952G>T	1.37:g.158615329C>A	ENSP00000357129:p.Ala1318Ser						p.A1318S	NM_003126	NP_003117	P02549	SPTA1_HUMAN			28	4151	-	all_hematologic(112;0.0378)		1318			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3952G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825948	0.90955	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.32753	1.44;1.44	5.07	5.07	0.68467	.	.	.	.	.	T	0.52322	0.1727	M	0.85373	2.75	0.58432	D	0.999997	D	0.67145	0.996	D	0.72075	0.976	T	0.53158	-0.8478	9	0.39692	T	0.17	.	17.2029	0.86910	0.0:1.0:0.0:0.0	.	1318	P02549	SPTA1_HUMAN	S	1318	ENSP00000357130:A1318S;ENSP00000357129:A1318S	ENSP00000357129:A1318S	A	-	1	0	SPTA1	156881953	1.000000	0.71417	0.991000	0.47740	0.941000	0.58515	5.234000	0.65343	2.635000	0.89317	0.655000	0.94253	GCC		PASS	0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		16	109	16	109	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158624460	158624460	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:158624460G>T	ENST00000368147.4	-	21	3157	c.2977C>A	c.(2977-2979)Ccc>Acc	p.P993T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	993	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.P993T(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)					ACTTCTCGGGGGCTGCGGGCC	0.473																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2977-2979)CCC>ACC		spectrin, alpha, erythrocytic 1							80.0	81.0	81.0					1																	158624460		1952	4135	6087	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.chr1:158624460G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2977C>A	1.37:g.158624460G>T	ENSP00000357129:p.Pro993Thr						p.P993T	NM_003126	NP_003117	P02549	SPTA1_HUMAN			21	3176	-	all_hematologic(112;0.0378)		993			SH3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2977C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205288	0.39003	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.31769	1.48;1.48	5.22	-1.62	0.08372	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	2.861760	0.01788	N	0.032155	T	0.13114	0.0318	L	0.56280	1.765	0.30707	N	0.749693	B	0.18968	0.032	B	0.32724	0.151	T	0.18840	-1.0324	10	0.35671	T	0.21	.	3.2522	0.06819	0.1357:0.1015:0.4488:0.314	.	993	P02549	SPTA1_HUMAN	T	993	ENSP00000357130:P993T;ENSP00000357129:P993T	ENSP00000357129:P993T	P	-	1	0	SPTA1	156891084	1.000000	0.71417	0.013000	0.15412	0.982000	0.71751	2.101000	0.41787	-0.185000	0.10550	0.591000	0.81541	CCC		PASS	0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	31	9	31	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158648259	158648259	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:158648259G>T	ENST00000368147.4	-	6	924	c.744C>A	c.(742-744)cgC>cgA	p.R248R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	248					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.R248R(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)					AACCACGAAGGCGCTCCCAGG	0.448																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(742-744)CGC>CGA		spectrin, alpha, erythrocytic 1							96.0	90.0	92.0					1																	158648259		1881	4112	5993	SO:0001819	synonymous_variant	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.chr1:158648259G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.744C>A	1.37:g.158648259G>T							p.R248R	NM_003126	NP_003117	P02549	SPTA1_HUMAN			6	943	-	all_hematologic(112;0.0378)		248			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.744C>A	CCDS41423.1																																																																																				PASS	0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		23	51	23	51	---	---	---	---
OR6N2	81442	broad.mit.edu	37	1	158747070	158747070	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:158747070G>T	ENST00000339258.1	-	1	355	c.356C>A	c.(355-357)gCc>gAc	p.A119D		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A119D(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCTATCATAGGCCATGGCTGT	0.498																																						uc010pir.1																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)GCC>GAC		olfactory receptor, family 6, subfamily N,							101.0	102.0	102.0					1																	158747070		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747070G>T	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.356C>A	1.37:g.158747070G>T	ENSP00000344101:p.Ala119Asp						p.A119D	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	356	-	all_hematologic(112;0.0378)		119			Helical; Name=3; (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.356C>A	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642697	0.87859	.	.	ENSG00000188340	ENST00000339258	T	0.13538	2.58	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38217	N	0.001764	T	0.51109	0.1655	H	0.98577	4.27	0.51482	D	0.999921	D	0.89917	1.0	D	0.87578	0.998	T	0.71397	-0.4605	10	0.87932	D	0	-18.1768	17.5939	0.88005	0.0:0.0:1.0:0.0	.	119	Q8NGY6	OR6N2_HUMAN	D	119	ENSP00000344101:A119D	ENSP00000344101:A119D	A	-	2	0	OR6N2	157013694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.686000	0.91538	0.650000	0.86243	GCC		PASS	0.498	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			17	84	17	84	---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158813875	158813875	+	Missense_Mutation	SNP	C	C	A	rs148142374	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:158813875C>A	ENST00000368141.4	+	4	794	c.533C>A	c.(532-534)aCc>aAc	p.T178N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	178					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T178N(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CTACCCCAGACCTCATCATCA	0.507																																						uc001fsz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(532-534)ACC>AAC		myeloid cell nuclear differentiation antigen							277.0	226.0	243.0					1																	158813875		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813875C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.533C>A	1.37:g.158813875C>A	ENSP00000357123:p.Thr178Asn						p.T178N	NM_002432	NP_002423	P41218	MNDA_HUMAN			4	733	+	all_hematologic(112;0.0378)		178						Missense_Mutation	SNP	ENST00000368141.4	37	c.533C>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	6.908	0.537194	0.13188	.	.	ENSG00000163563	ENST00000368141	T	0.05382	3.45	2.94	-4.0	0.04057	.	1.996250	0.03071	N	0.157234	T	0.02649	0.0080	L	0.54323	1.7	0.09310	N	1	P	0.50617	0.937	B	0.40329	0.326	T	0.38394	-0.9663	10	0.54805	T	0.06	0.1813	10.0435	0.42173	0.0:0.6647:0.0:0.3353	.	178	P41218	MNDA_HUMAN	N	178	ENSP00000357123:T178N	ENSP00000357123:T178N	T	+	2	0	MNDA	157080499	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.086000	0.01361	-0.987000	0.03494	-0.471000	0.05019	ACC		PASS	0.507	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		24	159	24	159	---	---	---	---
ITLN2	142683	broad.mit.edu	37	1	160920953	160920953	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:160920953C>A	ENST00000368029.3	-	4	378	c.321G>T	c.(319-321)acG>acT	p.T107T	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'Flank	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	107	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.T107T(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GATCACCCACCGTGCACTTCC	0.592																																						uc001fxd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(319-321)ACG>ACT		intelectin 2 precursor							156.0	131.0	140.0					1																	160920953		2203	4300	6503	SO:0001819	synonymous_variant	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160920953C>A	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.321G>T	1.37:g.160920953C>A						ITLN2_uc009wts.2_Silent_p.T106T|ITLN2_uc010pju.1_Silent_p.T24T	p.T107T	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	379	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		107			Fibrinogen C-terminal.		Q17RR2|Q5VYI0	Silent	SNP	ENST00000368029.3	37	c.321G>T	CCDS1212.1																																																																																				PASS	0.592	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		36	52	36	52	---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161967803	161967803	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:161967803G>A	ENST00000294794.3	-	6	1709	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P430L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	429					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.P429L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGGGGCTGCTGGTTGCTGGGT	0.607																																						uc001gbu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1285-1287)CCA>CTA		olfactomedin-like 2B precursor							97.0	92.0	94.0					1																	161967803		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161967803G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1286C>T	1.37:g.161967803G>A	ENSP00000294794:p.Pro429Leu					OLFML2B_uc010pkq.1_Missense_Mutation_p.P430L	p.P429L	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1710	-	all_hematologic(112;0.156)		429					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1286C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482251	0.26598	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.87029	-2.2;-2.2	4.76	2.7	0.31948	.	.	.	.	.	T	0.64011	0.2560	N	0.19112	0.55	0.26686	N	0.971453	B;B	0.14012	0.007;0.009	B;B	0.14023	0.007;0.01	T	0.53641	-0.8410	8	0.87932	D	0	.	8.6127	0.33813	0.2089:0.0:0.7911:0.0	.	430;429	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	L	429;430	ENSP00000294794:P429L;ENSP00000356917:P430L	ENSP00000294794:P429L	P	-	2	0	OLFML2B	160234427	0.410000	0.25376	0.002000	0.10522	0.010000	0.07245	1.297000	0.33400	0.483000	0.27608	0.462000	0.41574	CCA		PASS	0.607	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		14	30	14	30	---	---	---	---
PBX1	5087	broad.mit.edu	37	1	164776878	164776878	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:164776878G>T	ENST00000420696.2	+	5	989	c.801G>T	c.(799-801)gaG>gaT	p.E267D	PBX1_ENST00000560641.1_Missense_Mutation_p.E162D|PBX1_ENST00000559240.1_Missense_Mutation_p.E267D|PBX1_ENST00000367897.1_Missense_Mutation_p.E267D|PBX1_ENST00000401534.1_Missense_Mutation_p.E267D|PBX1_ENST00000540236.1_Missense_Mutation_p.E267D|PBX1_ENST00000540246.1_Missense_Mutation_p.E162D	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	267					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)|transcription factor binding (GO:0008134)	p.E267D(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AAGCCAAAGAGGAGTTAGCCA	0.542			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	uc001gct.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|lung(1)|skin(1)	5						c.(799-801)GAG>GAT		pre-B-cell leukemia homeobox 1							142.0	149.0	147.0					1																	164776878		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164776878G>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.801G>T	1.37:g.164776878G>T	ENSP00000405890:p.Glu267Asp					PBX1_uc010pku.1_Missense_Mutation_p.E267D|PBX1_uc010pkv.1_Missense_Mutation_p.E184D|PBX1_uc001gcs.2_Missense_Mutation_p.E267D|PBX1_uc010pkw.1_Missense_Mutation_p.E157D	p.E267D	NM_002585	NP_002576	P40424	PBX1_HUMAN			5	1059	+			267			Homeobox; TALE-type.		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.801G>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049637	0.93740	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14	5.6	5.6	0.85130	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96722	0.8930	L	0.53249	1.67	.	.	.	P;P;B;P;P	0.50943	0.558;0.88;0.33;0.94;0.88	P;D;P;D;P	0.66497	0.47;0.93;0.601;0.944;0.876	D	0.97294	0.9926	9	0.66056	D	0.02	-19.2543	13.8737	0.63638	0.0748:0.0:0.9252:0.0	.	162;267;267;267;267	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	D	267;267;267;267;162	ENSP00000405890:E267D;ENSP00000356872:E267D;ENSP00000439943:E267D;ENSP00000384856:E267D;ENSP00000440869:E162D	ENSP00000356872:E267D	E	+	3	2	PBX1	163043502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.306000	0.59117	2.615000	0.88500	0.650000	0.86243	GAG		PASS	0.542	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		24	146	24	146	---	---	---	---
ILDR2	387597	broad.mit.edu	37	1	166891994	166891994	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:166891994G>A	ENST00000271417.3	-	8	1102	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	ILDR2_ENST00000525740.1_Silent_p.F222F|ILDR2_ENST00000469934.2_Silent_p.F349F|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Silent_p.F290F|ILDR2_ENST00000526687.1_Silent_p.F241F|ILDR2_ENST00000529071.1_Silent_p.F330F	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	349					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.F349F(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAGACTGGCGGAAATTGCTGT	0.488																																						uc001gdx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1045-1047)TTC>TTT		immunoglobulin-like domain containing receptor							153.0	144.0	147.0					1																	166891994		2203	4300	6503	SO:0001819	synonymous_variant	387597					integral to membrane		g.chr1:166891994G>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1047C>T	1.37:g.166891994G>A							p.F349F	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			8	1103	-			349			Cytoplasmic (Potential).			Silent	SNP	ENST00000271417.3	37	c.1047C>T	CCDS1256.1																																																																																				PASS	0.488	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		32	99	32	99	---	---	---	---
SUCO	51430	broad.mit.edu	37	1	172520690	172520690	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:172520690C>T	ENST00000263688.3	+	2	320	c.101C>T	c.(100-102)tCa>tTa	p.S34L	SUCO_ENST00000610051.1_Missense_Mutation_p.S34L|SUCO_ENST00000608151.1_Missense_Mutation_p.S230L|SUCO_ENST00000367723.4_Missense_Mutation_p.S229L	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	34					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.S34*(1)|p.S230L(1)|p.S230*(1)|p.S34L(1)									GAGAGTTCTTCAGCTTCAGCG	0.383																																						uc001giq.3																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(4)	ovary(2)	2						c.(100-102)TCA>TTA		chromosome 1 open reading frame 9 protein							107.0	101.0	103.0					1																	172520690		2203	4300	6503	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172520690C>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.101C>T	1.37:g.172520690C>T	ENSP00000263688:p.Ser34Leu					C1orf9_uc010pmm.1_Missense_Mutation_p.S34L|C1orf9_uc009wwd.2_Missense_Mutation_p.S34L|C1orf9_uc010pmn.1_Missense_Mutation_p.S34L|C1orf9_uc010pmo.1_RNA	p.S34L	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	2	417	+		Breast(1374;0.212)	34					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.101C>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422793	0.83559	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.18759	0.0450	N	0.20986	0.625	0.38859	D	0.956431	B;B;B;B	0.34103	0.19;0.437;0.295;0.295	B;B;B;B	0.32090	0.1;0.14;0.1;0.1	T	0.09164	-1.0687	8	0.02654	T	1	-6.712	15.5173	0.75833	0.0:1.0:0.0:0.0	.	34;34;230;34	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	L	230;34	.	ENSP00000263688:S34L	S	+	2	0	C1orf9	170787313	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.253000	0.43205	2.723000	0.93209	0.585000	0.79938	TCA		PASS	0.383	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		10	30	10	30	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173503744	173503744	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:173503744A>C	ENST00000367714.3	-	16	2275	c.1853T>G	c.(1852-1854)tTg>tGg	p.L618W	SLC9C2_ENST00000536496.1_Intron|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	618					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.L618W(1)									AATATATATCAAATTTATAAT	0.254																																						uc001giz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1852-1854)TTG>TGG		solute carrier family 9, member 11							21.0	24.0	23.0					1																	173503744		2124	4144	6268	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173503744A>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1853T>G	1.37:g.173503744A>C	ENSP00000356687:p.Leu618Trp					SLC9A11_uc009wwe.2_Missense_Mutation_p.L176W|SLC9A11_uc010pmq.1_Intron	p.L618W	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			16	2276	-			618			Helical; (Potential).		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1853T>G	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.008876	0.35415	.	.	ENSG00000162753	ENST00000367714	T	0.05717	3.4	5.76	5.76	0.90799	.	1.773840	0.03120	N	0.163670	T	0.09730	0.0239	L	0.39898	1.24	0.51012	D	0.999903	D	0.69078	0.997	P	0.57283	0.817	T	0.00520	-1.1692	10	0.66056	D	0.02	-0.8618	12.466	0.55759	1.0:0.0:0.0:0.0	.	618	Q5TAH2	S9A11_HUMAN	W	618	ENSP00000356687:L618W	ENSP00000356687:L618W	L	-	2	0	SLC9A11	171770367	0.049000	0.20398	0.003000	0.11579	0.020000	0.10135	4.341000	0.59335	2.197000	0.70478	0.496000	0.49642	TTG		PASS	0.254	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		6	11	6	11	---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173881102	173881102	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:173881102G>C	ENST00000367698.3	-	3	577	c.459C>G	c.(457-459)ttC>ttG	p.F153L	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	153			Missing (in AT3D; type-I).|Missing (in AT3D; type-I). {ECO:0000269|PubMed:11794707}.		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.F153L(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)	TGGCAAAGAAGAAGTGGATCT	0.408																																						uc001gjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(457-459)TTC>TTG		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						210.0	192.0	198.0					1																	173881102		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.chr1:173881102G>C	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.459C>G	1.37:g.173881102G>C	ENSP00000356671:p.Phe153Leu						p.F153L	NM_000488	NP_000479	P01008	ANT3_HUMAN			3	578	-			153		Missing (in AT3D; type-I).|Missing (in AT3D; type-I).			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.459C>G	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691675	0.68271	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.83914	-1.78	5.66	2.43	0.29744	Serpin domain (3);	0.043870	0.85682	D	0.000000	T	0.74122	0.3675	L	0.47190	1.495	0.54753	D	0.999983	D	0.63880	0.993	P	0.56823	0.807	T	0.71377	-0.4611	10	0.11485	T	0.65	.	11.5378	0.50648	0.1876:0.0:0.8124:0.0	.	153	P01008	ANT3_HUMAN	L	153	ENSP00000356671:F153L	ENSP00000307953:F153L	F	-	3	2	SERPINC1	172147725	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.043000	0.41231	0.173000	0.19788	0.591000	0.81541	TTC		PASS	0.408	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		26	56	26	56	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372675	175372675	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:175372675C>A	ENST00000367674.2	-	4	1285	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	TNR_ENST00000263525.2_Missense_Mutation_p.G193C			Q92752	TENR_HUMAN	tenascin R	193	Cys-rich.|EGF-like 1.				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.G193C(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)					CCAAACCAGCCTTCGTTGCAG	0.572																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(577-579)GGC>TGC		tenascin R precursor							83.0	88.0	86.0					1																	175372675		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372675C>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.577G>T	1.37:g.175372675C>A	ENSP00000356646:p.Gly193Cys					TNR_uc009wwu.1_Missense_Mutation_p.G193C|TNR_uc010pmz.1_Missense_Mutation_p.G193C	p.G193C	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	658	-	Renal(580;0.146)		193			EGF-like 1.|Cys-rich.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.577G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397895	0.83120	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.14640	2.49;2.49	6.17	5.27	0.74061	EGF-like region, conserved site (2);	0.106321	0.64402	D	0.000004	T	0.51652	0.1687	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68957	-0.5272	10	0.87932	D	0	.	15.0983	0.72253	0.0:0.9322:0.0:0.0678	.	193;193	B4DIX8;Q92752	.;TENR_HUMAN	C	193	ENSP00000356646:G193C;ENSP00000263525:G193C	ENSP00000263525:G193C	G	-	1	0	TNR	173639298	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.973000	0.70456	1.633000	0.50488	0.655000	0.94253	GGC		PASS	0.572	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		13	92	13	92	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175375662	175375662	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:175375662C>A	ENST00000367674.2	-	3	897	c.189G>T	c.(187-189)gtG>gtT	p.V63V	TNR_ENST00000263525.2_Silent_p.V63V			Q92752	TENR_HUMAN	tenascin R	63					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.V63V(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)					GGTTGAAGACCACAGGCTGCT	0.552																																						uc001gkp.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(187-189)GTG>GTT		tenascin R precursor							267.0	224.0	239.0					1																	175375662		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375662C>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.189G>T	1.37:g.175375662C>A						TNR_uc009wwu.1_Silent_p.V63V|TNR_uc010pmz.1_Silent_p.V63V	p.V63V	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	270	-	Renal(580;0.146)		63					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.189G>T	CCDS1318.1																																																																																				PASS	0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		17	71	17	71	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176760590	176760590	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:176760590G>T	ENST00000367662.3	+	19	6156	c.4992G>T	c.(4990-4992)gaG>gaT	p.E1664D		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1664	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1664D(1)|p.V1663fs*17(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATTCTGTGGAGTACAAATGTG	0.418																																						uc001gkz.2																			2	Substitution - Missense(1)|Deletion - Frameshift(1)		ovary(1)|lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4990-4992)GAG>GAT		pappalysin 2 isoform 1							87.0	86.0	86.0					1																	176760590		1888	4112	6000	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176760590G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4992G>T	1.37:g.176760590G>T	ENSP00000356634:p.Glu1664Asp					PAPPA2_uc009www.2_RNA	p.E1664D	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			19	6156	+			1664			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4992G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833478	0.16820	.	.	ENSG00000116183	ENST00000367662	T	0.01725	4.67	5.4	1.39	0.22231	.	0.057087	0.64402	D	0.000002	T	0.02533	0.0077	M	0.66939	2.045	0.80722	D	1	B	0.33345	0.409	B	0.30646	0.118	T	0.51601	-0.8685	10	0.56958	D	0.05	-25.3336	8.5456	0.33419	0.3228:0.0:0.6772:0.0	.	1664	Q9BXP8	PAPP2_HUMAN	D	1664	ENSP00000356634:E1664D	ENSP00000356634:E1664D	E	+	3	2	PAPPA2	175027213	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	1.350000	0.34010	0.259000	0.21709	-0.150000	0.13652	GAG		PASS	0.418	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			19	49	19	49	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180062650	180062650	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:180062650C>T	ENST00000367607.3	+	34	7828	c.7410C>T	c.(7408-7410)cgC>cgT	p.R2470R	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2470					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R2470R(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						GTAAGGAGCGCAGTGATGTGG	0.453																																						uc001gnt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(7408-7410)CGC>CGT		centrosome-associated protein 350							66.0	50.0	56.0					1																	180062650		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180062650C>T	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.7410C>T	1.37:g.180062650C>T						CEP350_uc009wxl.2_Silent_p.R2469R|CEP350_uc001gnv.2_Silent_p.R605R|CEP350_uc001gnw.1_Silent_p.R227R|CEP350_uc001gnx.1_Silent_p.R227R	p.R2470R	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			34	7793	+			2470					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.7410C>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	6.310	0.425341	0.11987	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.8	1.62	0.23740	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8265	0.23887	0.0:0.5838:0.1322:0.284	.	.	.	.	X	645	.	.	Q	+	1	0	CEP350	178329273	0.999000	0.42202	0.999000	0.59377	0.976000	0.68499	0.566000	0.23593	0.775000	0.33450	0.655000	0.94253	CAG		PASS	0.453	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		9	24	9	24	---	---	---	---
QSOX1	5768	broad.mit.edu	37	1	180163490	180163490	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:180163490C>T	ENST00000367602.3	+	11	1505	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L	QSOX1_ENST00000367600.5_Silent_p.L477L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	477	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.L477L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCCTCTGGCTCTGGTCTAGCC	0.612																																						uc001gnz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1429-1431)CTC>CTT		quiescin Q6 sulfhydryl oxidase 1 isoform a							56.0	50.0	52.0					1																	180163490		2203	4300	6503	SO:0001819	synonymous_variant	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180163490C>T	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1431C>T	1.37:g.180163490C>T						QSOX1_uc001gny.2_Silent_p.L477L|QSOX1_uc001goa.2_Silent_p.L477L|QSOX1_uc001goc.2_Silent_p.L19L	p.L477L	NM_002826	NP_002817	O00391	QSOX1_HUMAN			11	1506	+			477			ERV/ALR sulfhydryl oxidase.		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	c.1431C>T	CCDS1337.1																																																																																				PASS	0.612	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		7	20	7	20	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181549846	181549846	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:181549846C>A	ENST00000367573.2	+	6	885	c.885C>A	c.(883-885)atC>atA	p.I295I	CACNA1E_ENST00000358338.5_Silent_p.I246I|CACNA1E_ENST00000357570.5_Silent_p.I246I|CACNA1E_ENST00000360108.3_Silent_p.I295I|CACNA1E_ENST00000367570.1_Silent_p.I295I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Silent_p.I295I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	295					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.I295I(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGATAACATCCTTTTTGCTG	0.547																																						uc001gow.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(883-885)ATC>ATA		calcium channel, voltage-dependent, R type,							137.0	138.0	138.0					1																	181549846		2055	4204	6259	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181549846C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.885C>A	1.37:g.181549846C>A						CACNA1E_uc009wxr.2_Silent_p.I202I|CACNA1E_uc009wxs.2_Silent_p.I202I	p.I295I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			6	1050	+			295			I.|Extracellular (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.885C>A	CCDS55664.1																																																																																				PASS	0.547	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		12	62	12	62	---	---	---	---
COLGALT2	23127	broad.mit.edu	37	1	183907946	183907946	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:183907946G>A	ENST00000361927.4	-	12	2201	c.1830C>T	c.(1828-1830)gcC>gcT	p.A610A	COLGALT2_ENST00000367520.3_Silent_p.A347A|COLGALT2_ENST00000367521.1_Silent_p.A218A|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000546159.1_Intron	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	610					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.A610A(1)									GCGGTGGCAGGGCCTCTGTGT	0.562																																						uc001gqr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1828-1830)GCC>GCT		glycosyltransferase 25 domain containing 2							191.0	161.0	171.0					1																	183907946		2203	4300	6503	SO:0001819	synonymous_variant	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183907946G>A	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1830C>T	1.37:g.183907946G>A						GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Silent_p.A218A|GLT25D2_uc001gqq.2_Silent_p.A347A|GLT25D2_uc001gqs.2_Silent_p.A490A	p.A610A	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			12	2202	-			610					O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.1830C>T	CCDS1360.1																																																																																				PASS	0.562	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		17	38	17	38	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186010270	186010270	+	Splice_Site	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:186010270T>C	ENST00000271588.4	+	40	6533		c.e40+2		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						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.?(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						GAGTATATGGTGAGACATTTT	0.408																																						uc001grq.1																			1	Unknown(1)		lung(1)	ovary(22)|skin(1)	23						c.e40+2		hemicentin 1 precursor							110.0	109.0	109.0					1																	186010270		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186010270T>C	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.6304+2T>C	1.37:g.186010270T>C							p.V2102_splice	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			40	6533	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.6304_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698024	0.88830	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.313	0.74048	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184276893	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.569000	0.82380	2.088000	0.63022	0.477000	0.44152	.		PASS	0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	13	58	13	58	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186099657	186099657	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:186099657G>T	ENST00000271588.4	+	85	13287	c.13058G>T	c.(13057-13059)gGt>gTt	p.G4353V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4353V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4353	Ig-like C2-type 43.				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.G4353V(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						GTCTTCAAAGGTGATTATCCT	0.403																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(13057-13059)GGT>GTT		hemicentin 1 precursor							76.0	75.0	75.0					1																	186099657		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186099657G>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.13058G>T	1.37:g.186099657G>T	ENSP00000271588:p.Gly4353Val					HMCN1_uc001grs.1_5'UTR	p.G4353V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			85	13287	+			4353			Ig-like C2-type 43.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13058G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801545	0.70682	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.63913	-0.06;-0.07	5.58	4.67	0.58626	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.138872	0.64402	D	0.000003	T	0.54870	0.1885	N	0.16478	0.41	0.80722	D	1	P	0.48589	0.912	P	0.50490	0.642	T	0.53514	-0.8428	10	0.27785	T	0.31	.	14.6435	0.68742	0.0703:0.0:0.9297:0.0	.	4353	Q96RW7	HMCN1_HUMAN	V	4353	ENSP00000271588:G4353V;ENSP00000356462:G4353V	ENSP00000271588:G4353V	G	+	2	0	HMCN1	184366280	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.963000	0.87922	1.485000	0.48380	0.591000	0.81541	GGT		PASS	0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		28	58	28	58	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186326588	186326588	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:186326588C>A	ENST00000367478.4	-	14	1961	c.1665G>T	c.(1663-1665)gtG>gtT	p.V555V	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	555					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.V555V(1)|p.V556V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCTAAGGGCCACTAAGAGAC	0.383			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(1663-1665)GTG>GTT		nuclear pore complex-associated protein TPR							153.0	140.0	144.0					1																	186326588		1856	4093	5949	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186326588C>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1665G>T	1.37:g.186326588C>A						TPR_uc010pop.1_Silent_p.V631V	p.V555V	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	14	1962	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	555			Potential.		Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.1665G>T	CCDS41446.1																																																																																				PASS	0.383	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		14	30	14	30	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186925289	186925289	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:186925289G>T	ENST00000367466.3	+	14	1544	c.1392G>T	c.(1390-1392)tgG>tgT	p.W464C	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.W404C	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	464	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.W464C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AAGCAAGTTGGATTCATCGTA	0.408																																						uc001gsc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(1390-1392)TGG>TGT		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						135.0	121.0	126.0					1																	186925289		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186925289G>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1392G>T	1.37:g.186925289G>T	ENSP00000356436:p.Trp464Cys					PLA2G4A_uc010pos.1_Missense_Mutation_p.W404C	p.W464C	NM_024420	NP_077734	P47712	PA24A_HUMAN			14	1597	+			464			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.1392G>T	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168673	0.78339	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04194	3.68;3.68	5.45	5.45	0.79879	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.00150	-1.1986	10	0.38643	T	0.18	-8.0701	18.6433	0.91402	0.0:0.0:1.0:0.0	.	404;464	E7EU42;P47712	.;PA24A_HUMAN	C	464;404	ENSP00000356436:W464C;ENSP00000406892:W404C	ENSP00000356436:W464C	W	+	3	0	PLA2G4A	185191912	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.223000	0.95203	2.725000	0.93324	0.655000	0.94253	TGG		PASS	0.408	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		5	34	5	34	---	---	---	---
TROVE2	6738	broad.mit.edu	37	1	193038214	193038214	+	Silent	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:193038214A>T	ENST00000367446.3	+	2	240	c.30A>T	c.(28-30)ccA>ccT	p.P10P	TROVE2_ENST00000367441.1_Silent_p.P10P|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367443.1_Silent_p.P10P|TROVE2_ENST00000367444.3_Silent_p.P10P|TROVE2_ENST00000400968.2_Silent_p.P10P|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367445.3_Silent_p.P10P	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	10					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.P10P(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AAATGCAGCCACTGAATGAGA	0.378																																						uc001gss.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(28-30)CCA>CCT		TROVE domain family, member 2 isoform 2							88.0	83.0	85.0					1																	193038214		1900	4127	6027	SO:0001819	synonymous_variant	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193038214A>T	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.30A>T	1.37:g.193038214A>T						TROVE2_uc001gst.1_Intron|TROVE2_uc001gsu.1_Intron|TROVE2_uc001gsv.1_Silent_p.P10P|TROVE2_uc001gsw.2_Silent_p.P10P|TROVE2_uc009wyp.2_Silent_p.P10P|TROVE2_uc009wyq.2_Silent_p.P10P|TROVE2_uc001gsx.1_Silent_p.P10P	p.P10P	NM_004600	NP_004591	P10155	RO60_HUMAN			2	205	+			10					B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	ENST00000367446.3	37	c.30A>T	CCDS1379.1																																																																																				PASS	0.378	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		7	31	7	31	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197112698	197112698	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:197112698G>A	ENST00000367409.4	-	3	940	c.684C>T	c.(682-684)ttC>ttT	p.F228F	ASPM_ENST00000294732.7_Silent_p.F228F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	228					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.F228F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGCATTCATTGAAAGCAGGGC	0.393																																						uc001gtu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(682-684)TTC>TTT		asp (abnormal spindle)-like, microcephaly							137.0	128.0	131.0					1																	197112698		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112698G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.684C>T	1.37:g.197112698G>A						ASPM_uc001gtv.2_Silent_p.F228F|ASPM_uc001gtw.3_Intron	p.F228F	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			3	941	-			228					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.684C>T	CCDS1389.1																																																																																				PASS	0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		19	53	19	53	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203798581	203798581	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:203798581G>T	ENST00000545588.1	+	5	4128	c.301G>T	c.(301-303)Gtg>Ttg	p.V101L	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.V101L|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.V101L|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.V101L|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.V101L	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	101					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V101L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCGTTTAGCTGTGTTGCCCAC	0.418																																						uc001hac.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(301-303)GTG>TTG		zinc finger CCCH-type containing 11A							70.0	70.0	70.0					1																	203798581		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203798581G>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.301G>T	1.37:g.203798581G>T	ENSP00000438527:p.Val101Leu					ZC3H11A_uc001had.2_Missense_Mutation_p.V101L|ZC3H11A_uc001hae.2_Missense_Mutation_p.V101L|ZC3H11A_uc001haf.2_Missense_Mutation_p.V101L|ZC3H11A_uc010pqm.1_Missense_Mutation_p.V47L|ZC3H11A_uc001hag.1_Missense_Mutation_p.V101L	p.V101L	NM_014827	NP_055642	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		8	917	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		101					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.301G>T	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268413	0.40095	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.87	3.97	0.46021	.	0.653630	0.15292	N	0.270124	T	0.31358	0.0794	L	0.40543	1.245	0.30382	N	0.78188	B	0.11235	0.004	B	0.11329	0.006	T	0.19943	-1.0290	10	0.22706	T	0.39	-18.3955	8.2825	0.31908	0.1372:0.1396:0.7231:0.0	.	101	O75152	ZC11A_HUMAN	L	101;101;47;101;101;101;101	ENSP00000356183:V101L;ENSP00000356181:V101L;ENSP00000333253:V101L;ENSP00000438527:V101L;ENSP00000356179:V101L	ENSP00000333253:V101L	V	+	1	0	ZC3H11A	202065204	0.986000	0.35501	1.000000	0.80357	0.882000	0.50991	1.214000	0.32419	1.616000	0.50265	0.655000	0.94253	GTG		PASS	0.418	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		13	57	13	57	---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204380249	204380249	+	Silent	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:204380249T>C	ENST00000367188.4	-	1	670	c.291A>G	c.(289-291)ctA>ctG	p.L97L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	97					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.L97L(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CAGCAAAATCTAGCCATCTGG	0.567																																						uc001hav.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(289-291)CTA>CTG		protein phosphatase 1, regulatory subunit 15B							63.0	71.0	68.0					1																	204380249		2203	4300	6503	SO:0001819	synonymous_variant	84919				regulation of translation			g.chr1:204380249T>C	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.291A>G	1.37:g.204380249T>C							p.L97L	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	696	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		97					Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP	ENST00000367188.4	37	c.291A>G	CCDS1445.1																																																																																				PASS	0.567	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		32	68	32	68	---	---	---	---
LPGAT1	9926	broad.mit.edu	37	1	211952259	211952259	+	Splice_Site	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:211952259C>G	ENST00000366997.4	-	6	1081		c.e6+1		LPGAT1_ENST00000366996.1_Splice_Site	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)	p.?(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		AGAATTCTTACCTGTAATGTA	0.318																																						uc001hiu.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e6+1		lysophosphatidylglycerol acyltransferase 1							154.0	156.0	156.0					1																	211952259		2203	4300	6503	SO:0001630	splice_region_variant	9926				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chr1:211952259C>G	D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.854+1G>C	1.37:g.211952259C>G						LPGAT1_uc001hiv.2_Splice_Site_p.R285_splice	p.R285_splice	NM_014873	NP_055688	Q92604	LGAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)	6	1667	-								Q53YL2	Splice_Site	SNP	ENST00000366997.4	37	c.854_splice	CCDS31018.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595392	0.86953	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.32	0.98661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPGAT1	210018882	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.204000	0.77872	2.808000	0.96608	0.549000	0.68633	.		PASS	0.318	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873	Intron	10	76	10	76	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214805946	214805946	+	Splice_Site	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:214805946G>T	ENST00000366955.3	+	10	1614		c.e10+1			NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa						cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.?(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGCATGGAGGTAAGGGAGGA	0.438																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			1	Unknown(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.e10+1		centromere protein F							67.0	57.0	60.0					1																	214805946		2203	4300	6503	SO:0001630	splice_region_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214805946G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1446+1G>T	1.37:g.214805946G>T							p.E482_splice	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	10	1620	+								Q13171|Q13246|Q5VVM7	Splice_Site	SNP	ENST00000366955.3	37	c.1446_splice	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813401	0.32053	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3305	0.90267	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CENPF	212872569	1.000000	0.71417	0.973000	0.42090	0.038000	0.13279	7.396000	0.79891	2.388000	0.81334	0.650000	0.86243	.		PASS	0.438	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	Intron	8	19	8	19	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214816281	214816281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:214816281G>T	ENST00000366955.3	+	12	4768	c.4600G>T	c.(4600-4602)Gag>Tag	p.E1534*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1630	2 X 96 AA approximate tandem repeats.		Missing. {ECO:0000269|PubMed:7651420}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1534*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCTGCAGGAGGAGAATCTGAC	0.498																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(4600-4602)GAG>TAG		centromere protein F							47.0	48.0	47.0					1																	214816281		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214816281G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4600G>T	1.37:g.214816281G>T	ENSP00000355922:p.Glu1534*						p.E1534*	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	4774	+			1630					Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.4600G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	42	9.252957	0.99115	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.04	5.04	0.67666	.	0.213714	0.23658	N	0.045853	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	16.5896	0.84761	0.0:0.0:1.0:0.0	.	.	.	.	X	1534	.	ENSP00000355922:E1534X	E	+	1	0	CENPF	212882904	0.198000	0.23374	0.713000	0.30519	0.070000	0.16714	2.245000	0.43133	2.335000	0.79485	0.655000	0.94253	GAG		PASS	0.498	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		8	52	8	52	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215823956	215823956	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:215823956C>T	ENST00000307340.3	-	65	14707	c.14321G>A	c.(14320-14322)aGc>aAc	p.S4774N	USH2A_ENST00000366943.2_Missense_Mutation_p.S4774N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4774	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S4774N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCATGGGCGCTGCTGGAGAA	0.483										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14320-14322)AGC>AAC		usherin isoform B							74.0	74.0	74.0					1																	215823956		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215823956C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14321G>A	1.37:g.215823956C>T	ENSP00000305941:p.Ser4774Asn	HNSCC(13;0.011)					p.S4774N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14708	-			4774			Fibronectin type-III 33.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14321G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	1.169	-0.641507	0.03531	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	5.27	-3.15	0.05233	Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.140360	0.02731	N	0.115089	T	0.35393	0.0930	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13415	-1.0510	10	0.16896	T	0.51	.	7.8255	0.29313	0.0:0.4409:0.2547:0.3044	.	4774	O75445	USH2A_HUMAN	N	4774	ENSP00000305941:S4774N;ENSP00000355910:S4774N	ENSP00000305941:S4774N	S	-	2	0	USH2A	213890579	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.195000	0.09546	-0.509000	0.06532	-0.302000	0.09304	AGC		PASS	0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	83	9	83	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215901539	215901539	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:215901539C>G	ENST00000307340.3	-	61	12285	c.11899G>C	c.(11899-11901)Gat>Cat	p.D3967H	USH2A_ENST00000366943.2_Missense_Mutation_p.D3967H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3967	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D3967H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGGAAAATCTTGAGGTGGA	0.483										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11899-11901)GAT>CAT		usherin isoform B							85.0	83.0	84.0					1																	215901539		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215901539C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11899G>C	1.37:g.215901539C>G	ENSP00000305941:p.Asp3967His	HNSCC(13;0.011)					p.D3967H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	61	12286	-			3967			Fibronectin type-III 25.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11899G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279467	0.40294	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53423	0.62;0.62	5.53	3.62	0.41486	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.341617	0.20796	N	0.085531	T	0.45074	0.1324	M	0.62266	1.93	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.43572	-0.9383	10	0.62326	D	0.03	.	11.0313	0.47774	0.0:0.8004:0.1296:0.07	.	3967	O75445	USH2A_HUMAN	H	3967	ENSP00000305941:D3967H;ENSP00000355910:D3967H	ENSP00000305941:D3967H	D	-	1	0	USH2A	213968162	0.013000	0.17824	0.220000	0.23810	0.975000	0.68041	2.336000	0.43938	0.656000	0.30886	0.591000	0.81541	GAT		PASS	0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	36	19	36	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215990448	215990448	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:215990448G>C	ENST00000307340.3	-	48	9847	c.9461C>G	c.(9460-9462)gCt>gGt	p.A3154G	USH2A_ENST00000366943.2_Missense_Mutation_p.A3154G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3154	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A3154G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGAGTTTTAGCGCATGGATA	0.428										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(9460-9462)GCT>GGT		usherin isoform B							143.0	134.0	137.0					1																	215990448		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215990448G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9461C>G	1.37:g.215990448G>C	ENSP00000305941:p.Ala3154Gly	HNSCC(13;0.011)					p.A3154G	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	48	9848	-			3154			Extracellular (Potential).|Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9461C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566971	0.28003	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13778	2.57;2.56	5.29	4.38	0.52667	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.745426	0.11330	N	0.575111	T	0.12433	0.0302	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.25012	-1.0144	10	0.24483	T	0.36	.	14.4866	0.67622	0.0711:0.0:0.9289:0.0	.	3154	O75445	USH2A_HUMAN	G	3154	ENSP00000305941:A3154G;ENSP00000355910:A3154G	ENSP00000305941:A3154G	A	-	2	0	USH2A	214057071	0.018000	0.18449	0.075000	0.20258	0.518000	0.34316	1.782000	0.38654	1.381000	0.46364	0.561000	0.74099	GCT		PASS	0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		25	41	25	41	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216052200	216052200	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:216052200G>C	ENST00000307340.3	-	42	8850	c.8464C>G	c.(8464-8466)Cag>Gag	p.Q2822E	USH2A_ENST00000366943.2_Missense_Mutation_p.Q2822E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2822	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q2822E(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAACATTCTGAGGTACGGTG	0.458										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8464-8466)CAG>GAG		usherin isoform B							149.0	135.0	140.0					1																	216052200		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052200G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8464C>G	1.37:g.216052200G>C	ENSP00000305941:p.Gln2822Glu	HNSCC(13;0.011)					p.Q2822E	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8851	-			2822			Extracellular (Potential).|Fibronectin type-III 15.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8464C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	3.189	-0.166222	0.06461	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.8	3.88	0.44766	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.366130	0.19750	N	0.106915	T	0.38268	0.1034	L	0.41027	1.25	0.28516	N	0.913302	B	0.14805	0.011	B	0.18561	0.022	T	0.27226	-1.0080	10	0.07030	T	0.85	.	17.0403	0.86487	0.0:0.355:0.6449:0.0	.	2822	O75445	USH2A_HUMAN	E	2822	ENSP00000305941:Q2822E;ENSP00000355910:Q2822E	ENSP00000305941:Q2822E	Q	-	1	0	USH2A	214118823	1.000000	0.71417	0.371000	0.25978	0.038000	0.13279	4.052000	0.57420	0.754000	0.32968	-0.172000	0.13284	CAG		PASS	0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		23	67	23	67	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216052283	216052283	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:216052283A>T	ENST00000307340.3	-	42	8767	c.8381T>A	c.(8380-8382)gTt>gAt	p.V2794D	USH2A_ENST00000366943.2_Missense_Mutation_p.V2794D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2794	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V2794D(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAGCAAGCAACAATGGTGAC	0.458										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8380-8382)GTT>GAT		usherin isoform B							186.0	174.0	178.0					1																	216052283		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052283A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8381T>A	1.37:g.216052283A>T	ENSP00000305941:p.Val2794Asp	HNSCC(13;0.011)					p.V2794D	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8768	-			2794			Fibronectin type-III 14.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8381T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.688200	0.88639	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57595	0.39;0.39	6.16	6.16	0.99307	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40554	N	0.001069	T	0.72875	0.3515	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.71206	-0.4661	10	0.12766	T	0.61	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	2794	O75445	USH2A_HUMAN	D	2794	ENSP00000305941:V2794D;ENSP00000355910:V2794D	ENSP00000305941:V2794D	V	-	2	0	USH2A	214118906	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	6.937000	0.75898	2.367000	0.80283	0.528000	0.53228	GTT		PASS	0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		24	122	24	122	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216363668	216363668	+	Silent	SNP	T	T	A	rs142068313		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:216363668T>A	ENST00000307340.3	-	20	4679	c.4293A>T	c.(4291-4293)gtA>gtT	p.V1431V	USH2A_ENST00000366942.3_Silent_p.V1431V|USH2A_ENST00000366943.2_Silent_p.V1431V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1431	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V1431V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAGTCCTTCTACAGTGTAAG	0.378										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4291-4293)GTA>GTT		usherin isoform B							100.0	98.0	99.0					1																	216363668		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216363668T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4293A>T	1.37:g.216363668T>A		HNSCC(13;0.011)				USH2A_uc001hkv.2_Silent_p.V1431V	p.V1431V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	20	4680	-			1431			Extracellular (Potential).|Fibronectin type-III 4.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.4293A>T	CCDS31025.1																																																																																				PASS	0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		14	42	14	42	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216595351	216595351	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:216595351T>C	ENST00000307340.3	-	2	714	c.328A>G	c.(328-330)Aca>Gca	p.T110A	USH2A_ENST00000366942.3_Missense_Mutation_p.T110A|USH2A_ENST00000366943.2_Missense_Mutation_p.T110A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	110					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T110A(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTCTGGTGTGATGCAGCTA	0.453										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(328-330)ACA>GCA		usherin isoform B							123.0	113.0	117.0					1																	216595351		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595351T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.328A>G	1.37:g.216595351T>C	ENSP00000305941:p.Thr110Ala	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.T110A	p.T110A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	715	-			110			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.328A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146534	0.37923	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.18657	2.65;2.64;2.2	5.14	-0.376	0.12505	.	0.512655	0.15879	U	0.240158	T	0.16642	0.0400	L	0.59436	1.845	0.09310	N	1	B;B	0.13594	0.005;0.008	B;B	0.11329	0.006;0.003	T	0.20571	-1.0271	10	0.46703	T	0.11	.	3.3814	0.07256	0.1267:0.0707:0.2639:0.5387	.	110;110	O75445-2;O75445	.;USH2A_HUMAN	A	110	ENSP00000305941:T110A;ENSP00000355910:T110A;ENSP00000355909:T110A	ENSP00000305941:T110A	T	-	1	0	USH2A	214661974	0.000000	0.05858	0.020000	0.16555	0.562000	0.35680	-0.169000	0.09911	-0.016000	0.14127	0.482000	0.46254	ACA		PASS	0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	40	10	40	---	---	---	---
RRP15	51018	broad.mit.edu	37	1	218458684	218458684	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:218458684G>T	ENST00000366932.3	+	1	56	c.26G>T	c.(25-27)cGt>cTt	p.R9L	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	9						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R9L(1)	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)		CCGGACTCACGTGTGAGTGAG	0.547																																						uc001hlj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(25-27)CGT>CTT		ribosomal RNA processing 15 homolog							52.0	54.0	53.0					1																	218458684		2203	4300	6503	SO:0001583	missense	51018					mitochondrion|nucleolus	protein binding	g.chr1:218458684G>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.26G>T	1.37:g.218458684G>T	ENSP00000355899:p.Arg9Leu						p.R9L	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)	1	56	+			9						Missense_Mutation	SNP	ENST00000366932.3	37	c.26G>T	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675787	0.29783	.	.	ENSG00000067533	ENST00000366932	T	0.25912	1.77	4.12	2.14	0.27477	.	0.464098	0.20153	N	0.098110	T	0.18509	0.0444	L	0.29908	0.895	0.27297	N	0.957684	P	0.39601	0.68	B	0.41440	0.357	T	0.07558	-1.0766	10	0.54805	T	0.06	-0.879	6.1623	0.20370	0.2453:0.0:0.7547:0.0	.	9	Q9Y3B9	RRP15_HUMAN	L	9	ENSP00000355899:R9L	ENSP00000355899:R9L	R	+	2	0	RRP15	216525307	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	2.192000	0.42649	0.617000	0.30160	-0.355000	0.07637	CGT		PASS	0.547	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		3	20	3	20	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220152881	220152881	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:220152881C>A	ENST00000366923.3	-	27	4057	c.3788G>T	c.(3787-3789)gGa>gTa	p.G1263V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1263	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.G1263V(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTGCTTCTCTCCTGGTATCTT	0.388																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3787-3789)GGA>GTA		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						132.0	129.0	130.0					1																	220152881		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220152881C>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3788G>T	1.37:g.220152881C>A	ENSP00000355890:p.Gly1263Val						p.G1263V	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	27	4058	-			1263			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3788G>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847710	0.91277	.	.	ENSG00000136628	ENST00000366923	T	0.09445	2.98	5.93	5.93	0.95920	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.92784	3.345	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.55302	-0.8162	10	0.87932	D	0	-31.8838	20.3363	0.98740	0.0:1.0:0.0:0.0	.	1263	P07814	SYEP_HUMAN	V	1263	ENSP00000355890:G1263V	ENSP00000355890:G1263V	G	-	2	0	EPRS	218219504	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.814000	0.96858	0.563000	0.77884	GGA		PASS	0.388	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		11	63	11	63	---	---	---	---
DUSP10	11221	broad.mit.edu	37	1	221912899	221912900	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:221912899_221912900GA>AT	ENST00000366899.3	-	2	425_426	c.187_188TC>AT	c.(187-189)TCa>ATa	p.S63I	DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	63					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S63I(1)|p.S63T(1)|p.S63L(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GCCGCTGGATGAGGGCATATAC	0.584																																						uc001hmy.1																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|lung(1)	2						c.(187-189)TCA>TTA|c.(187-189)TCA>ACA		dual specificity phosphatase 10 isoform a																																				SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221912899G>A|g.chr1:221912900A>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.187_188delinsAT	1.37:g.221912899_221912900delinsAT	ENSP00000355866:p.Ser63Ile					DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	p.S63L|p.S63T	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	370|369	-			63					D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.188C>T|c.187T>A	CCDS1528.1																																																																																				PASS	0.584	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		10	51	10	51	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229568800	229568800	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:229568800G>C	ENST00000366684.3	-	2	165	c.63C>G	c.(61-63)gcC>gcG	p.A21A	ACTA1_ENST00000366683.2_Silent_p.A21A	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	21					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.A21A(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)				CGGCGAAGCCGGCTTTCACCA	0.672																																						uc001htm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(61-63)GCC>GCG		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						51.0	53.0	52.0					1																	229568800		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:229568800G>C	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.63C>G	1.37:g.229568800G>C							p.A21A	NM_001100	NP_001091	P68133	ACTS_HUMAN			2	168	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	21					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.63C>G	CCDS1578.1																																																																																				PASS	0.672	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		6	31	6	31	---	---	---	---
DISC1	27185	broad.mit.edu	37	1	231885718	231885718	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:231885718C>A	ENST00000602281.1	+	4	1217	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	DISC1_ENST00000439617.2_Silent_p.I388I|DISC1_ENST00000535983.1_Silent_p.I388I|DISC1_ENST00000366636.4_Silent_p.I388I|DISC1_ENST00000537876.1_Silent_p.I388I|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Silent_p.I38I|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366633.3_Silent_p.I388I|DISC1_ENST00000539444.1_Silent_p.I388I	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	388	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.I388I(2)|p.I420I(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AAGAGAAAATCAGCCTGCACT	0.483																																						uc001huz.2																			3	Substitution - coding silent(3)		lung(3)	skin(1)	1						c.(1162-1164)ATC>ATA		disrupted in schizophrenia 1 isoform L							108.0	106.0	106.0					1																	231885718		2203	4300	6503	SO:0001819	synonymous_variant	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231885718C>A	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1164C>A	1.37:g.231885718C>A						TSNAX-DISC1_uc010pwf.1_3'UTR|TSNAX-DISC1_uc010pwg.1_Silent_p.I377I|TSNAX-DISC1_uc010pwh.1_Silent_p.I343I|TSNAX-DISC1_uc010pwi.1_Silent_p.I343I|TSNAX-DISC1_uc010pwj.1_Silent_p.I377I|TSNAX-DISC1_uc010pwk.1_Silent_p.I377I|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_3'UTR|DISC1_uc010pwp.1_Silent_p.I388I|DISC1_uc010pwq.1_Silent_p.I388I|DISC1_uc010pwr.1_Silent_p.I388I|DISC1_uc010pws.1_Silent_p.I388I|DISC1_uc010pwt.1_Silent_p.I388I|DISC1_uc010pwu.1_Silent_p.I38I|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.I388I|DISC1_uc010pwx.1_Intron|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.I388I|DISC1_uc010pxb.1_Silent_p.I388I|DISC1_uc010pxc.1_Silent_p.I388I|DISC1_uc010pxd.1_Silent_p.I33I|DISC1_uc010pxe.1_Silent_p.I388I|DISC1_uc009xfr.2_Silent_p.I343I|DISC1_uc010pxf.1_Silent_p.I388I|DISC1_uc010pxg.1_Silent_p.I388I|DISC1_uc010pxh.1_Silent_p.I420I|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Silent_p.I33I|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Silent_p.I388I|DISC1_uc010pxn.1_Silent_p.I33I|DISC1_uc001hva.2_Silent_p.I388I	p.I388I	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			4	1217	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	388			Interaction with TRAF3IP1.|Potential.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	ENST00000602281.1	37	c.1164C>A	CCDS59205.1																																																																																				PASS	0.483	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		32	53	32	53	---	---	---	---
SLC35F3	148641	broad.mit.edu	37	1	234041325	234041325	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:234041325G>T	ENST00000366618.3	+	2	249	c.104G>T	c.(103-105)aGc>aTc	p.S35I		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.S35I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCCGACATCAGCCCCCAGCTC	0.667																																						uc001hvy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(103-105)AGC>ATC		solute carrier family 35, member F3							36.0	40.0	39.0					1																	234041325		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234041325G>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.104G>T	1.37:g.234041325G>T	ENSP00000355577:p.Ser35Ile						p.S35I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		2	249	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	Error:Variant_position_missing_in_Q8IY50_after_alignment					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366618.3	37	c.104G>T	CCDS1600.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781682	0.90282	.	.	ENSG00000183780	ENST00000366618	T	0.54675	0.56	5.23	4.29	0.51040	.	0.062767	0.64402	N	0.000016	T	0.47192	0.1432	.	.	.	0.80722	D	1	B	0.23891	0.093	B	0.23018	0.043	T	0.47995	-0.9073	9	0.87932	D	0	-10.741	13.3158	0.60407	0.0:0.0:0.8415:0.1585	.	35	Q8IY50-2	.	I	35	ENSP00000355577:S35I	ENSP00000355577:S35I	S	+	2	0	SLC35F3	232107948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.676000	0.91199	1.155000	0.42497	0.536000	0.68110	AGC		PASS	0.667	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092579.2	NM_173508		23	30	23	30	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234565935	234565935	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:234565935C>A	ENST00000040877.1	-	15	2506	c.2507G>T	c.(2506-2508)gGg>gTg	p.G836V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	836					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.G836V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTCCAGGGGCCCAGCATGGAG	0.572																																						uc001hwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2506-2508)GGG>GTG		TAR RNA binding protein 1							104.0	111.0	109.0					1																	234565935		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234565935C>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2507G>T	1.37:g.234565935C>A	ENSP00000040877:p.Gly836Val						p.G836V	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		15	2507	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	836					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.2507G>T	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379446	0.24944	.	.	ENSG00000059588	ENST00000040877	T	0.05996	3.36	5.35	2.45	0.29901	.	0.297652	0.37955	N	0.001872	T	0.05823	0.0152	L	0.56769	1.78	0.22610	N	0.998935	P	0.42827	0.791	B	0.35240	0.198	T	0.35325	-0.9793	10	0.66056	D	0.02	-13.3946	3.9773	0.09479	0.1623:0.5421:0.0:0.2956	.	836	Q13395	TARB1_HUMAN	V	836	ENSP00000040877:G836V	ENSP00000040877:G836V	G	-	2	0	TARBP1	232632558	0.058000	0.20735	0.004000	0.12327	0.035000	0.12851	1.082000	0.30803	0.327000	0.23409	0.650000	0.86243	GGG		PASS	0.572	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		22	102	22	102	---	---	---	---
LGALS8	3964	broad.mit.edu	37	1	236702237	236702237	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:236702237C>A	ENST00000366584.4	+	4	759	c.193C>A	c.(193-195)Cat>Aat	p.H65N	LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000450372.2_Missense_Mutation_p.H65N|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000341872.6_Missense_Mutation_p.H65N|LGALS8_ENST00000525042.1_Missense_Mutation_p.H65N|LGALS8_ENST00000352231.2_Missense_Mutation_p.H65N|LGALS8_ENST00000526634.1_Missense_Mutation_p.H65N|LGALS8_ENST00000527974.1_Missense_Mutation_p.H65N|RP11-385F5.5_ENST00000608547.1_RNA|LGALS8_ENST00000416919.2_Missense_Mutation_p.H65N|LGALS8_ENST00000526589.1_Missense_Mutation_p.H65N	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	65	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.H65N(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTGGCCTTTCATTTCAATCC	0.478																																						uc001hxz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(193-195)CAT>AAT		galectin-8 isoform b							90.0	82.0	84.0					1																	236702237		2203	4300	6503	SO:0001583	missense	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236702237C>A	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.193C>A	1.37:g.236702237C>A	ENSP00000355543:p.His65Asn					LGALS8_uc001hxw.1_Missense_Mutation_p.H65N|LGALS8_uc001hxy.1_Missense_Mutation_p.H65N|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.H65N|LGALS8_uc001hyb.1_Missense_Mutation_p.H65N|LGALS8_uc001hyc.1_Missense_Mutation_p.H65N	p.H65N	NM_201543	NP_963837	O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		5	574	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	65			Galectin 1.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.193C>A	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751625	0.89753	.	.	ENSG00000116977	ENST00000481485;ENST00000454943;ENST00000527974;ENST00000430527;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000238181;ENST00000356238;ENST00000416919;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.01	5.01	0.66863	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.115910	0.64402	D	0.000010	T	0.76271	0.3964	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.86308	0.1684	10	0.87932	D	0	.	18.4977	0.90870	0.0:1.0:0.0:0.0	.	65;65;65	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	N	65	ENSP00000435632:H65N;ENSP00000405504:H65N;ENSP00000431398:H65N;ENSP00000398630:H65N;ENSP00000309576:H65N;ENSP00000385999:H65N;ENSP00000435460:H65N;ENSP00000342139:H65N;ENSP00000408657:H65N;ENSP00000355543:H65N;ENSP00000238181:H65N;ENSP00000410843:H65N;ENSP00000437040:H65N;ENSP00000431884:H65N	ENSP00000238181:H65N	H	+	1	0	LGALS8	234768860	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	7.320000	0.79064	2.600000	0.87896	0.655000	0.94253	CAT		PASS	0.478	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		12	31	12	31	---	---	---	---
LGALS8	3964	broad.mit.edu	37	1	236711372	236711372	+	Missense_Mutation	SNP	G	G	C	rs558536606		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:236711372G>C	ENST00000366584.4	+	10	1431	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	LGALS8_ENST00000323938.6_Missense_Mutation_p.E262Q|LGALS8_ENST00000450372.2_Missense_Mutation_p.E331Q|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000341872.6_Missense_Mutation_p.E289Q|LGALS8_ENST00000525042.1_Missense_Mutation_p.E272Q|LGALS8_ENST00000352231.2_Missense_Mutation_p.E331Q|LGALS8_ENST00000526634.1_Missense_Mutation_p.E289Q|LGALS8_ENST00000527974.1_Missense_Mutation_p.E331Q|LGALS8_ENST00000416919.2_Missense_Mutation_p.E272Q|LGALS8_ENST00000526589.1_Missense_Mutation_p.E331Q	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	289	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.E331Q(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACACAGCCTGGAGTACAAACA	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21530	0.0		0.0	False		,,,				2504	0.0					uc001hxz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(865-867)GAG>CAG		galectin-8 isoform b							132.0	124.0	127.0					1																	236711372		2203	4300	6503	SO:0001583	missense	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236711372G>C	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.865G>C	1.37:g.236711372G>C	ENSP00000355543:p.Glu289Gln					LGALS8_uc001hxw.1_Missense_Mutation_p.E331Q|LGALS8_uc001hxy.1_Missense_Mutation_p.E331Q|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.E289Q|LGALS8_uc001hyb.1_Missense_Mutation_p.E289Q|LGALS8_uc001hyc.1_Missense_Mutation_p.E272Q	p.E289Q	NM_201543	NP_963837	O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		11	1246	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	289			Galectin 2.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.865G>C	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498247	0.85069	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.206543	0.47093	D	0.000250	T	0.20251	0.0487	L	0.53561	1.675	0.54753	D	0.999983	D;P;D	0.71674	0.996;0.8;0.998	P;P;P	0.62740	0.867;0.76;0.906	T	0.00091	-1.2084	10	0.62326	D	0.03	-14.5475	18.778	0.91920	0.0:0.0:1.0:0.0	.	272;289;331	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	Q	331;331;331;289;331;289;330;272;262;289;272	ENSP00000431398:E331Q;ENSP00000309576:E331Q;ENSP00000435460:E331Q;ENSP00000342139:E289Q;ENSP00000408657:E331Q;ENSP00000355543:E289Q;ENSP00000410843:E272Q;ENSP00000434860:E262Q;ENSP00000437040:E289Q;ENSP00000431884:E272Q	ENSP00000434860:E262Q	E	+	1	0	LGALS8	234777995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.932000	0.63476	2.740000	0.93945	0.650000	0.86243	GAG		PASS	0.418	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		23	50	23	50	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236751300	236751301	+	Missense_Mutation	DNP	CG	CG	AA	rs372480318		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:236751300_236751301CG>AA	ENST00000366582.3	-	13	1687_1688	c.1573_1574CG>TT	c.(1573-1575)CGa>TTa	p.R525L	HEATR1_ENST00000366581.2_Missense_Mutation_p.R525L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	525					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.R525L(2)|p.R525*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCACCTAATCGGGCTAAAACA	0.332																																						uc001hyd.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(2)|skin(1)	3						c.(1573-1575)CGA>CTA|c.(1573-1575)CGA>TGA		protein BAP28																																				SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236751300C>A|g.chr1:236751301G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1573_1574delinsAA	1.37:g.236751300_236751301delinsAA	ENSP00000355541:p.Arg525Leu						p.R525L|p.R525*	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		13	1699|1698	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	525					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000366582.3	37	c.1574G>T|c.1573C>T	CCDS31066.1																																																																																				PASS	0.332	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		8|9	38	8	38	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236911049	236911049	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:236911049A>G	ENST00000366578.4	+	13	1655	c.1489A>G	c.(1489-1491)Act>Gct	p.T497A	ACTN2_ENST00000542672.1_Missense_Mutation_p.T497A|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	497					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.T497A(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGGAACGCTTACTCAGAAGAG	0.398																																						uc001hyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1489-1491)ACT>GCT		actinin, alpha 2							43.0	47.0	45.0					1																	236911049		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236911049A>G	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1489A>G	1.37:g.236911049A>G	ENSP00000355537:p.Thr497Ala					ACTN2_uc001hyg.2_Missense_Mutation_p.T289A|ACTN2_uc009xgi.1_Missense_Mutation_p.T497A|ACTN2_uc010pxu.1_Missense_Mutation_p.T186A|ACTN2_uc001hyh.2_Missense_Mutation_p.T185A	p.T497A	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		13	1693	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	497			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1489A>G	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553049	0.65425	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.45276	0.9;0.9	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	L	0.42245	1.32	0.80722	D	1	B;B;D;P	0.53619	0.262;0.011;0.961;0.682	P;B;D;D	0.79784	0.643;0.079;0.993;0.954	T	0.51560	-0.8690	10	0.33141	T	0.24	.	16.3197	0.82945	1.0:0.0:0.0:0.0	.	282;497;267;497	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	A	497;497;266	ENSP00000443495:T497A;ENSP00000355537:T497A	ENSP00000355537:T497A	T	+	1	0	ACTN2	234977672	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	9.237000	0.95368	2.302000	0.77476	0.533000	0.62120	ACT		PASS	0.398	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		13	35	13	35	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237617764	237617764	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:237617764C>A	ENST00000366574.2	+	15	1683	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	RYR2_ENST00000360064.6_Missense_Mutation_p.L454M|RYR2_ENST00000542537.1_Missense_Mutation_p.L440M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	456					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L454M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCCTAAGTCTGCAGGATCT	0.453																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1366-1368)CTG>ATG		cardiac muscle ryanodine receptor							87.0	85.0	86.0					1																	237617764		1917	4122	6039	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237617764C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1366C>A	1.37:g.237617764C>A	ENSP00000355533:p.Leu456Met						p.L456M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		15	1486	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	456			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1366C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927463	0.34002	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95980	-3.87;-3.87;-3.87	5.65	2.74	0.32292	Intracellular calcium-release channel (1);	0.000000	0.49305	U	0.000158	D	0.96445	0.8840	M	0.69463	2.115	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	D	0.94496	0.7705	10	0.39692	T	0.17	.	11.1528	0.48469	0.0:0.8009:0.0:0.1991	.	456	Q92736	RYR2_HUMAN	M	456;454;440	ENSP00000355533:L456M;ENSP00000353174:L454M;ENSP00000443798:L440M	ENSP00000353174:L454M	L	+	1	2	RYR2	235684387	0.867000	0.29959	0.988000	0.46212	0.023000	0.10783	0.914000	0.28624	0.318000	0.23185	0.551000	0.68910	CTG		PASS	0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	125	10	125	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237619941	237619941	+	Missense_Mutation	SNP	C	C	G	rs372620246		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:237619941C>G	ENST00000366574.2	+	16	1835	c.1518C>G	c.(1516-1518)caC>caG	p.H506Q	RYR2_ENST00000360064.6_Missense_Mutation_p.H504Q|RYR2_ENST00000542537.1_Missense_Mutation_p.H490Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	506					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.H504Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCGTTTGCACGTCTACAGCA	0.433																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1516-1518)CAC>CAG		cardiac muscle ryanodine receptor							161.0	154.0	157.0					1																	237619941		1937	4142	6079	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237619941C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1518C>G	1.37:g.237619941C>G	ENSP00000355533:p.His506Gln						p.H506Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		16	1638	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	506			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1518C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	7.946	0.743903	0.15642	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95238	-3.65;-3.65;-3.65	4.56	-7.59	0.01308	Intracellular calcium-release channel (1);	0.086848	0.43110	U	0.000610	D	0.86125	0.5858	N	0.08118	0	0.80722	D	1	B	0.21606	0.058	B	0.28638	0.092	T	0.58853	-0.7563	10	0.66056	D	0.02	.	18.1576	0.89699	0.0:0.1877:0.0:0.8123	.	506	Q92736	RYR2_HUMAN	Q	506;504;490	ENSP00000355533:H506Q;ENSP00000353174:H504Q;ENSP00000443798:H490Q	ENSP00000353174:H504Q	H	+	3	2	RYR2	235686564	0.000000	0.05858	0.128000	0.21923	0.070000	0.16714	-2.001000	0.01465	-1.775000	0.01287	-1.031000	0.02408	CAC		PASS	0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		62	112	62	112	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237632437	237632437	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:237632437G>T	ENST00000366574.2	+	17	1975	c.1658G>T	c.(1657-1659)gGc>gTc	p.G553V	MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000360064.6_Missense_Mutation_p.G551V|RYR2_ENST00000542537.1_Missense_Mutation_p.G537V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	553					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G551V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTCTGGCTCCCTCGAC	0.373																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1657-1659)GGC>GTC		cardiac muscle ryanodine receptor							127.0	124.0	125.0					1																	237632437		1819	4089	5908	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237632437G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1658G>T	1.37:g.237632437G>T	ENSP00000355533:p.Gly553Val						p.G553V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		17	1778	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	553			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1658G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528162	0.44969	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.89050	-2.46;-2.46;-2.46	4.94	4.03	0.46877	Intracellular calcium-release channel (1);	0.087062	0.44285	U	0.000476	D	0.87605	0.6219	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	D	0.87563	0.2473	10	0.54805	T	0.06	.	10.4983	0.44791	0.0929:0.0:0.9071:0.0	.	553	Q92736	RYR2_HUMAN	V	553;551;537	ENSP00000355533:G553V;ENSP00000353174:G551V;ENSP00000443798:G537V	ENSP00000353174:G551V	G	+	2	0	RYR2	235699060	1.000000	0.71417	0.996000	0.52242	0.787000	0.44495	5.765000	0.68834	1.079000	0.41038	0.563000	0.77884	GGC		PASS	0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	77	10	77	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237730076	237730076	+	Splice_Site	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:237730076G>T	ENST00000366574.2	+	28	3740		c.e28+1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGCTTCAAGGTGAGTGGACT	0.537																																						uc001hyl.1																			1	Unknown(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e28+1		cardiac muscle ryanodine receptor							147.0	146.0	147.0					1																	237730076		2104	4216	6320	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237730076G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3423+1G>T	1.37:g.237730076G>T							p.K1141_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3543	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.3423_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851864	0.91355	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235796699	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.864000	0.99589	2.465000	0.83290	0.655000	0.94253	.		PASS	0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	50	191	50	191	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237778138	237778138	+	Silent	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:237778138T>C	ENST00000366574.2	+	37	6027	c.5710T>C	c.(5710-5712)Ttg>Ctg	p.L1904L	RYR2_ENST00000360064.6_Silent_p.L1902L|RYR2_ENST00000542537.1_Silent_p.L1888L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1904	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L1902L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCAGTTAAATTGCAGGTAAT	0.458																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5710-5712)TTG>CTG		cardiac muscle ryanodine receptor							31.0	33.0	33.0					1																	237778138		1909	4121	6030	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237778138T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5710T>C	1.37:g.237778138T>C							p.L1904L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5830	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1904			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.5710T>C	CCDS55691.1																																																																																				PASS	0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	45	9	45	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237948232	237948232	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:237948232G>C	ENST00000366574.2	+	90	13537	c.13220G>C	c.(13219-13221)aGc>aCc	p.S4407T	RYR2_ENST00000360064.6_Missense_Mutation_p.S4413T|RYR2_ENST00000542537.1_Missense_Mutation_p.S4391T|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4407					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S4405T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACCTCATGAGCAACCCAGTC	0.458																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13219-13221)AGC>ACC		cardiac muscle ryanodine receptor							23.0	22.0	22.0					1																	237948232		1912	4135	6047	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237948232G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13220G>C	1.37:g.237948232G>C	ENSP00000355533:p.Ser4407Thr					RYR2_uc010pya.1_Missense_Mutation_p.S822T	p.S4407T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13340	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4407					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13220G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	1.365	-0.587563	0.03799	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93366	-3.21;-3.21;-3.21	5.77	4.84	0.62591	Ryanodine Receptor TM 4-6 (1);	0.214397	0.37393	N	0.002117	T	0.82213	0.4988	N	0.02011	-0.69	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.006	T	0.76296	-0.3011	10	0.19147	T	0.46	-4.2532	15.0987	0.72256	0.0:0.3424:0.6576:0.0	.	1381;4407	B4DGV4;Q92736	.;RYR2_HUMAN	T	4407;4413;4391;1381	ENSP00000355533:S4407T;ENSP00000353174:S4413T;ENSP00000443798:S4391T	ENSP00000353174:S4413T	S	+	2	0	RYR2	236014855	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.016000	0.40971	1.373000	0.46208	0.655000	0.94253	AGC		PASS	0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	34	7	34	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237955581	237955581	+	Silent	SNP	G	G	C	rs115854664	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:237955581G>C	ENST00000366574.2	+	94	14057	c.13740G>C	c.(13738-13740)acG>acC	p.T4580T	RYR2_ENST00000360064.6_Silent_p.T4586T|RYR2_ENST00000542537.1_Silent_p.T4564T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4580					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T4578T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTGCACACGGTCATTTCTT	0.473																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13738-13740)ACG>ACC		cardiac muscle ryanodine receptor							67.0	73.0	71.0					1																	237955581		2064	4190	6254	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237955581G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13740G>C	1.37:g.237955581G>C						RYR2_uc010pyb.1_Silent_p.T13T	p.T4580T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		94	13860	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4580			Helical; Name=M6; (Potential).		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.13740G>C	CCDS55691.1																																																																																				PASS	0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	95	9	95	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237982461	237982461	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:237982461T>G	ENST00000366574.2	+	101	14876	c.14559T>G	c.(14557-14559)ttT>ttG	p.F4853L	RYR2_ENST00000360064.6_Missense_Mutation_p.F4859L|RYR2_ENST00000542537.1_Missense_Mutation_p.F4837L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4853					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.F4851L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTTCTTCTTTGTTATTGTCA	0.408																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14557-14559)TTT>TTG		cardiac muscle ryanodine receptor							233.0	231.0	232.0					1																	237982461		1938	4129	6067	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237982461T>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14559T>G	1.37:g.237982461T>G	ENSP00000355533:p.Phe4853Leu					RYR2_uc010pyb.1_Missense_Mutation_p.F286L	p.F4853L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		101	14679	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4853			Helical; Name=M10; (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14559T>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121762	0.77436	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.97941	-4.62;-4.62;-4.62	5.58	-5.46	0.02608	Ion transport (1);	0.000000	0.64402	U	0.000008	D	0.97266	0.9106	L	0.52126	1.63	0.47374	D	0.999404	B;D	0.57257	0.322;0.979	B;D	0.74023	0.253;0.982	D	0.95406	0.8494	10	0.87932	D	0	.	13.2573	0.60087	0.0:0.3453:0.0:0.6547	.	286;4853	F5H3C7;Q92736	.;RYR2_HUMAN	L	4853;4859;4837;286	ENSP00000355533:F4853L;ENSP00000353174:F4859L;ENSP00000443798:F4837L	ENSP00000353174:F4859L	F	+	3	2	RYR2	236049084	0.047000	0.20315	0.488000	0.27440	0.893000	0.52053	-0.721000	0.04963	-1.422000	0.02004	-1.054000	0.02325	TTT		PASS	0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		27	140	27	140	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238050774	238050774	+	Missense_Mutation	SNP	C	C	A	rs539530438		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:238050774C>A	ENST00000366570.4	-	5	799	c.641G>T	c.(640-642)cGc>cTc	p.R214L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	214	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.R214L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAGGGCCAAGCGCACAGAATC	0.507																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(640-642)CGC>CTC		zona pellucida glycoprotein 4 preproprotein							161.0	148.0	153.0					1																	238050774		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050774C>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.641G>T	1.37:g.238050774C>A	ENSP00000355529:p.Arg214Leu					LOC100130331_uc010pyc.1_Intron	p.R214L	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	641	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	214			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.641G>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211374	0.39102	.	.	ENSG00000116996	ENST00000366570	D	0.82433	-1.61	4.86	-6.27	0.02026	Zona pellucida sperm-binding protein (3);	0.389295	0.28031	N	0.016872	T	0.81059	0.4744	M	0.62154	1.92	0.09310	N	1	P	0.40660	0.726	P	0.49387	0.609	T	0.77013	-0.2745	10	0.59425	D	0.04	-5.2811	10.0074	0.41965	0.0:0.5853:0.127:0.2877	.	214	Q12836	ZP4_HUMAN	L	214	ENSP00000355529:R214L	ENSP00000355529:R214L	R	-	2	0	ZP4	236117397	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.748000	0.04818	-1.092000	0.03062	-0.290000	0.09829	CGC		PASS	0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			38	154	38	154	---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243349566	243349566	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:243349566C>A	ENST00000366542.1	-	9	1318	c.1267G>T	c.(1267-1269)Gct>Tct	p.A423S	CEP170_ENST00000366543.1_Missense_Mutation_p.A423S|CEP170_ENST00000366544.1_Missense_Mutation_p.A423S	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	423						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.A423S(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTTACAACAGCTTGGTCTTGA	0.413																																						uc001hzs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(1267-1269)GCT>TCT		centrosomal protein 170kDa isoform alpha							144.0	142.0	142.0					1																	243349566		1874	4099	5973	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243349566C>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1267G>T	1.37:g.243349566C>A	ENSP00000355500:p.Ala423Ser					CEP170_uc001hzt.2_Missense_Mutation_p.A423S|CEP170_uc001hzu.2_Missense_Mutation_p.A423S	p.A423S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		9	1675	-	all_neural(11;0.101)	all_cancers(173;0.003)	423					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1267G>T	CCDS44339.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.43|13.43|13.43	2.233467|2.233467|2.233467	0.39498|0.39498|0.39498	.|.|.	.|.|.	ENSG00000143702|ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415|ENST00000522895	T;T;T|.|.	0.49720|.|.	0.94;0.77;0.77|.|.	5.3|5.3|5.3	3.42|3.42|3.42	0.39159|0.39159|0.39159	.|.|.	0.161948|.|.	0.22460|.|.	U|.|.	0.059764|.|.	T|T|T	0.34513|0.34513|0.34513	0.0900|0.0900|0.0900	N|N|N	0.13235|0.13235|0.13235	0.315|0.315|0.315	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	B;B;B|.|.	0.30236|.|.	0.274;0.274;0.011|.|.	B;B;B|.|.	0.30943|.|.	0.115;0.122;0.012|.|.	T|T|T	0.07597|0.07597|0.07597	-1.0764|-1.0764|-1.0764	10|5|5	0.02654|.|.	T|.|.	1|.|.	-5.8883|-5.8883|-5.8883	6.1923|6.1923|6.1923	0.20530|0.20530|0.20530	0.0:0.6809:0.1547:0.1644|0.0:0.6809:0.1547:0.1644|0.0:0.6809:0.1547:0.1644	.|.|.	423;423;423|.|.	Q5SW79-3;Q5SW79-2;Q5SW79|.|.	.;.;CE170_HUMAN|.|.	S|N|I	423;423;423;321|324|49	ENSP00000355500:A423S;ENSP00000355502:A423S;ENSP00000355501:A423S|.|.	ENSP00000355500:A423S|.|.	A|K|S	-|-|-	1|3|2	0|2|0	CEP170|CEP170|CEP170	241416189|241416189|241416189	0.730000|0.730000|0.730000	0.28100|0.28100|0.28100	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	1.104000|1.104000|1.104000	0.31074|0.31074|0.31074	1.228000|1.228000|1.228000	0.43614|0.43614|0.43614	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCT|AAG|AGC		PASS	0.413	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		31	172	31	172	---	---	---	---
SDCCAG8	10806	broad.mit.edu	37	1	243480191	243480191	+	Missense_Mutation	SNP	C	C	A	rs199524638		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:243480191C>A	ENST00000366541.3	+	9	1182	c.1064C>A	c.(1063-1065)aCc>aAc	p.T355N	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.T210N|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.T312N|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.T355N	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	355	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.T355N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTGAAAAAACCAAGGCAAGT	0.328													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18365	0.0		0.0	False		,,,				2504	0.0					uc001hzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1063-1065)ACC>AAC		serologically defined colon cancer antigen 8							66.0	66.0	66.0					1																	243480191		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243480191C>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1064C>A	1.37:g.243480191C>A	ENSP00000355499:p.Thr355Asn					SDCCAG8_uc010pyk.1_Missense_Mutation_p.T210N|SDCCAG8_uc010pyl.1_Missense_Mutation_p.T167N|SDCCAG8_uc001hzx.2_Missense_Mutation_p.T167N	p.T355N	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	9	1220	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	355			Potential.|Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.1064C>A	CCDS31075.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.78	3.695945	0.68386	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.45	4.52	0.55395	.	0.108147	0.64402	D	0.000005	T	0.62780	0.2456	M	0.72894	2.215	0.51767	D	0.999934	D;D	0.89917	0.999;1.0	D;D	0.73380	0.948;0.98	T	0.56878	-0.7906	10	0.21540	T	0.41	-9.6796	11.952	0.52961	0.0:0.9189:0.0:0.0811	.	312;355	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	N	312;355;355;210;135	ENSP00000348137:T312N;ENSP00000375721:T355N;ENSP00000355499:T355N;ENSP00000341260:T210N;ENSP00000410200:T135N	ENSP00000341260:T210N	T	+	2	0	SDCCAG8	241546814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.338000	0.52128	2.725000	0.93324	0.655000	0.94253	ACC		PASS	0.328	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		34	32	34	32	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247419484	247419484	+	IGR	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:247419484C>G								RP11-488L18.8 (14359 upstream) : Y_RNA (38652 downstream)																							CTAAGATGATCAAACTTCCTG	0.343																																						uc010pyu.1																			0					0						c.(109-111)ATC>ATG		vomeronasal 1 receptor 5							126.0	127.0	126.0					1																	247419484		1830	4086	5916	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419484C>G																													1.37:g.247419484C>G							p.I37M	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		1	111	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	37			Cytoplasmic (Potential).			Missense_Mutation	SNP		37	c.111C>G																																																																																				0	PASS	0.343									23	104	23	104	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247582273	247582273	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:247582273C>A	ENST00000336119.3	+	1	923	c.177C>A	c.(175-177)atC>atA	p.I59I	NLRP3_ENST00000391827.2_Silent_p.I59I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.I59I|NLRP3_ENST00000348069.2_Silent_p.I59I|NLRP3_ENST00000391828.3_Silent_p.I59I|NLRP3_ENST00000366497.2_Silent_p.I59I	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	59	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.I59I(1)|p.I59M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGCTAATGATCGACTTCAATG	0.547																																						uc001icr.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I59M(1)	ovary(1)|lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(175-177)ATC>ATA		NLR family, pyrin domain containing 3 isoform a							69.0	60.0	63.0					1																	247582273		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582273C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.177C>A	1.37:g.247582273C>A						NLRP3_uc001ics.2_Silent_p.I59I|NLRP3_uc001icu.2_Silent_p.I59I|NLRP3_uc001icw.2_Silent_p.I59I|NLRP3_uc001icv.2_Silent_p.I59I|NLRP3_uc010pyw.1_Silent_p.I57I|NLRP3_uc001ict.1_Silent_p.I57I	p.I59I	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		3	315	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	59			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.177C>A	CCDS1632.1																																																																																				PASS	0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		11	35	11	35	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875361	247875361	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:247875361C>A	ENST00000302084.2	-	1	744	c.697G>T	c.(697-699)Ggc>Tgc	p.G233C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G233C(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGCTCCGGCCACTGGCAGAG	0.517																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)GGC>TGC		olfactory receptor, family 6, subfamily F,							119.0	108.0	112.0					1																	247875361		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875361C>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.697G>T	1.37:g.247875361C>A	ENSP00000305640:p.Gly233Cys						p.G233C	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	697	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		233			Cytoplasmic (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.697G>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	8.262	0.811374	0.16537	.	.	ENSG00000169214	ENST00000302084	T	0.00304	8.19	3.72	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.154798	0.30219	N	0.010128	T	0.01092	0.0036	H	0.98314	4.2	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.19289	-1.0310	10	0.87932	D	0	-24.1127	10.3644	0.44015	0.0:0.8998:0.0:0.1002	.	233	Q8NGZ6	OR6F1_HUMAN	C	233	ENSP00000305640:G233C	ENSP00000305640:G233C	G	-	1	0	OR6F1	245941984	0.007000	0.16637	0.008000	0.14137	0.004000	0.04260	1.115000	0.31209	0.884000	0.36064	0.591000	0.81541	GGC		PASS	0.517	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		32	120	32	120	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247920865	247920865	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:247920865C>G	ENST00000408896.2	-	1	1117	c.844G>C	c.(844-846)Gct>Cct	p.A282P		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	282					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A282P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGCATCGGAGCCACCATTGAA	0.478																																						uc010pza.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(844-846)GCT>CCT		olfactory receptor, family 1, subfamily C,							114.0	107.0	109.0					1																	247920865		1975	4177	6152	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920865C>G	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.844G>C	1.37:g.247920865C>G	ENSP00000386138:p.Ala282Pro						p.A282P	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	844	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	282			Helical; Name=7; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.844G>C	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	8.291	0.817736	0.16607	.	.	ENSG00000221888	ENST00000408896	T	0.36520	1.25	3.22	0.772	0.18510	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.32466	0.0830	N	0.20357	0.565	0.09310	N	1	P	0.41624	0.757	P	0.53102	0.718	T	0.21280	-1.0250	9	0.72032	D	0.01	.	4.289	0.10869	0.0:0.3262:0.1739:0.4998	.	282	Q15619	OR1C1_HUMAN	P	282	ENSP00000386138:A282P	ENSP00000386138:A282P	A	-	1	0	OR1C1	245987488	0.000000	0.05858	0.016000	0.15963	0.002000	0.02628	-0.236000	0.09003	0.030000	0.15379	-0.469000	0.05056	GCT		PASS	0.478	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			24	115	24	115	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248263520	248263520	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:248263520C>A	ENST00000358120.2	+	2	988	c.843C>A	c.(841-843)acC>acA	p.T281T	OR2L13_ENST00000366478.2_Silent_p.T281T			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T281T(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCATCCTTACCCCCATGCTCA	0.463																																						uc001ids.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(841-843)ACC>ACA		olfactory receptor, family 2, subfamily L,							80.0	81.0	81.0					1																	248263520		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263520C>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.843C>A	1.37:g.248263520C>A							p.T281T	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1180	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		281			Helical; Name=7; (Potential).		Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.843C>A	CCDS1637.1																																																																																				PASS	0.463	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		15	82	15	82	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525735	248525735	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:248525735G>T	ENST00000366475.1	+	1	853	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G285W(1)|p.G285R(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)			CCTCTTCTATGGGGCTGCCAT	0.547																																						uc001ieh.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(853-855)GGG>TGG		olfactory receptor, family 2, subfamily T,							159.0	153.0	155.0					1																	248525735		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525735G>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.853G>T	1.37:g.248525735G>T	ENSP00000355431:p.Gly285Trp						p.G285W	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	853	+	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)		285			Helical; Name=6; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.853G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	6.716	0.500795	0.12822	.	.	ENSG00000196944	ENST00000366475	T	0.39229	1.09	3.0	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000211	T	0.72036	0.3411	H	0.98218	4.175	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63475	-0.6629	10	0.87932	D	0	.	6.3326	0.21279	0.3182:0.0:0.6818:0.0	.	285	Q8NH00	OR2T4_HUMAN	W	285	ENSP00000355431:G285W	ENSP00000355431:G285W	G	+	1	0	OR2T4	246592358	0.001000	0.12720	0.971000	0.41717	0.041000	0.13682	0.820000	0.27323	0.457000	0.26962	-0.236000	0.12185	GGG		PASS	0.547	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		110	81	110	81	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616135	248616135	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:248616135T>G	ENST00000342927.3	+	1	59	c.37T>G	c.(37-39)Ttc>Gtc	p.F13V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F13V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCACTAACTTCGTCCTCAC	0.502																																						uc001iek.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(37-39)TTC>GTC		olfactory receptor, family 2, subfamily T,							60.0	73.0	69.0					1																	248616135		2168	4257	6425	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616135T>G	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.37T>G	1.37:g.248616135T>G	ENSP00000343062:p.Phe13Val						p.F13V	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	37	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		13			Extracellular (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.37T>G	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	t	11.21	1.571655	0.28003	.	.	ENSG00000196240	ENST00000342927	T	0.12039	2.72	3.2	3.2	0.36748	.	0.000000	0.49916	D	0.000128	T	0.42131	0.1189	M	0.91768	3.24	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.32877	-0.9890	10	0.87932	D	0	.	10.611	0.45421	0.0:0.0:0.0:1.0	.	13	Q6IF00	OR2T2_HUMAN	V	13	ENSP00000343062:F13V	ENSP00000343062:F13V	F	+	1	0	OR2T2	246682758	0.453000	0.25721	0.059000	0.19551	0.121000	0.20230	1.033000	0.30191	1.325000	0.45301	0.248000	0.18094	TTC		PASS	0.502	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		14	149	14	149	---	---	---	---
OR2T3	343173	broad.mit.edu	37	1	248637586	248637586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:248637586C>A	ENST00000359594.2	+	1	960	c.935C>A	c.(934-936)tCa>tAa	p.S312*		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S312*(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ATGATGCAGTCAAGAATGAAC	0.478																																						uc001iel.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(934-936)TCA>TAA		olfactory receptor, family 2, subfamily T,							196.0	213.0	207.0					1																	248637586		2201	4298	6499	SO:0001587	stop_gained	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637586C>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.935C>A	1.37:g.248637586C>A	ENSP00000352604:p.Ser312*						p.S312*	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	935	+	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)		312			Cytoplasmic (Potential).		B2RNJ1	Nonsense_Mutation	SNP	ENST00000359594.2	37	c.935C>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	10.99	1.506853	0.26949	.	.	ENSG00000196539	ENST00000359594	.	.	.	1.24	0.283	0.15696	.	.	.	.	.	.	.	.	.	.	.	0.20074	N	0.999933	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	3.5955	0.08005	0.0:0.7332:0.0:0.2668	.	.	.	.	X	312	.	ENSP00000352604:S312X	S	+	2	0	OR2T3	246704209	0.077000	0.21312	0.004000	0.12327	0.095000	0.18619	0.939000	0.28978	0.097000	0.17492	0.186000	0.17326	TCA		PASS	0.478	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		35	297	35	297	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685105	248685106	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:248685105_248685106CC>AA	ENST00000343414.4	+	1	190_191	c.158_159CC>AA	c.(157-159)tCC>tAA	p.S53*		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S53Y(2)|p.S53S(1)|p.S53*(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)			TGTCTGGACTCCAGACTCCACA	0.48																																						uc001ien.1																			4	Substitution - Missense(2)|Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(4)	ovary(2)|skin(1)	3						c.(157-159)TCC>TAC|c.(157-159)TCC>TCA		olfactory receptor, family 2, subfamily G,																																				SO:0001587	stop_gained	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685105C>A|g.chr1:248685106C>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	Exception_encountered	1.37:g.248685105_248685106delinsAA	ENSP00000341291:p.Ser53*						p.S53Y|p.S53S	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	158|159	+	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)	53			Cytoplasmic (Potential).		B2RP33	Missense_Mutation|Silent	SNP	ENST00000343414.4	37	c.158C>A|c.159C>A	CCDS31119.1																																																																																				PASS	0.480	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		5|7	75	5	75	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685110	248685110	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:248685110C>G	ENST00000343414.4	+	1	195	c.163C>G	c.(163-165)Ctc>Gtc	p.L55V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L55V(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)			GGACTCCAGACTCCACACTCC	0.468																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(163-165)CTC>GTC		olfactory receptor, family 2, subfamily G,							141.0	120.0	127.0					1																	248685110		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685110C>G		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.163C>G	1.37:g.248685110C>G	ENSP00000341291:p.Leu55Val						p.L55V	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	163	+	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)	55			Cytoplasmic (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.163C>G	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	14.88	2.668675	0.47677	.	.	ENSG00000188558	ENST00000343414	T	0.02812	4.15	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	U	0.001206	T	0.29190	0.0726	H	0.99117	4.435	0.35595	D	0.807427	D	0.89917	1.0	D	0.85130	0.997	T	0.65623	-0.6123	10	0.87932	D	0	.	14.3343	0.66578	0.0:1.0:0.0:0.0	.	55	Q5TZ20	OR2G6_HUMAN	V	55	ENSP00000341291:L55V	ENSP00000341291:L55V	L	+	1	0	OR2G6	246751733	0.999000	0.42202	0.068000	0.19968	0.280000	0.26924	5.730000	0.68546	1.869000	0.54173	0.400000	0.26472	CTC		PASS	0.468	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		42	38	42	38	---	---	---	---
OR2T10	127069	broad.mit.edu	37	1	248756222	248756222	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:248756222G>A	ENST00000330500.2	-	1	878	c.848C>T	c.(847-849)cCt>cTt	p.P283L	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P283L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			ATTCAAGACAGGTGTAAGGAT	0.398																																						uc010pzn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(847-849)CCT>CTT		olfactory receptor, family 2, subfamily T,							51.0	60.0	57.0					1																	248756222		2041	4235	6276	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756222G>A		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.848C>T	1.37:g.248756222G>A	ENSP00000329210:p.Pro283Leu						p.P283L	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	848	-	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)		283			Helical; Name=7; (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.848C>T	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	8.490	0.861700	0.17178	.	.	ENSG00000184022	ENST00000330500	T	0.00337	8.05	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01387	0.0045	H	0.98178	4.165	0.19575	N	0.999966	D	0.89917	1.0	D	0.74023	0.982	T	0.16424	-1.0403	9	0.87932	D	0	.	11.4637	0.50225	0.0:0.0:1.0:0.0	.	283	Q8NGZ9	O2T10_HUMAN	L	283	ENSP00000329210:P283L	ENSP00000329210:P283L	P	-	2	0	OR2T10	246822845	0.942000	0.31987	0.028000	0.17463	0.003000	0.03518	1.432000	0.34936	1.123000	0.41961	0.447000	0.29281	CCT		PASS	0.398	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		8	43	8	43	---	---	---	---
OR2T10	127069	broad.mit.edu	37	1	248756589	248756589	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:248756589G>T	ENST00000330500.2	-	1	511	c.481C>A	c.(481-483)Ccc>Acc	p.P161T	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P161T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			ATGGCGATGGGAGTGAGCATG	0.537																																						uc010pzn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(481-483)CCC>ACC		olfactory receptor, family 2, subfamily T,							110.0	117.0	115.0					1																	248756589		2051	4234	6285	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756589G>T		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.481C>A	1.37:g.248756589G>T	ENSP00000329210:p.Pro161Thr						p.P161T	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	481	-	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)		161			Extracellular (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.481C>A	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	6.494	0.459364	0.12342	.	.	ENSG00000184022	ENST00000330500	T	0.36520	1.25	2.16	-0.265	0.12946	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16041	0.0386	N	0.11870	0.19	0.09310	N	1	B	0.19583	0.037	B	0.21360	0.034	T	0.27673	-1.0067	9	0.20046	T	0.44	.	3.2893	0.06943	0.2733:0.0:0.5236:0.2031	.	161	Q8NGZ9	O2T10_HUMAN	T	161	ENSP00000329210:P161T	ENSP00000329210:P161T	P	-	1	0	OR2T10	246823212	0.000000	0.05858	0.982000	0.44146	0.811000	0.45836	-2.000000	0.01466	0.105000	0.17753	-0.409000	0.06214	CCC		PASS	0.537	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		14	150	14	150	---	---	---	---
OR2T11	127077	broad.mit.edu	37	1	248790288	248790288	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:248790288C>T	ENST00000330803.2	-	1	203	c.142G>A	c.(142-144)Gtg>Atg	p.V48M		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V48M(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			CGAGAGTCCACCTGAATCAAG	0.498																																						uc001ier.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(142-144)GTG>ATG		olfactory receptor, family 2, subfamily T,							64.0	73.0	70.0					1																	248790288		2050	4238	6288	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790288C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.142G>A	1.37:g.248790288C>T	ENSP00000328934:p.Val48Met						p.V48M	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	142	-	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)		48			Cytoplasmic (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.142G>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	0.148	-1.094997	0.01858	.	.	ENSG00000183130	ENST00000330803	T	0.03094	4.05	4.62	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.778441	0.10848	N	0.627457	T	0.02455	0.0075	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.48445	-0.9035	10	0.21014	T	0.42	.	7.8523	0.29462	0.0:0.6533:0.0:0.3466	.	48	Q8NH01	O2T11_HUMAN	M	48	ENSP00000328934:V48M	ENSP00000328934:V48M	V	-	1	0	OR2T11	246856911	0.000000	0.05858	0.078000	0.20375	0.268000	0.26511	-0.575000	0.05861	0.554000	0.29061	0.655000	0.94253	GTG		PASS	0.498	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		19	87	19	87	---	---	---	---
TMEM18	129787	broad.mit.edu	37	2	675608	675608	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:675608C>A	ENST00000281017.3	-	2	173	c.80G>T	c.(79-81)tGg>tTg	p.W27L	AC092159.2_ENST00000445418.1_RNA|TMEM18_ENST00000355654.2_Missense_Mutation_p.W14L|TMEM18_ENST00000405941.3_Missense_Mutation_p.W30L	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	27					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)	p.W27L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CCCCATGAGCCAGGGCTCAGT	0.612																																						uc002qwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(79-81)TGG>TTG		transmembrane protein 18							98.0	84.0	89.0					2																	675608		2203	4300	6503	SO:0001583	missense	129787				cell migration	integral to membrane|nuclear membrane		g.chr2:675608C>A	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.80G>T	2.37:g.675608C>A	ENSP00000281017:p.Trp27Leu					TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	p.W27L	NM_152834	NP_690047	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	2	174	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	27			Helical; (Potential).		D6W4X9|Q8N5H2|Q9NTH3	Missense_Mutation	SNP	ENST00000281017.3	37	c.80G>T	CCDS33141.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158940	0.78226	.	.	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.85542	2.76	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.79704	-0.1692	9	0.37606	T	0.19	-3.5274	13.772	0.63032	0.0:1.0:0.0:0.0	.	27	Q96B42	TMM18_HUMAN	L	27;14;30	.	ENSP00000281017:W27L	W	-	2	0	TMEM18	665608	1.000000	0.71417	0.991000	0.47740	0.391000	0.30476	5.851000	0.69481	2.602000	0.87976	0.591000	0.81541	TGG		PASS	0.612	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834		4	25	4	25	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1926494	1926494	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:1926494C>T	ENST00000399161.2	-	10	1794	c.1047G>A	c.(1045-1047)agG>agA	p.R349R	MYT1L_ENST00000428368.2_Silent_p.R349R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	349					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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.R349R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTGCGGATTCCTCTCCTGCG	0.567																																						uc002qxe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1045-1047)AGG>AGA		myelin transcription factor 1-like							49.0	55.0	53.0					2																	1926494		2125	4236	6361	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926494C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1047G>A	2.37:g.1926494C>T						MYT1L_uc002qxd.2_Silent_p.R349R|MYT1L_uc010ewl.1_RNA	p.R349R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1874	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	349					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1047G>A																																																																																					PASS	0.567	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		8	33	8	33	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1927027	1927027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:1927027G>A	ENST00000399161.2	-	10	1261	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.Q172*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	172					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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.Q172*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CAATTCATTTGATGGTCTTCT	0.348																																						uc002qxe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(514-516)CAA>TAA		myelin transcription factor 1-like							35.0	31.0	32.0					2																	1927027		1843	4106	5949	SO:0001587	stop_gained	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1927027G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.514C>T	2.37:g.1927027G>A	ENSP00000382114:p.Gln172*					MYT1L_uc002qxd.2_Nonsense_Mutation_p.Q172*|MYT1L_uc010ewl.1_RNA	p.Q172*	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1341	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	172					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	ENST00000399161.2	37	c.514C>T		.	.	.	.	.	.	.	.	.	.	G	43	10.373485	0.99393	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.93	5.93	0.95920	.	0.619931	0.17920	N	0.157542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-14.6883	20.3311	0.98718	0.0:0.0:1.0:0.0	.	.	.	.	X	172;120;172	.	ENSP00000295067:Q120X	Q	-	1	0	MYT1L	1906034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.600000	0.61083	2.797000	0.96272	0.655000	0.94253	CAA		PASS	0.348	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		4	12	4	12	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18113462	18113462	+	Nonsense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:18113462T>A	ENST00000403915.1	+	3	1638	c.1187T>A	c.(1186-1188)tTg>tAg	p.L396*	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Nonsense_Mutation_p.L396*	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	396					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.L396*(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGGCATCTTGGTGGTGGCC	0.532																																						uc002rcv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(1186-1188)TTG>TAG		potassium voltage-gated channel							171.0	146.0	155.0					2																	18113462		2203	4300	6503	SO:0001587	stop_gained	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18113462T>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1187T>A	2.37:g.18113462T>A	ENSP00000385968:p.Leu396*					KCNS3_uc002rcw.2_Nonsense_Mutation_p.L396*	p.L396*	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	1638	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		396			Helical; Name=Segment S6; (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Nonsense_Mutation	SNP	ENST00000403915.1	37	c.1187T>A	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	T	38	7.095687	0.98059	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	.	.	.	5.86	5.86	0.93980	.	0.213087	0.39834	N	0.001242	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.255	0.82510	0.0:0.0:0.0:1.0	.	.	.	.	X	396	.	ENSP00000305824:L396X	L	+	2	0	KCNS3	17976943	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	8.040000	0.89188	2.240000	0.73641	0.533000	0.62120	TTG		PASS	0.532	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		7	48	7	48	---	---	---	---
NT5C1B	93034	broad.mit.edu	37	2	18765908	18765908	+	Silent	SNP	G	G	A	rs202208251		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:18765908G>A	ENST00000359846.2	-	5	852	c.775C>T	c.(775-777)Ctg>Ttg	p.L259L	NT5C1B_ENST00000600945.1_Silent_p.L259L|NT5C1B-RDH14_ENST00000532967.1_Silent_p.L259L|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Silent_p.L199L	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	259					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.L259L(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTGCGGTCCAGCTGGGTGGAG	0.652																																						uc002rcz.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(775-777)CTG>TTG		5' nucleotidase, cytosolic IB isoform 1							19.0	22.0	21.0					2																	18765908		2203	4299	6502	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18765908G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.775C>T	2.37:g.18765908G>A						NT5C1B_uc002rcy.2_Silent_p.L259L|NT5C1B_uc010exr.2_Silent_p.L201L|NT5C1B_uc010yju.1_Silent_p.L199L|NT5C1B_uc002rda.2_Silent_p.L199L|NT5C1B_uc010yjv.1_Silent_p.L276L|NT5C1B_uc010yjw.1_Silent_p.L242L|NT5C1B_uc010exs.2_Silent_p.L261L|NT5C1B_uc002rdb.1_Silent_p.L51L	p.L259L	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			5	879	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	259					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.775C>T	CCDS33150.1																																																																																				PASS	0.652	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			4	7	4	7	---	---	---	---
APOB	338	broad.mit.edu	37	2	21234330	21234330	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:21234330T>C	ENST00000233242.1	-	26	5537	c.5410A>G	c.(5410-5412)Aat>Gat	p.N1804D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1804					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.N1804D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGAGCATTGTATTTCAGG	0.393																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(5410-5412)AAT>GAT		apolipoprotein B precursor	Atorvastatin(DB01076)						133.0	136.0	135.0					2																	21234330		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234330T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5410A>G	2.37:g.21234330T>C	ENSP00000233242:p.Asn1804Asp						p.N1804D	NM_000384	NP_000375	P04114	APOB_HUMAN			26	5538	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1804					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.5410A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	6.338	0.430430	0.12045	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00686	5.85	6.05	2.5	0.30297	.	0.839868	0.10566	N	0.659710	T	0.00666	0.0022	N	0.16478	0.41	0.09310	N	0.999996	B	0.10296	0.003	B	0.04013	0.001	T	0.46386	-0.9195	10	0.23302	T	0.38	.	8.4887	0.33086	0.0:0.3658:0.0:0.6342	.	1804	P04114	APOB_HUMAN	D	1804	ENSP00000233242:N1804D	ENSP00000233242:N1804D	N	-	1	0	APOB	21087835	0.000000	0.05858	0.339000	0.25562	0.992000	0.81027	0.149000	0.16243	0.548000	0.28955	0.528000	0.53228	AAT		PASS	0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			19	104	19	104	---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25061456	25061456	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:25061456A>T	ENST00000260600.5	-	7	2242	c.1391T>A	c.(1390-1392)cTg>cAg	p.L464Q	ADCY3_ENST00000405392.1_Missense_Mutation_p.L97Q	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	464					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.L464Q(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTCCCCTTTCAGGCAGTCCAT	0.597																																						uc002rfs.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1390-1392)CTG>CAG		adenylate cyclase 3							143.0	141.0	142.0					2																	25061456		2203	4300	6503	SO:0001583	missense	109				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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25061456A>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1391T>A	2.37:g.25061456A>T	ENSP00000260600:p.Leu464Gln					ADCY3_uc002rfr.3_Missense_Mutation_p.L97Q|ADCY3_uc010ykm.1_Missense_Mutation_p.L464Q	p.L464Q	NM_004036	NP_004027	O60266	ADCY3_HUMAN			7	1590	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		464			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1391T>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449752	0.84101	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	D;D;D;D;D	0.92911	-2.21;-3.13;-2.21;-2.21;-2.21	5.3	5.3	0.74995	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.64402	D	0.000001	D	0.97723	0.9253	H	0.98577	4.27	0.50813	D	0.999891	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99250	1.0887	10	0.87932	D	0	.	14.9078	0.70733	1.0:0.0:0.0:0.0	.	464;464;97	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	Q	464;97;439;90;220;414	ENSP00000260600:L464Q;ENSP00000384484:L97Q;ENSP00000410120:L90Q;ENSP00000399275:L220Q;ENSP00000389799:L414Q	ENSP00000260600:L464Q	L	-	2	0	ADCY3	24914960	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	9.100000	0.94213	1.985000	0.57927	0.533000	0.62120	CTG		PASS	0.597	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			21	114	21	114	---	---	---	---
HADHA	3030	broad.mit.edu	37	2	26424190	26424190	+	Splice_Site	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:26424190C>G	ENST00000380649.3	-	13	1350		c.e13-1			NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit						cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.?(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCATTCAATCTAGAAAAAAC	0.393																																						uc002rgy.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e13-1		mitochondrial trifunctional protein, alpha	NADH(DB00157)						80.0	78.0	78.0					2																	26424190		2203	4300	6503	SO:0001630	splice_region_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26424190C>G	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1221-1G>C	2.37:g.26424190C>G						HADHA_uc010yks.1_Splice_Site_p.G320_splice	p.G407_splice	NM_000182	NP_000173	P40939	ECHA_HUMAN			13	1351	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Splice_Site	SNP	ENST00000380649.3	37	c.1221_splice	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339809	0.60963	.	.	ENSG00000084754	ENST00000380649	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8231	0.88656	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HADHA	26277694	1.000000	0.71417	0.634000	0.29324	0.526000	0.34562	7.571000	0.82399	2.557000	0.86248	0.655000	0.94253	.		PASS	0.393	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182	Intron	8	33	8	33	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27167686	27167686	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:27167686C>A	ENST00000288699.6	+	12	1761	c.1603C>A	c.(1603-1605)Ctc>Atc	p.L535I	DPYSL5_ENST00000401478.1_Missense_Mutation_p.L535I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	535					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L535I(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCTTCAGCCTCTCTGGTAA	0.607																																						uc002rhu.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1603-1605)CTC>ATC		dihydropyrimidinase-like 5							38.0	42.0	41.0					2																	27167686		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27167686C>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1603C>A	2.37:g.27167686C>A	ENSP00000288699:p.Leu535Ile					DPYSL5_uc002rhv.3_Missense_Mutation_p.L535I	p.L535I	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			12	1761	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		535					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1603C>A	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018028	0.75275	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.87729	-2.29;-2.29	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	M	0.62209	1.925	0.45066	D	0.998087	D	0.56035	0.974	P	0.51701	0.677	D	0.87431	0.2388	10	0.27082	T	0.32	-12.5827	17.5986	0.88020	0.0:1.0:0.0:0.0	.	535	Q9BPU6	DPYL5_HUMAN	I	535	ENSP00000288699:L535I;ENSP00000385549:L535I	ENSP00000288699:L535I	L	+	1	0	DPYSL5	27021190	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.540000	0.60664	2.459000	0.83118	0.462000	0.41574	CTC		PASS	0.607	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		11	28	11	28	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27552333	27552333	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:27552333G>C	ENST00000359541.2	-	13	2219	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	GTF3C2_ENST00000264720.3_Missense_Mutation_p.S597C			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	597					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.S597C(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCATCAGAGAGCCGTAT	0.493																																						uc002rjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1789-1791)TCT>TGT		general transcription factor IIIC, polypeptide							148.0	149.0	149.0					2																	27552333		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27552333G>C	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1790C>G	2.37:g.27552333G>C	ENSP00000352536:p.Ser597Cys					GTF3C2_uc010eyy.1_Missense_Mutation_p.S52C|GTF3C2_uc002rju.1_Missense_Mutation_p.S608C|GTF3C2_uc002rjw.1_Missense_Mutation_p.S597C	p.S597C	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			14	2153	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		597					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.1790C>G	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.56|15.56	2.869436|2.869436	0.51588|0.51588	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000454704|ENST00000359541;ENST00000264720	.|T;T	.|0.73897	.|-0.79;-0.79	5.87|5.87	5.87|5.87	0.94306|0.94306	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.311752	.|0.34580	.|N	.|0.003846	T|T	0.63534|0.63534	0.2519|0.2519	L|L	0.29908|0.29908	0.895|0.895	0.32598|0.32598	N|N	0.526331|0.526331	.|P	.|0.47106	.|0.89	.|B	.|0.39971	.|0.315	T|T	0.74607|0.74607	-0.3609|-0.3609	5|10	.|0.59425	.|D	.|0.04	-9.4297|-9.4297	12.9508|12.9508	0.58399|0.58399	0.0:0.0:0.8383:0.1617|0.0:0.0:0.8383:0.1617	.|.	.|597	.|Q8WUA4	.|TF3C2_HUMAN	V|C	106|597	.|ENSP00000352536:S597C;ENSP00000264720:S597C	.|ENSP00000264720:S597C	L|S	-|-	1|2	2|0	GTF3C2|GTF3C2	27405837|27405837	0.955000|0.955000	0.32602|0.32602	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.907000|4.907000	0.63300|0.63300	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTG|TCT		PASS	0.493	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			29	139	29	139	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27684180	27684180	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:27684180C>G	ENST00000260570.3	-	22	2501	c.2398G>C	c.(2398-2400)Gaa>Caa	p.E800Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	800					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.E800Q(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTGATGTGTTCTACCAGCTCT	0.557																																						uc002rku.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2398-2400)GAA>CAA		selective LIM binding factor homolog							128.0	112.0	118.0					2																	27684180		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27684180C>G	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2398G>C	2.37:g.27684180C>G	ENSP00000260570:p.Glu800Gln						p.E800Q	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			22	2449	-	Acute lymphoblastic leukemia(172;0.155)		800					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.2398G>C	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232806	0.39498	.	.	ENSG00000138002	ENST00000260570	T	0.62639	0.01	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);	0.366667	0.32218	N	0.006418	T	0.54224	0.1845	L	0.44542	1.39	0.45634	D	0.998563	B	0.20550	0.046	B	0.26202	0.067	T	0.48456	-0.9034	10	0.25751	T	0.34	-11.6751	12.5073	0.55987	0.0:0.9186:0.0:0.0814	.	800	Q9UG01	IF172_HUMAN	Q	800	ENSP00000260570:E800Q	ENSP00000260570:E800Q	E	-	1	0	IFT172	27537684	0.015000	0.18098	0.911000	0.35937	0.940000	0.58332	1.532000	0.36029	2.624000	0.88883	0.585000	0.79938	GAA		PASS	0.557	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		25	65	25	65	---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30998812	30998812	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:30998812C>G	ENST00000295055.8	-	4	547	c.371G>C	c.(370-372)gGc>gCc	p.G124A	CAPN13_ENST00000534090.2_Missense_Mutation_p.G124A|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	124	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.G124A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ACGGAAAATGCCAGCATACTG	0.512																																						uc002rnn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(370-372)GGC>GCC		calpain 13							130.0	128.0	129.0					2																	30998812		1967	4157	6124	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30998812C>G		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.371G>C	2.37:g.30998812C>G	ENSP00000295055:p.Gly124Ala					CAPN13_uc002rnp.1_Missense_Mutation_p.G124A	p.G124A	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			4	547	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		124			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.371G>C	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096286	0.56075	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.58797	0.31;0.31	4.52	4.52	0.55395	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.84929	0.5581	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90911	0.4776	10	0.87932	D	0	.	15.0928	0.72207	0.0:1.0:0.0:0.0	.	124	Q6MZZ7	CAN13_HUMAN	A	124	ENSP00000295055:G124A;ENSP00000431298:G124A	ENSP00000295055:G124A	G	-	2	0	CAPN13	30852316	1.000000	0.71417	0.970000	0.41538	0.109000	0.19521	7.415000	0.80131	2.216000	0.71823	0.655000	0.94253	GGC		PASS	0.512	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		11	60	11	60	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33500942	33500942	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:33500942G>T	ENST00000404816.2	+	18	3297	c.2944G>T	c.(2944-2946)Gaa>Taa	p.E982*	LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E656*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.E603*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E983*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.E603*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E657*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E656*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	982	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E983*(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTTCCGGTGTGAATACTGTGA	0.557																																						uc002ros.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2947-2949)GAA>TAA		latent transforming growth factor beta binding							136.0	124.0	128.0					2																	33500942		2203	4300	6503	SO:0001587	stop_gained	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33500942G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2944G>T	2.37:g.33500942G>T	ENSP00000386043:p.Glu982*					LTBP1_uc002rot.2_Nonsense_Mutation_p.E657*|LTBP1_uc002rou.2_Nonsense_Mutation_p.E656*|LTBP1_uc002rov.2_Nonsense_Mutation_p.E603*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.E656*|LTBP1_uc010yna.1_Nonsense_Mutation_p.E603*	p.E983*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			18	2947	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	982			EGF-like 6; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.2947G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	40	8.137787	0.98672	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	.	.	.	4.73	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	11.9877	0.53157	0.0922:0.0:0.9078:0.0	.	.	.	.	X	982;983;657;656;603;603;656	.	ENSP00000346467:E983X	E	+	1	0	LTBP1	33354446	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.707000	0.54838	0.995000	0.38917	0.655000	0.94253	GAA		PASS	0.557	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		9	63	9	63	---	---	---	---
VIT	5212	broad.mit.edu	37	2	37002155	37002155	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:37002155G>A	ENST00000389975.3	+	9	1049	c.747G>A	c.(745-747)agG>agA	p.R249R	VIT_ENST00000379242.3_Silent_p.R249R|VIT_ENST00000401530.1_Silent_p.R249R|VIT_ENST00000404084.1_Intron|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Intron	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	249					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.R249R(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GTATCCAAAGGCAAGATCCTT	0.507																																						uc002rpl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(745-747)AGG>AGA		vitrin							77.0	77.0	77.0					2																	37002155		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:37002155G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.747G>A	2.37:g.37002155G>A						VIT_uc002rpm.2_Silent_p.R242R|VIT_uc010ezv.2_Intron|VIT_uc010ezw.2_Silent_p.R242R	p.R249R	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			9	968	+		all_hematologic(82;0.248)	249					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.747G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	4.579	0.107556	0.08780	.	.	ENSG00000205221	ENST00000464309	.	.	.	5.03	0.0969	0.14492	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26018	-1.0115	4	.	.	.	.	4.6161	0.12427	0.1276:0.0:0.2701:0.6023	.	.	.	.	D	16	.	.	G	+	2	0	VIT	36855659	0.002000	0.14202	0.001000	0.08648	0.066000	0.16364	-0.007000	0.12810	0.085000	0.17107	0.655000	0.94253	GGC		PASS	0.507	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				5	44	5	44	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39089399	39089399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:39089399C>A	ENST00000295373.6	-	4	586	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	154							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E154*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGGGAAGGTTCCTGTCCAGCT	0.498																																					Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(460-462)GAA>TAA		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							95.0	83.0	87.0					2																	39089399		2203	4300	6503	SO:0001587	stop_gained	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39089399C>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.460G>T	2.37:g.39089399C>A	ENSP00000295373:p.Glu154*					DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Nonsense_Mutation_p.E154*	p.E154*	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			4	559	-		all_hematologic(82;0.248)	154					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Nonsense_Mutation	SNP	ENST00000295373.6	37	c.460G>T	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	37	6.180833	0.97352	.	.	ENSG00000163214	ENST00000295373;ENST00000355320;ENST00000417233	.	.	.	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.9465	0.89040	0.0:1.0:0.0:0.0	.	.	.	.	X	154;52;52	.	ENSP00000295373:E154X	E	-	1	0	DHX57	38942903	0.998000	0.40836	0.849000	0.33467	0.771000	0.43674	5.012000	0.64017	2.735000	0.93741	0.655000	0.94253	GAA		PASS	0.498	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		6	39	6	39	---	---	---	---
SRBD1	55133	broad.mit.edu	37	2	45832512	45832512	+	Silent	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:45832512T>A	ENST00000263736.4	-	2	131	c.69A>T	c.(67-69)tcA>tcT	p.S23S		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	23					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.S23S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACTCAGAGAATGAAGAAAATT	0.358																																						uc002rus.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(67-69)TCA>TCT		S1 RNA binding domain 1							173.0	168.0	170.0					2																	45832512		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45832512T>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.69A>T	2.37:g.45832512T>A							p.S23S	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		2	145	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	23					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.69A>T	CCDS1823.1																																																																																				PASS	0.358	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		11	66	11	66	---	---	---	---
PPP1R21	129285	broad.mit.edu	37	2	48713811	48713811	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:48713811G>C	ENST00000294952.8	+	14	1517	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q	PPP1R21_ENST00000449090.2_Missense_Mutation_p.E454Q|PPP1R21_ENST00000281394.4_Missense_Mutation_p.E454Q	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	454						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.E454Q(2)		endometrium(2)|kidney(4)|lung(9)	15						AATAGAGCATGAACTTCCAAC	0.323																																						uc002rwm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1360-1362)GAA>CAA		KLRAQ motif containing 1 isoform 1							78.0	75.0	76.0					2																	48713811		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48713811G>C	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1360G>C	2.37:g.48713811G>C	ENSP00000294952:p.Glu454Gln					KLRAQ1_uc002rwj.2_Missense_Mutation_p.E454Q|KLRAQ1_uc002rwl.2_Missense_Mutation_p.E408Q|KLRAQ1_uc002rwk.2_Missense_Mutation_p.E454Q|KLRAQ1_uc010yok.1_Missense_Mutation_p.E454Q	p.E454Q	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			14	1545	+			454					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1360G>C	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775386	0.70107	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.47	5.47	0.80525	.	0.244211	0.43260	D	0.000594	T	0.58850	0.2151	L	0.34521	1.04	0.53688	D	0.999977	P;P;P;B	0.49783	0.928;0.674;0.912;0.015	P;P;P;B	0.53360	0.724;0.459;0.603;0.012	T	0.49978	-0.8881	9	0.12103	T	0.63	-11.096	19.3193	0.94231	0.0:0.0:1.0:0.0	.	454;454;454;454	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	Q	454	.	ENSP00000281394:E454Q	E	+	1	0	KLRAQ1	48567315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.073000	0.89498	2.582000	0.87167	0.650000	0.86243	GAA		PASS	0.323	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		3	46	3	46	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49190184	49190184	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:49190184G>T	ENST00000406846.2	-	10	1895	c.1776C>A	c.(1774-1776)gcC>gcA	p.A592A	FSHR_ENST00000541117.1_Silent_p.A328A|FSHR_ENST00000346173.3_Silent_p.A530A|FSHR_ENST00000304421.4_Silent_p.A566A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	592					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.A592A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AGGCAGAAATGGCAAAGAAAG	0.527									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1774-1776)GCC>GCA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						61.0	60.0	60.0					2																	49190184		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190184G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1776C>A	2.37:g.49190184G>T						FSHR_uc002rwx.2_Silent_p.A530A|FSHR_uc010fbn.2_Silent_p.A566A	p.A592A	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1850	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	592			Helical; Name=6; (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.1776C>A	CCDS1843.1																																																																																				PASS	0.527	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			8	31	8	31	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50699459	50699459	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:50699459C>A	ENST00000406316.2	-	16	4697	c.3221G>T	c.(3220-3222)gGa>gTa	p.G1074V	NRXN1_ENST00000401710.1_Missense_Mutation_p.G83V|NRXN1_ENST00000406859.3_Missense_Mutation_p.G1074V|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1066V|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1066V|NRXN1_ENST00000404971.1_Missense_Mutation_p.G1114V|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1074V|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1074	Laminin G-like 5. {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.G1115V(1)|p.G1114V(1)|p.G1074V(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)			CTCGATCTGTCCGTTGCAGAA	0.438																																						uc010fbq.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(3340-3342)GGA>GTA		neurexin 1 isoform alpha2 precursor							84.0	78.0	80.0					2																	50699459		1868	4113	5981	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.chr2:50699459C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3221G>T	2.37:g.50699459C>A	ENSP00000384311:p.Gly1074Val					NRXN1_uc002rxb.3_Missense_Mutation_p.G746V|NRXN1_uc002rxe.3_Missense_Mutation_p.G1074V|NRXN1_uc002rxc.1_RNA	p.G1114V	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		16	4818	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.3341G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964413	0.92791	.	.	ENSG00000179915	ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.92616	0.7654	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.986	D	0.93260	0.6642	10	0.72032	D	0.01	.	19.6002	0.95559	0.0:1.0:0.0:0.0	.	1114;1074;1066	Q9ULB1-3;F8WB18;A7E294	.;.;.	V	83;1114;1074;1066;1074;1115;1066;1074	ENSP00000385580:G83V;ENSP00000385142:G1114V;ENSP00000384311:G1074V;ENSP00000434015:G1066V;ENSP00000385017:G1074V;ENSP00000385434:G1066V;ENSP00000385681:G1074V	ENSP00000385017:G1074V	G	-	2	0	NRXN1	50552963	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.445000	0.80570	2.691000	0.91804	0.655000	0.94253	GGA		PASS	0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			9	34	9	34	---	---	---	---
GPR75	10936	broad.mit.edu	37	2	54080608	54080608	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:54080608G>A	ENST00000394705.2	-	2	1556	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	429					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)	p.S429F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATGTAGGCAGAGTTTGTTTC	0.448																																						uc002rxo.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1285-1287)TCT>TTT		G protein-coupled receptor 75							122.0	123.0	123.0					2																	54080608		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080608G>A	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1286C>T	2.37:g.54080608G>A	ENSP00000378195:p.Ser429Phe					ASB3_uc002rxi.3_Intron	p.S429F	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1557	-			429			Cytoplasmic (Potential).		B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.1286C>T	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116434	0.77323	.	.	ENSG00000119737	ENST00000394705	T	0.30714	1.52	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.63567	-0.6608	9	0.87932	D	0	-12.4113	19.5043	0.95108	0.0:0.0:1.0:0.0	.	429	O95800	GPR75_HUMAN	F	429	ENSP00000378195:S429F	ENSP00000378195:S429F	S	-	2	0	GPR75	53934112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.359000	0.97115	2.607000	0.88179	0.561000	0.74099	TCT		PASS	0.448	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			41	60	41	60	---	---	---	---
PAPOLG	64895	broad.mit.edu	37	2	61002258	61002258	+	Splice_Site	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:61002258C>T	ENST00000238714.3	+	8	943	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	232					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.R232*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATGGGCAAAACGTAAGTATCC	0.318																																					GBM(183;1497 2932 21839 46797)	uc002sai.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(694-696)CGA>TGA		poly(A) polymerase gamma							82.0	82.0	82.0					2																	61002258		2202	4300	6502	SO:0001630	splice_region_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61002258C>T	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.694+1C>T	2.37:g.61002258C>T						PAPOLG_uc002saj.2_Translation_Start_Site|PAPOLG_uc002sak.2_Translation_Start_Site	p.R232*	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		8	925	+	all_hematologic(2;0.0797)		232					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Nonsense_Mutation	SNP	ENST00000238714.3	37	c.694C>T	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	C	37	6.422240	0.97555	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.51	3.41	0.39046	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8928	14.9999	0.71464	0.3085:0.6915:0.0:0.0	.	.	.	.	X	232	.	ENSP00000238714:R232X	R	+	1	2	PAPOLG	60855762	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.304000	0.43655	1.420000	0.47138	0.655000	0.94253	CGA		PASS	0.318	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	Nonsense_Mutation	6	21	6	21	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63176204	63176204	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:63176204G>A	ENST00000263991.5	+	14	2810	c.2328G>A	c.(2326-2328)aaG>aaA	p.K776K	EHBP1_ENST00000354487.3_Silent_p.K741K|EHBP1_ENST00000405289.1_Silent_p.K741K|EHBP1_ENST00000431489.1_Silent_p.K741K|EHBP1_ENST00000405015.3_Silent_p.K741K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	776						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.K776K(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCTTGCTAAGAAAAAACATG	0.378																																						uc002sby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(2326-2328)AAG>AAA		EH domain binding protein 1 isoform 1							38.0	42.0	41.0					2																	63176204		2201	4299	6500	SO:0001819	synonymous_variant	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63176204G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2328G>A	2.37:g.63176204G>A						EHBP1_uc010fcp.2_Silent_p.K741K|EHBP1_uc002sbz.2_Silent_p.K741K|EHBP1_uc002scb.2_Silent_p.K741K	p.K776K	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2810	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		776					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	c.2328G>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	6.055	0.378471	0.11466	.	.	ENSG00000115504	ENST00000454124	.	.	.	6.03	4.22	0.49857	.	.	.	.	.	T	0.57695	0.2071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53436	-0.8439	4	.	.	.	.	7.4943	0.27479	0.1358:0.2587:0.6055:0.0	.	.	.	.	K	46	.	.	R	+	2	0	EHBP1	63029708	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	0.885000	0.28227	0.869000	0.35703	0.655000	0.94253	AGA		PASS	0.378	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		13	39	13	39	---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69046400	69046400	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:69046400G>T	ENST00000295381.3	+	9	1565	c.1146G>T	c.(1144-1146)tgG>tgT	p.W382C	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.W375C|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.W76C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.W343C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.W376C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.W383C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.W376C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	382					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.W376C(1)|p.W383C(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTGTAGGCTGGGATGCCACTG	0.522																																						uc002seu.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(1144-1146)TGG>TGT		Rho GTPase activating protein 25 isoform a							99.0	98.0	98.0					2																	69046400		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046400G>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1146G>T	2.37:g.69046400G>T	ENSP00000295381:p.Trp382Cys					ARHGAP25_uc010fdg.2_Missense_Mutation_p.W383C|ARHGAP25_uc010yql.1_Missense_Mutation_p.W343C|ARHGAP25_uc002sev.2_Missense_Mutation_p.W376C|ARHGAP25_uc002sew.2_Missense_Mutation_p.W375C|ARHGAP25_uc002sex.2_Missense_Mutation_p.W376C|ARHGAP25_uc002sey.2_Missense_Mutation_p.W109C	p.W382C	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			9	1510	+			382					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1146G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.093284|4.093284	0.76756|0.76756	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000497259|ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	.|T;T;T;T;T;T;T	.|0.56941	.|2.58;2.58;2.28;2.57;2.58;2.59;0.43	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66567|0.66567	0.2802|0.2802	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.998;0.999;0.999;0.999;0.999;0.995	T|T	0.65278|0.65278	-0.6207|-0.6207	5|10	.|0.49607	.|T	.|0.09	.|.	18.0845|18.0845	0.89453|0.89453	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|343;383;376;375;376;382	.|E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.|.;.;.;.;.;RHG25_HUMAN	V|C	242|382;383;343;375;376;376;376;367;76	.|ENSP00000295381:W382C;ENSP00000386911:W383C;ENSP00000420583:W343C;ENSP00000386863:W375C;ENSP00000386241:W376C;ENSP00000417139:W376C;ENSP00000417467:W76C	.|ENSP00000295381:W382C	G|W	+|+	2|3	0|0	ARHGAP25|ARHGAP25	68899904|68899904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	6.743000|6.743000	0.74848|0.74848	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GGG|TGG		PASS	0.522	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		16	98	16	98	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409643	69409643	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:69409643G>T	ENST00000303714.4	+	16	1526	c.1204G>T	c.(1204-1206)Ggc>Tgc	p.G402C	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	402					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.G402C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGGAGAAAAGGGCTCCACAGA	0.413									Familial Infantile Hemangioma																													uc002sfg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1204-1206)GGC>TGC		anthrax toxin receptor 1 isoform 1 precursor							97.0	92.0	93.0					2																	69409643		2203	4300	6503	SO:0001583	missense	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409643G>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1204G>T	2.37:g.69409643G>T	ENSP00000301945:p.Gly402Cys						p.G402C	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			16	1560	+			402			Cytoplasmic (Potential).		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.1204G>T	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566273	0.65651	.	.	ENSG00000169604	ENST00000303714	D	0.87103	-2.21	5.32	5.32	0.75619	Anthrax toxin receptor, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93549	0.7941	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93917	0.7202	10	0.87932	D	0	-18.4423	18.1548	0.89687	0.0:0.0:1.0:0.0	.	402	Q9H6X2	ANTR1_HUMAN	C	402	ENSP00000301945:G402C	ENSP00000301945:G402C	G	+	1	0	ANTXR1	69263147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.997000	0.93544	2.769000	0.95229	0.561000	0.74099	GGC		PASS	0.413	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		27	45	27	45	---	---	---	---
ASPRV1	151516	broad.mit.edu	37	2	70187820	70187820	+	Nonsense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:70187820G>C	ENST00000320256.4	-	1	1577	c.1001C>G	c.(1000-1002)tCa>tGa	p.S334*	PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1									p.S334*(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCCTTCTTCTGAGGAGGGGTC	0.552																																						uc002sfz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1000-1002)TCA>TGA		aspartic peptidase, retroviral-like 1 precursor							76.0	80.0	78.0					2																	70187820		2203	4300	6503	SO:0001587	stop_gained	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70187820G>C	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.1001C>G	2.37:g.70187820G>C	ENSP00000315383:p.Ser334*						p.S334*	NM_152792	NP_690005	Q53RT3	APRV1_HUMAN			1	1578	-			334			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000320256.4	37	c.1001C>G	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	G	41	8.566710	0.98866	.	.	ENSG00000244617	ENST00000320256	.	.	.	4.81	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.29735	N	0.83754	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	1.7175	6.9209	0.24387	0.0963:0.176:0.7277:0.0	.	.	.	.	X	334	.	ENSP00000315383:S334X	S	-	2	0	ASPRV1	70041324	0.000000	0.05858	0.000000	0.03702	0.653000	0.38743	-0.034000	0.12225	0.558000	0.29135	0.561000	0.74099	TCA		PASS	0.552	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		17	97	17	97	---	---	---	---
MCEE	84693	broad.mit.edu	37	2	71351516	71351516	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:71351516C>A	ENST00000244217.5	-	2	215	c.198G>T	c.(196-198)aaG>aaT	p.K66N	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	66					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)	p.K66N(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCAGAATATTCTTATAAAATG	0.478																																						uc002shs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)AAG>AAT		methylmalonyl CoA epimerase precursor							95.0	103.0	101.0					2																	71351516		2203	4300	6503	SO:0001583	missense	84693				fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity	g.chr2:71351516C>A	AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.198G>T	2.37:g.71351516C>A	ENSP00000244217:p.Lys66Asn						p.K66N	NM_032601	NP_115990	Q96PE7	MCEE_HUMAN			2	243	-			66					Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	c.198G>T	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	9.423	1.083589	0.20309	.	.	ENSG00000124370	ENST00000413592;ENST00000244217	T;T	0.70869	-0.52;-0.07	5.39	2.55	0.30701	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.851022	0.11037	N	0.606535	T	0.75715	0.3887	M	0.81682	2.555	0.18873	N	0.999985	B	0.33528	0.416	B	0.43658	0.426	T	0.67436	-0.5671	10	0.66056	D	0.02	-12.7093	6.4426	0.21859	0.1473:0.6928:0.0:0.1599	.	66	Q96PE7	MCEE_HUMAN	N	22;66	ENSP00000391140:K22N;ENSP00000244217:K66N	ENSP00000244217:K66N	K	-	3	2	MCEE	71205024	0.293000	0.24371	0.009000	0.14445	0.399000	0.30720	0.486000	0.22340	0.325000	0.23359	0.650000	0.86243	AAG		PASS	0.478	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601		16	119	16	119	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71838380	71838380	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:71838380G>T	ENST00000258104.3	+	37	4186	c.3909G>T	c.(3907-3909)gaG>gaT	p.E1303D	DYSF_ENST00000394120.2_Missense_Mutation_p.E1304D|DYSF_ENST00000409744.1_Missense_Mutation_p.E1290D|DYSF_ENST00000409651.1_Missense_Mutation_p.E1335D|DYSF_ENST00000410041.1_Missense_Mutation_p.E1321D|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.E1320D|DYSF_ENST00000409366.1_Missense_Mutation_p.E1304D|DYSF_ENST00000413539.2_Missense_Mutation_p.E1334D|DYSF_ENST00000410020.3_Missense_Mutation_p.E1321D|DYSF_ENST00000409762.1_Missense_Mutation_p.E1320D|DYSF_ENST00000429174.2_Missense_Mutation_p.E1303D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1303					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.E1303D(1)|p.E1321D(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGCAGTCTGAGGACACAGACC	0.537																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(3907-3909)GAG>GAT		dysferlin isoform 8							66.0	56.0	59.0					2																	71838380		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71838380G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3909G>T	2.37:g.71838380G>T	ENSP00000258104:p.Glu1303Asp					DYSF_uc010feg.2_Missense_Mutation_p.E1334D|DYSF_uc010feh.2_Missense_Mutation_p.E1289D|DYSF_uc002sig.3_Missense_Mutation_p.E1289D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1303D|DYSF_uc010fef.2_Missense_Mutation_p.E1320D|DYSF_uc010fei.2_Missense_Mutation_p.E1320D|DYSF_uc010fek.2_Missense_Mutation_p.E1321D|DYSF_uc010fej.2_Missense_Mutation_p.E1290D|DYSF_uc010fel.2_Missense_Mutation_p.E1290D|DYSF_uc010feo.2_Missense_Mutation_p.E1335D|DYSF_uc010fem.2_Missense_Mutation_p.E1304D|DYSF_uc010fen.2_Missense_Mutation_p.E1321D|DYSF_uc002sif.2_Missense_Mutation_p.E1304D|DYSF_uc010yqy.1_Missense_Mutation_p.E184D|DYSF_uc010yqz.1_Missense_Mutation_p.E43D	p.E1303D	NM_003494	NP_003485	O75923	DYSF_HUMAN			37	4285	+			1303			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3909G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	4.591	0.109812	0.08780	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83335	-1.69;-1.69;-1.71;-1.71;-1.69;-1.69;-1.69;-1.7;-1.71;-1.71;-1.69	4.52	0.398	0.16319	.	0.242622	0.40818	N	0.001008	T	0.60261	0.2255	N	0.16602	0.42	0.44908	D	0.997923	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.08055	0.001;0.003;0.003;0.003;0.003;0.001;0.0;0.001;0.001;0.003;0.001;0.002;0.003;0.003;0.001	T	0.31475	-0.9942	10	0.16896	T	0.51	-17.9635	0.9333	0.01340	0.1704:0.1673:0.3209:0.3414	.	46;1335;1321;1304;1290;1321;1290;1320;1289;1334;1320;1303;1289;1304;1303	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	D	1334;1320;1320;1303;1303;1335;1304;1290;1304;1321;1321	ENSP00000407046:E1334D;ENSP00000387137:E1320D;ENSP00000386547:E1320D;ENSP00000398305:E1303D;ENSP00000258104:E1303D;ENSP00000386683:E1335D;ENSP00000377678:E1304D;ENSP00000386285:E1290D;ENSP00000386512:E1304D;ENSP00000386881:E1321D;ENSP00000386617:E1321D	ENSP00000258104:E1303D	E	+	3	2	DYSF	71691888	0.949000	0.32298	0.973000	0.42090	0.964000	0.63967	0.194000	0.17135	0.090000	0.17273	0.511000	0.50034	GAG		PASS	0.537	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		7	26	7	26	---	---	---	---
CCT7	10574	broad.mit.edu	37	2	73476157	73476157	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:73476157C>G	ENST00000258091.5	+	8	963	c.822C>G	c.(820-822)ctC>ctG	p.L274L	CCT7_ENST00000540468.1_Silent_p.L187L|CCT7_ENST00000539919.1_Silent_p.L230L|CCT7_ENST00000398422.2_Silent_p.L70L|CCT7_ENST00000538797.1_Silent_p.L146L|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000537131.1_Silent_p.L174L	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	274					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.L274L(1)|p.L70L(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGAACATTCTCTATGACAAGT	0.468																																						uc002siz.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(820-822)CTC>CTG		chaperonin containing TCP1, subunit 7 isoform a							103.0	96.0	98.0					2																	73476157		1923	4126	6049	SO:0001819	synonymous_variant	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73476157C>G	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.822C>G	2.37:g.73476157C>G						CCT7_uc002sja.2_Silent_p.L70L|CCT7_uc010yrf.1_Silent_p.L230L|CCT7_uc010feu.2_Silent_p.L232L|CCT7_uc010yrg.1_Silent_p.L174L|CCT7_uc010yrh.1_Silent_p.L146L|CCT7_uc010yri.1_Silent_p.L187L	p.L274L	NM_006429	NP_006420	Q99832	TCPH_HUMAN			8	924	+			274					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	ENST00000258091.5	37	c.822C>G	CCDS46336.1																																																																																				PASS	0.468	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			20	35	20	35	---	---	---	---
ACTG2	72	broad.mit.edu	37	2	74141957	74141957	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:74141957G>T	ENST00000409624.1	+	8	1407	c.764G>T	c.(763-765)cGc>cTc	p.R255L	ACTG2_ENST00000409731.3_Missense_Mutation_p.R212L|ACTG2_ENST00000345517.3_Missense_Mutation_p.R255L			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	255					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R255L(1)		large_intestine(3)|lung(14)|skin(1)	18						GGCAATGAGCGCTTCCGCTGC	0.567																																						uc002sjw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)CGC>CTC		actin, gamma 2 propeptide							77.0	71.0	73.0					2																	74141957		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74141957G>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.764G>T	2.37:g.74141957G>T	ENSP00000386857:p.Arg255Leu					ACTG2_uc010fey.2_Missense_Mutation_p.R255L|ACTG2_uc010yrn.1_Missense_Mutation_p.R212L	p.R255L	NM_001615	NP_001606	P63267	ACTH_HUMAN			7	886	+			255					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.764G>T	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445339	0.63178	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.97232	-4.3;-4.3;-4.3	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.98504	0.9501	M	0.89478	3.035	0.58432	D	0.999994	D;D	0.64830	0.99;0.994	D;D	0.66084	0.932;0.941	D	0.99406	1.0929	10	0.87932	D	0	.	16.9483	0.86236	0.0:0.0:1.0:0.0	.	212;255	E9PG30;P63267	.;ACTH_HUMAN	L	212;255;255	ENSP00000386929:R212L;ENSP00000295137:R255L;ENSP00000386857:R255L	ENSP00000295137:R255L	R	+	2	0	ACTG2	73995465	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.555000	0.98123	2.598000	0.87819	0.462000	0.41574	CGC		PASS	0.567	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		5	37	5	37	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77745792	77745792	+	Silent	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:77745792T>A	ENST00000409093.1	-	3	1539	c.1203A>T	c.(1201-1203)acA>acT	p.T401T	LRRTM4_ENST00000409088.3_Silent_p.T401T|LRRTM4_ENST00000409282.1_Silent_p.T402T|LRRTM4_ENST00000409911.1_Silent_p.T402T|LRRTM4_ENST00000409884.1_Silent_p.T401T			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	401					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.T401T(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGGGCTTGGTGTTTCAAAGG	0.488																																						uc002snr.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1201-1203)ACA>ACT		leucine rich repeat transmembrane neuronal 4							132.0	130.0	130.0					2																	77745792		1892	4114	6006	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745792T>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1203A>T	2.37:g.77745792T>A						LRRTM4_uc002snq.2_Silent_p.T401T|LRRTM4_uc002sns.2_Silent_p.T401T|LRRTM4_uc002snt.2_Silent_p.T402T	p.T401T	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1618	-			401			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1203A>T	CCDS46346.1																																																																																				PASS	0.488	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		24	31	24	31	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79347993	79347993	+	Silent	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:79347993T>A	ENST00000233735.1	+	2	109	c.6T>A	c.(4-6)gcT>gcA	p.A2A		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	2					positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.A2A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCAGCATGGCTCAGACCAGCT	0.463																																						uc002snz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(4-6)GCT>GCA		regenerating islet-derived 1 alpha precursor							113.0	94.0	100.0					2																	79347993		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79347993T>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.6T>A	2.37:g.79347993T>A						REG1A_uc010ffx.1_Silent_p.A2A|REG1A_uc010ysd.1_Silent_p.A2A	p.A2A	NM_002909	NP_002900	P05451	REG1A_HUMAN			2	109	+			2					P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.6T>A	CCDS1964.1																																																																																				PASS	0.463	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		8	25	8	25	---	---	---	---
IGKV1D-17	28900	broad.mit.edu	37	2	90121911	90121911	+	RNA	SNP	C	C	A	rs375965493		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:90121911C>A	ENST00000483379.1	+	0	310									immunoglobulin kappa variable 1D-17																		GAGTCACCATCACTTGTCGGG	0.478																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.		C		0,3960		0,0,1980	197.0	170.0	179.0			1.7	0.1	2		179	1,8289		0,1,4144	no	intergenic				0,1,6124	AA,AC,CC		0.0121,0.0,0.0082			90121911	1,12249	1980	4145	6125			0							g.chr2:90121911C>A	X63392		2p11.2	2012-02-08			ENSG00000242766	ENSG00000242766		"""Immunoglobulins / IGK locus"""	5749	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151610		2.37:g.90121911C>A														16		+									RNA	SNP	ENST00000483379.1	37	c.1780C>A																																																																																					PASS	0.478	IGKV1D-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323282.1	NG_000833		54	158	54	158	---	---	---	---
IGKV1D-43	28891	broad.mit.edu	37	2	90249214	90249214	+	RNA	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:90249214G>A	ENST00000468879.1	+	0	351									immunoglobulin kappa variable 1D-43																		TATTTAGCCTGGTATCAGCAA	0.507																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							143.0	146.0	145.0					2																	90249214		1880	4117	5997			0							g.chr2:90249214G>A	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249214G>A														28		+									RNA	SNP	ENST00000468879.1	37	c.3757G>A																																																																																					PASS	0.507	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		24	189	24	189	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98351741	98351741	+	Missense_Mutation	SNP	C	C	A	rs56202620		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:98351741C>A	ENST00000264972.5	+	10	1326	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	ZAP70_ENST00000442208.1_Missense_Mutation_p.L245M|ZAP70_ENST00000451498.2_Missense_Mutation_p.L64M|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.L371M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CATCAAGGTGCTGAAGCAGGG	0.672																																						uc002syd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1111-1113)CTG>ATG		zeta-chain associated protein kinase 70kDa							125.0	96.0	106.0					2																	98351741		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351741C>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1111C>A	2.37:g.98351741C>A	ENSP00000264972:p.Leu371Met					ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.L261M|ZAP70_uc002syf.1_Missense_Mutation_p.L64M	p.L371M	NM_001079	NP_001070	P43403	ZAP70_HUMAN			10	1318	+			371			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1111C>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132508	0.77662	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.67345	-0.26;-0.26;-0.26	5.65	1.46	0.22682	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39687	N	0.001299	T	0.77232	0.4100	M	0.73217	2.22	0.51482	D	0.999922	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75365	-0.3343	10	0.87932	D	0	.	9.3626	0.38206	0.0:0.743:0.0:0.257	.	245;371	P43403-3;P43403	.;ZAP70_HUMAN	M	371;245;64	ENSP00000264972:L371M;ENSP00000411141:L245M;ENSP00000400475:L64M	ENSP00000264972:L371M	L	+	1	2	ZAP70	97718173	0.938000	0.31826	0.998000	0.56505	0.998000	0.95712	0.150000	0.16263	0.045000	0.15804	0.643000	0.83706	CTG		PASS	0.672	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			8	62	8	62	---	---	---	---
MRPL30	51263	broad.mit.edu	37	2	99812039	99812039	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:99812039C>G	ENST00000338148.3	+	6	555	c.357C>G	c.(355-357)atC>atG	p.I119M	C2orf15_ENST00000512183.2_Missense_Mutation_p.I119M|MRPL30_ENST00000465432.1_3'UTR	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	119						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.I119M(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTCACAGAATCAAGCCCTTGA	0.438																																						uc002szu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)ATC>ATG		RecName: Full=39S ribosomal protein L30, mitochondrial;          Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor;							169.0	159.0	162.0					2																	99812039		2203	4300	6503	SO:0001583	missense	51263				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:99812039C>G	AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"""Mitochondrial ribosomal proteins / large subunits"""	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.357C>G	2.37:g.99812039C>G	ENSP00000338057:p.Ile119Met					MRPL30_uc002szl.1_RNA|MRPL30_uc002szt.1_RNA|MRPL30_uc002szv.2_Missense_Mutation_p.I119M	p.I119M	NM_145213	NP_660214	Q8TCC3	RM30_HUMAN			6	519	+			119					A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	37	c.357C>G	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070890	0.55646	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000338148;ENST00000409841	T;T;T	0.60171	0.21;0.21;0.21	3.9	3.02	0.34903	Ribosomal protein L30, ferredoxin-like fold domain (2);	0.105158	0.64402	D	0.000006	T	0.67249	0.2873	M	0.74881	2.28	0.35598	D	0.807622	D	0.60160	0.987	P	0.60012	0.867	T	0.74134	-0.3763	10	0.87932	D	0	-10.3142	6.1688	0.20406	0.0:0.7713:0.0:0.2287	.	119	Q8TCC3	RM30_HUMAN	M	119;132;119;119	ENSP00000420959:I119M;ENSP00000338057:I119M;ENSP00000386752:I119M	ENSP00000312464:I132M	I	+	3	3	C2orf15;MRPL30	99178471	0.963000	0.33076	0.995000	0.50966	0.931000	0.56810	0.310000	0.19356	0.994000	0.38892	0.579000	0.79373	ATC		PASS	0.438	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2			81	133	81	133	---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101592003	101592003	+	Missense_Mutation	SNP	G	G	T	rs200890084		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:101592003G>T	ENST00000335681.5	+	14	1651	c.1366G>T	c.(1366-1368)Ggg>Tgg	p.G456W	NPAS2_ENST00000542504.1_Missense_Mutation_p.G521W|AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	456					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G456W(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTGTCCCCGGGCTCAGCCA	0.617																																						uc002tap.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1366-1368)GGG>TGG		neuronal PAS domain protein 2							80.0	79.0	79.0					2																	101592003		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101592003G>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1366G>T	2.37:g.101592003G>T	ENSP00000338283:p.Gly456Trp					NPAS2_uc010yvt.1_Missense_Mutation_p.G521W|NPAS2_uc010fit.1_Missense_Mutation_p.G34W	p.G456W	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			14	1652	+			456					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1366G>T	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986824	0.74589	.	.	ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000450763	T;T;T	0.32515	3.47;3.45;1.45	5.71	4.83	0.62350	.	0.616562	0.18740	N	0.132477	T	0.46210	0.1381	L	0.54323	1.7	0.49483	D	0.999793	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.77557	0.99;0.953;0.976	T	0.39210	-0.9625	10	0.66056	D	0.02	.	7.3544	0.26711	0.1601:0.0:0.8399:0.0	.	521;456;456	F5H027;A0PJF9;Q99743	.;.;NPAS2_HUMAN	W	456;521;55	ENSP00000338283:G456W;ENSP00000438428:G521W;ENSP00000392125:G55W	ENSP00000338283:G456W	G	+	1	0	NPAS2	100958435	0.995000	0.38212	0.964000	0.40570	0.977000	0.68977	2.782000	0.47758	2.709000	0.92574	0.655000	0.94253	GGG		PASS	0.617	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			15	36	15	36	---	---	---	---
SLC5A7	60482	broad.mit.edu	37	2	108618456	108618456	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:108618456C>T	ENST00000264047.2	+	6	977	c.701C>T	c.(700-702)tCa>tTa	p.S234L	SLC5A7_ENST00000540517.1_Missense_Mutation_p.S129L|SLC5A7_ENST00000409059.1_Missense_Mutation_p.S234L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	234					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.S234L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACTGTTGACTCATCTGAAGTC	0.428																																						uc002tdv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(700-702)TCA>TTA		solute carrier family 5 (choline transporter),	Choline(DB00122)						227.0	220.0	222.0					2																	108618456		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108618456C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.701C>T	2.37:g.108618456C>T	ENSP00000264047:p.Ser234Leu					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.S234L|SLC5A7_uc010ywn.1_Missense_Mutation_p.S121L	p.S234L	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			6	977	+			234			Cytoplasmic (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.701C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602244	0.28534	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.89196	-2.48;-2.48;-2.48	5.36	5.36	0.76844	.	0.641140	0.16624	N	0.206370	T	0.79851	0.4517	N	0.05078	-0.115	0.21984	N	0.99944	B	0.02656	0.0	B	0.06405	0.002	T	0.64015	-0.6506	10	0.30078	T	0.28	-7.5462	19.092	0.93231	0.0:1.0:0.0:0.0	.	234	Q9GZV3	SC5A7_HUMAN	L	234;129;234	ENSP00000387346:S234L;ENSP00000445351:S129L;ENSP00000264047:S234L	ENSP00000264047:S234L	S	+	2	0	SLC5A7	107984888	0.626000	0.27120	0.042000	0.18584	0.602000	0.36980	5.900000	0.69853	2.511000	0.84671	0.551000	0.68910	TCA		PASS	0.428	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			17	40	17	40	---	---	---	---
SLC5A7	60482	broad.mit.edu	37	2	108626752	108626752	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:108626752C>A	ENST00000264047.2	+	9	1454	c.1178C>A	c.(1177-1179)aCa>aAa	p.T393K	SLC5A7_ENST00000540517.1_Missense_Mutation_p.T288K|SLC5A7_ENST00000409059.1_Missense_Mutation_p.T393K	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	393					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.T393K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCATCTGCAACAGCCATGGCC	0.458																																						uc002tdv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1177-1179)ACA>AAA		solute carrier family 5 (choline transporter),	Choline(DB00122)						226.0	176.0	193.0					2																	108626752		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626752C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1178C>A	2.37:g.108626752C>A	ENSP00000264047:p.Thr393Lys					SLC5A7_uc010ywm.1_Missense_Mutation_p.T146K|SLC5A7_uc010fjj.2_Missense_Mutation_p.T393K|SLC5A7_uc010ywn.1_Missense_Mutation_p.T280K	p.T393K	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1454	+			393			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1178C>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188186	0.78789	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.87887	-2.31;-2.31;-2.31	5.85	4.03	0.46877	.	0.091990	0.85682	D	0.000000	D	0.93413	0.7899	M	0.90650	3.135	0.80722	D	1	P	0.50066	0.931	P	0.61397	0.888	D	0.93448	0.6799	10	0.66056	D	0.02	-8.9956	12.1637	0.54117	0.0:0.8585:0.0:0.1415	.	393	Q9GZV3	SC5A7_HUMAN	K	393;288;393	ENSP00000387346:T393K;ENSP00000445351:T288K;ENSP00000264047:T393K	ENSP00000264047:T393K	T	+	2	0	SLC5A7	107993184	1.000000	0.71417	0.252000	0.24328	0.933000	0.57130	4.938000	0.63519	0.790000	0.33803	0.650000	0.86243	ACA		PASS	0.458	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			16	33	16	33	---	---	---	---
SH3RF3	344558	broad.mit.edu	37	2	110049062	110049062	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:110049062G>C	ENST00000309415.6	+	6	1509	c.1509G>C	c.(1507-1509)aaG>aaC	p.K503N		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	503	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)	p.K503N(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GCTGGTTCAAGGGGGCGTCTC	0.617																																						uc010ywt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1507-1509)AAG>AAC		SH3 domain containing ring finger 3							37.0	42.0	41.0					2																	110049062		1990	4173	6163	SO:0001583	missense	344558						zinc ion binding	g.chr2:110049062G>C	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1509G>C	2.37:g.110049062G>C	ENSP00000309186:p.Lys503Asn						p.K503N	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			6	1509	+			503			SH3 3.		A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1509G>C		.	.	.	.	.	.	.	.	.	.	G	19.40	3.819506	0.71028	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.48522	0.81;0.81	4.9	4.02	0.46733	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69544	-0.5117	9	0.62326	D	0.03	-38.2387	10.6472	0.45628	0.1548:0.0:0.8452:0.0	.	503	Q8TEJ3	SH3R3_HUMAN	N	503	ENSP00000414997:K503N;ENSP00000309186:K503N	ENSP00000309186:K503N	K	+	3	2	SH3RF3	109415494	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.939000	0.48995	1.414000	0.47017	0.561000	0.74099	AAG		PASS	0.617	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		10	20	10	20	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	124999952	124999952	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:124999952A>T	ENST00000431078.1	+	3	727	c.363A>T	c.(361-363)aaA>aaT	p.K121N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	121	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.K121N(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)		AACAGTACAAACAAGAAGACA	0.443																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(361-363)AAA>AAT		contactin associated protein-like 5 precursor							80.0	83.0	82.0					2																	124999952		2020	4190	6210	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:124999952A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.363A>T	2.37:g.124999952A>T	ENSP00000399013:p.Lys121Asn					CNTNAP5_uc010flu.2_Missense_Mutation_p.K121N	p.K121N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	3	727	+			121			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.363A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635791	0.47049	.	.	ENSG00000155052	ENST00000431078	D	0.98345	-4.88	5.83	0.769	0.18492	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.841896	0.10233	N	0.699389	D	0.95526	0.8546	L	0.58101	1.795	0.27440	N	0.953733	B	0.06786	0.001	B	0.10450	0.005	D	0.89384	0.3684	10	0.46703	T	0.11	.	1.2174	0.01917	0.3575:0.1387:0.3532:0.1506	.	121	Q8WYK1	CNTP5_HUMAN	N	121	ENSP00000399013:K121N	ENSP00000399013:K121N	K	+	3	2	CNTNAP5	124716422	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	0.650000	0.24858	0.338000	0.23692	-0.248000	0.11899	AAA		PASS	0.443	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			19	32	19	32	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125281886	125281886	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:125281886A>C	ENST00000431078.1	+	9	1695	c.1331A>C	c.(1330-1332)aAc>aCc	p.N444T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	444	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.N444T(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)		GCAGGCAGCAACTTGAATGAT	0.557																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(1330-1332)AAC>ACC		contactin associated protein-like 5 precursor							72.0	77.0	75.0					2																	125281886		2068	4217	6285	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125281886A>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1331A>C	2.37:g.125281886A>C	ENSP00000399013:p.Asn444Thr					CNTNAP5_uc010flu.2_Missense_Mutation_p.N445T	p.N444T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1695	+			444			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1331A>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505509	0.44558	.	.	ENSG00000155052	ENST00000431078	T	0.78003	-1.14	5.94	0.266	0.15617	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.481821	0.18507	N	0.139177	T	0.65964	0.2742	L	0.41710	1.295	0.25870	N	0.983727	B	0.15930	0.015	B	0.24155	0.051	T	0.50996	-0.8761	10	0.21014	T	0.42	.	10.1079	0.42544	0.5013:0.0:0.4987:0.0	.	444	Q8WYK1	CNTP5_HUMAN	T	444	ENSP00000399013:N444T	ENSP00000399013:N444T	N	+	2	0	CNTNAP5	124998356	0.472000	0.25870	0.979000	0.43373	0.979000	0.70002	0.764000	0.26532	-0.165000	0.10908	0.528000	0.53228	AAC		PASS	0.557	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			21	23	21	23	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125530503	125530503	+	Silent	SNP	C	C	A	rs372557900		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:125530503C>A	ENST00000431078.1	+	17	3022	c.2658C>A	c.(2656-2658)acC>acA	p.T886T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	886	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T886T(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)		TCAAGGAGACCTCCCTGCAGG	0.547																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(2656-2658)ACC>ACA		contactin associated protein-like 5 precursor							159.0	152.0	154.0					2																	125530503		1945	4147	6092	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530503C>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.2658C>A	2.37:g.125530503C>A						CNTNAP5_uc010flu.2_Silent_p.T887T	p.T886T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	3022	+			886			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2658C>A	CCDS46401.1																																																																																				PASS	0.547	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			34	35	34	35	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125669111	125669111	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:125669111C>T	ENST00000431078.1	+	23	4084	c.3720C>T	c.(3718-3720)atC>atT	p.I1240I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1240					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.I1240I(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)		CGGCAGTCATCGGAGGTAAAC	0.413																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(3718-3720)ATC>ATT		contactin associated protein-like 5 precursor							77.0	73.0	74.0					2																	125669111		1898	4094	5992	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125669111C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3720C>T	2.37:g.125669111C>T						CNTNAP5_uc010flu.2_Silent_p.I1241I	p.I1240I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	23	4084	+			1240			Helical; (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3720C>T	CCDS46401.1																																																																																				PASS	0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			5	7	5	7	---	---	---	---
GPR148	344561	broad.mit.edu	37	2	131487661	131487661	+	Missense_Mutation	SNP	C	C	T	rs147627830		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:131487661C>T	ENST00000309926.4	+	1	1019	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R313C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GATGCTTCCCCGTGCCATGCT	0.587																																						uc002trv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(937-939)CGT>TGT		G protein-coupled receptor 148		C	CYS/ARG	3,4403		0,3,2200	110.0	86.0	94.0		937	0.6	0.5	2	dbSNP_134	94	0,8600		0,0,4300	yes	missense	GPR148	NM_207364.2	180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	313/348	131487661	3,13003	2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487661C>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.937C>T	2.37:g.131487661C>T	ENSP00000308908:p.Arg313Cys						p.R313C	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	939	+	Colorectal(110;0.1)		313			Helical; Name=7; (Potential).		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.937C>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	16.30	3.084492	0.55861	6.81E-4	0.0	ENSG00000173302	ENST00000309926	T	0.35605	1.3	3.19	0.649	0.17806	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	U	0.000277	T	0.33059	0.0850	L	0.27053	0.805	0.36591	D	0.874081	D	0.89917	1.0	P	0.58928	0.848	T	0.36792	-0.9733	10	0.72032	D	0.01	-4.63	3.6662	0.08257	0.4166:0.4375:0.0:0.1459	.	313	Q8TDV2	GP148_HUMAN	C	313	ENSP00000308908:R313C	ENSP00000308908:R313C	R	+	1	0	GPR148	131204131	0.987000	0.35691	0.540000	0.28089	0.947000	0.59692	0.707000	0.25704	0.454000	0.26884	0.462000	0.41574	CGT		PASS	0.587	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		33	23	33	23	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136467716	136467716	+	Missense_Mutation	SNP	C	C	T	rs145608320		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:136467716C>T	ENST00000264160.4	+	22	2916	c.2546C>T	c.(2545-2547)cCg>cTg	p.P849L	R3HDM1_ENST00000410054.1_Missense_Mutation_p.P794L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P720L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P850L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P721L	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	849							poly(A) RNA binding (GO:0044822)	p.P849L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CACTCACCCCCGCAGTGGAAA	0.468											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002tuo.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2545-2547)CCG>CTG		R3H domain containing 1		C	LEU/PRO	0,4406		0,0,2203	124.0	114.0	117.0		2546	4.6	0.7	2	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	R3HDM1	NM_015361.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	849/1100	136467716	1,13005	2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136467716C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2546C>T	2.37:g.136467716C>T	ENSP00000264160:p.Pro849Leu		OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626	R3HDM1_uc010fni.2_Missense_Mutation_p.P848L|R3HDM1_uc002tup.2_Missense_Mutation_p.P794L|R3HDM1_uc010zbh.1_Missense_Mutation_p.P597L	p.P849L	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	22	2916	+			849					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2546C>T	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.540618|2.540618	0.45280|0.45280	0.0|0.0	1.16E-4|1.16E-4	ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000445855	T;T;T;T;T|.	0.29655|.	1.57;1.56;1.57;1.56;1.56|.	5.49|5.49	4.61|4.61	0.57282|0.57282	.|.	0.381500|.	0.29403|.	N|.	0.012241|.	T|T	0.68320|0.68320	0.2988|0.2988	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999998|0.999998	P;P;P;P|.	0.48911|.	0.917;0.751;0.9;0.9|.	B;B;B;B|.	0.42030|.	0.336;0.106;0.23;0.373|.	T|T	0.66728|0.66728	-0.5850|-0.5850	10|5	0.48119|.	T|.	0.1|.	-7.7072|-7.7072	13.8533|13.8533	0.63510|0.63510	0.0:0.9255:0.0:0.0745|0.0:0.9255:0.0:0.0745	.|.	721;850;794;849|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	L|C	721;849;720;794;850|145	ENSP00000386457:P721L;ENSP00000264160:P849L;ENSP00000331396:P720L;ENSP00000386877:P794L;ENSP00000387010:P850L|.	ENSP00000264160:P849L|.	P|R	+|+	2|1	0|0	R3HDM1|R3HDM1	136184186|136184186	1.000000|1.000000	0.71417|0.71417	0.699000|0.699000	0.30290|0.30290	0.895000|0.895000	0.52256|0.52256	6.130000|6.130000	0.71663|0.71663	1.306000|1.306000	0.44926|0.44926	0.650000|0.650000	0.86243|0.86243	CCG|CGC		PASS	0.468	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		4	47	4	47	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	142004852	142004852	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:142004852T>A	ENST00000389484.3	-	5	1506	c.535A>T	c.(535-537)Agt>Tgt	p.S179C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	179	EGF-like 2; calcium-binding. {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.S179C(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)		TCCACACAACTGCAAGTGTAG	0.388										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.(535-537)AGT>TGT		low density lipoprotein-related protein 1B							166.0	148.0	154.0					2																	142004852		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142004852T>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.535A>T	2.37:g.142004852T>A	ENSP00000374135:p.Ser179Cys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.S179C	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)	5	1507	-		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)	179			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.535A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597744	0.46318	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97850	-4.57	5.53	-0.807	0.10872	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.051825	0.85682	D	0.000000	D	0.97974	0.9333	M	0.92077	3.27	0.38219	D	0.940694	P	0.48764	0.915	P	0.52957	0.714	D	0.96713	0.9527	10	0.39692	T	0.17	.	10.0023	0.41935	0.0:0.326:0.0:0.674	.	179	Q9NZR2	LRP1B_HUMAN	C	179;117	ENSP00000374135:S179C	ENSP00000374135:S179C	S	-	1	0	LRP1B	141721322	1.000000	0.71417	0.962000	0.40283	0.813000	0.45954	2.762000	0.47597	-0.073000	0.12842	0.528000	0.53228	AGT		PASS	0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		34	33	34	33	---	---	---	---
EPC2	26122	broad.mit.edu	37	2	149539297	149539297	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:149539297A>T	ENST00000258484.6	+	11	1839	c.1805A>T	c.(1804-1806)cAg>cTg	p.Q602L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	602	Gln-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.Q602L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GCCCAGCTTCAGCAGAAACAG	0.433																																						uc010zbt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(1804-1806)CAG>CTG		enhancer of polycomb homolog 2							118.0	119.0	118.0					2																	149539297		2032	4194	6226	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149539297A>T	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1805A>T	2.37:g.149539297A>T	ENSP00000258484:p.Gln602Leu						p.Q602L	NM_015630	NP_056445	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	11	1832	+			602			Gln-rich.		B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1805A>T	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.195138	0.58017	.	.	ENSG00000135999	ENST00000258484	T	0.35421	1.31	5.19	5.19	0.71726	.	0.128699	0.53938	D	0.000056	T	0.54870	0.1885	L	0.59436	1.845	0.80722	D	1	P	0.49559	0.925	D	0.65140	0.932	T	0.53641	-0.8410	10	0.45353	T	0.12	0.1556	15.3521	0.74396	1.0:0.0:0.0:0.0	.	602	Q52LR7	EPC2_HUMAN	L	602	ENSP00000258484:Q602L	ENSP00000258484:Q602L	Q	+	2	0	EPC2	149255767	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.745000	0.68672	2.081000	0.62600	0.460000	0.39030	CAG		PASS	0.433	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		8	124	8	124	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152374923	152374923	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:152374923T>C	ENST00000172853.10	-	128	17753	c.17606A>G	c.(17605-17607)aAg>aGg	p.K5869R	NEB_ENST00000604864.1_Missense_Mutation_p.K7570R|NEB_ENST00000397345.3_Missense_Mutation_p.K7570R|NEB_ENST00000427231.2_Missense_Mutation_p.K7570R|NEB_ENST00000409198.1_Missense_Mutation_p.K5869R|NEB_ENST00000603639.1_Missense_Mutation_p.K7570R			P20929	NEBU_HUMAN	nebulin	5869					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.K5869R(1)|p.K7570R(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCATACTTCTTCTTGTACTG	0.438																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(17605-17607)AAG>AGG		nebulin isoform 3							281.0	267.0	272.0					2																	152374923		1931	4151	6082	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152374923T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17606A>G	2.37:g.152374923T>C	ENSP00000172853:p.Lys5869Arg					NEB_uc002txr.2_Missense_Mutation_p.K2292R|NEB_uc002txt.3_Missense_Mutation_p.K374R	p.K5869R	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	128	17797	-			5869			Nebulin 160.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.17606A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.5|20.5	4.006228|4.006228	0.74932|0.74932	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.52057|.	1.07;1.07;1.07;0.68;1.07|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.091320|.	0.85682|.	D|.	0.000000|.	T|T	0.72153|0.72153	0.3425|0.3425	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.998;0.997|.	D;D;D|.	0.87578|.	0.965;0.998;0.994|.	T|T	0.71300|0.71300	-0.4634|-0.4634	10|5	0.59425|.	D|.	0.04|.	.|.	15.9662|15.9662	0.79974|0.79974	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	5869;7570;2300|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	R|G	5869;7570;7570;1918;2300;5869|193	ENSP00000386259:K5869R;ENSP00000380505:K7570R;ENSP00000416578:K7570R;ENSP00000410961:K2300R;ENSP00000172853:K5869R|.	ENSP00000172853:K5869R|.	K|R	-|-	2|1	0|2	NEB|NEB	152083169|152083169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	8.040000|8.040000	0.89188|0.89188	2.170000|2.170000	0.68504|0.68504	0.533000|0.533000	0.62120|0.62120	AAG|AGA		PASS	0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		8	125	8	125	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160031569	160031569	+	Missense_Mutation	SNP	G	G	T	rs190179338	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:160031569G>T	ENST00000263635.6	+	12	1846	c.1609G>T	c.(1609-1611)Gcc>Tcc	p.A537S	TANC1_ENST00000454300.1_Missense_Mutation_p.A431S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	537					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.A537S(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCAGCTGGCCGCCTACAGAGA	0.592																																						uc002uag.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1609-1611)GCC>TCC		tetratricopeptide repeat, ankyrin repeat and							127.0	130.0	129.0					2																	160031569		2024	4187	6211	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160031569G>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1609G>T	2.37:g.160031569G>T	ENSP00000263635:p.Ala537Ser					TANC1_uc010fol.1_Missense_Mutation_p.A431S|TANC1_uc010zcm.1_Missense_Mutation_p.A529S|TANC1_uc010fom.1_Missense_Mutation_p.A343S|TANC1_uc002uai.1_5'Flank	p.A537S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			12	1883	+			537					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.1609G>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472591	0.96274	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72725	-0.65;-0.68	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	M	0.65975	2.015	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.785	D;D;P	0.87578	0.995;0.998;0.473	T	0.82394	-0.0479	10	0.44086	T	0.13	.	19.6165	0.95636	0.0:0.0:1.0:0.0	.	529;431;537	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	S	431;537	ENSP00000396339:A431S;ENSP00000263635:A537S	ENSP00000263635:A537S	A	+	1	0	TANC1	159739815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.638000	0.89438	0.655000	0.94253	GCC		PASS	0.592	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			5	130	5	130	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160076237	160076237	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:160076237G>A	ENST00000263635.6	+	22	3774	c.3537G>A	c.(3535-3537)ctG>ctA	p.L1179L	TANC1_ENST00000454300.1_Silent_p.L1073L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1179					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.L1179L(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGAGGGTCTGTCAGCATTAA	0.468																																						uc002uag.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3535-3537)CTG>CTA		tetratricopeptide repeat, ankyrin repeat and							97.0	99.0	98.0					2																	160076237		1988	4157	6145	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160076237G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3537G>A	2.37:g.160076237G>A						TANC1_uc010zcm.1_Silent_p.L1171L|TANC1_uc010fom.1_Silent_p.L985L|TANC1_uc010fon.2_Silent_p.L23L	p.L1179L	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			22	3811	+			1179			ANK 9.		C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.3537G>A	CCDS42766.1																																																																																				PASS	0.468	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			26	17	26	17	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162760565	162760565	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:162760565G>T	ENST00000446997.1	+	13	1587	c.1494G>T	c.(1492-1494)tgG>tgT	p.W498C	SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000375514.5_Missense_Mutation_p.W479C|SLC4A10_ENST00000421911.1_Missense_Mutation_p.W498C|SLC4A10_ENST00000415876.2_Missense_Mutation_p.W468C|SLC4A10_ENST00000272716.5_Missense_Mutation_p.W468C	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	498					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.W468C(1)|p.W498C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CATACTTCTGGAGTGACTTCA	0.418																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1492-1494)TGG>TGT		solute carrier family 4, sodium bicarbonate							67.0	63.0	64.0					2																	162760565		1846	4101	5947	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162760565G>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1494G>T	2.37:g.162760565G>T	ENSP00000393066:p.Trp498Cys					SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.W468C|SLC4A10_uc010zcs.1_Missense_Mutation_p.W479C	p.W498C	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			13	1678	+			498			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1494G>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425178	0.43020	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.48	5.48	0.80851	Bicarbonate transporter, C-terminal (1);	0.058100	0.64402	D	0.000002	T	0.79581	0.4470	M	0.74258	2.255	0.80722	D	1	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.17433	0.018;0.018;0.01	T	0.74959	-0.3486	10	0.40728	T	0.16	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	479;468;498	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	C	479;468;468;467;498;498;497	ENSP00000364664:W479C;ENSP00000395797:W468C;ENSP00000272716:W468C;ENSP00000393066:W498C;ENSP00000404486:W498C	ENSP00000272716:W468C	W	+	3	0	SLC4A10	162468811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.587000	0.87381	0.563000	0.77884	TGG		PASS	0.418	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		8	7	8	7	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162873370	162873370	+	Missense_Mutation	SNP	C	C	G	rs17848907		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:162873370C>G	ENST00000360534.3	-	18	2035	c.1475G>C	c.(1474-1476)aGa>aCa	p.R492T	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	492					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.R492T(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)	TTCCAGGACTCTCAGCCCTAA	0.368																																						uc002ubz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1474-1476)AGA>ACA		dipeptidylpeptidase IV	Sitagliptin(DB01261)						67.0	68.0	68.0					2																	162873370		2203	4300	6503	SO:0001583	missense	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.chr2:162873370C>G	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.1475G>C	2.37:g.162873370C>G	ENSP00000353731:p.Arg492Thr					DPP4_uc010fpb.2_Missense_Mutation_p.R168T	p.R492T	NM_001935	NP_001926	P27487	DPP4_HUMAN			18	2036	-			492			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.1475G>C	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703865	0.30232	.	.	ENSG00000197635	ENST00000360534	D	0.96073	-3.9	5.61	4.72	0.59763	.	0.379060	0.31071	N	0.008307	D	0.92476	0.7611	M	0.62209	1.925	0.27753	N	0.944092	B	0.24043	0.096	B	0.16722	0.016	T	0.82585	-0.0384	10	0.22109	T	0.4	-19.0355	10.1035	0.42519	0.0:0.8019:0.0:0.1981	.	492	P27487	DPP4_HUMAN	T	492	ENSP00000353731:R492T	ENSP00000353731:R492T	R	-	2	0	DPP4	162581616	0.063000	0.20901	0.998000	0.56505	0.664000	0.39144	0.843000	0.27640	2.804000	0.96469	0.650000	0.86243	AGA		PASS	0.368	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			5	34	5	34	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168101798	168101798	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:168101798C>T	ENST00000409195.1	+	9	3985	c.3896C>T	c.(3895-3897)aCa>aTa	p.T1299I	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1299I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1077I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1124					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.T1299I(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						ACCAAGAAAACAATTACTGAA	0.378																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(3895-3897)ACA>ATA		xin actin-binding repeat containing 2 isoform 1							85.0	80.0	81.0					2																	168101798		1836	4090	5926	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101798C>T	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.3896C>T	2.37:g.168101798C>T	ENSP00000386840:p.Thr1299Ile					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T1124I|XIRP2_uc010fpq.2_Missense_Mutation_p.T1077I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.T1299I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3914	+			1124					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3896C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.064	-1.216857	0.01542	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02525	4.26;4.26;4.26	5.78	0.855	0.19013	.	0.509242	0.21552	N	0.072714	T	0.02083	0.0065	L	0.38838	1.175	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.14578	0.005;0.011;0.01	T	0.48364	-0.9042	10	0.15952	T	0.53	-0.5648	3.3089	0.07010	0.1217:0.559:0.1178:0.2014	.	1124;1124;1077	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	1299;1299;1077	ENSP00000386840:T1299I;ENSP00000295237:T1299I;ENSP00000387255:T1077I	ENSP00000295237:T1299I	T	+	2	0	XIRP2	167810044	0.002000	0.14202	0.018000	0.16275	0.934000	0.57294	0.825000	0.27393	-0.116000	0.11893	-0.244000	0.11960	ACA		PASS	0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	59	15	59	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168102608	168102608	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:168102608G>T	ENST00000409195.1	+	9	4795	c.4706G>T	c.(4705-4707)gGa>gTa	p.G1569V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1569V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1347V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1394					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.G1569V(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						CAGGCTCCTGGAATCATCATT	0.353																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(4705-4707)GGA>GTA		xin actin-binding repeat containing 2 isoform 1							46.0	44.0	44.0					2																	168102608		1818	4083	5901	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102608G>T	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.4706G>T	2.37:g.168102608G>T	ENSP00000386840:p.Gly1569Val					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G1394V|XIRP2_uc010fpq.2_Missense_Mutation_p.G1347V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.G1569V	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4724	+			1394					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4706G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726240	0.69074	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.30981	1.55;1.55;1.51	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.62950	-0.6745	10	0.87932	D	0	-23.9303	18.2775	0.90087	0.0:0.0:1.0:0.0	.	1394;1394;1347	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	1569;1569;1347	ENSP00000386840:G1569V;ENSP00000295237:G1569V;ENSP00000387255:G1347V	ENSP00000295237:G1569V	G	+	2	0	XIRP2	167810854	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.472000	0.97709	2.623000	0.88846	0.558000	0.71614	GGA		PASS	0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	48	6	48	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106535	168106535	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:168106535A>G	ENST00000409195.1	+	9	8722	c.8633A>G	c.(8632-8634)gAa>gGa	p.E2878G	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2878G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2656G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2703					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.E2878G(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						CAGACCGCTGAAAGTAAAGCT	0.388																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8632-8634)GAA>GGA		xin actin-binding repeat containing 2 isoform 1							86.0	82.0	83.0					2																	168106535		1842	4085	5927	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106535A>G	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.8633A>G	2.37:g.168106535A>G	ENSP00000386840:p.Glu2878Gly					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2703G|XIRP2_uc010fpq.2_Missense_Mutation_p.E2656G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.E224G	p.E2878G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8651	+			2703					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8633A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.967274	0.34754	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03035	4.07;4.07;4.07	6.02	4.88	0.63580	.	0.506319	0.23153	N	0.051329	T	0.10594	0.0259	L	0.59436	1.845	0.28967	N	0.889468	P;P;D	0.63046	0.666;0.775;0.992	B;B;P	0.57101	0.194;0.356;0.813	T	0.02705	-1.1121	10	0.52906	T	0.07	-10.9356	10.5023	0.44813	0.9223:0.0:0.0777:0.0	.	2703;2703;2656	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	2878;2878;2656;292	ENSP00000386840:E2878G;ENSP00000295237:E2878G;ENSP00000387255:E2656G	ENSP00000295237:E2878G	E	+	2	0	XIRP2	167814781	1.000000	0.71417	0.934000	0.37439	0.500000	0.33767	1.169000	0.31871	1.118000	0.41863	0.533000	0.62120	GAA		PASS	0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	106	8	106	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106537	168106537	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:168106537A>T	ENST00000409195.1	+	9	8724	c.8635A>T	c.(8635-8637)Agt>Tgt	p.S2879C	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2879C|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2657C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2704					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.S2879C(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						GACCGCTGAAAGTAAAGCTGA	0.388																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8635-8637)AGT>TGT		xin actin-binding repeat containing 2 isoform 1							85.0	81.0	82.0					2																	168106537		1843	4085	5928	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106537A>T	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.8635A>T	2.37:g.168106537A>T	ENSP00000386840:p.Ser2879Cys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2704C|XIRP2_uc010fpq.2_Missense_Mutation_p.S2657C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.S225C	p.S2879C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8653	+			2704					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8635A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781704	0.31502	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02837	4.14;4.14;4.14	5.93	5.93	0.95920	.	0.612307	0.19015	N	0.124971	T	0.13329	0.0323	M	0.67953	2.075	0.44402	D	0.997319	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.65874	0.87;0.939;0.939	T	0.00089	-1.2089	10	0.72032	D	0.01	-6.9152	15.3479	0.74355	1.0:0.0:0.0:0.0	.	2704;2704;2657	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	2879;2879;2657;293	ENSP00000386840:S2879C;ENSP00000295237:S2879C;ENSP00000387255:S2657C	ENSP00000295237:S2879C	S	+	1	0	XIRP2	167814783	1.000000	0.71417	0.938000	0.37757	0.507000	0.33981	3.809000	0.55606	2.270000	0.75569	0.533000	0.62120	AGT		PASS	0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	104	8	104	---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169814626	169814626	+	Missense_Mutation	SNP	G	G	T	rs201240844		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:169814626G>T	ENST00000263817.6	-	19	2315	c.2191C>A	c.(2191-2193)Cct>Act	p.P731T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	731					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.P731T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCCTGCACAGGAATGTCCTTG	0.458																																						uc002ueo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(2191-2193)CCT>ACT		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						74.0	69.0	71.0					2																	169814626		1899	4117	6016	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169814626G>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2191C>A	2.37:g.169814626G>T	ENSP00000263817:p.Pro731Thr					ABCB11_uc010zda.1_Missense_Mutation_p.P173T|ABCB11_uc010zdb.1_Missense_Mutation_p.P207T	p.P731T	NM_003742	NP_003733	O95342	ABCBB_HUMAN			19	2317	-			731			Cytoplasmic (Potential).		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2191C>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	5.685	0.311008	0.10733	.	.	ENSG00000073734	ENST00000263817	D	0.86562	-2.14	5.11	2.23	0.28157	.	0.916786	0.09016	N	0.860867	T	0.69967	0.3170	N	0.11064	0.09	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.55412	-0.8145	10	0.21540	T	0.41	.	1.0679	0.01615	0.2498:0.1608:0.4238:0.1656	.	173;731	B4DZQ8;O95342	.;ABCBB_HUMAN	T	731	ENSP00000263817:P731T	ENSP00000263817:P731T	P	-	1	0	ABCB11	169522872	0.954000	0.32549	0.083000	0.20561	0.737000	0.42083	1.156000	0.31712	0.638000	0.30545	0.467000	0.42956	CCT		PASS	0.458	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		28	33	28	33	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170062925	170062926	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:170062925_170062926GA>AT	ENST00000263816.3	-	39	7589_7590	c.7304_7305TC>AT	c.(7303-7305)tTC>tAT	p.F2435Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2435					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.F2435Y(2)|p.F2435F(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)"""	AATTTTGTGTGAAGTAGATTCT	0.436																																						uc002ues.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7303-7305)TTC>TTT|c.(7303-7305)TTC>TAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)																																			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.chr2:170062925G>A|g.chr2:170062926A>T		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.7304_7305delinsAT	2.37:g.170062925_170062926delinsAT	ENSP00000263816:p.Phe2435Tyr						p.F2435F|p.F2435Y	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	7518|7517	-			2435			LDL-receptor class B 25.|Extracellular (Potential).		O00711|Q16215	Silent|Missense_Mutation	SNP	ENST00000263816.3	37	c.7305C>T|c.7304T>A	CCDS2232.1																																																																																				PASS	0.436	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		6	42|43	6	42	---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171709293	171709293	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:171709293C>A	ENST00000358196.3	+	13	1804	c.1254C>A	c.(1252-1254)gtC>gtA	p.V418V		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	418					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.V418V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CCATTCTCGTCAAGGAAAAGG	0.507																																						uc002ugi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1252-1254)GTC>GTA		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						178.0	137.0	151.0					2																	171709293		2203	4300	6503	SO:0001819	synonymous_variant	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171709293C>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1254C>A	2.37:g.171709293C>A						GAD1_uc010fqc.2_Silent_p.V37V	p.V418V	NM_000817	NP_000808	Q99259	DCE1_HUMAN			13	1676	+			418					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Silent	SNP	ENST00000358196.3	37	c.1254C>A	CCDS2239.1																																																																																				PASS	0.507	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			21	37	21	37	---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172712451	172712451	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:172712451G>C	ENST00000422440.2	-	4	255	c.218C>G	c.(217-219)tCc>tGc	p.S73C	SLC25A12_ENST00000392592.4_Intron|RNU6-182P_ENST00000516970.1_RNA|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	73	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.S73C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CTCTTGATAGGAGATCAACCT	0.393																																						uc002uhh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)TCC>TGC		solute carrier family 25, member 12	L-Aspartic Acid(DB00128)						110.0	112.0	111.0					2																	172712451		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172712451G>C	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.218C>G	2.37:g.172712451G>C	ENSP00000388658:p.Ser73Cys					SLC25A12_uc010fqh.2_Intron|SLC25A12_uc010zdv.1_RNA	p.S73C	NM_003705	NP_003696	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		4	307	-			73			1.|EF-hand 1.		B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.218C>G	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188027	0.78789	.	.	ENSG00000115840	ENST00000422440	T	0.52057	0.68	5.63	5.63	0.86233	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.84082	2.675	0.80722	D	1	P	0.36577	0.558	B	0.39258	0.295	T	0.65697	-0.6105	10	0.87932	D	0	-10.9241	19.6978	0.96034	0.0:0.0:1.0:0.0	.	73	O75746	CMC1_HUMAN	C	73	ENSP00000388658:S73C	ENSP00000388658:S73C	S	-	2	0	SLC25A12	172420697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.649000	0.89929	0.650000	0.86243	TCC		PASS	0.393	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		26	107	26	107	---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175665003	175665003	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:175665003G>T	ENST00000409900.3	-	13	1534	c.1221C>A	c.(1219-1221)caC>caA	p.H407Q	CHN1_ENST00000295497.7_Missense_Mutation_p.H282Q|CHN1_ENST00000409597.1_Missense_Mutation_p.H223Q|CHN1_ENST00000409156.3_Missense_Mutation_p.H381Q|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	407	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.H407H(1)|p.H407Q(1)|p.H282Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCTCCTTTTCGTGGAGGGTCA	0.403			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.2				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(2)|large_intestine(1)	ovary(2)|skin(1)	3						c.(1219-1221)CAC>CAA		chimerin (chimaerin) 1 isoform a							111.0	103.0	106.0					2																	175665003		1888	4117	6005	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175665003G>T		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1221C>A	2.37:g.175665003G>T	ENSP00000386741:p.His407Gln					CHN1_uc010zeq.1_Missense_Mutation_p.H381Q|CHN1_uc002ujj.2_Missense_Mutation_p.H182Q|CHN1_uc002ujg.2_Missense_Mutation_p.H282Q	p.H407Q	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		13	1751	-			407			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1221C>A	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533025	0.27387	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.88	-11.8	0.00035	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.192667	0.56097	D	0.000032	T	0.17066	0.0410	L	0.49778	1.585	0.43841	D	0.996427	P;P;P	0.40032	0.591;0.699;0.536	B;B;B	0.37304	0.177;0.246;0.186	T	0.63857	-0.6542	10	0.23891	T	0.37	.	24.4784	0.99990	0.8266:0.0:0.1734:0.0	.	381;407;282	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	Q	407;282;223;381	ENSP00000386741:H407Q;ENSP00000295497:H282Q;ENSP00000386469:H223Q;ENSP00000386470:H381Q	ENSP00000295497:H282Q	H	-	3	2	CHN1	175373249	0.008000	0.16893	0.010000	0.14722	0.893000	0.52053	-0.595000	0.05727	-3.556000	0.00142	-1.876000	0.00548	CAC		PASS	0.403	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		5	122	5	122	---	---	---	---
HOXD10	3236	broad.mit.edu	37	2	176982280	176982280	+	Missense_Mutation	SNP	C	C	A	rs529467459		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:176982280C>A	ENST00000249501.4	+	1	974	c.719C>A	c.(718-720)cCc>cAc	p.P240H	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	240					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P240H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTGTCCAGTCCCGAAGTGCAG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15912	0.001		0.0	False		,,,				2504	0.0					uc002ukj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(718-720)CCC>CAC		homeobox D10							26.0	32.0	30.0					2																	176982280		2191	4284	6475	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176982280C>A		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.719C>A	2.37:g.176982280C>A	ENSP00000249501:p.Pro240His						p.P240H	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	789	+			240					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.719C>A	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941168	0.73557	.	.	ENSG00000128710	ENST00000249501	D	0.94576	-3.46	5.96	5.96	0.96718	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	M	0.82630	2.6	0.80722	D	1	D	0.60575	0.988	P	0.58928	0.848	D	0.96852	0.9626	10	0.62326	D	0.03	.	20.4559	0.99141	0.0:1.0:0.0:0.0	.	240	P28358	HXD10_HUMAN	H	240	ENSP00000249501:P240H	ENSP00000249501:P240H	P	+	2	0	HOXD10	176690526	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.487000	0.81328	2.843000	0.97960	0.650000	0.86243	CCC		PASS	0.672	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			7	31	7	31	---	---	---	---
HOXD3	3232	broad.mit.edu	37	2	177034272	177034272	+	Nonsense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:177034272A>T	ENST00000468418.3	+	3	2520	c.430A>T	c.(430-432)Aaa>Taa	p.K144*	HOXD3_ENST00000410016.1_Nonsense_Mutation_p.K144*|HOXD3_ENST00000249440.3_Nonsense_Mutation_p.K144*			P31249	HXD3_HUMAN	homeobox D3	144					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K144*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CAAGAAGCCCAAAGGTGGGCC	0.582																																						uc002ukt.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(430-432)AAA>TAA		homeobox D3							82.0	87.0	85.0					2																	177034272		2203	4300	6503	SO:0001587	stop_gained	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177034272A>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.430A>T	2.37:g.177034272A>T	ENSP00000424734:p.Lys144*						p.K144*	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	2	606	+			144					Q99955|Q9BSC5	Nonsense_Mutation	SNP	ENST00000468418.3	37	c.430A>T	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.942973	0.92526	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	.	.	.	5.59	5.59	0.84812	.	0.323733	0.36034	N	0.002821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0668	0.80887	1.0:0.0:0.0:0.0	.	.	.	.	X	144	.	.	K	+	1	0	HOXD3	176742518	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.299000	0.72770	2.246000	0.74042	0.533000	0.62120	AAA		PASS	0.582	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			30	63	30	63	---	---	---	---
MTX2	10651	broad.mit.edu	37	2	177202252	177202252	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:177202252C>T	ENST00000249442.6	+	10	863	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	MTX2_ENST00000443241.1_Missense_Mutation_p.H162Y|MTX2_ENST00000392529.2_Missense_Mutation_p.H208Y	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	218					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)		p.H218Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			GGTATTTGGCCATCTATACAC	0.373																																						uc002ukx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(652-654)CAT>TAT		metaxin 2							196.0	183.0	187.0					2																	177202252		2203	4300	6503	SO:0001583	missense	10651				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr2:177202252C>T	AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.652C>T	2.37:g.177202252C>T	ENSP00000249442:p.His218Tyr					MTX2_uc002ukw.2_Missense_Mutation_p.H208Y	p.H218Y	NM_006554	NP_006545	O75431	MTX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)		10	887	+			218					A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Missense_Mutation	SNP	ENST00000249442.6	37	c.652C>T	CCDS2272.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047822	0.93740	.	.	ENSG00000128654	ENST00000249442;ENST00000392529;ENST00000443241;ENST00000452865	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.92	5.92	0.95590	Glutathione S-transferase, C-terminal-like (2);	0.093880	0.64402	D	0.000001	T	0.59729	0.2215	L	0.50919	1.6	0.80722	D	1	P;D	0.89917	0.938;1.0	D;D	0.97110	0.921;1.0	T	0.45585	-0.9251	10	0.16896	T	0.51	-0.6793	20.3172	0.98658	0.0:1.0:0.0:0.0	.	218;208	O75431;Q8IZ68	MTX2_HUMAN;.	Y	218;208;162;195	ENSP00000249442:H218Y;ENSP00000376314:H208Y;ENSP00000414176:H162Y;ENSP00000398757:H195Y	ENSP00000249442:H218Y	H	+	1	0	MTX2	176910498	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.768000	0.85345	2.801000	0.96364	0.650000	0.86243	CAT		PASS	0.373	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255695.4	NM_006554		34	93	34	93	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179412919	179412919	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:179412919A>T	ENST00000591111.1	-	289	88735	c.88511T>A	c.(88510-88512)aTc>aAc	p.I29504N	TTN_ENST00000589042.1_Missense_Mutation_p.I31145N|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I28577N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I22205N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I22080N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I22272N|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29504	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I28575N(1)|p.I28577N(1)|p.I22080N(1)|p.I22205N(1)|p.I22272N(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)			GTAGCCAGTGATCCGGCTGCC	0.493																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85729-85731)ATC>AAC		titin isoform N2-A							154.0	156.0	155.0					2																	179412919		1984	4169	6153	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412919A>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.88511T>A	2.37:g.179412919A>T	ENSP00000465570:p.Ile29504Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I22272N|TTN_uc010zfi.1_Missense_Mutation_p.I22205N|TTN_uc010zfj.1_Missense_Mutation_p.I22080N	p.I28577N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85954	-			29504					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.85730T>A		.	.	.	.	.	.	.	.	.	.	A	17.41	3.383180	0.61845	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83852	0.5344	H	0.94462	3.54	0.54753	D	0.999983	D;D;D;D	0.69078	0.997;0.997;0.997;0.994	D;D;D;D	0.64877	0.93;0.93;0.93;0.93	D	0.88699	0.3214	9	0.87932	D	0	.	15.8787	0.79185	1.0:0.0:0.0:0.0	.	22080;22205;22272;29504	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	28577;22080;22272;22205;22077	ENSP00000343764:I28577N;ENSP00000434586:I22080N;ENSP00000340554:I22272N;ENSP00000352154:I22205N	ENSP00000340554:I22272N	I	-	2	0	TTN	179121165	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.139000	0.66308	0.533000	0.62120	ATC		PASS	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	124	38	124	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179443892	179443892	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:179443892G>T	ENST00000591111.1	-	270	63166	c.62942C>A	c.(62941-62943)aCa>aAa	p.T20981K	TTN_ENST00000589042.1_Missense_Mutation_p.T22622K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T20054K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T13682K|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T13557K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T13749K|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20981	Ig-like 112.				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.T13557K(1)|p.T13682K(1)|p.T20054K(1)|p.T13749K(1)|p.T20052K(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)			AAGTGTGATTGTGTATTTTCC	0.428																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(60160-60162)ACA>AAA		titin isoform N2-A							133.0	126.0	128.0					2																	179443892		1934	4127	6061	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443892G>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.62942C>A	2.37:g.179443892G>T	ENSP00000465570:p.Thr20981Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13749K|TTN_uc010zfi.1_Missense_Mutation_p.T13682K|TTN_uc010zfj.1_Missense_Mutation_p.T13557K|uc002umv.1_Missense_Mutation_p.V40L	p.T20054K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	60385	-			20981					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.60161C>A		.	.	.	.	.	.	.	.	.	.	G	13.16	2.154350	0.38021	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69575	0.3126	M	0.70275	2.135	0.58432	D	0.999996	D;D;D;D	0.69078	0.994;0.994;0.994;0.997	P;P;P;D	0.67900	0.891;0.891;0.891;0.954	T	0.70296	-0.4911	9	0.87932	D	0	.	20.4293	0.99080	0.0:0.0:1.0:0.0	.	13557;13682;13749;20981	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	20054;13557;13749;13682;13555	ENSP00000343764:T20054K;ENSP00000434586:T13557K;ENSP00000340554:T13749K;ENSP00000352154:T13682K	ENSP00000340554:T13749K	T	-	2	0	TTN	179152138	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.610000	0.67668	2.833000	0.97629	0.655000	0.94253	ACA		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	82	37	82	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179452854	179452854	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:179452854C>A	ENST00000591111.1	-	255	58581	c.58357G>T	c.(58357-58359)Gca>Tca	p.A19453S	TTN_ENST00000589042.1_Missense_Mutation_p.A21094S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A18526S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A12154S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A12029S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A12221S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19453	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A12029S(1)|p.A12221S(1)|p.A18524S(1)|p.A12154S(1)|p.A18526S(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)			ATGATCGGTGCACCACCATCA	0.468																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(55576-55578)GCA>TCA		titin isoform N2-A							86.0	84.0	84.0					2																	179452854		1960	4145	6105	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452854C>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.58357G>T	2.37:g.179452854C>A	ENSP00000465570:p.Ala19453Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A12221S|TTN_uc010zfi.1_Missense_Mutation_p.A12154S|TTN_uc010zfj.1_Missense_Mutation_p.A12029S	p.A18526S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		254	55800	-			19453					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.55576G>T		.	.	.	.	.	.	.	.	.	.	C	13.75	2.329378	0.41197	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33352	0.0860	N	0.02685	-0.53	0.80722	D	1	B;B;B;B	0.19331	0.035;0.035;0.035;0.035	B;B;B;B	0.23275	0.027;0.027;0.027;0.045	T	0.21690	-1.0238	9	0.87932	D	0	.	16.7974	0.85606	0.1299:0.8701:0.0:0.0	.	12029;12154;12221;19453	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	18526;12029;12221;12154;12027	ENSP00000343764:A18526S;ENSP00000434586:A12029S;ENSP00000340554:A12221S;ENSP00000352154:A12154S	ENSP00000340554:A12221S	A	-	1	0	TTN	179161100	0.999000	0.42202	0.940000	0.37924	0.929000	0.56500	4.080000	0.57620	1.547000	0.49401	0.650000	0.86243	GCA		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	32	15	32	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179455492	179455492	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:179455492G>T	ENST00000591111.1	-	254	56261	c.56037C>A	c.(56035-56037)gtC>gtA	p.V18679V	TTN_ENST00000589042.1_Silent_p.V20320V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.V17752V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V11380V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Silent_p.V11255V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.V11447V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18679	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V11447V(2)|p.V11255V(2)|p.V17750V(2)|p.V11380V(2)|p.V17752V(2)		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)			GTGTTTTGTTGACCCTCACCC	0.438																																						uc010zfg.1																			10	Substitution - coding silent(10)		lung(10)	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.(53254-53256)GTC>GTA		titin isoform N2-A							134.0	128.0	130.0					2																	179455492		1910	4132	6042	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455492G>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.56037C>A	2.37:g.179455492G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V11447V|TTN_uc010zfi.1_Silent_p.V11380V|TTN_uc010zfj.1_Silent_p.V11255V	p.V17752V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	53480	-			18679					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.53256C>A																																																																																					PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	89	28	89	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179460333	179460333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:179460333G>A	ENST00000591111.1	-	245	53049	c.52825C>T	c.(52825-52827)Caa>Taa	p.Q17609*	TTN_ENST00000589042.1_Nonsense_Mutation_p.Q19250*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q16682*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q10310*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q10185*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q10377*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17609	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q16682*(1)|p.Q16680*(1)|p.Q10377*(1)|p.Q10310*(1)|p.Q10185*(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)			GCTTTTCCTTGAATGAGACCC	0.443																																						uc010zfg.1																			5	Substitution - Nonsense(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.(50044-50046)CAA>TAA		titin isoform N2-A							56.0	51.0	53.0					2																	179460333		1863	4119	5982	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179460333G>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.52825C>T	2.37:g.179460333G>A	ENSP00000465570:p.Gln17609*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.Q10377*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q10310*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q10185*	p.Q16682*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		244	50268	-			17609					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.50044C>T		.	.	.	.	.	.	.	.	.	.	G	60	48.847360	0.99987	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.9	-0.944	0.10392	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	27.5719	0.99998	0.0:0.7923:0.2077:0.0	.	.	.	.	X	16682;10185;10377;10310;10183	.	ENSP00000340554:Q10377X	Q	-	1	0	TTN	179168579	0.913000	0.31002	0.994000	0.49952	0.989000	0.77384	0.276000	0.18716	-0.146000	0.11274	-0.182000	0.12963	CAA		PASS	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	9	7	9	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179475959	179475959	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:179475959A>T	ENST00000591111.1	-	220	46198	c.45974T>A	c.(45973-45975)gTt>gAt	p.V15325D	TTN_ENST00000589042.1_Missense_Mutation_p.V16966D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V14398D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8026D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V7901D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V8093D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15325	Ig-like 97.				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.V14398D(2)|p.V8093D(1)|p.V8026D(1)|p.V7901D(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)			ACCTTCAATAACAATAATGTC	0.373																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(43192-43194)GTT>GAT		titin isoform N2-A							58.0	58.0	58.0					2																	179475959		1886	4107	5993	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179475959A>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.45974T>A	2.37:g.179475959A>T	ENSP00000465570:p.Val15325Asp					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V8093D|TTN_uc010zfi.1_Missense_Mutation_p.V8026D|TTN_uc010zfj.1_Missense_Mutation_p.V7901D	p.V14398D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		219	43417	-			15325					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.43193T>A		.	.	.	.	.	.	.	.	.	.	A	12.72	2.021323	0.35701	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89220	0.6653	H	0.95850	3.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.92592	0.6084	9	0.87932	D	0	.	16.0068	0.80367	1.0:0.0:0.0:0.0	.	7901;8026;8093;15325	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	14398;7901;8093;8026;7901	ENSP00000343764:V14398D;ENSP00000434586:V7901D;ENSP00000340554:V8093D;ENSP00000352154:V8026D	ENSP00000340554:V8093D	V	-	2	0	TTN	179184204	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.229000	0.95273	2.241000	0.73720	0.482000	0.46254	GTT		PASS	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	36	14	36	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179482066	179482066	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:179482066C>T	ENST00000591111.1	-	204	43047	c.42823G>A	c.(42823-42825)Gaa>Aaa	p.E14275K	TTN_ENST00000589042.1_Missense_Mutation_p.E15916K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13348K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6976K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6851K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7043K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14275	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E13348K(2)|p.E7043K(1)|p.E6851K(1)|p.E6976K(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)			TAAGTCAGTTCAGGGACAAGT	0.333																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(40042-40044)GAA>AAA		titin isoform N2-A							82.0	73.0	76.0					2																	179482066		1850	4089	5939	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482066C>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.42823G>A	2.37:g.179482066C>T	ENSP00000465570:p.Glu14275Lys					TTN_uc010zfh.1_Missense_Mutation_p.E7043K|TTN_uc010zfi.1_Missense_Mutation_p.E6976K|TTN_uc010zfj.1_Missense_Mutation_p.E6851K	p.E13348K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		203	40266	-			14275					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.40042G>A		.	.	.	.	.	.	.	.	.	.	C	11.49	1.654369	0.29425	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.93	2.93	0.34026	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40067	0.1102	L	0.28556	0.865	0.32968	D	0.521891	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.48811	-0.9002	9	0.87932	D	0	.	9.9482	0.41623	0.0:0.7127:0.0:0.2873	.	6851;6976;7043;14275	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	13348;6851;7043;6976;6851	ENSP00000343764:E13348K;ENSP00000434586:E6851K;ENSP00000340554:E7043K;ENSP00000352154:E6976K	ENSP00000340554:E7043K	E	-	1	0	TTN	179190311	0.814000	0.29104	1.000000	0.80357	0.985000	0.73830	0.287000	0.18920	0.721000	0.32231	-0.140000	0.14226	GAA		PASS	0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	8	4	8	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179575619	179575619	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:179575619C>A	ENST00000591111.1	-	96	27478	c.27254G>T	c.(27253-27255)cGt>cTt	p.R9085L	TTN_ENST00000589042.1_Missense_Mutation_p.R9402L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8158L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13217	Ig-like 74.				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.R8158L(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)			AGGGGCAAGACGGATGTCAAA	0.493																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(24472-24474)CGT>CTT		titin isoform N2-A							85.0	83.0	83.0					2																	179575619		1981	4163	6144	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575619C>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.27254G>T	2.37:g.179575619C>A	ENSP00000465570:p.Arg9085Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4819L	p.R8158L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		95	24697	-			9085					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.24473G>T		.	.	.	.	.	.	.	.	.	.	C	6.548	0.469381	0.12461	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	6.06	2.27	0.28462	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57636	0.2067	L	0.37897	1.145	0.18873	N	0.999987	B	0.15930	0.015	B	0.21917	0.037	T	0.52697	-0.8541	9	0.87932	D	0	.	11.3302	0.49470	0.0:0.3272:0.4459:0.2269	.	9085	Q8WZ42	TITIN_HUMAN	L	8158	ENSP00000343764:R8158L	ENSP00000343764:R8158L	R	-	2	0	TTN	179283864	0.989000	0.36119	0.119000	0.21687	0.201000	0.24016	2.149000	0.42244	0.144000	0.18951	-0.938000	0.02693	CGT		PASS	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	67	31	67	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179595510	179595510	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:179595510A>T	ENST00000591111.1	-	59	17023	c.16799T>A	c.(16798-16800)aTa>aAa	p.I5600K	TTN_ENST00000589042.1_Missense_Mutation_p.I5917K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I4673K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12417					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.I4673K(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)			TGAAGGAGGTATGATAAGATC	0.318																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14017-14019)ATA>AAA		titin isoform N2-A							57.0	57.0	57.0					2																	179595510		1817	4089	5906	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595510A>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.16799T>A	2.37:g.179595510A>T	ENSP00000465570:p.Ile5600Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I1334K	p.I4673K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		58	14242	-			5600					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.14018T>A		.	.	.	.	.	.	.	.	.	.	A	11.90	1.777367	0.31411	.	.	ENSG00000155657	ENST00000342992	T	0.64618	-0.11	5.75	5.75	0.90469	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72317	0.3445	L	0.45285	1.41	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.75178	-0.3409	9	0.87932	D	0	.	16.0537	0.80779	1.0:0.0:0.0:0.0	.	5600	Q8WZ42	TITIN_HUMAN	K	4673	ENSP00000343764:I4673K	ENSP00000343764:I4673K	I	-	2	0	TTN	179303755	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.335000	0.96500	2.181000	0.69327	0.460000	0.39030	ATA		PASS	0.318	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	85	4	85	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610930	179610930	+	Intron	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:179610930G>C	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.F5399L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_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)			CTGAACATTTGAATACAGCAT	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.(16195-16197)TTC>TTG		titin isoform novex-3							63.0	66.0	65.0					2																	179610930		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610930G>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.10361-4282C>G	2.37:g.179610930G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.F5399L	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16421	-			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.16197C>G		.	.	.	.	.	.	.	.	.	.	G	11.44	1.640178	0.29157	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.65549	-0.16	5.88	1.84	0.25277	.	.	.	.	.	T	0.41119	0.1145	N	0.25332	0.735	0.80722	D	1	B	0.27997	0.197	B	0.27796	0.083	T	0.09335	-1.0679	9	0.14252	T	0.57	.	6.0148	0.19596	0.383:0.1296:0.4874:0.0	.	5399	Q8WZ42-6	.	L	5399;680	ENSP00000354117:F5399L	ENSP00000304714:F680L	F	-	3	2	TTN	179319175	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	2.193000	0.42658	0.829000	0.34733	0.655000	0.94253	TTC		PASS	0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	38	34	38	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185803014	185803014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:185803014C>A	ENST00000302277.6	+	4	3485	c.2891C>A	c.(2890-2892)tCa>tAa	p.S964*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	964							metal ion binding (GO:0046872)	p.S964*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTAGACAGTCACAGCCTAAA	0.388																																						uc002uph.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2890-2892)TCA>TAA		zinc finger protein 804A							90.0	86.0	88.0					2																	185803014		2203	4300	6503	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185803014C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2891C>A	2.37:g.185803014C>A	ENSP00000303252:p.Ser964*						p.S964*	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3485	+			964					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.2891C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	40	8.388577	0.98789	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.41	4.53	0.55603	.	1.084610	0.07180	N	0.853856	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	2.623	10.2223	0.43205	0.0:0.7879:0.1364:0.0757	.	.	.	.	X	964	.	ENSP00000303252:S964X	S	+	2	0	ZNF804A	185511259	0.000000	0.05858	0.006000	0.13384	0.346000	0.29079	0.705000	0.25675	1.277000	0.44412	0.467000	0.42956	TCA		PASS	0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		20	63	20	63	---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190331241	190331241	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:190331241C>G	ENST00000314761.4	+	13	1440	c.1380C>G	c.(1378-1380)acC>acG	p.T460T		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	460						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T460T(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AACAGCCCACCTTGGTTACAG	0.353																																						uc002uql.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1378-1380)ACC>ACG		WD repeat domain 75							108.0	110.0	110.0					2																	190331241		2203	4299	6502	SO:0001819	synonymous_variant	84128					nucleolus		g.chr2:190331241C>G	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1380C>G	2.37:g.190331241C>G						WDR75_uc002uqm.1_Silent_p.T396T|WDR75_uc002uqn.1_Silent_p.T238T|WDR75_uc002uqo.1_Silent_p.T238T	p.T460T	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		13	1440	+			460			WD 7.		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Silent	SNP	ENST00000314761.4	37	c.1380C>G	CCDS2298.1																																																																																				PASS	0.353	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		20	57	20	57	---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190924989	190924989	+	Silent	SNP	G	G	A	rs374299078		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:190924989G>A	ENST00000260950.4	-	2	678	c.546C>T	c.(544-546)gaC>gaT	p.D182D	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	182					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.D182D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ACCTTGTACCGTCTTTCATAG	0.428																																						uc002urp.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(544-546)GAC>GAT		myostatin precursor		G		0,4406		0,0,2203	175.0	166.0	169.0		546	0.3	1.0	2		169	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MSTN	NM_005259.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		182/376	190924989	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190924989G>A	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.546C>T	2.37:g.190924989G>A							p.D182D	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		2	679	-			182					A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	ENST00000260950.4	37	c.546C>T	CCDS2303.1																																																																																				PASS	0.428	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		17	93	17	93	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209190082	209190082	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:209190082G>C	ENST00000264380.4	+	20	2705	c.2547G>C	c.(2545-2547)ctG>ctC	p.L849L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	849					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.L849L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATTATGAGCTGGCTCGAGTTA	0.393																																						uc002vcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(2545-2547)CTG>CTC		phosphatidylinositol-3-phosphate 5-kinase type							102.0	97.0	99.0					2																	209190082		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190082G>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2547G>C	2.37:g.209190082G>C						PIKFYVE_uc010fun.1_Silent_p.L530L|PIKFYVE_uc002vcy.1_Silent_p.L793L	p.L849L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			20	2705	+			849					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.2547G>C	CCDS2382.1																																																																																				PASS	0.393	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		22	17	22	17	---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219602602	219602602	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:219602602G>T	ENST00000392102.1	+	3	543	c.203G>T	c.(202-204)gGc>gTc	p.G68V	TTLL4_ENST00000442769.1_Missense_Mutation_p.G68V|TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000258398.4_Missense_Mutation_p.G68V	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	68					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.G68V(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCAGGGTTGGGCCCAGGCCTC	0.577																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(202-204)GGC>GTC		tubulin tyrosine ligase-like family, member 4							92.0	96.0	94.0					2																	219602602		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602602G>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.203G>T	2.37:g.219602602G>T	ENSP00000375951:p.Gly68Val					TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.2_Missense_Mutation_p.G68V	p.G68V	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	573	+		Renal(207;0.0915)	68					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.203G>T	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	2.103	-0.405686	0.04832	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	5.34	1.5	0.22942	.	0.690561	0.13217	N	0.404623	T	0.15955	0.0384	L	0.32530	0.975	0.09310	N	0.999997	B;B	0.24186	0.099;0.047	B;B	0.22601	0.04;0.04	T	0.28839	-1.0031	10	0.87932	D	0	.	1.7764	0.03023	0.243:0.1517:0.4687:0.1365	.	68;68	E7EX20;Q14679	.;TTLL4_HUMAN	V	68	ENSP00000411228:G68V;ENSP00000375951:G68V;ENSP00000391342:G68V;ENSP00000396555:G68V;ENSP00000405485:G68V;ENSP00000258398:G68V	ENSP00000258398:G68V	G	+	2	0	TTLL4	219310846	0.428000	0.25522	0.001000	0.08648	0.009000	0.06853	0.618000	0.24373	0.234000	0.21139	-0.251000	0.11542	GGC		PASS	0.577	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		37	31	37	31	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220354143	220354143	+	Silent	SNP	C	C	A	rs371062853		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:220354143C>A	ENST00000312358.7	+	36	8535	c.8403C>A	c.(8401-8403)acC>acA	p.T2801T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2801	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T2801T(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACTCTCCTACCTCACTGGCCC	0.642																																						uc010fwg.2																			1	Substitution - coding silent(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8401-8403)ACC>ACA		SPEG complex locus							36.0	37.0	36.0					2																	220354143		1900	4106	6006	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220354143C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8403C>A	2.37:g.220354143C>A							p.T2801T	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	36	8403	+		Renal(207;0.0183)	2801			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.8403C>A	CCDS42824.1																																																																																				PASS	0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		9	18	9	18	---	---	---	---
EFHD1	80303	broad.mit.edu	37	2	233527618	233527618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:233527618G>T	ENST00000264059.3	+	2	886	c.409G>T	c.(409-411)Gag>Tag	p.E137*	EFHD1_ENST00000409613.1_Nonsense_Mutation_p.E41*|EFHD1_ENST00000409708.1_Nonsense_Mutation_p.E25*|EFHD1_ENST00000410095.1_Nonsense_Mutation_p.E25*	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	137	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.E137*(1)		NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CATGATCAAGGAGGTGGATGA	0.632																																						uc002vtc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(409-411)GAG>TAG		EF-hand domain family, member D1							88.0	91.0	90.0					2																	233527618		2203	4300	6503	SO:0001587	stop_gained	80303						calcium ion binding|protein binding	g.chr2:233527618G>T		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.409G>T	2.37:g.233527618G>T	ENSP00000264059:p.Glu137*					EFHD1_uc010fyf.2_Nonsense_Mutation_p.E41*|EFHD1_uc002vtd.2_Nonsense_Mutation_p.E25*	p.E137*	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	2	617	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	137			EF-hand 2.		B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Nonsense_Mutation	SNP	ENST00000264059.3	37	c.409G>T	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	G	42	9.199887	0.99098	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000427698;ENST00000410095	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-31.3191	17.4183	0.87507	0.0:0.0:1.0:0.0	.	.	.	.	X	41;137;40;25;25;25	.	ENSP00000264059:E137X	E	+	1	0	EFHD1	233235862	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.460000	0.97641	2.585000	0.87301	0.462000	0.41574	GAG		PASS	0.632	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		15	21	15	21	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	233986827	233986827	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:233986827G>T	ENST00000359570.5	+	3	209	c.209G>T	c.(208-210)gGc>gTc	p.G70V	INPP5D_ENST00000538935.1_Missense_Mutation_p.G70V|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	70	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.G70V(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCATCCGAAGGCGTCTCCATG	0.522																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(208-210)GGC>GTC		SH2 containing inositol phosphatase isoform a							106.0	109.0	108.0					2																	233986827		2079	4210	6289	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233986827G>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.209G>T	2.37:g.233986827G>T	ENSP00000352575:p.Gly70Val					INPP5D_uc010zmp.1_Missense_Mutation_p.G70V	p.G70V	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	3	362	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	70			SH2.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.209G>T		.	.	.	.	.	.	.	.	.	.	g	16.05	3.011550	0.54468	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.52	5.52	0.82312	SH2 motif (4);	0.049794	0.85682	N	0.000000	D	0.93585	0.7952	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94166	0.7419	9	0.87932	D	0	.	16.4165	0.83743	0.0:0.0:1.0:0.0	.	70;70	Q92835-2;Q92835	.;SHIP1_HUMAN	V	70	ENSP00000409018:G70V;ENSP00000415253:G70V;ENSP00000352575:G70V;ENSP00000441010:G70V	ENSP00000352575:G70V	G	+	2	0	INPP5D	233695071	1.000000	0.71417	0.999000	0.59377	0.189000	0.23516	7.532000	0.81985	2.593000	0.87608	0.645000	0.84053	GGC		PASS	0.522	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		34	40	34	40	---	---	---	---
UGT1A7	54577	broad.mit.edu	37	2	234591121	234591121	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:234591121G>T	ENST00000373426.3	+	1	538	c.538G>T	c.(538-540)Ggt>Tgt	p.G180C	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	180					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.G180S(1)|p.G180C(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TCTTGAAGAAGGTGCACAGTG	0.483																																						uc002vut.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(1)	1						c.(538-540)GGT>TGT		UDP glycosyltransferase 1 family, polypeptide A7							162.0	168.0	166.0					2																	234591121		2203	4300	6503	SO:0001583	missense	54577				drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding	g.chr2:234591121G>T	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.538G>T	2.37:g.234591121G>T	ENSP00000362525:p.Gly180Cys					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.G180C	p.G180C	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	538	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	180					B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.538G>T	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.99|17.99	3.523793|3.523793	0.64747|0.64747	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000373426|ENST00000485022	T|.	0.06294|.	3.32|.	4.34|4.34	1.45|1.45	0.22620|0.22620	.|.	.|.	.|.	.|.	.|.	T|T	0.35941|0.35941	0.0949|0.0949	L|L	0.39566|0.39566	1.225|1.225	0.09310|0.09310	N|N	1|1	D;D|.	0.61080|.	0.989;0.989|.	D;D|.	0.64877|.	0.93;0.93|.	T|T	0.25082|0.25082	-1.0142|-1.0142	9|5	0.14252|.	T|.	0.57|.	.|.	8.303|8.303	0.32025|0.32025	0.3222:0.0:0.6778:0.0|0.3222:0.0:0.6778:0.0	.|.	180;180|.	Q5DSZ7;Q9HAW7|.	.;UD17_HUMAN|.	C|N	180|36	ENSP00000362525:G180C|.	ENSP00000362525:G180C|.	G|K	+|+	1|3	0|2	UGT1A7|UGT1A7	234255860|234255860	0.000000|0.000000	0.05858|0.05858	0.122000|0.122000	0.21767|0.21767	0.861000|0.861000	0.49209|0.49209	0.723000|0.723000	0.25939|0.25939	0.469000|0.469000	0.27268|0.27268	0.491000|0.491000	0.48974|0.48974	GGT|AAG		PASS	0.483	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		73	66	73	66	---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	240016748	240016748	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:240016748C>T	ENST00000345617.3	-	17	3014	c.2223G>A	c.(2221-2223)tcG>tcA	p.S741S	HDAC4_ENST00000541256.1_Silent_p.S715S|HDAC4_ENST00000543185.1_Silent_p.S325S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	741	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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 cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S741S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGGAGGCGAGCGAGCCTGTGG	0.612																																						uc002vyk.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(2221-2223)TCG>TCA		histone deacetylase 4							63.0	75.0	71.0					2																	240016748		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240016748C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2223G>A	2.37:g.240016748C>T						HDAC4_uc010fyz.1_Silent_p.S736S|HDAC4_uc010zoa.1_Silent_p.S741S|HDAC4_uc010fza.2_Silent_p.S746S|HDAC4_uc010fyy.2_Silent_p.S698S|HDAC4_uc010znz.1_Silent_p.S624S	p.S741S	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	17	3015	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	741			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2223G>A	CCDS2529.1																																																																																				PASS	0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		26	13	26	13	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241658612	241658612	+	Silent	SNP	C	C	A	rs148176695	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:241658612C>A	ENST00000320389.7	-	45	4880	c.4722G>T	c.(4720-4722)ccG>ccT	p.P1574P	KIF1A_ENST00000498729.2_Silent_p.P1675P	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1574					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.P1574P(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGGAAACGATCGGGCTGAAGG	0.652																																						uc002vzy.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(4720-4722)CCG>CCT		axonal transport of synaptic vesicles							69.0	79.0	76.0					2																	241658612		2107	4239	6346	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241658612C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4722G>T	2.37:g.241658612C>A						KIF1A_uc010fzk.2_Silent_p.P1675P|KIF1A_uc002vzw.2_Silent_p.P235P|KIF1A_uc002vzx.2_Silent_p.P301P	p.P1574P	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	45	4868	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1574					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.4722G>T	CCDS46561.1																																																																																				PASS	0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		29	39	29	39	---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242192394	242192394	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr2:242192394G>C	ENST00000391975.1	-	11	1577	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000427183.2_Silent_p.L417L|HDLBP_ENST00000310931.4_Silent_p.L450L|HDLBP_ENST00000391976.2_Silent_p.L450L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	450	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.L450L(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCTTCCCAATGAGGTGCCTGT	0.567																																						uc002waz.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(1)	4						c.(1348-1350)CTC>CTG		high density lipoprotein binding protein							193.0	154.0	167.0					2																	242192394		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242192394G>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1350C>G	2.37:g.242192394G>C						HDLBP_uc002wba.2_Silent_p.L450L|HDLBP_uc002wbb.2_Silent_p.L402L	p.L450L	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	11	1578	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	450			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.1350C>G	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.38|10.38	1.333686|1.333686	0.24167|0.24167	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000453141	.|.	.|.	.|.	5.49|5.49	0.319|0.319	0.15873|0.15873	.|.	.|.	.|.	.|.	.|.	T|.	0.44582|.	0.1300|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26883|.	-1.0090|.	4|.	.|.	.|.	.|.	-36.1879|-36.1879	3.9991|3.9991	0.09572|0.09572	0.1446:0.304:0.4399:0.1116|0.1446:0.304:0.4399:0.1116	.|.	.|.	.|.	.|.	D|X	259|328	.|.	.|.	H|S	-|-	1|2	0|0	HDLBP|HDLBP	241841067|241841067	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.968000|0.968000	0.65278|0.65278	1.031000|1.031000	0.30165|0.30165	0.377000|0.377000	0.24735|0.24735	0.655000|0.655000	0.94253|0.94253	CAT|TCA		PASS	0.567	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		36	42	36	42	---	---	---	---
IL5RA	3568	broad.mit.edu	37	3	3139615	3139615	+	Missense_Mutation	SNP	G	G	T	rs185027967	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:3139615G>T	ENST00000446632.2	-	7	1222	c.648C>A	c.(646-648)aaC>aaA	p.N216K	IL5RA_ENST00000418488.2_Missense_Mutation_p.N216K|IL5RA_ENST00000430514.2_Missense_Mutation_p.N216K|IL5RA_ENST00000311981.8_Missense_Mutation_p.N216K|IL5RA_ENST00000383846.1_Missense_Mutation_p.N216K|IL5RA_ENST00000256452.3_Missense_Mutation_p.N216K|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.N216K|IL5RA_ENST00000456302.1_Missense_Mutation_p.N216K	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	216					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.N216K(1)|p.N216N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TGCTGGAGCCGTTAACAAGCA	0.488																																					GBM(169;430 2801 24955 28528)	uc011ask.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(1)	1						c.(646-648)AAC>AAA		interleukin 5 receptor, alpha isoform 1							103.0	92.0	96.0					3																	3139615		2203	4300	6503	SO:0001583	missense	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139615G>T	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.648C>A	3.37:g.3139615G>T	ENSP00000412209:p.Asn216Lys					IL5RA_uc010hbq.2_Missense_Mutation_p.N216K|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.N216K|IL5RA_uc011asl.1_Missense_Mutation_p.N216K|IL5RA_uc011asm.1_Missense_Mutation_p.N216K|IL5RA_uc010hbt.2_Missense_Mutation_p.N216K|IL5RA_uc011asn.1_Missense_Mutation_p.N216K|IL5RA_uc010hbu.2_Missense_Mutation_p.N216K	p.N216K	NM_000564	NP_000555	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	8	1292	-			216			Extracellular (Potential).		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.648C>A	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558277	0.45590	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302	D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.91	-5.54	0.02544	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);	0.385424	0.27509	N	0.019045	D	0.82939	0.5146	M	0.69358	2.11	0.80722	D	1	P;P;P;P;P	0.47677	0.695;0.588;0.646;0.695;0.899	P;B;B;P;P	0.49387	0.557;0.292;0.295;0.497;0.609	T	0.80668	-0.1280	10	0.41790	T	0.15	-22.5723	10.5249	0.44943	0.7501:0.1069:0.143:0.0	.	216;216;216;216;216	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	K	216	ENSP00000412209:N216K;ENSP00000390753:N216K;ENSP00000256452:N216K;ENSP00000388858:N216K;ENSP00000373358:N216K;ENSP00000309196:N216K;ENSP00000400400:N216K;ENSP00000392059:N216K	ENSP00000256452:N216K	N	-	3	2	IL5RA	3114615	0.925000	0.31364	0.037000	0.18230	0.019000	0.09904	-0.085000	0.11250	-1.082000	0.03101	-0.793000	0.03317	AAC		PASS	0.488	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			10	32	10	32	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9782562	9782562	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:9782562G>T	ENST00000457855.1	+	3	1670	c.1659G>T	c.(1657-1659)ggG>ggT	p.G553G	BRPF1_ENST00000424362.1_Silent_p.G553G|BRPF1_ENST00000302054.3_Silent_p.G553G|BRPF1_ENST00000383829.2_Silent_p.G553G|BRPF1_ENST00000433861.2_Silent_p.G553G			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	553	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G553G(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACGGAATGGGGTCCCATTGC	0.552																																						uc003bse.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1657-1659)GGG>GGT		bromodomain and PHD finger-containing protein 1							78.0	64.0	69.0					3																	9782562		2203	4300	6503	SO:0001819	synonymous_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9782562G>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1659G>T	3.37:g.9782562G>T						BRPF1_uc003bsf.2_Silent_p.G553G|BRPF1_uc003bsg.2_Silent_p.G553G|BRPF1_uc011ati.1_Silent_p.G553G	p.G553G	NM_004634	NP_004625	P55201	BRPF1_HUMAN			4	2058	+	Medulloblastoma(99;0.227)		553			Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	c.1659G>T	CCDS2575.1																																																																																				PASS	0.552	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		16	28	16	28	---	---	---	---
SLC6A11	6538	broad.mit.edu	37	3	10861482	10861482	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:10861482C>A	ENST00000254488.2	+	3	543	c.477C>A	c.(475-477)agC>agA	p.S159R	SLC6A11_ENST00000454147.1_Missense_Mutation_p.S159R	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	159					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S159R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TTTACCTGAGCAACTGCTTCA	0.527																																						uc003bvz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(475-477)AGC>AGA		solute carrier family 6 (neurotransmitter							169.0	149.0	155.0					3																	10861482		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10861482C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.477C>A	3.37:g.10861482C>A	ENSP00000254488:p.Ser159Arg					SLC6A11_uc003bvy.1_Missense_Mutation_p.S159R	p.S159R	NM_014229	NP_055044	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	3	511	+			159			Extracellular (Potential).		B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.477C>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677892	0.68042	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.74002	-0.8;-0.8	5.13	4.24	0.50183	.	0.234553	0.51477	D	0.000098	T	0.72036	0.3411	L	0.31065	0.9	0.37915	D	0.931481	B	0.33266	0.404	P	0.46419	0.516	T	0.77219	-0.2668	10	0.87932	D	0	.	11.8564	0.52439	0.0:0.8609:0.0:0.1391	.	159	P48066	S6A11_HUMAN	R	159	ENSP00000254488:S159R;ENSP00000404120:S159R	ENSP00000254488:S159R	S	+	3	2	SLC6A11	10836482	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.832000	0.27490	2.547000	0.85894	0.655000	0.94253	AGC		PASS	0.527	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		14	36	14	36	---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11383696	11383696	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:11383696C>G	ENST00000354449.3	+	11	1093	c.1068C>G	c.(1066-1068)gtC>gtG	p.V356V	ATG7_ENST00000446450.2_Silent_p.V317V|ATG7_ENST00000354956.5_Silent_p.V356V	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	356					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.V356V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTGTGTCTGTCAAATGTCTGC	0.473																																						uc003bwc.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1066-1068)GTC>GTG		APG7 autophagy 7-like isoform a							202.0	183.0	189.0					3																	11383696		2203	4300	6503	SO:0001819	synonymous_variant	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11383696C>G	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1068C>G	3.37:g.11383696C>G						ATG7_uc003bwd.2_Silent_p.V356V|ATG7_uc011aum.1_Silent_p.V317V	p.V356V	NM_006395	NP_006386	O95352	ATG7_HUMAN			11	1185	+			356					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	ENST00000354449.3	37	c.1068C>G	CCDS2605.1																																																																																				PASS	0.473	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		36	57	36	57	---	---	---	---
GALNT15	117248	broad.mit.edu	37	3	16254180	16254180	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:16254180G>A	ENST00000339732.5	+	6	1805	c.1302G>A	c.(1300-1302)ctG>ctA	p.L434L	GALNT15_ENST00000437509.1_Silent_p.L434L	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	434					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L434L(1)									AGGCCACCCTGAGGAACAGGG	0.547																																						uc003car.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1300-1302)CTG>CTA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							100.0	96.0	97.0					3																	16254180		2203	4300	6503	SO:0001819	synonymous_variant	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16254180G>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1302G>A	3.37:g.16254180G>A						GALNTL2_uc003caq.3_Silent_p.L167L	p.L434L	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			6	1777	+			434			Lumenal (Potential).		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1302G>A	CCDS33711.1																																																																																				PASS	0.547	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		52	27	52	27	---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27244048	27244048	+	Splice_Site	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:27244048G>A	ENST00000429845.2	-	25	2453	c.2091C>T	c.(2089-2091)tgC>tgT	p.C697C	NEK10_ENST00000383771.4_Splice_Site_p.P9P|NEK10_ENST00000383770.3_Splice_Site_p.P9P|NEK10_ENST00000295720.6_Splice_Site_p.P9P|NEK10_ENST00000357467.2_Splice_Site_p.C94C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	697	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C697C(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTACCTCGGGGCTGAAGTAAA	0.443																																						uc010hfk.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(25-27)CCC>CCT		RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;							57.0	52.0	54.0					3																	27244048		2203	4300	6503	SO:0001630	splice_region_variant	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27244048G>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2091-1C>T	3.37:g.27244048G>A						NEK10_uc003cds.1_Silent_p.C94C|NEK10_uc010hfj.2_Silent_p.P9P	p.P9P			Q6ZWH5	NEK10_HUMAN			3	256	-			Error:Variant_position_missing_in_Q6ZWH5_after_alignment					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	ENST00000429845.2	37	c.27C>T																																																																																					PASS	0.443	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	Silent	16	13	16	13	---	---	---	---
STAC	6769	broad.mit.edu	37	3	36422172	36422172	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:36422172G>T	ENST00000273183.3	+	1	337	c.37G>T	c.(37-39)Gac>Tac	p.D13Y	STAC_ENST00000457375.2_Missense_Mutation_p.D13Y|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	13					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.D13Y(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGACGGCGTGGACGGGCTGCC	0.706																																						uc003cgh.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(37-39)GAC>TAC		SH3 and cysteine rich domain							16.0	15.0	15.0					3																	36422172		2192	4275	6467	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36422172G>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.37G>T	3.37:g.36422172G>T	ENSP00000273183:p.Asp13Tyr					STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.D13Y	p.D13Y	NM_003149	NP_003140	Q99469	STAC_HUMAN			1	76	+			13					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.37G>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417625	0.83449	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000434649	T;T;T	0.75367	-0.93;0.98;0.84	4.96	4.06	0.47325	.	0.138743	0.49305	D	0.000157	T	0.72977	0.3528	N	0.22421	0.69	0.33149	D	0.545498	P;D	0.62365	0.594;0.991	B;P	0.57548	0.365;0.823	T	0.81123	-0.1076	10	0.66056	D	0.02	.	13.0657	0.59032	0.0:0.1626:0.8374:0.0	.	13;13	E9PEA7;Q99469	.;STAC_HUMAN	Y	13	ENSP00000273183:D13Y;ENSP00000393713:D13Y;ENSP00000398403:D13Y	ENSP00000273183:D13Y	D	+	1	0	STAC	36397176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.709000	0.47160	1.356000	0.45884	0.650000	0.86243	GAC		PASS	0.706	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		6	5	6	5	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38770299	38770299	+	Missense_Mutation	SNP	T	T	C	rs563110484	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:38770299T>C	ENST00000449082.2	-	15	2373	c.2374A>G	c.(2374-2376)Atc>Gtc	p.I792V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	792					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I792V(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCAGGATGATGGTGAGGTTC	0.517													T|||	2	0.000399361	0.0	0.0	5008	,	,		18415	0.0		0.001	False		,,,				2504	0.001					uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(2374-2376)ATC>GTC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						138.0	137.0	137.0					3																	38770299		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770299T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2374A>G	3.37:g.38770299T>C	ENSP00000390600:p.Ile792Val						p.I792V	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2374	-			792			Helical; Name=S5 of repeat II; (Potential).|II.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2374A>G	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014735	0.35511	.	.	ENSG00000185313	ENST00000449082	D	0.98455	-4.94	5.05	-0.914	0.10497	Ion transport (1);	0.365635	0.28595	N	0.014795	D	0.90810	0.7114	N	0.03224	-0.385	0.26081	N	0.981092	B	0.27951	0.195	B	0.31101	0.124	D	0.86015	0.1503	10	0.87932	D	0	.	2.032	0.03531	0.5067:0.09:0.1735:0.2299	.	792	Q9Y5Y9	SCNAA_HUMAN	V	792	ENSP00000390600:I792V	ENSP00000390600:I792V	I	-	1	0	SCN10A	38745303	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.299000	0.43611	-0.008000	0.14320	0.533000	0.62120	ATC		PASS	0.517	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		14	74	14	74	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38781048	38781048	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:38781048C>A	ENST00000449082.2	-	14	2237	c.2238G>T	c.(2236-2238)gtG>gtT	p.V746V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	746					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V746V(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCTTCTTGGCCACGCCCAGCT	0.483																																						uc003ciq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(2236-2238)GTG>GTT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						66.0	60.0	62.0					3																	38781048		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38781048C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2238G>T	3.37:g.38781048C>A							p.V746V	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2238	-			746			Helical; Name=S3 of repeat II; (Potential).|II.		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.2238G>T	CCDS33736.1																																																																																				PASS	0.483	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		28	14	28	14	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38968411	38968411	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:38968411G>A	ENST00000302328.3	-	4	698	c.500C>T	c.(499-501)aCt>aTt	p.T167I	SCN11A_ENST00000450244.1_Missense_Mutation_p.T167I|SCN11A_ENST00000456224.3_Missense_Mutation_p.T167I|SCN11A_ENST00000444237.2_Missense_Mutation_p.T167I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	167					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T167I(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATAAATCCCAGTGAAGACACA	0.363																																						uc011ays.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(499-501)ACT>ATT		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						70.0	74.0	73.0					3																	38968411		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38968411G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.500C>T	3.37:g.38968411G>A	ENSP00000307599:p.Thr167Ile						p.T167I	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	4	699	-			167			Helical; Name=S2 of repeat I; (By similarity).|I.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.500C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401698	0.42613	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	5.64	1.64	0.23874	Ion transport (1);	0.101578	0.64402	N	0.000002	D	0.95918	0.8671	L	0.49350	1.555	0.26494	N	0.974891	B	0.18968	0.032	B	0.21917	0.037	D	0.89895	0.4040	10	0.29301	T	0.29	.	5.3441	0.16000	0.2273:0.0:0.627:0.1457	.	167	Q9UI33	SCNBA_HUMAN	I	167	ENSP00000307599:T167I;ENSP00000400945:T167I;ENSP00000416757:T167I;ENSP00000408028:T167I	ENSP00000307599:T167I	T	-	2	0	SCN11A	38943415	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	4.444000	0.60001	0.328000	0.23435	0.563000	0.77884	ACT		PASS	0.363	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		20	43	20	43	---	---	---	---
CX3CR1	1524	broad.mit.edu	37	3	39307072	39307072	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:39307072T>A	ENST00000541347.1	-	2	1168	c.929A>T	c.(928-930)aAa>aTa	p.K310I	CX3CR1_ENST00000542107.1_Missense_Mutation_p.K310I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.K310I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.K342I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	310					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.K342I(1)|p.K310I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGCCAGGCATTTCCCATACAG	0.478																																						uc003cjl.2																			2	Substitution - Missense(2)		lung(2)	lung(3)	3						c.(928-930)AAA>ATA		chemokine (C-X3-C motif) receptor 1							119.0	119.0	119.0					3																	39307072		1971	4163	6134	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307072T>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.929A>T	3.37:g.39307072T>A	ENSP00000439140:p.Lys310Ile						p.K310I	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	1021	-			310			Cytoplasmic (Potential).		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.929A>T	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.418833	0.62622	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.91	5.91	0.95273	.	0.234088	0.30277	N	0.009992	T	0.63628	0.2527	M	0.84683	2.71	0.09310	N	1	D	0.69078	0.997	D	0.63597	0.916	T	0.63989	-0.6512	10	0.87932	D	0	.	9.6333	0.39793	0.0:0.0779:0.0:0.9221	.	310	P49238	CX3C1_HUMAN	I	310;318;342;310;310	ENSP00000382166:K310I;ENSP00000351059:K342I;ENSP00000439140:K310I;ENSP00000444928:K310I	ENSP00000351059:K342I	K	-	2	0	CX3CR1	39282076	1.000000	0.71417	0.806000	0.32338	0.962000	0.63368	4.603000	0.61105	2.269000	0.75478	0.533000	0.62120	AAA		PASS	0.478	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		25	96	25	96	---	---	---	---
ZNF621	285268	broad.mit.edu	37	3	40571728	40571728	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:40571728G>A	ENST00000339296.5	+	4	632	c.180G>A	c.(178-180)ctG>ctA	p.L60L	ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000310898.1_Silent_p.L60L|ZNF621_ENST00000403205.2_Silent_p.L60L	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L60L(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AACCTGCTCTGATCTCCCACC	0.522																																						uc003ckm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(178-180)CTG>CTA		zinc finger protein 621							121.0	112.0	115.0					3																	40571728		2203	4300	6503	SO:0001819	synonymous_variant	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40571728G>A	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.180G>A	3.37:g.40571728G>A						ZNF621_uc003ckn.2_Silent_p.L60L|ZNF621_uc003cko.2_Silent_p.L25L|ZNF621_uc011aze.1_Silent_p.L52L	p.L60L	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	4	396	+			60			KRAB.		Q14DC7|Q8TE91	Silent	SNP	ENST00000339296.5	37	c.180G>A	CCDS2693.1																																																																																				PASS	0.522	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		23	30	23	30	---	---	---	---
RTP3	83597	broad.mit.edu	37	3	46541960	46541960	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:46541960C>A	ENST00000296142.3	+	2	842	c.270C>A	c.(268-270)acC>acA	p.T90T		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	90					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.T90T(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GGGTGTTTACCCAGAGATGTA	0.512																																						uc003cps.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(268-270)ACC>ACA		transmembrane protein 7							129.0	131.0	130.0					3																	46541960		2203	4300	6503	SO:0001819	synonymous_variant	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46541960C>A	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.270C>A	3.37:g.46541960C>A							p.T90T	NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	338	+			90			Cytoplasmic (Potential).		A2RRP6	Silent	SNP	ENST00000296142.3	37	c.270C>A	CCDS2740.1																																																																																				PASS	0.512	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		23	109	23	109	---	---	---	---
PTH1R	5745	broad.mit.edu	37	3	46945048	46945048	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:46945048G>A	ENST00000313049.5	+	14	1887	c.1684G>A	c.(1684-1686)Ggg>Agg	p.G562R	PTH1R_ENST00000430002.2_Missense_Mutation_p.G562R|PTH1R_ENST00000449590.1_Missense_Mutation_p.G562R|PTH1R_ENST00000418619.1_Missense_Mutation_p.G562R			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	562					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)	p.G562R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CAAGGACGATGGGTTCCTCAA	0.662																																						uc003cqm.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1684-1686)GGG>AGG		parathyroid hormone receptor 1 precursor							85.0	88.0	87.0					3																	46945048		2203	4300	6503	SO:0001583	missense	5745	Ollier_disease_/_Maffuci_syndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46945048G>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1684G>A	3.37:g.46945048G>A	ENSP00000321999:p.Gly562Arg					PTH1R_uc003cqn.2_Missense_Mutation_p.G562R	p.G562R	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			16	1887	+			562			Cytoplasmic (Potential).		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.1684G>A	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105367	0.77096	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T	0.77620	0.67;0.67;0.67;0.67;-1.11	5.1	4.23	0.50019	.	.	.	.	.	T	0.67571	0.2907	L	0.34521	1.04	0.40478	D	0.980419	P	0.50272	0.933	B	0.42386	0.386	T	0.65981	-0.6036	9	0.23302	T	0.38	.	13.1013	0.59222	0.0773:0.0:0.9227:0.0	.	562	Q03431	PTH1R_HUMAN	R	562;562;562;562;867;151	ENSP00000402723:G562R;ENSP00000411424:G562R;ENSP00000413774:G562R;ENSP00000321999:G562R;ENSP00000396176:G151R	ENSP00000321999:G562R	G	+	1	0	PTH1R	46920052	1.000000	0.71417	0.026000	0.17262	0.980000	0.70556	5.857000	0.69525	1.517000	0.48917	0.563000	0.77884	GGG		PASS	0.662	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		11	27	11	27	---	---	---	---
CCDC51	79714	broad.mit.edu	37	3	48473987	48473987	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:48473987G>T	ENST00000395694.2	-	4	1152	c.1067C>A	c.(1066-1068)gCt>gAt	p.A356D	CCDC51_ENST00000447018.1_Missense_Mutation_p.A247D|PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000412398.2_Missense_Mutation_p.A247D|CCDC51_ENST00000395696.1_Missense_Mutation_p.A356D|CCDC51_ENST00000442740.1_Missense_Mutation_p.A247D|PLXNB1_ENST00000296440.6_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	356						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A356D(1)		endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTGGGCATAGCCCCGTCTGC	0.547																																						uc003csz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1066-1068)GCT>GAT		coiled-coil domain containing 51							47.0	51.0	49.0					3																	48473987		2002	4167	6169	SO:0001583	missense	79714					integral to membrane		g.chr3:48473987G>T	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.1067C>A	3.37:g.48473987G>T	ENSP00000379047:p.Ala356Asp					PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Missense_Mutation_p.A247D|CCDC51_uc003ctb.2_Missense_Mutation_p.A247D|CCDC51_uc003ctc.2_Missense_Mutation_p.A356D|CCDC51_uc003ctd.2_Missense_Mutation_p.A247D	p.A356D	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1188	-			356					Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	c.1067C>A	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078402	0.07184	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740	T;T;T;T;T	0.47177	0.87;0.85;0.87;0.85;0.87	5.79	3.99	0.46301	.	0.629960	0.17128	N	0.185921	T	0.40862	0.1134	L	0.60455	1.87	0.09310	N	1	P	0.36909	0.573	B	0.36766	0.232	T	0.24297	-1.0164	10	0.31617	T	0.26	-13.0806	6.7723	0.23601	0.1578:0.0:0.697:0.1453	.	356	Q96ER9	CCD51_HUMAN	D	247;356;247;356;247	ENSP00000412300:A247D;ENSP00000379047:A356D;ENSP00000401194:A247D;ENSP00000379049:A356D;ENSP00000392898:A247D	ENSP00000379047:A356D	A	-	2	0	CCDC51	48448991	0.000000	0.05858	0.014000	0.15608	0.001000	0.01503	0.232000	0.17891	0.772000	0.33382	-0.895000	0.02911	GCT		PASS	0.547	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		7	33	7	33	---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64142967	64142967	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:64142967C>A	ENST00000295902.6	-	5	1056	c.471G>T	c.(469-471)ccG>ccT	p.P157P	PRICKLE2_ENST00000564377.1_Silent_p.P213P	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	157	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P157P(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGAAGCACGGCGGGTGCCAGC	0.547																																						uc003dmf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(469-471)CCG>CCT		prickle-like 2							65.0	55.0	59.0					3																	64142967		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64142967C>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.471G>T	3.37:g.64142967C>A							p.P157P	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	5	1057	-		Lung NSC(201;0.136)	157			LIM zinc-binding 1.		Q0VF44	Silent	SNP	ENST00000295902.6	37	c.471G>T	CCDS2902.1																																																																																				PASS	0.547	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		5	15	5	15	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64547256	64547256	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:64547256C>T	ENST00000498707.1	-	30	5038	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K	ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000601022.1_RNA|ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1538K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1566	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1566K(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTACTTACTTCTTGCCATTCC	0.567																																						uc003dmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(4696-4698)GAA>AAA		ADAM metallopeptidase with thrombospondin type 1							137.0	131.0	133.0					3																	64547256		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64547256C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4696G>A	3.37:g.64547256C>T	ENSP00000418735:p.Glu1566Lys					ADAMTS9_uc011bfo.1_Missense_Mutation_p.E1538K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E1395K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.E477K|uc003dmi.1_5'Flank	p.E1566K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	30	4728	-		Lung NSC(201;0.00682)	1566			TSP type-1 13.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4696G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087869	0.55968	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.54279	0.58;0.58	5.71	2.4	0.29515	.	0.641504	0.15785	N	0.244740	T	0.35566	0.0936	L	0.31664	0.95	0.80722	D	1	B;B;B	0.24368	0.005;0.102;0.005	B;B;B	0.23852	0.026;0.049;0.014	T	0.06391	-1.0829	10	0.17369	T	0.5	.	8.1035	0.30872	0.1176:0.689:0.1206:0.0728	.	1538;1566;1566	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	K	1538;1566	ENSP00000295903:E1538K;ENSP00000418735:E1566K	ENSP00000295903:E1538K	E	-	1	0	ADAMTS9	64522296	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.710000	0.25748	0.716000	0.32124	0.591000	0.81541	GAA		PASS	0.567	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			23	42	23	42	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66502051	66502051	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:66502051G>C	ENST00000273261.3	-	3	821	c.297C>G	c.(295-297)ctC>ctG	p.L99L	LRIG1_ENST00000383703.3_Silent_p.L99L	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	99					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.L99L(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATTATTATTGAGGTACCTGT	0.428																																						uc003dmx.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(295-297)CTC>CTG		leucine-rich repeats and immunoglobulin-like							151.0	134.0	140.0					3																	66502051		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66502051G>C	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.297C>G	3.37:g.66502051G>C						LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Silent_p.L99L	p.L99L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	3	311	-		Lung NSC(201;0.0101)	99			Extracellular (Potential).|LRR 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.297C>G	CCDS33783.1																																																																																				PASS	0.428	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		28	58	28	58	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97356890	97356890	+	Silent	SNP	G	G	C	rs370326315		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:97356890G>C	ENST00000514100.1	+	11	1166	c.924G>C	c.(922-924)gtG>gtC	p.V308V	EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000389672.5_Silent_p.V916V|EPHA6_ENST00000502694.1_Silent_p.V308V	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	822						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.V822V(1)|p.V308V(1)|p.V916V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTCCAGAGTGCTGGAAGATG	0.368																																						uc010how.1																			3	Substitution - coding silent(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2746-2748)GTG>GTC		EPH receptor A6 isoform a		G	,	0,3756		0,0,1878	89.0	87.0	88.0		2748,924	1.3	1.0	3		88	1,8251		0,1,4125	no	coding-synonymous,coding-synonymous	EPHA6	NM_001080448.2,NM_173655.2	,	0,1,6003	CC,CG,GG		0.0121,0.0,0.0083	,	916/1131,308/335	97356890	1,12007	1878	4126	6004	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97356890G>C	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.924G>C	3.37:g.97356890G>C						EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Silent_p.V308V|EPHA6_uc003drr.3_Silent_p.V308V|EPHA6_uc003drt.2_Silent_p.V308V|EPHA6_uc010hox.1_RNA	p.V916V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			14	2791	+			821			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Silent	SNP	ENST00000514100.1	37	c.2748G>C																																																																																					PASS	0.368	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		14	44	14	44	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983218	97983218	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:97983218C>T	ENST00000383696.2	+	1	131	c.90C>T	c.(88-90)ctC>ctT	p.L30L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L30L(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGTTTGTTCTCACAGGATTTT	0.398																																						uc003dsi.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(88-90)CTC>CTT		olfactory receptor, family 5, subfamily H,							166.0	170.0	169.0					3																	97983218		2203	4299	6502	SO:0001819	synonymous_variant	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983218C>T	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.90C>T	3.37:g.97983218C>T							p.L30L	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	90	+			30			Extracellular (Potential).		Q6IF88	Silent	SNP	ENST00000383696.2	37	c.90C>T	CCDS33800.1																																																																																				PASS	0.398	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			38	119	38	119	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983944	97983944	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:97983944C>A	ENST00000383696.2	+	1	857	c.816C>A	c.(814-816)acC>acA	p.T272T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	272			T -> A (in dbSNP:rs9853906).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T272T(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCCCCCTCACCTTCAAATATC	0.408																																						uc003dsi.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(814-816)ACC>ACA		olfactory receptor, family 5, subfamily H,							57.0	56.0	56.0					3																	97983944		2203	4299	6502	SO:0001819	synonymous_variant	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983944C>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.816C>A	3.37:g.97983944C>A							p.T272T	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	816	+			272			Helical; Name=6; (Potential).		Q6IF88	Silent	SNP	ENST00000383696.2	37	c.816C>A	CCDS33800.1																																																																																				PASS	0.408	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			17	50	17	50	---	---	---	---
TMEM45A	55076	broad.mit.edu	37	3	100287758	100287758	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:100287758G>T	ENST00000323523.4	+	5	994	c.681G>T	c.(679-681)tgG>tgT	p.W227C	TMEM45A_ENST00000403410.1_Missense_Mutation_p.W243C	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	227						integral component of membrane (GO:0016021)		p.W227C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						GCTTTTGTTGGCATTATGCAG	0.393																																						uc003dtz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(679-681)TGG>TGT		transmembrane protein 45A							258.0	249.0	252.0					3																	100287758		2203	4300	6503	SO:0001583	missense	55076					integral to membrane		g.chr3:100287758G>T	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.681G>T	3.37:g.100287758G>T	ENSP00000319009:p.Trp227Cys					TMEM45A_uc003dua.1_Missense_Mutation_p.W243C|TMEM45A_uc003dub.1_RNA	p.W227C	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN			5	994	+			227			Helical; (Potential).		Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	37	c.681G>T	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388935	0.42308	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	T;T	0.53423	0.62;0.62	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	M	0.90977	3.165	0.80722	D	1	P	0.44380	0.834	P	0.48770	0.589	T	0.74293	-0.3712	10	0.54805	T	0.06	-10.6106	18.8449	0.92202	0.0:0.0:1.0:0.0	.	227	Q9NWC5	TM45A_HUMAN	C	227;243	ENSP00000319009:W227C;ENSP00000385089:W243C	ENSP00000319009:W227C	W	+	3	0	TMEM45A	101770448	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	6.914000	0.75764	2.751000	0.94390	0.555000	0.69702	TGG		PASS	0.393	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		51	96	51	96	---	---	---	---
TRMT10C	54931	broad.mit.edu	37	3	101283908	101283908	+	Nonsense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:101283908A>T	ENST00000309922.6	+	2	437	c.283A>T	c.(283-285)Aga>Tga	p.R95*		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	95					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R95*(1)									AGCTGCCACCAGAGAGTTCAT	0.418																																						uc003duz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(283-285)AGA>TGA		RNA (guanine-9-) methyltransferase domain							102.0	94.0	97.0					3																	101283908		1899	4135	6034	SO:0001587	stop_gained	54931				tRNA processing	mitochondrion	methyltransferase activity|protein binding	g.chr3:101283908A>T	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.283A>T	3.37:g.101283908A>T	ENSP00000312356:p.Arg95*						p.R95*	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN			2	431	+			95					Q9NRG5|Q9NX54|Q9Y596	Nonsense_Mutation	SNP	ENST00000309922.6	37	c.283A>T	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866526	0.91511	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	.	.	.	6.17	6.17	0.99709	.	0.053965	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2245	12.5908	0.56441	0.7594:0.2406:0.0:0.0	.	.	.	.	X	95	.	ENSP00000312356:R95X	R	+	1	2	RG9MTD1	102766598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.885000	0.56182	2.371000	0.80710	0.533000	0.62120	AGA		PASS	0.418	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		23	66	23	66	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105252517	105252517	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:105252517T>A	ENST00000306107.5	+	5	1030	c.530T>A	c.(529-531)cTa>cAa	p.L177Q	ALCAM_ENST00000389927.4_5'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.L177Q|ALCAM_ENST00000486979.2_Missense_Mutation_p.L126Q|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	177	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.L177Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGAAAAGTGCTACATCCCCTT	0.433																																						uc003dvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(529-531)CTA>CAA		activated leukocyte cell adhesion molecule							149.0	135.0	140.0					3																	105252517		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105252517T>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.530T>A	3.37:g.105252517T>A	ENSP00000305988:p.Leu177Gln					ALCAM_uc003dvw.1_Missense_Mutation_p.L177Q|ALCAM_uc003dvy.2_Missense_Mutation_p.L177Q|ALCAM_uc011bhh.1_Missense_Mutation_p.L126Q|ALCAM_uc010hpp.2_5'UTR	p.L177Q	NM_001627	NP_001618	Q13740	CD166_HUMAN			5	1070	+			177			Extracellular (Potential).|Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.530T>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865699	0.71949	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.53857	0.6;0.6;0.6	5.84	5.84	0.93424	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74627	0.3741	M	0.86097	2.795	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.65323	0.934;0.934	T	0.79408	-0.1816	10	0.87932	D	0	-9.8313	16.226	0.82293	0.0:0.0:0.0:1.0	.	177;177	B4DTU0;Q13740	.;CD166_HUMAN	Q	177;177;126	ENSP00000305988:L177Q;ENSP00000419236:L177Q;ENSP00000418213:L126Q	ENSP00000305988:L177Q	L	+	2	0	ALCAM	106735207	0.977000	0.34250	0.951000	0.38953	0.748000	0.42578	5.444000	0.66587	2.230000	0.72887	0.528000	0.53228	CTA		PASS	0.433	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		20	57	20	57	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109047846	109047846	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:109047846C>A	ENST00000335658.6	-	6	823	c.769G>T	c.(769-771)Gtt>Ttt	p.V257F	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	257					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V257F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTTTCTGGAACCCAGGCTTGA	0.527																																						uc003dxq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(769-771)GTT>TTT		developmental pluripotency associated 4							68.0	59.0	62.0					3																	109047846		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109047846C>A	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.769G>T	3.37:g.109047846C>A	ENSP00000335306:p.Val257Phe					DPPA4_uc011bho.1_Missense_Mutation_p.G158V	p.V257F	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			6	824	-			257					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.769G>T	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191930	0.78902	.	.	ENSG00000121570	ENST00000335658	T	0.44083	0.93	4.91	4.91	0.64330	.	0.000000	0.51477	D	0.000084	T	0.60818	0.2298	M	0.73217	2.22	0.39925	D	0.974207	D	0.69078	0.997	D	0.64877	0.93	T	0.65742	-0.6094	10	0.87932	D	0	-25.4667	13.7846	0.63102	0.0:1.0:0.0:0.0	.	257	Q7L190	DPPA4_HUMAN	F	257	ENSP00000335306:V257F	ENSP00000335306:V257F	V	-	1	0	DPPA4	110530536	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.134000	0.50538	2.708000	0.92522	0.467000	0.42956	GTT		PASS	0.527	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		5	13	5	13	---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113329854	113329854	+	Splice_Site	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:113329854G>C	ENST00000264852.4	+	18	2446		c.e18-1		SIDT1_ENST00000463226.1_Splice_Site|SIDT1_ENST00000393830.3_Splice_Site	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1						dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGGGTCCTCAGACACCTCCTT	0.502																																						uc003eak.2																			1	Unknown(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.e18-1		SID1 transmembrane family, member 1 precursor							151.0	147.0	148.0					3																	113329854		2203	4300	6503	SO:0001630	splice_region_variant	54847					integral to membrane		g.chr3:113329854G>C	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1721-1G>C	3.37:g.113329854G>C						SIDT1_uc011bif.1_Splice_Site|SIDT1_uc003eaj.1_Splice_Site_p.D574_splice|SIDT1_uc011big.1_Splice_Site_p.D327_splice|SIDT1_uc011bih.1_Splice_Site|SIDT1_uc011bii.1_Splice_Site_p.D27_splice	p.D574_splice	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			18	2372	+								Q17RR4	Splice_Site	SNP	ENST00000264852.4	37	c.1721_splice	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119903	0.77323	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIDT1	114812544	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	9.776000	0.99001	2.728000	0.93425	0.643000	0.83706	.		PASS	0.502	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	Intron	31	65	31	65	---	---	---	---
LSAMP	4045	broad.mit.edu	37	3	115571360	115571360	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:115571360C>T	ENST00000490035.2	-	4	1118	c.619G>A	c.(619-621)Gat>Aat	p.D207N	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.D204N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	207	Ig-like C2-type 2.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D207N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TGTTTGACATCCGCCGAGGAG	0.527																																						uc003ebt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(619-621)GAT>AAT		limbic system-associated membrane protein							143.0	121.0	128.0					3																	115571360		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115571360C>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.619G>A	3.37:g.115571360C>T	ENSP00000419000:p.Asp207Asn					LSAMP_uc011bis.1_Missense_Mutation_p.D207N	p.D207N	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	4	1119	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	207			Ig-like C2-type 2.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.619G>A	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455805	0.96223	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.67698	-0.28;-0.28;-0.28	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.83635	0.5297	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.82890	-0.0233	10	0.59425	D	0.04	-7.6137	20.8794	0.99867	0.0:1.0:0.0:0.0	.	207;207	B2RCU8;Q13449	.;LSAMP_HUMAN	N	191;207;204	ENSP00000328455:D191N;ENSP00000419000:D207N;ENSP00000443429:D204N	ENSP00000328455:D191N	D	-	1	0	LSAMP	117054050	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.026000	0.76455	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.527	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		5	37	5	37	---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120977893	120977893	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:120977893G>T	ENST00000273666.6	+	18	2107	c.1836G>T	c.(1834-1836)gtG>gtT	p.V612V	STXBP5L_ENST00000497029.1_Silent_p.V612V|STXBP5L_ENST00000471454.1_Silent_p.V612V|STXBP5L_ENST00000492541.1_Silent_p.V612V|STXBP5L_ENST00000472879.1_Silent_p.V612V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	612					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V612V(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTTAAAGTGTGAAGACACGGC	0.363																																						uc003eec.3																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)	9						c.(1834-1836)GTG>GTT		syntaxin binding protein 5-like							98.0	94.0	95.0					3																	120977893		1878	4114	5992	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120977893G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1836G>T	3.37:g.120977893G>T						STXBP5L_uc011bji.1_Silent_p.V612V	p.V612V	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	18	1976	+			612			WD 9.		Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.1836G>T	CCDS43137.1																																																																																				PASS	0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			23	42	23	42	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121230774	121230774	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:121230774C>G	ENST00000264233.5	-	10	1699	c.1571G>C	c.(1570-1572)gGa>gCa	p.G524A		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	524	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.G659A(1)		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)		TACTTCTTCTCCTTCTCGTCT	0.383								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(1570-1572)GGA>GCA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							111.0	107.0	108.0					3																	121230774		2203	4300	6503	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.chr3:121230774C>G	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.1571G>C	3.37:g.121230774C>G	ENSP00000264233:p.Gly524Ala						p.G524A	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	10	1700	-			524			Helicase C-terminal.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.1571G>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886577	0.72410	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.53423	0.62	5.23	3.42	0.39159	Helicase, C-terminal (1);	0.062472	0.64402	N	0.000005	T	0.52789	0.1756	L	0.31926	0.97	0.43841	D	0.996428	D	0.63046	0.992	D	0.63488	0.915	T	0.52275	-0.8597	10	0.66056	D	0.02	.	10.8455	0.46741	0.0:0.8439:0.0:0.1561	.	524	O75417	DPOLQ_HUMAN	A	147;524;660	ENSP00000264233:G524A	ENSP00000264233:G524A	G	-	2	0	POLQ	122713464	1.000000	0.71417	0.968000	0.41197	0.993000	0.82548	4.357000	0.59436	0.563000	0.29222	0.462000	0.41574	GGA		PASS	0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		13	66	13	66	---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121340752	121340752	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:121340752C>A	ENST00000338040.4	+	3	890	c.476C>A	c.(475-477)aCt>aAt	p.T159N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	159					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T159N(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAGGAACCAACTATGAATGGT	0.507																																						uc003eeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(475-477)ACT>AAT		F-box protein 40							96.0	103.0	101.0					3																	121340752		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340752C>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.476C>A	3.37:g.121340752C>A	ENSP00000337510:p.Thr159Asn						p.T159N	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	686	+			159					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.476C>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.976534	0.00452	.	.	ENSG00000163833	ENST00000338040	T	0.42900	0.96	5.25	-4.7	0.03288	.	2.199110	0.01748	N	0.029752	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.18871	0.023	T	0.06752	-1.0809	10	0.17832	T	0.49	8.7394	1.027	0.01529	0.3121:0.3004:0.0961:0.2914	.	159	Q9UH90	FBX40_HUMAN	N	159	ENSP00000337510:T159N	ENSP00000337510:T159N	T	+	2	0	FBXO40	122823442	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.022000	0.12480	-0.568000	0.06038	-0.907000	0.02831	ACT		PASS	0.507	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		8	25	8	25	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121445853	121445853	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:121445853T>C	ENST00000340645.5	-	5	563	c.438A>G	c.(436-438)atA>atG	p.I146M	GOLGB1_ENST00000393667.3_Missense_Mutation_p.I146M|GOLGB1_ENST00000472829.1_5'Flank	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	146					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.I146M(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTATCTTTTCTATTTCCATCT	0.378																																						uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(436-438)ATA>ATG		golgi autoantigen, golgin subfamily b,							200.0	173.0	182.0					3																	121445853		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121445853T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.438A>G	3.37:g.121445853T>C	ENSP00000341848:p.Ile146Met					GOLGB1_uc010hrc.2_Missense_Mutation_p.I146M|GOLGB1_uc003eej.3_Missense_Mutation_p.I107M|GOLGB1_uc011bjm.1_Missense_Mutation_p.I107M|GOLGB1_uc010hrd.1_Missense_Mutation_p.I146M	p.I146M	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	5	564	-			146			Potential.|Cytoplasmic (Potential).		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.438A>G	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.647|1.647	-0.514952|-0.514952	0.04200|0.04200	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.27402|.	2.33;2.33;1.67|.	5.47|5.47	-4.62|-4.62	0.03370|0.03370	.|.	1.493090|.	0.04043|.	N|.	0.303528|.	T|.	0.22085|.	0.0532|.	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.09022|.	0.001;0.002;0.001;0.001;0.001|.	B;B;B;B;B|.	0.15484|.	0.005;0.013;0.005;0.008;0.005|.	T|.	0.33624|.	-0.9861|.	10|.	0.41790|.	T|.	0.15|.	.|.	2.8977|2.8977	0.05696|0.05696	0.138:0.417:0.1423:0.3027|0.138:0.417:0.1423:0.3027	.|.	107;146;146;146;146|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	M|W	146;146;146;33|92	ENSP00000341848:I146M;ENSP00000377275:I146M;ENSP00000418231:I146M|.	ENSP00000341848:I146M|.	I|X	-|-	3|2	3|0	GOLGB1|GOLGB1	122928543|122928543	0.002000|0.002000	0.14202|0.14202	0.268000|0.268000	0.24571|0.24571	0.056000|0.056000	0.15407|0.15407	-0.319000|-0.319000	0.08039|0.08039	-0.373000|-0.373000	0.07979|0.07979	-0.263000|-0.263000	0.10527|0.10527	ATA|TAG		PASS	0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		14	36	14	36	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124114075	124114075	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:124114075C>A	ENST00000240874.3	+	12	2207	c.2050C>A	c.(2050-2052)Cag>Aag	p.Q684K	KALRN_ENST00000360013.3_Missense_Mutation_p.Q684K|KALRN_ENST00000460856.1_Missense_Mutation_p.Q684K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	684	Poly-Gln.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q684K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAGCAGTTCCAGCAGCAGCA	0.537																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(2050-2052)CAG>AAG		kalirin, RhoGEF kinase isoform 1							75.0	65.0	68.0					3																	124114075		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124114075C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2050C>A	3.37:g.124114075C>A	ENSP00000240874:p.Gln684Lys					KALRN_uc010hrv.1_Missense_Mutation_p.Q684K|KALRN_uc003ehf.1_Missense_Mutation_p.Q684K|KALRN_uc011bjy.1_Missense_Mutation_p.Q684K|KALRN_uc003ehh.1_Missense_Mutation_p.Q43K	p.Q684K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			12	2177	+			684			Poly-Gln.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.2050C>A	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	4.464	0.086002	0.08583	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	T;T;T;T	0.67523	-0.27;-0.27;-0.27;1.6	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.28274	0.84	0.80722	D	1	P;B;B;P	0.39060	0.526;0.001;0.067;0.657	B;B;B;B	0.40565	0.179;0.004;0.05;0.333	T	0.49881	-0.8892	10	0.06625	T	0.88	.	14.6939	0.69107	0.0:0.8554:0.1446:0.0	.	684;43;684;684	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	K	684;684;684;160	ENSP00000418611:Q684K;ENSP00000240874:Q684K;ENSP00000353109:Q684K;ENSP00000402950:Q160K	ENSP00000240874:Q684K	Q	+	1	0	KALRN	125596765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.514000	0.35834	2.756000	0.94617	0.655000	0.94253	CAG		PASS	0.537	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		9	14	9	14	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124431863	124431863	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:124431863G>A	ENST00000291478.5	+	25	3229	c.3066G>A	c.(3064-3066)atG>atA	p.M1022I	KALRN_ENST00000360013.3_Missense_Mutation_p.M2719I|KALRN_ENST00000428018.2_Missense_Mutation_p.M990I	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2718					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M1022I(1)|p.M2719I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAAAAAAATGAAGAAGAAAG	0.473																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8155-8157)ATG>ATA		kalirin, RhoGEF kinase isoform 1							92.0	95.0	94.0					3																	124431863		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124431863G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3066G>A	3.37:g.124431863G>A	ENSP00000291478:p.Met1022Ile					KALRN_uc003ehk.2_Missense_Mutation_p.M1022I	p.M2719I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			58	8284	+			2718			Protein kinase.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.8157G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013264	0.54468	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	T;T;T	0.64991	-0.13;-0.13;-0.13	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053427	0.64402	D	0.000001	T	0.46852	0.1414	N	0.25031	0.7	0.35326	D	0.785209	B;B	0.21688	0.059;0.033	B;B	0.22880	0.042;0.017	T	0.54649	-0.8262	10	0.38643	T	0.18	.	11.2382	0.48953	0.0835:0.0:0.9165:0.0	.	1022;2718	C9JQ37;O60229	.;KALRN_HUMAN	I	2719;1022;990	ENSP00000353109:M2719I;ENSP00000291478:M1022I;ENSP00000402419:M990I	ENSP00000291478:M1022I	M	+	3	0	KALRN	125914553	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.484000	0.81180	2.401000	0.81631	0.558000	0.71614	ATG		PASS	0.473	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	42	4	42	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126749203	126749203	+	Missense_Mutation	SNP	G	G	C	rs565541810		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:126749203G>C	ENST00000393409.2	+	28	5179	c.5179G>C	c.(5179-5181)Gac>Cac	p.D1727H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D1704H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1727					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.D1704H(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGAGCAGGCCGACAAGCACCA	0.622																																						uc003ejg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5110-5112)GAC>CAC		plexin A1							137.0	121.0	126.0					3																	126749203		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126749203G>C	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5179G>C	3.37:g.126749203G>C	ENSP00000377061:p.Asp1727His					PLXNA1_uc003ejh.2_Missense_Mutation_p.D372H	p.D1704H	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	28	5114	+			1727			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.5110G>C	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206475	0.58343	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12361	2.69;2.69	3.52	3.52	0.40303	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.158796	0.40302	N	0.001121	T	0.35682	0.0940	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.982;1.0	D;D	0.79108	0.96;0.992	T	0.26052	-1.0114	10	0.52906	T	0.07	.	15.5818	0.76448	0.0:0.0:1.0:0.0	.	341;1727	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	H	1727;1704	ENSP00000377061:D1727H;ENSP00000251772:D1704H	ENSP00000251772:D1704H	D	+	1	0	PLXNA1	128231893	1.000000	0.71417	0.954000	0.39281	0.257000	0.26127	9.411000	0.97342	1.953000	0.56701	0.313000	0.20887	GAC		PASS	0.622	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		22	60	22	60	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130188024	130188024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:130188024G>A	ENST00000432398.2	+	38	7670	c.7176G>A	c.(7174-7176)tgG>tgA	p.W2392*	COL6A5_ENST00000265379.6_Nonsense_Mutation_p.W2392*	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2392	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.W431*(1)|p.W2392*(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCTTGCAGTGGACAATTGACA	0.383																																						uc010htj.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(7174-7176)TGG>TGA		collagen, type XXIX, alpha 1							125.0	112.0	116.0					3																	130188024		1856	4106	5962	SO:0001587	stop_gained	256076				axon guidance|cell adhesion	collagen		g.chr3:130188024G>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7176G>A	3.37:g.130188024G>A	ENSP00000390895:p.Trp2392*					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Nonsense_Mutation_p.W431*	p.W2392*	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			38	7670	+			2392			VWFA 10.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonsense_Mutation	SNP	ENST00000432398.2	37	c.7176G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	17.245667|17.245667	0.99882|0.99882	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|.	.|.	.|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.000000	.|0.49916	.|D	.|0.000129	T|.	0.33876|.	0.0878|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33574|.	-0.9863|.	3|.	.|0.02654	.|T	.|1	.|.	12.88|12.88	0.58012|0.58012	0.0:0.0:0.837:0.163|0.0:0.0:0.837:0.163	.|.	.|.	.|.	.|.	N|X	644|2392;2392;335;227	.|.	.|ENSP00000265379:W2392X	D|W	+|+	1|3	0|0	COL6A5|COL6A5	131670714|131670714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	5.175000|5.175000	0.65021|0.65021	2.506000|2.506000	0.84524|0.84524	0.655000|0.655000	0.94253|0.94253	GAC|TGG		PASS	0.383	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		8	62	8	62	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132203456	132203456	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:132203456G>T	ENST00000260818.6	+	29	3455	c.3207G>T	c.(3205-3207)cgG>cgT	p.R1069R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1069					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.R1069R(1)|p.R452R(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CCATCATTCGGCCTCTACCCA	0.358																																						uc003eor.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(3205-3207)CGG>CGT		DnaJ (Hsp40) homolog, subfamily C, member 13							126.0	126.0	126.0					3																	132203456		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132203456G>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3207G>T	3.37:g.132203456G>T							p.R1069R	NM_015268	NP_056083	O75165	DJC13_HUMAN			29	3272	+			1069					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.3207G>T	CCDS33857.1																																																																																				PASS	0.358	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		9	79	9	79	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133098820	133098820	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:133098820G>C	ENST00000321871.6	+	4	475	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	TMEM108_ENST00000393130.3_Missense_Mutation_p.E89Q|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Missense_Mutation_p.E89Q	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	89	Pro-rich.					integral component of membrane (GO:0016021)		p.E89Q(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACCCCGTGCAGAGGGGCACCC	0.627																																						uc003eph.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(265-267)GAG>CAG		transmembrane protein 108 precursor							94.0	83.0	87.0					3																	133098820		2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133098820G>C	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.265G>C	3.37:g.133098820G>C	ENSP00000324651:p.Glu89Gln					TMEM108_uc003epi.2_Missense_Mutation_p.E89Q|TMEM108_uc003epj.1_Missense_Mutation_p.E89Q|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.E40Q	p.E89Q	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	539	+			89			Pro-rich.|Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.265G>C	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	g	1.992	-0.431661	0.04669	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000514894;ENST00000512662;ENST00000512137;ENST00000515826;ENST00000510183	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	3.27	0.449	0.16619	.	1.113020	0.07012	N	0.825287	T	0.29524	0.0736	N	0.22421	0.69	0.09310	N	1	P;B	0.37015	0.578;0.255	B;B	0.33042	0.157;0.075	T	0.17137	-1.0379	10	0.33940	T	0.23	0.2873	5.7693	0.18243	0.3664:0.0:0.6336:0.0	.	89;89	E9PB58;Q6UXF1	.;TM108_HUMAN	Q	89;89;40;40;89;89;89	ENSP00000324651:E89Q;ENSP00000376838:E89Q;ENSP00000422072:E40Q;ENSP00000427447:E40Q;ENSP00000426301:E89Q;ENSP00000423338:E89Q;ENSP00000421486:E89Q	ENSP00000324651:E89Q	E	+	1	0	TMEM108	134581510	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	0.650000	0.24858	0.076000	0.16826	-0.230000	0.12252	GAG		PASS	0.627	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		13	59	13	59	---	---	---	---
SRPRB	58477	broad.mit.edu	37	3	133526599	133526599	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:133526599G>T	ENST00000466490.2	+	4	544	c.259G>T	c.(259-261)Ggc>Tgc	p.G87C		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	87					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.G87C(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GTTGTTAACAGGCCTTTATAG	0.368																																						uc003epx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)GGC>TGC		signal recognition particle receptor, beta							149.0	144.0	145.0					3																	133526599		2203	4300	6503	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133526599G>T	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.259G>T	3.37:g.133526599G>T	ENSP00000418401:p.Gly87Cys						p.G87C	NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN			3	275	+			87					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.259G>T	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296227	0.81025	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.57273	2.15;0.41	5.51	5.51	0.81932	.	0.411039	0.26149	N	0.026041	T	0.78013	0.4217	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81972	-0.0688	10	0.72032	D	0.01	-19.1392	17.9825	0.89146	0.0:0.0:1.0:0.0	.	87	Q9Y5M8	SRPRB_HUMAN	C	87	ENSP00000418401:G87C;ENSP00000417096:G87C	ENSP00000418401:G87C	G	+	1	0	SRPRB	135009289	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.227000	0.78070	2.585000	0.87301	0.650000	0.86243	GGC		PASS	0.368	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			17	39	17	39	---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134269059	134269059	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:134269059G>C	ENST00000337090.3	+	11	1510	c.1337G>C	c.(1336-1338)aGa>aCa	p.R446T	CEP63_ENST00000332047.5_Missense_Mutation_p.R400T|CEP63_ENST00000606977.1_Missense_Mutation_p.R446T|CEP63_ENST00000354446.3_Missense_Mutation_p.R400T|CEP63_ENST00000513612.2_Missense_Mutation_p.R446T|CEP63_ENST00000383229.3_Missense_Mutation_p.R446T			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	446					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.R446T(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGCGACTCAGAGCAGAGATG	0.393																																						uc003eqo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1336-1338)AGA>ACA		centrosomal protein 63 isoform a							84.0	82.0	83.0					3																	134269059		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134269059G>C	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1337G>C	3.37:g.134269059G>C	ENSP00000336524:p.Arg446Thr					CEP63_uc003eql.1_Missense_Mutation_p.R400T|CEP63_uc003eqm.2_Missense_Mutation_p.R400T|CEP63_uc003eqn.1_Missense_Mutation_p.R446T|CEP63_uc003eqp.1_Missense_Mutation_p.R75T	p.R446T	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			12	1786	+			446			Potential.		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1337G>C	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.93|16.93	3.256982|3.256982	0.59321|0.59321	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000504929|ENST00000332047;ENST00000354446;ENST00000337090;ENST00000383229;ENST00000513612;ENST00000514678	.|T;T;T;T;T;T	.|0.40225	.|1.1;1.59;1.81;1.08;1.81;1.04	5.49|5.49	-1.49|-1.49	0.08718|0.08718	.|.	.|0.595355	.|0.16920	.|N	.|0.194134	T|T	0.34513|0.34513	0.0900|0.0900	L|L	0.38175|0.38175	1.15|1.15	0.23435|0.23435	N|N	0.99769|0.99769	.|B;B;P;B	.|0.35684	.|0.082;0.227;0.515;0.039	.|B;B;B;B	.|0.41299	.|0.045;0.135;0.353;0.047	T|T	0.36648|0.36648	-0.9739|-0.9739	5|10	.|0.66056	.|D	.|0.02	-1.7799|-1.7799	10.8187|10.8187	0.46591|0.46591	0.3285:0.0:0.6715:0.0|0.3285:0.0:0.6715:0.0	.|.	.|446;446;400;400	.|Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	.|CEP63_HUMAN;.;.;.	Q|T	135|400;400;446;446;446;119	.|ENSP00000328382:R400T;ENSP00000346432:R400T;ENSP00000336524:R446T;ENSP00000372716:R446T;ENSP00000426129:R446T;ENSP00000427526:R119T	.|ENSP00000328382:R400T	E|R	+|+	1|2	0|0	CEP63|CEP63	135751749|135751749	0.651000|0.651000	0.27340|0.27340	0.880000|0.880000	0.34516|0.34516	0.917000|0.917000	0.54804|0.54804	0.544000|0.544000	0.23253|0.23253	-0.173000|-0.173000	0.10761|0.10761	-0.247000|-0.247000	0.11927|0.11927	GAG|AGA		PASS	0.393	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		29	76	29	76	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138738743	138738743	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:138738743G>A	ENST00000329447.5	-	1	1025	c.761C>T	c.(760-762)cCt>cTt	p.P254L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	254	Pro-rich.							p.P254L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGCACGGAGGGCGTTCCGG	0.672																																						uc003esy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(760-762)CCT>CTT		proline rich 23B							20.0	25.0	23.0					3																	138738743		2195	4291	6486	SO:0001583	missense	389151							g.chr3:138738743G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.761C>T	3.37:g.138738743G>A	ENSP00000328768:p.Pro254Leu						p.P254L	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	1026	-			254			Pro-rich.		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.761C>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861513	0.51482	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.63	2.72	0.32119	.	0.508313	0.16732	N	0.201816	T	0.56124	0.1964	M	0.70275	2.135	0.09310	N	1	D	0.67145	0.996	P	0.62491	0.903	T	0.43686	-0.9376	9	0.87932	D	0	.	8.2381	0.31638	0.0:0.0:0.7627:0.2373	.	254	Q6ZRT6	PR23B_HUMAN	L	254	.	ENSP00000328768:P254L	P	-	2	0	PRR23B	140221433	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.979000	0.29500	1.064000	0.40671	0.655000	0.94253	CCT		PASS	0.672	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		8	15	8	15	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140140019	140140019	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:140140019G>C	ENST00000458420.3	+	5	880	c.690G>C	c.(688-690)gaG>gaC	p.E230D		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	230	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.E230D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACCAGTATGAGATCCTGGTGA	0.517										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(688-690)GAG>GAC		calsyntenin 2 precursor							166.0	153.0	158.0					3																	140140019		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140140019G>C	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.690G>C	3.37:g.140140019G>C	ENSP00000402460:p.Glu230Asp	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.E230D	p.E230D	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			5	880	+			230			Extracellular (Potential).|Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.690G>C	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012958	0.35511	.	.	ENSG00000158258	ENST00000458420	T	0.55413	0.52	5.7	4.83	0.62350	Cadherin (5);Cadherin-like (1);	0.260319	0.37809	N	0.001938	T	0.48095	0.1481	M	0.73598	2.24	0.42438	D	0.992709	B	0.06786	0.001	B	0.10450	0.005	T	0.41161	-0.9524	10	0.13108	T	0.6	-4.5927	8.6431	0.33989	0.1707:0.0:0.8293:0.0	.	230	Q9H4D0	CSTN2_HUMAN	D	230	ENSP00000402460:E230D	ENSP00000402460:E230D	E	+	3	2	CLSTN2	141622709	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.312000	0.33574	1.409000	0.46915	0.655000	0.94253	GAG		PASS	0.517	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		17	99	17	99	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141526697	141526697	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:141526697G>C	ENST00000264952.2	+	3	1398	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.E421Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TAACTTCACAGAGGAAGCAAA	0.428																																						uc011bnd.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1261-1263)GAG>CAG		G-protein-coupled receptor kinase 7 precursor							93.0	85.0	88.0					3																	141526697		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141526697G>C		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1261G>C	3.37:g.141526697G>C	ENSP00000264952:p.Glu421Gln						p.E421Q	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			3	1345	+			421			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1261G>C	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903567	0.72754	.	.	ENSG00000114124	ENST00000264952	T	0.67171	-0.25	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114581	0.64402	D	0.000019	T	0.69993	0.3173	L	0.28740	0.885	0.43564	D	0.995886	D	0.67145	0.996	P	0.59357	0.856	T	0.68360	-0.5429	10	0.30854	T	0.27	-16.9366	18.1845	0.89789	0.0:0.0:1.0:0.0	.	421	Q8WTQ7	GRK7_HUMAN	Q	421	ENSP00000264952:E421Q	ENSP00000264952:E421Q	E	+	1	0	GRK7	143009387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.269000	0.72558	2.283000	0.76528	0.650000	0.86243	GAG		PASS	0.428	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		11	41	11	41	---	---	---	---
TRPC1	7220	broad.mit.edu	37	3	142455268	142455268	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:142455268G>C	ENST00000476941.1	+	2	706	c.220G>C	c.(220-222)Gac>Cac	p.D74H	TRPC1_ENST00000273482.6_Missense_Mutation_p.D74H	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	74					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.D74H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CAGTTCAGGTGACTTGAACAT	0.333																																						uc003evc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(220-222)GAC>CAC		transient receptor potential cation channel,							134.0	135.0	135.0					3																	142455268		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142455268G>C	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.220G>C	3.37:g.142455268G>C	ENSP00000419313:p.Asp74His					TRPC1_uc003evb.2_Missense_Mutation_p.D74H	p.D74H	NM_003304	NP_003295	P48995	TRPC1_HUMAN			2	356	+			74			Cytoplasmic (Potential).|ANK 1.		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.220G>C	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247184	0.39697	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.53857	0.6;0.6	5.75	4.88	0.63580	Ankyrin repeat-containing domain (3);	0.090141	0.85682	D	0.000000	T	0.42585	0.1209	N	0.16903	0.455	0.50467	D	0.999876	B;B	0.32425	0.371;0.053	B;B	0.38985	0.287;0.06	T	0.36237	-0.9756	10	0.35671	T	0.21	-1.7806	14.8025	0.69926	0.0692:0.0:0.9308:0.0	.	74;74	P48995;P48995-2	TRPC1_HUMAN;.	H	74	ENSP00000419313:D74H;ENSP00000273482:D74H	ENSP00000273482:D74H	D	+	1	0	TRPC1	143937958	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.379000	0.97198	1.434000	0.47414	-0.140000	0.14226	GAC		PASS	0.333	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		19	50	19	50	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151171201	151171201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:151171201C>T	ENST00000282466.3	-	3	685	c.686G>A	c.(685-687)tGg>tAg	p.W229*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	229	LRRCT.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.W229*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCAGACAACCACTTTAAATG	0.433																																						uc011bod.1																			1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(685-687)TGG>TAG		immunoglobulin superfamily, member 10 precursor							94.0	95.0	94.0					3																	151171201		2203	4300	6503	SO:0001587	stop_gained	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151171201C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.686G>A	3.37:g.151171201C>T	ENSP00000282466:p.Trp229*						p.W229*	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	686	-			229			LRRCT.		Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	ENST00000282466.3	37	c.686G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	36	5.933321	0.97116	.	.	ENSG00000152580	ENST00000282466	.	.	.	5.1	5.1	0.69264	.	0.000000	0.43416	D	0.000568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5139	0.90928	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	ENSP00000282466:W229X	W	-	2	0	IGSF10	152653891	1.000000	0.71417	0.987000	0.45799	0.951000	0.60555	5.784000	0.68990	2.379000	0.81126	0.650000	0.86243	TGG		PASS	0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		14	62	14	62	---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154147144	154147144	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:154147144G>T	ENST00000389740.2	-	1	360	c.261C>A	c.(259-261)atC>atA	p.I87I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	87					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I87I(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAAACATGAAGATGGTCACCG	0.488																																						uc003faa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(259-261)ATC>ATA		G protein-coupled receptor 149							94.0	98.0	97.0					3																	154147144		2052	4202	6254	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154147144G>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.261C>A	3.37:g.154147144G>T							p.I87I	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	361	-			87			Helical; Name=2; (Potential).			Silent	SNP	ENST00000389740.2	37	c.261C>A	CCDS43162.1																																																																																				PASS	0.488	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		14	87	14	87	---	---	---	---
MLF1	4291	broad.mit.edu	37	3	158317862	158317862	+	Silent	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:158317862T>A	ENST00000355893.5	+	5	606	c.468T>A	c.(466-468)atT>atA	p.I156I	MLF1_ENST00000478894.2_Silent_p.I146I|MLF1_ENST00000359117.5_Silent_p.I131I|MLF1_ENST00000482628.1_Silent_p.I131I|MLF1_ENST00000471745.1_Silent_p.I146I|MLF1_ENST00000392822.3_Silent_p.I187I|MLF1_ENST00000469452.1_Silent_p.I88I|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Silent_p.I131I	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	156					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)	p.I187I(1)|p.I156I(1)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			AAATGGCTATTGGTCATCATA	0.318			T	NPM1	AML																																	uc003fcb.2				Dom	yes		3	3q25.1	4291	T	myeloid leukemia factor 1			L	NPM1		AML		2	Substitution - coding silent(2)		lung(2)		0						c.(466-468)ATT>ATA		myeloid leukemia factor 1 isoform 1							81.0	90.0	87.0					3																	158317862		2203	4300	6503	SO:0001819	synonymous_variant	4291				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	g.chr3:158317862T>A	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.468T>A	3.37:g.158317862T>A						MLF1_uc003fbz.2_Silent_p.I131I|MLF1_uc003fca.2_Silent_p.I131I|MLF1_uc003fbx.2_Silent_p.I146I|MLF1_uc003fcc.2_Silent_p.I187I|MLF1_uc003fby.2_Silent_p.I82I|MLF1_uc010hvx.2_Silent_p.I88I	p.I156I	NM_022443	NP_071888	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		5	605	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	156					E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Silent	SNP	ENST00000355893.5	37	c.468T>A	CCDS3182.1																																																																																				PASS	0.318	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		21	56	21	56	---	---	---	---
SI	6476	broad.mit.edu	37	3	164712057	164712057	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:164712057G>T	ENST00000264382.3	-	41	4891	c.4829C>A	c.(4828-4830)cCc>cAc	p.P1610H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1610	Sucrase.				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.P1610H(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)	ATGCAAAAGGGGTCGGATAAC	0.318										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4828-4830)CCC>CAC		sucrase-isomaltase	Acarbose(DB00284)						97.0	94.0	95.0					3																	164712057		2203	4300	6503	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.chr3:164712057G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4829C>A	3.37:g.164712057G>T	ENSP00000264382:p.Pro1610His	HNSCC(35;0.089)					p.P1610H	NM_001041	NP_001032	P14410	SUIS_HUMAN			41	4891	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1610			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4829C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515918	0.85495	.	.	ENSG00000090402	ENST00000264382	D	0.95103	-3.61	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99239	1.0884	10	0.87932	D	0	.	18.9473	0.92626	0.0:0.0:1.0:0.0	.	1610	P14410	SUIS_HUMAN	H	1610	ENSP00000264382:P1610H	ENSP00000264382:P1610H	P	-	2	0	SI	166194751	1.000000	0.71417	0.970000	0.41538	0.963000	0.63663	9.314000	0.96306	2.876000	0.98609	0.644000	0.83932	CCC		PASS	0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	39	8	39	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169485440	169485440	+	Nonsense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:169485440G>C	ENST00000330368.2	-	2	1273	c.899C>G	c.(898-900)tCa>tGa	p.S300*	RP11-816J6.3_ENST00000602879.1_RNA|TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	300						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.S300*(1)									GAAAGAGGTTGATCCCCCGGC	0.463																																						uc003ffs.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(898-900)TCA>TGA		actin related protein M1							116.0	130.0	125.0					3																	169485440		2203	4300	6503	SO:0001587	stop_gained	84517					cytoplasm|cytoskeleton		g.chr3:169485440G>C	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.899C>G	3.37:g.169485440G>C	ENSP00000333037:p.Ser300*					TERC_uc003ffr.1_5'Flank	p.S300*	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		2	1274	-	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		300					Q96IS0|Q96NJ0	Nonsense_Mutation	SNP	ENST00000330368.2	37	c.899C>G	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	G	40	7.954887	0.98580	.	.	ENSG00000184378	ENST00000330368	.	.	.	5.25	5.25	0.73442	.	0.000000	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7713	0.88493	0.0:0.0:1.0:0.0	.	.	.	.	X	300	.	ENSP00000333037:S300X	S	-	2	0	AC078802.1	170968134	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	6.280000	0.72626	2.744000	0.94065	0.561000	0.74099	TCA		PASS	0.463	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		30	133	30	133	---	---	---	---
TBL1XR1	79718	broad.mit.edu	37	3	176769497	176769497	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:176769497A>G	ENST00000430069.1	-	5	481	c.222T>C	c.(220-222)gaT>gaC	p.D74D	TBL1XR1_ENST00000457928.2_Silent_p.D74D			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	74	F-box-like.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.D74D(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTGGTCGACCATCAAACAAGG	0.358																																						uc003fiw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(220-222)GAT>GAC		transducin (beta)-like 1 X-linked receptor 1							43.0	38.0	40.0					3																	176769497		1860	4100	5960	SO:0001819	synonymous_variant	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176769497A>G	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.222T>C	3.37:g.176769497A>G						TBL1XR1_uc003fix.3_Silent_p.D74D|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Silent_p.D74D	p.D74D	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		5	482	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	74			F-box-like.		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Silent	SNP	ENST00000430069.1	37	c.222T>C	CCDS46961.1																																																																																				PASS	0.358	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		7	42	7	42	---	---	---	---
GNB4	59345	broad.mit.edu	37	3	179131506	179131506	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:179131506G>A	ENST00000232564.3	-	7	780	c.494C>T	c.(493-495)aCt>aTt	p.T165I	GNB4_ENST00000465153.1_5'UTR|GNB4_ENST00000468623.1_Missense_Mutation_p.T165I	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	165					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.T165I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			AACTTACCAAGTTGTATCTCC	0.358																																					Melanoma(105;1405 1491 7265 20440 33721)	uc003fjv.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(493-495)ACT>ATT		guanine nucleotide-binding protein, beta-4							103.0	102.0	102.0					3																	179131506		2203	4300	6503	SO:0001583	missense	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179131506G>A	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.494C>T	3.37:g.179131506G>A	ENSP00000232564:p.Thr165Ile					GNB4_uc003fju.3_Missense_Mutation_p.T76I	p.T165I	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		7	774	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		165			WD 3.		B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	c.494C>T	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625260	0.87560	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.69306	-0.39;-0.39	5.66	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.086502	0.85682	D	0.000000	T	0.82130	0.4970	M	0.81942	2.565	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.72338	0.975;0.977	D	0.85102	0.0958	10	0.87932	D	0	.	15.601	0.76626	0.0:0.0:0.8489:0.1511	.	165;165	Q9HAV0;A8K3F6	GBB4_HUMAN;.	I	165	ENSP00000232564:T165I;ENSP00000419693:T165I	ENSP00000232564:T165I	T	-	2	0	GNB4	180614200	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.556000	0.73932	1.314000	0.45095	0.650000	0.86243	ACT		PASS	0.358	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		9	42	9	42	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180377513	180377513	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:180377513C>G	ENST00000442201.2	-	5	680	c.561G>C	c.(559-561)caG>caC	p.Q187H	CCDC39_ENST00000273654.4_Missense_Mutation_p.Q271H	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	187					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.Q187H(1)|p.Q271H(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTTCTTTTCTGATTACATT	0.289																																						uc010hxe.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(559-561)CAG>CAC		coiled-coil domain containing 39							157.0	149.0	152.0					3																	180377513		1820	4076	5896	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180377513C>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.561G>C	3.37:g.180377513C>G	ENSP00000405708:p.Gln187His					CCDC39_uc003fkn.2_RNA	p.Q187H	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		5	676	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		187			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.561G>C	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268204	0.23136	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.22945	1.93;1.93	5.74	3.92	0.45320	.	0.289292	0.39834	N	0.001260	T	0.34803	0.0910	L	0.43152	1.355	0.33887	D	0.636833	D	0.59357	0.985	P	0.54401	0.751	T	0.51309	-0.8722	10	0.59425	D	0.04	-7.5428	13.7822	0.63089	0.0:0.8129:0.0:0.1871	.	187	Q9UFE4	CCD39_HUMAN	H	271;187	ENSP00000273654:Q271H;ENSP00000405708:Q187H	ENSP00000273654:Q271H	Q	-	3	2	CCDC39	181860207	1.000000	0.71417	0.952000	0.39060	0.012000	0.07955	0.749000	0.26320	0.790000	0.33803	-1.626000	0.00786	CAG		PASS	0.289	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		11	44	11	44	---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180685922	180685922	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:180685922G>A	ENST00000357559.4	+	14	1666	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	FXR1_ENST00000480918.1_Missense_Mutation_p.D415N|FXR1_ENST00000491062.1_Missense_Mutation_p.D379N|FXR1_ENST00000445140.2_Missense_Mutation_p.D428N|FXR1_ENST00000468861.1_Missense_Mutation_p.D343N|FXR1_ENST00000305586.7_Missense_Mutation_p.D343N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	428					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D428N(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGCAGGAGAAGATGATCGAGA	0.527																																						uc003fkq.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1282-1284)GAT>AAT		fragile X mental retardation-related protein 1							112.0	105.0	108.0					3																	180685922		2203	4300	6503	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180685922G>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1282G>A	3.37:g.180685922G>A	ENSP00000350170:p.Asp428Asn					FXR1_uc003fkp.2_Missense_Mutation_p.D343N|FXR1_uc003fkr.2_Missense_Mutation_p.D428N|FXR1_uc011bqj.1_Missense_Mutation_p.D342N|FXR1_uc003fks.2_Missense_Mutation_p.D371N|FXR1_uc011bqk.1_Missense_Mutation_p.D379N|FXR1_uc011bql.1_Missense_Mutation_p.D415N	p.D428N	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		14	1304	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		428					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.1282G>A	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635568	0.96682	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.51	5.51	0.81932	.	0.325354	0.36268	N	0.002692	T	0.53384	0.1793	L	0.38838	1.175	0.58432	D	0.999993	P;D;P;D;D;D	0.89917	0.916;0.985;0.673;1.0;0.99;0.997	P;D;B;D;P;D	0.91635	0.57;0.931;0.253;0.999;0.851;0.989	T	0.52056	-0.8626	10	0.59425	D	0.04	-9.233	19.7945	0.96474	0.0:0.0:1.0:0.0	.	415;379;343;372;428;428	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	N	428;343;379;343;428;415	ENSP00000350170:D428N;ENSP00000307633:D343N;ENSP00000420643:D379N;ENSP00000420515:D343N;ENSP00000388828:D428N;ENSP00000418097:D415N	ENSP00000307633:D343N	D	+	1	0	FXR1	182168616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.499000	0.90494	2.746000	0.94184	0.591000	0.81541	GAT		PASS	0.527	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			7	53	7	53	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183907720	183907720	+	Splice_Site	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:183907720G>A	ENST00000429586.2	+	14	1576		c.e14+1		EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Splice_Site	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3						defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGAGAAGCTGTGAGTACAGC	0.547																																						uc003fmz.2																			1	Unknown(1)		lung(1)	ovary(3)|lung(1)	4						c.e14+1		ATP-binding cassette, sub-family F (GCN20),							106.0	93.0	98.0					3																	183907720		2203	4300	6503	SO:0001630	splice_region_variant	55324						ATP binding|ATPase activity	g.chr3:183907720G>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1391+1G>A	3.37:g.183907720G>A						ABCF3_uc003fna.2_Splice_Site_p.L458_splice|ABCF3_uc003fnb.2_Splice_Site_p.L145_splice	p.L464_splice	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		14	1524	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)							A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Splice_Site	SNP	ENST00000429586.2	37	c.1391_splice	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749602	0.69533	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9334	0.86197	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCF3	185390414	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.476000	0.97823	2.231000	0.72958	0.563000	0.77884	.		PASS	0.547	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358	Intron	13	37	13	37	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184040983	184040983	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:184040983G>A	ENST00000346169.2	+	14	2313	c.2042G>A	c.(2041-2043)cGt>cAt	p.R681H	EIF4G1_ENST00000350481.5_Missense_Mutation_p.R517H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R594H|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R681H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R517H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R641H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R594H|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R485H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R688H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R681H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R688H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R688H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R641H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R485H	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	681	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.	Cleavage; by enterovirus/rhinovirus protease 2A.			cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R681H(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTTAGCACCCGTGGGCCCCCA	0.627																																						uc003fnp.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2041-2043)CGT>CAT		eukaryotic translation initiation factor 4							79.0	89.0	86.0					3																	184040983		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184040983G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2042G>A	3.37:g.184040983G>A	ENSP00000316879:p.Arg681His					EIF4G1_uc003fno.1_Missense_Mutation_p.R622H|EIF4G1_uc010hxw.1_Missense_Mutation_p.R517H|EIF4G1_uc003fnt.2_Missense_Mutation_p.R392H|EIF4G1_uc003fnq.2_Missense_Mutation_p.R594H|EIF4G1_uc003fnr.2_Missense_Mutation_p.R517H|EIF4G1_uc010hxx.2_Missense_Mutation_p.R688H|EIF4G1_uc003fns.2_Missense_Mutation_p.R641H|EIF4G1_uc010hxy.2_Missense_Mutation_p.R688H|EIF4G1_uc003fnv.3_Missense_Mutation_p.R681H|EIF4G1_uc003fnu.3_Missense_Mutation_p.R681H|EIF4G1_uc003fnw.2_Missense_Mutation_p.R688H|EIF4G1_uc003fnx.2_Missense_Mutation_p.R485H|EIF4G1_uc003fny.3_Missense_Mutation_p.R485H|SNORD66_uc003fnz.2_5'Flank	p.R681H	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		14	2240	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		681			MIF4G.	Cleavage; by enterovirus/rhinovirus protease 2A.	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2042G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338376	0.60963	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.16	5.16	0.70880	.	0.144121	0.50627	D	0.000101	T	0.67998	0.2953	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71184	0.943;0.972;0.972;0.943	T	0.63651	-0.6589	10	0.33141	T	0.24	-6.2255	18.8434	0.92194	0.0:0.0:1.0:0.0	.	688;681;681;688	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	H	681;641;594;681;688;688;622;517;688;594;681;681;688;641;517;517;485;485	ENSP00000316879:R681H;ENSP00000391935:R641H;ENSP00000376320:R594H;ENSP00000391412:R681H;ENSP00000413159:R688H;ENSP00000371767:R688H;ENSP00000403269:R622H;ENSP00000317600:R517H;ENSP00000338020:R688H;ENSP00000407682:R594H;ENSP00000343450:R681H;ENSP00000323737:R681H;ENSP00000416255:R688H;ENSP00000395974:R641H;ENSP00000398145:R517H;ENSP00000399858:R517H;ENSP00000411826:R485H;ENSP00000404754:R485H	ENSP00000323737:R681H	R	+	2	0	EIF4G1	185523677	1.000000	0.71417	0.985000	0.45067	0.595000	0.36748	4.817000	0.62650	2.678000	0.91216	0.563000	0.77884	CGT		PASS	0.627	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		18	88	18	88	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184041675	184041675	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:184041675C>G	ENST00000346169.2	+	16	2653	c.2382C>G	c.(2380-2382)ctC>ctG	p.L794L	EIF4G1_ENST00000350481.5_Silent_p.L630L|EIF4G1_ENST00000427845.1_Silent_p.L708L|EIF4G1_ENST00000342981.4_Silent_p.L795L|EIF4G1_ENST00000441154.1_Silent_p.L631L|EIF4G1_ENST00000414031.1_Silent_p.L754L|EIF4G1_ENST00000392537.2_Silent_p.L707L|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000435046.2_Silent_p.L598L|EIF4G1_ENST00000382330.3_Silent_p.L801L|EIF4G1_ENST00000319274.6_Silent_p.L794L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Silent_p.L801L|EIF4G1_ENST00000424196.1_Silent_p.L801L|EIF4G1_ENST00000411531.1_Silent_p.L755L|EIF4G1_ENST00000434061.2_Silent_p.L599L	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	794	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L794L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAACGCCTCAAAGGGGTCA	0.547																																						uc003fnp.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2380-2382)CTC>CTG		eukaryotic translation initiation factor 4							99.0	94.0	96.0					3																	184041675		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184041675C>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2382C>G	3.37:g.184041675C>G						EIF4G1_uc003fno.1_Silent_p.L735L|EIF4G1_uc010hxw.1_Silent_p.L630L|EIF4G1_uc003fnt.2_Silent_p.L505L|EIF4G1_uc003fnq.2_Silent_p.L707L|EIF4G1_uc003fnr.2_Silent_p.L630L|EIF4G1_uc010hxx.2_Silent_p.L801L|EIF4G1_uc003fns.2_Silent_p.L754L|EIF4G1_uc010hxy.2_Silent_p.L801L|EIF4G1_uc003fnv.3_Silent_p.L795L|EIF4G1_uc003fnu.3_Silent_p.L794L|EIF4G1_uc003fnw.2_Silent_p.L801L|EIF4G1_uc003fnx.2_Silent_p.L599L|EIF4G1_uc003fny.3_Silent_p.L598L|SNORD66_uc003fnz.2_5'Flank	p.L794L	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2580	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		794			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.2382C>G	CCDS3259.1																																																																																				PASS	0.547	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		5	84	5	84	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184042714	184042714	+	Missense_Mutation	SNP	A	A	G	rs373331022		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:184042714A>G	ENST00000346169.2	+	18	2939	c.2668A>G	c.(2668-2670)Ata>Gta	p.I890V	EIF4G1_ENST00000350481.5_Missense_Mutation_p.I726V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.I804V|EIF4G1_ENST00000342981.4_Missense_Mutation_p.I891V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I727V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I850V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I803V|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000435046.2_Missense_Mutation_p.I694V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I897V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I890V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I897V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.I897V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I851V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I695V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	890	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.I890V(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCTCGGGACATAGCCCGGCG	0.493																																						uc003fnp.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2668-2670)ATA>GTA		eukaryotic translation initiation factor 4		A	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	63.0	74.0	70.0		2689,2689,2083,2671,2668,2176,2407	4.5	1.0	3		70	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	29,29,29,29,29,29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	897/1607,897/1607,695/1405,891/1601,890/1600,726/1436,803/1513	184042714	1,13005	2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184042714A>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2668A>G	3.37:g.184042714A>G	ENSP00000316879:p.Ile890Val					EIF4G1_uc003fno.1_Missense_Mutation_p.I831V|EIF4G1_uc010hxw.1_Missense_Mutation_p.I726V|EIF4G1_uc003fnt.2_Missense_Mutation_p.I601V|EIF4G1_uc003fnq.2_Missense_Mutation_p.I803V|EIF4G1_uc003fnr.2_Missense_Mutation_p.I726V|EIF4G1_uc010hxx.2_Missense_Mutation_p.I897V|EIF4G1_uc003fns.2_Missense_Mutation_p.I850V|EIF4G1_uc010hxy.2_Missense_Mutation_p.I897V|EIF4G1_uc003fnv.3_Missense_Mutation_p.I891V|EIF4G1_uc003fnu.3_Missense_Mutation_p.I890V|EIF4G1_uc003fnw.2_Missense_Mutation_p.I897V|EIF4G1_uc003fnx.2_Missense_Mutation_p.I695V|EIF4G1_uc003fny.3_Missense_Mutation_p.I694V|SNORD66_uc003fnz.2_5'Flank	p.I890V	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	2866	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		890			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2668A>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490416	0.44249	2.27E-4	0.0	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.65	4.48	0.54585	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.262588	0.39146	N	0.001450	T	0.17238	0.0414	L	0.41573	1.285	0.28082	N	0.93216	B;B;B;B	0.16603	0.018;0.004;0.002;0.004	B;B;B;B	0.23275	0.045;0.045;0.012;0.045	T	0.11470	-1.0586	10	0.18276	T	0.48	-4.2668	11.8719	0.52525	0.9306:0.0:0.0694:0.0	.	897;891;890;897	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	V	890;850;803;897;831;726;897;804;891;890;897;851;726;727;695;694	ENSP00000316879:I890V;ENSP00000391935:I850V;ENSP00000376320:I803V;ENSP00000371767:I897V;ENSP00000403269:I831V;ENSP00000317600:I726V;ENSP00000338020:I897V;ENSP00000407682:I804V;ENSP00000343450:I891V;ENSP00000323737:I890V;ENSP00000416255:I897V;ENSP00000395974:I851V;ENSP00000398145:I726V;ENSP00000399858:I727V;ENSP00000411826:I695V;ENSP00000404754:I694V	ENSP00000323737:I890V	I	+	1	0	EIF4G1	185525408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.985000	0.56930	2.163000	0.67991	0.459000	0.35465	ATA		PASS	0.493	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		12	62	12	62	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184294689	184294689	+	Missense_Mutation	SNP	G	G	A	rs201322151		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:184294689G>A	ENST00000330394.2	+	5	1524	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	358	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.E358K(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACTGATCCTCGAGTGGAGTGA	0.597																																						uc003foz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1072-1074)GAG>AAG		ephrin receptor EphB3 precursor							98.0	95.0	96.0					3																	184294689		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294689G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1072G>A	3.37:g.184294689G>A	ENSP00000332118:p.Glu358Lys						p.E358K	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1509	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		358			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1072G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978850	0.92982	.	.	ENSG00000182580	ENST00000330394	T	0.57436	0.4	5.17	4.29	0.51040	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81335	-0.0979	10	0.87932	D	0	.	12.8384	0.57786	0.0796:0.0:0.9204:0.0	.	358	P54753	EPHB3_HUMAN	K	358	ENSP00000332118:E358K	ENSP00000332118:E358K	E	+	1	0	EPHB3	185777383	1.000000	0.71417	0.921000	0.36526	0.950000	0.60333	7.908000	0.87438	1.298000	0.44778	0.448000	0.29417	GAG		PASS	0.597	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		13	78	13	78	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186940980	186940980	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:186940980C>T	ENST00000337774.5	-	14	2133	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	582	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.A582T(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ATGACCATGGCTCCTGGAGGA	0.522																																						uc003frh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|liver(1)	4						c.(1744-1746)GCC>ACC		mannan-binding lectin serine protease 1 isoform							76.0	73.0	74.0					3																	186940980		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186940980C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1744G>A	3.37:g.186940980C>T	ENSP00000336792:p.Ala582Thr						p.A582T	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	14	2076	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		582			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1744G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	6.107	0.387984	0.11581	.	.	ENSG00000127241	ENST00000337774	D	0.87571	-2.27	5.88	-5.89	0.02282	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.56247	0.1972	N	0.01086	-1.025	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.56780	-0.7922	9	0.09338	T	0.73	.	4.8373	0.13471	0.3067:0.2528:0.0:0.4405	.	582	P48740	MASP1_HUMAN	T	582	ENSP00000336792:A582T	ENSP00000336792:A582T	A	-	1	0	MASP1	188423674	0.008000	0.16893	0.385000	0.26158	0.688000	0.40055	-0.504000	0.06375	-0.581000	0.05937	0.655000	0.94253	GCC		PASS	0.522	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		15	29	15	29	---	---	---	---
SST	6750	broad.mit.edu	37	3	187386958	187386958	+	Missense_Mutation	SNP	C	C	T	rs201328656		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:187386958C>T	ENST00000287641.3	-	2	353	c.246G>A	c.(244-246)atG>atA	p.M82I		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	82					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)	p.M82I(1)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GCTCAAGCCTCATTTCATCCT	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15610	0.0		0.0	False		,,,				2504	0.0					uc003frn.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(244-246)ATG>ATA		somatostatin preproprotein	Bromocriptine(DB01200)|Cysteamine(DB00847)						269.0	251.0	257.0					3																	187386958		2203	4300	6503	SO:0001583	missense	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386958C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.246G>A	3.37:g.187386958C>T	ENSP00000287641:p.Met82Ile						p.M82I	NM_001048	NP_001039	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	368	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		82					B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	c.246G>A	CCDS3288.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.01	2.407170	0.42715	.	.	ENSG00000157005	ENST00000287641	T	0.28666	1.6	5.51	5.51	0.81932	.	0.087283	0.85682	D	0.000000	T	0.24353	0.0590	L	0.36672	1.1	0.42839	D	0.994047	B	0.02656	0.0	B	0.04013	0.001	T	0.04165	-1.0972	10	0.30078	T	0.28	0.033	11.812	0.52188	0.0:0.9204:0.0:0.0796	.	82	P61278	SMS_HUMAN	I	82	ENSP00000287641:M82I	ENSP00000287641:M82I	M	-	3	0	SST	188869652	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.986000	0.40677	2.587000	0.87381	0.305000	0.20034	ATG		PASS	0.522	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		75	201	75	201	---	---	---	---
CPN2	1370	broad.mit.edu	37	3	194062502	194062502	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:194062502G>T	ENST00000323830.3	-	2	1019	c.930C>A	c.(928-930)gcC>gcA	p.A310A	CPN2_ENST00000429275.1_Silent_p.A310A	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	310					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.A310A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGGACAGGTGGGCAAAGGTGC	0.592																																						uc003fts.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(928-930)GCC>GCA		carboxypeptidase N, polypeptide 2							51.0	46.0	48.0					3																	194062502		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062502G>T	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.930C>A	3.37:g.194062502G>T							p.A310A	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1020	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		310			LRR 9.		B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.930C>A	CCDS33920.1																																																																																				PASS	0.592	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		11	33	11	33	---	---	---	---
LSG1	55341	broad.mit.edu	37	3	194373677	194373677	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:194373677C>A	ENST00000265245.5	-	8	1268	c.954G>T	c.(952-954)tgG>tgT	p.W318C		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	318	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.W318C(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AGCACGTCTGCCAGTCGTCTT	0.527																																						uc003fui.2																			1	Substitution - Missense(1)		lung(1)		0						c.(952-954)TGG>TGT		large subunit GTPase 1							140.0	132.0	135.0					3																	194373677		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194373677C>A		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.954G>T	3.37:g.194373677C>A	ENSP00000265245:p.Trp318Cys						p.W318C	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	8	1269	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		318					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.954G>T	CCDS33922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.89|13.89	2.370983|2.370983	0.42003|0.42003	.|.	.|.	ENSG00000041802|ENSG00000041802	ENST00000437613|ENST00000265245	.|T	.|0.14022	.|2.54	5.99|5.99	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15998|0.15998	0.0385|0.0385	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|B	.|0.24768	.|0.111	.|B	.|0.23852	.|0.049	T|T	0.01904|0.01904	-1.1250|-1.1250	5|10	.|0.38643	.|T	.|0.18	.|.	15.4454|15.4454	0.75225|0.75225	0.1399:0.8601:0.0:0.0|0.1399:0.8601:0.0:0.0	.|.	.|318	.|Q9H089	.|LSG1_HUMAN	V|C	52|318	.|ENSP00000265245:W318C	.|ENSP00000265245:W318C	G|W	-|-	2|3	0|0	LSG1|LSG1	195854966|195854966	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.025000|0.025000	0.11179|0.11179	6.750000|6.750000	0.74888|0.74888	1.528000|1.528000	0.49103|0.49103	-0.169000|-0.169000	0.13324|0.13324	GGC|TGG		PASS	0.527	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		25	66	25	66	---	---	---	---
BDH1	622	broad.mit.edu	37	3	197239159	197239159	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:197239159G>T	ENST00000392378.2	-	7	949	c.639C>A	c.(637-639)ttC>ttA	p.F213L	BDH1_ENST00000392379.1_Missense_Mutation_p.F213L|BDH1_ENST00000358186.2_Missense_Mutation_p.F213L|BDH1_ENST00000441275.1_Missense_Mutation_p.F126L	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	213					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)	p.F213L(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		CCTCTACCCCGAACTTGGTGA	0.632																																						uc003fxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)TTC>TTA		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						42.0	43.0	42.0					3																	197239159		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197239159G>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.639C>A	3.37:g.197239159G>T	ENSP00000376183:p.Phe213Leu					BDH1_uc003fxs.2_Missense_Mutation_p.F213L|BDH1_uc003fxt.2_Missense_Mutation_p.F126L|BDH1_uc003fxu.2_Missense_Mutation_p.F213L	p.F213L	NM_203314	NP_976059	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	8	1041	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	213					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.639C>A	CCDS3328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.05|13.05	2.120246|2.120246	0.37436|0.37436	.|.	.|.	ENSG00000161267|ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746|ENST00000455876	D;D;D;D;D|.	0.87491|.	-2.26;-2.26;-2.26;-2.26;-2.26|.	5.3|5.3	-1.74|-1.74	0.08056|0.08056	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);|.	0.102733|.	0.64402|.	D|.	0.000002|.	T|.	0.74574|.	0.3734|.	M|M	0.86805|0.86805	2.84|2.84	0.47819|0.47819	D|D	0.999525|0.999525	P|.	0.37594|.	0.601|.	P|.	0.44597|.	0.454|.	T|.	0.73646|.	-0.3917|.	10|.	0.51188|.	T|.	0.08|.	.|.	12.5781|12.5781	0.56375|0.56375	0.4931:0.0:0.5069:0.0|0.4931:0.0:0.5069:0.0	.|.	213|.	Q02338|.	BDH_HUMAN|.	L|X	213;213;213;126;126|107	ENSP00000376183:F213L;ENSP00000350914:F213L;ENSP00000376184:F213L;ENSP00000411014:F126L;ENSP00000387648:F126L|.	ENSP00000350914:F213L|.	F|S	-|-	3|2	2|0	BDH1|BDH1	198723556|198723556	0.771000|0.771000	0.28555|0.28555	0.871000|0.871000	0.34182|0.34182	0.415000|0.415000	0.31203|0.31203	-0.021000|-0.021000	0.12504|0.12504	-0.973000|-0.973000	0.03555|0.03555	-0.797000|-0.797000	0.03246|0.03246	TTC|TCG		PASS	0.632	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		15	22	15	22	---	---	---	---
LMLN	89782	broad.mit.edu	37	3	197707242	197707242	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr3:197707242G>T	ENST00000330198.4	+	6	617	c.595G>T	c.(595-597)Ggt>Tgt	p.G199C	LMLN_ENST00000420910.2_Missense_Mutation_p.G199C|LMLN_ENST00000482695.1_Missense_Mutation_p.G147C|LMLN_ENST00000332636.5_Missense_Mutation_p.G147C	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	199					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.G199C(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TGGAGCAGTGGGTGTGCCAGA	0.527																																						uc011buo.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(595-597)GGT>TGT		leishmanolysin-like isoform 2							143.0	135.0	138.0					3																	197707242		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197707242G>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.595G>T	3.37:g.197707242G>T	ENSP00000328829:p.Gly199Cys					LMLN_uc003fyt.2_Missense_Mutation_p.G147C|LMLN_uc010iar.2_Missense_Mutation_p.G199C|LMLN_uc010ias.2_Missense_Mutation_p.G147C|LMLN_uc003fyu.2_5'UTR	p.G199C	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	6	617	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	199					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.595G>T	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620061	0.87460	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.49139	0.81;0.8;0.8;0.79;0.81	4.72	4.72	0.59763	.	0.175883	0.49916	D	0.000134	T	0.57489	0.2057	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;0.992;1.0;0.996	D;P;D;P	0.70935	0.95;0.896;0.971;0.882	T	0.60556	-0.7240	10	0.72032	D	0.01	-12.9754	15.6129	0.76740	0.0:0.0:1.0:0.0	.	199;147;199;147	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	C	147;199;127;199;147	ENSP00000418324:G147C;ENSP00000328829:G199C;ENSP00000390872:G127C;ENSP00000410926:G199C;ENSP00000328611:G147C	ENSP00000328829:G199C	G	+	1	0	LMLN	199191639	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.919000	0.75793	2.635000	0.89317	0.650000	0.86243	GGT		PASS	0.527	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		27	71	27	71	---	---	---	---
CTBP1	1487	broad.mit.edu	37	4	1207352	1207352	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:1207352C>A	ENST00000290921.6	-	7	1116	c.935G>T	c.(934-936)tGc>tTc	p.C312F	CTBP1_ENST00000382952.3_Missense_Mutation_p.C301F	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	312	Interaction with GLIS2 2. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.C312F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		ATGGGGGGTGCAGATGAGGTT	0.642																																						uc003gcv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(934-936)TGC>TTC		C-terminal binding protein 1 isoform 1							85.0	71.0	75.0					4																	1207352		2203	4300	6503	SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1207352C>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.935G>T	4.37:g.1207352C>A	ENSP00000290921:p.Cys312Phe					uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.C293F|CTBP1_uc003gcu.1_Missense_Mutation_p.C301F|CTBP1_uc003gcw.2_5'UTR	p.C312F	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	7	1100	-			312			Interaction with GLIS2 2 (By similarity).		Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	c.935G>T	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764354	0.69878	.	.	ENSG00000159692	ENST00000382952;ENST00000290921	T;T	0.79653	-1.29;-1.29	4.44	4.44	0.53790	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.78966	0.4367	N	0.05574	-0.02	0.80722	D	1	D;D	0.65815	0.995;0.995	D;P	0.64506	0.926;0.901	T	0.83168	-0.0095	10	0.48119	T	0.1	-24.0451	17.0741	0.86581	0.0:1.0:0.0:0.0	.	312;301	Q13363;Q7Z2Q5	CTBP1_HUMAN;.	F	301;312	ENSP00000372411:C301F;ENSP00000290921:C312F	ENSP00000290921:C312F	C	-	2	0	CTBP1	1197352	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	7.072000	0.76777	2.023000	0.59567	0.561000	0.74099	TGC		PASS	0.642	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		14	19	14	19	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4199533	4199533	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:4199533C>A	ENST00000296358.4	-	5	1052	c.1028G>T	c.(1027-1029)aGc>aTc	p.S343I		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	343					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.S343I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCGACTCGCTCTTGGTCTT	0.587																																						uc003ghp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1027-1029)AGC>ATC		otopetrin 1							50.0	49.0	49.0					4																	4199533		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199533C>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1028G>T	4.37:g.4199533C>A	ENSP00000296358:p.Ser343Ile						p.S343I	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1058	-			343					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1028G>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141368	0.37825	.	.	ENSG00000163982	ENST00000296358	T	0.25414	1.8	4.8	4.8	0.61643	.	0.046856	0.85682	D	0.000000	T	0.47728	0.1461	L	0.55103	1.725	0.42341	D	0.992332	D	0.76494	0.999	D	0.72982	0.979	T	0.49485	-0.8935	10	0.66056	D	0.02	-6.5638	18.2431	0.89974	0.0:1.0:0.0:0.0	.	343	Q7RTM1	OTOP1_HUMAN	I	343	ENSP00000296358:S343I	ENSP00000296358:S343I	S	-	2	0	OTOP1	4250434	0.997000	0.39634	1.000000	0.80357	0.168000	0.22595	3.578000	0.53892	2.387000	0.81309	0.404000	0.27445	AGC		PASS	0.587	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		14	33	14	33	---	---	---	---
KIAA0232	9778	broad.mit.edu	37	4	6862821	6862821	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:6862821G>C	ENST00000307659.5	+	7	1167	c.712G>C	c.(712-714)Gaa>Caa	p.E238Q	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E238Q	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	238							ATP binding (GO:0005524)	p.E238Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAGAAGCAGTGAAGTACCCAC	0.438																																						uc003gjr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(712-714)GAA>CAA		hypothetical protein LOC9778							104.0	104.0	104.0					4																	6862821		1967	4174	6141	SO:0001583	missense	9778						ATP binding	g.chr4:6862821G>C	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.712G>C	4.37:g.6862821G>C	ENSP00000303928:p.Glu238Gln					KIAA0232_uc003gjq.3_Missense_Mutation_p.E238Q	p.E238Q	NM_014743	NP_055558	Q92628	K0232_HUMAN			7	1175	+			238					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.712G>C	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	5.826	0.336626	0.11013	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.0	4.14	0.48551	.	0.787672	0.12152	N	0.494805	T	0.30634	0.0771	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26780	-1.0093	9	0.15499	T	0.54	0.0866	7.1003	0.25333	0.1204:0.1723:0.7073:0.0	.	238	Q92628	K0232_HUMAN	Q	238	.	ENSP00000303928:E238Q	E	+	1	0	KIAA0232	6913722	0.304000	0.24472	0.001000	0.08648	0.849000	0.48306	3.277000	0.51654	1.074000	0.40909	0.561000	0.74099	GAA		PASS	0.438	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		26	88	26	88	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8609035	8609035	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:8609035C>A	ENST00000360986.4	+	7	1284	c.1110C>A	c.(1108-1110)acC>acA	p.T370T	CPZ_ENST00000382480.2_Silent_p.T233T|CPZ_ENST00000315782.6_Silent_p.T359T|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	370					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.T370T(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGATGCAGACCATACCCTTTG	0.612											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003glm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1108-1110)ACC>ACA		carboxypeptidase Z isoform 1							156.0	139.0	145.0					4																	8609035		2203	4300	6503	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8609035C>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1110C>A	4.37:g.8609035C>A			OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	650	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.T233T|CPZ_uc003glo.2_Silent_p.T359T|CPZ_uc003glp.2_RNA	p.T370T	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			7	1236	+			370					O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.1110C>A	CCDS33953.1																																																																																				PASS	0.612	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		23	42	23	42	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13602546	13602546	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:13602546T>A	ENST00000040738.5	-	10	6113	c.5978A>T	c.(5977-5979)aAa>aTa	p.K1993I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1993						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1993I(1)									ATCTTCAACTTTTTCGAGCTG	0.478																																						uc003gmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(5977-5979)AAA>ATA		biorientation of chromosomes in cell division							113.0	107.0	109.0					4																	13602546		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13602546T>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5978A>T	4.37:g.13602546T>A	ENSP00000040738:p.Lys1993Ile					BOD1L_uc010idr.1_Missense_Mutation_p.K1330I	p.K1993I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	6095	-			1993					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5978A>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660925	0.29515	.	.	ENSG00000038219	ENST00000040738	T	0.09350	2.99	5.35	2.83	0.33086	.	0.390991	0.24412	N	0.038746	T	0.09423	0.0232	L	0.29908	0.895	0.19300	N	0.999977	P	0.44877	0.845	B	0.44278	0.445	T	0.13818	-1.0495	10	0.87932	D	0	-4.9542	6.6853	0.23142	0.0:0.0782:0.154:0.7678	.	1993	Q8NFC6	BOD1L_HUMAN	I	1993	ENSP00000040738:K1993I	ENSP00000040738:K1993I	K	-	2	0	BOD1L	13211644	0.652000	0.27349	0.040000	0.18447	0.019000	0.09904	1.696000	0.37773	0.312000	0.23038	0.459000	0.35465	AAA		PASS	0.478	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		8	64	8	64	---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27000893	27000893	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:27000893G>A	ENST00000467011.1	+	5	974	c.549G>A	c.(547-549)ttG>ttA	p.L183L	STIM2_ENST00000465503.1_Silent_p.L183L|STIM2_ENST00000412829.2_Silent_p.L270L|STIM2_ENST00000467087.1_Silent_p.L183L|STIM2_ENST00000382009.3_Silent_p.L270L|STIM2_ENST00000237364.5_Silent_p.L270L	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	183	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.L270L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TCTCCCAGTTGAAAATCAGTG	0.358																																						uc003gsh.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(808-810)TTG>TTA		stromal interaction molecule 2							120.0	108.0	112.0					4																	27000893		2203	4300	6503	SO:0001819	synonymous_variant	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27000893G>A	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.549G>A	4.37:g.27000893G>A						STIM2_uc003gsg.3_Silent_p.L270L|STIM2_uc010iex.2_Silent_p.L270L	p.L270L	NM_020860	NP_065911	Q9P246	STIM2_HUMAN			5	1026	+		Breast(46;0.0503)	183			SAM.|Extracellular (Potential).		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Silent	SNP	ENST00000467011.1	37	c.810G>A	CCDS54752.1																																																																																				PASS	0.358	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		21	24	21	24	---	---	---	---
GNPDA2	132789	broad.mit.edu	37	4	44713028	44713028	+	Nonsense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:44713028G>C	ENST00000295448.3	-	5	692	c.536C>G	c.(535-537)tCa>tGa	p.S179*	GNPDA2_ENST00000507534.1_Nonsense_Mutation_p.S109*|GNPDA2_ENST00000509756.1_Nonsense_Mutation_p.S179*|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507917.1_Nonsense_Mutation_p.S145*	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	179					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)	p.S179*(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TGGCACTTTTGATAAATCTCC	0.378																																					Colon(54;743 1010 7604 16453 19544)	uc003gwy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(535-537)TCA>TGA		glucosamine-6-phosphate deaminase 2							125.0	119.0	121.0					4																	44713028		2203	4300	6503	SO:0001587	stop_gained	132789				N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr4:44713028G>C	AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.536C>G	4.37:g.44713028G>C	ENSP00000295448:p.Ser179*					GNPDA2_uc010iga.2_Nonsense_Mutation_p.S145*|GNPDA2_uc011bzb.1_Nonsense_Mutation_p.S109*|GNPDA2_uc003gwz.1_Nonsense_Mutation_p.S179*	p.S179*	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN			5	693	-			179					B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Nonsense_Mutation	SNP	ENST00000295448.3	37	c.536C>G	CCDS3469.1	.	.	.	.	.	.	.	.	.	.	G	36	5.730795	0.96856	.	.	ENSG00000163281	ENST00000507917;ENST00000295448;ENST00000507534;ENST00000509756	.	.	.	5.16	5.16	0.70880	.	0.200306	0.44688	D	0.000424	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.9281	17.8091	0.88610	0.0:0.0:1.0:0.0	.	.	.	.	X	145;179;109;179	.	ENSP00000295448:S179X	S	-	2	0	GNPDA2	44407785	1.000000	0.71417	0.875000	0.34327	0.982000	0.71751	9.263000	0.95617	2.673000	0.90976	0.650000	0.86243	TCA		PASS	0.378	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335		12	75	12	75	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46305529	46305529	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:46305529G>T	ENST00000510861.1	-	8	977	c.804C>A	c.(802-804)tcC>tcA	p.S268S	GABRA2_ENST00000515082.1_Silent_p.S268S|GABRA2_ENST00000514090.1_Silent_p.S268S|GABRA2_ENST00000356504.1_Silent_p.S268S|GABRA2_ENST00000540012.1_Silent_p.S213S|GABRA2_ENST00000381620.4_Silent_p.S268S|GABRA2_ENST00000507069.1_Silent_p.S268S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	268					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S268S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATGAAACTTGGGAGAGAATGA	0.388																																						uc003gxc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(802-804)TCC>TCA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						132.0	128.0	130.0					4																	46305529		2203	4300	6503	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46305529G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.804C>A	4.37:g.46305529G>T						GABRA2_uc010igc.2_Silent_p.S268S|GABRA2_uc011bzc.1_Silent_p.S213S|GABRA2_uc003gxe.2_Silent_p.S268S	p.S268S	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			7	1477	-			268			Helical; (Probable).		A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.804C>A	CCDS3471.1																																																																																				PASS	0.388	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			36	57	36	57	---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939827	47939827	+	Silent	SNP	C	C	G	rs149504668	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:47939827C>G	ENST00000514170.1	-	11	1003	c.684G>C	c.(682-684)ctG>ctC	p.L228L	CNGA1_ENST00000358519.4_Silent_p.L228L|CNGA1_ENST00000402813.3_Silent_p.L297L|CNGA1_ENST00000544810.1_Silent_p.L228L|CNGA1_ENST00000420489.2_Silent_p.L228L			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	228					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	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.L228L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CCTTTACCAGCAGTCCTTGTT	0.284																																						uc003gxt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(682-684)CTG>CTC		cyclic nucleotide gated channel alpha 1 isoform							59.0	62.0	61.0					4																	47939827		1801	4064	5865	SO:0001819	synonymous_variant	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939827C>G	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.684G>C	4.37:g.47939827C>G						uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.L297L	p.L228L	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	950	-			228			Cytoplasmic (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	ENST00000514170.1	37	c.684G>C	CCDS43226.1																																																																																				PASS	0.284	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		17	69	17	69	---	---	---	---
TXK	7294	broad.mit.edu	37	4	48115301	48115301	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:48115301T>A	ENST00000264316.4	-	3	182	c.97A>T	c.(97-99)Agc>Tgc	p.S33C	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	33					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)	p.S33C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCATCTGTGCTCAGGCTTATC	0.378																																						uc003gxx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)AGC>TGC		TXK tyrosine kinase							153.0	155.0	154.0					4																	48115301		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48115301T>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.97A>T	4.37:g.48115301T>A	ENSP00000264316:p.Ser33Cys					TXK_uc003gxy.1_Missense_Mutation_p.S33C	p.S33C	NM_003328	NP_003319	P42681	TXK_HUMAN			3	183	-			33					Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.97A>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483719	0.44147	.	.	ENSG00000074966	ENST00000264316;ENST00000506073	T;T	0.75367	-0.93;0.12	5.03	5.03	0.67393	.	0.247697	0.34959	N	0.003557	T	0.66742	0.2820	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.964	P;P	0.49999	0.628;0.533	T	0.66089	-0.6010	10	0.33940	T	0.23	.	11.0727	0.48012	0.0:0.0:0.0:1.0	.	33;33	E7EQN8;P42681	.;TXK_HUMAN	C	33	ENSP00000264316:S33C;ENSP00000422798:S33C	ENSP00000264316:S33C	S	-	1	0	TXK	47810058	0.697000	0.27767	0.980000	0.43619	0.020000	0.10135	1.672000	0.37523	2.108000	0.64289	0.460000	0.39030	AGC		PASS	0.378	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		14	73	14	73	---	---	---	---
CHIC2	26511	broad.mit.edu	37	4	54930367	54930367	+	Missense_Mutation	SNP	C	C	A	rs201359795	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:54930367C>A	ENST00000263921.3	-	1	490	c.101G>T	c.(100-102)gGc>gTc	p.G34V	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Missense_Mutation_p.G34V	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	34						Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)		p.G34V(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GTGACCGGAGCCGCGGACGAC	0.682			T	ETV6	AML																																	uc003haj.1				Dom	yes		4	4q11-q12	26511	T	cysteine-rich hydrophobic domain 2			L	ETV6		AML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(100-102)GGC>GTC		cysteine-rich hydrophobic domain 2							23.0	24.0	23.0					4																	54930367		2197	4297	6494	SO:0001583	missense	26511					plasma membrane	protein binding	g.chr4:54930367C>A	AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.101G>T	4.37:g.54930367C>A	ENSP00000263921:p.Gly34Val					PDGFRA_uc003haa.2_Intron	p.G34V	NM_012110	NP_036242	Q9UKJ5	CHIC2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		1	422	-	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		34					B2R639	Missense_Mutation	SNP	ENST00000263921.3	37	c.101G>T	CCDS3493.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871542	0.91587	.	.	ENSG00000109220	ENST00000263921;ENST00000512964	.	.	.	4.38	4.38	0.52667	.	0.113458	0.64402	D	0.000013	T	0.78253	0.4254	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81313	-0.0989	9	0.62326	D	0.03	.	16.8847	0.86072	0.0:1.0:0.0:0.0	.	34	Q9UKJ5	CHIC2_HUMAN	V	34	.	ENSP00000263921:G34V	G	-	2	0	CHIC2	54625124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.520000	0.73773	2.113000	0.64589	0.462000	0.41574	GGC		PASS	0.682	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219937.2			5	5	5	5	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55156543	55156543	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:55156543G>T	ENST00000257290.5	+	22	3275	c.2944G>T	c.(2944-2946)Gtg>Ttg	p.V982L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.V742L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	982					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V982L(1)|p.V982M(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ACGCATGCGTGTGGACTCAGA	0.448			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		2	Substitution - Missense(2)		large_intestine(1)|lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2944-2946)GTG>TTG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						156.0	135.0	142.0					4																	55156543		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156543G>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2944G>T	4.37:g.55156543G>T	ENSP00000257290:p.Val982Leu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.V742L	p.V982L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3275	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		982			Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2944G>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	1.221	-0.626886	0.03610	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.76448	-1.02;-0.83	5.77	5.77	0.91146	.	0.000000	0.29522	U	0.011903	T	0.66992	0.2846	L	0.34521	1.04	0.80722	D	1	B	0.22480	0.07	B	0.14023	0.01	T	0.61048	-0.7141	10	0.25106	T	0.35	.	13.2254	0.59912	0.0725:0.0:0.9275:0.0	.	982	P16234	PGFRA_HUMAN	L	742;982	ENSP00000423325:V742L;ENSP00000257290:V982L	ENSP00000423325:V742L	V	+	1	0	FIP1L1;PDGFRA	54851300	0.999000	0.42202	0.962000	0.40283	0.226000	0.24999	2.695000	0.47043	2.740000	0.93945	0.557000	0.71058	GTG		PASS	0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		25	266	25	266	---	---	---	---
KIT	3815	broad.mit.edu	37	4	55592146	55592146	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:55592146A>T	ENST00000288135.5	+	9	1567	c.1470A>T	c.(1468-1470)gaA>gaT	p.E490D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	490	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E490D(1)|p.E490_F504>DHIVVSLTF(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCACGGTTGAATGTAAGGCTT	0.398		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		2	Substitution - Missense(1)|Complex - deletion inframe(1)	p.E490_F504>DHIVVSLTF(1)	lung(1)|soft_tissue(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(1468-1470)GAA>GAT		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						138.0	123.0	128.0					4																	55592146		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55592146A>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1470A>T	4.37:g.55592146A>T	ENSP00000288135:p.Glu490Asp					KIT_uc010igs.2_Missense_Mutation_p.E490D|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	p.E490D	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	9	1557	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		490			Extracellular (Potential).|Ig-like C2-type 5.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1470A>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250390	0.39797	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.03330	3.97;3.97	6.02	3.37	0.38596	Immunoglobulin-like fold (1);	0.236340	0.31685	N	0.007224	T	0.06234	0.0161	M	0.81497	2.545	0.44149	D	0.996944	B;B	0.23540	0.087;0.026	B;B	0.21708	0.036;0.031	T	0.13255	-1.0516	10	0.44086	T	0.13	.	5.5592	0.17133	0.2978:0.1422:0.56:0.0	.	490;490	P10721-2;P10721	.;KIT_HUMAN	D	490	ENSP00000288135:E490D;ENSP00000390987:E490D	ENSP00000288135:E490D	E	+	3	2	KIT	55286903	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	0.971000	0.29396	0.434000	0.26340	-0.899000	0.02877	GAA		PASS	0.398	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			178	48	178	48	---	---	---	---
KIT	3815	broad.mit.edu	37	4	55599352	55599352	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:55599352A>C	ENST00000288135.5	+	17	2575	c.2478A>C	c.(2476-2478)aaA>aaC	p.K826N		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	826	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K826N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTGGTTAAAGGAAACGTGA	0.368		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		1	Substitution - Missense(1)		lung(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(2476-2478)AAA>AAC		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						149.0	152.0	151.0					4																	55599352		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55599352A>C	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2478A>C	4.37:g.55599352A>C	ENSP00000288135:p.Lys826Asn					KIT_uc010igs.2_Missense_Mutation_p.K822N	p.K826N	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	17	2565	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		826			Protein kinase.|Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2478A>C	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.637484	0.67130	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83673	-1.75;-1.75	5.47	5.47	0.80525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000009	D	0.86197	0.5875	L	0.39633	1.23	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.981;0.999	D	0.87051	0.2147	10	0.87932	D	0	.	9.9825	0.41821	0.9243:0.0:0.0757:0.0	.	822;826	P10721-2;P10721	.;KIT_HUMAN	N	826;822	ENSP00000288135:K826N;ENSP00000390987:K822N	ENSP00000288135:K826N	K	+	3	2	KIT	55294109	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.627000	0.46469	2.084000	0.62774	0.477000	0.44152	AAA		PASS	0.368	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			23	368	23	368	---	---	---	---
REST	5978	broad.mit.edu	37	4	57798239	57798239	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:57798239G>A	ENST00000309042.7	+	4	3529	c.3215G>A	c.(3214-3216)gGa>gAa	p.G1072E		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	1072	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G1072E(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TTCAGAAAGGGAAAAGATTAC	0.408																																						uc003hch.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(3214-3216)GGA>GAA		RE1-silencing transcription factor							94.0	93.0	93.0					4																	57798239		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57798239G>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.3215G>A	4.37:g.57798239G>A	ENSP00000311816:p.Gly1072Glu					REST_uc003hci.2_Missense_Mutation_p.G1072E|REST_uc010ihf.2_Missense_Mutation_p.G746E	p.G1072E	NM_005612	NP_005603	Q13127	REST_HUMAN			4	3562	+	Glioma(25;0.08)|all_neural(26;0.181)		1072			C2H2-type 9.|Interaction with RCOR1.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.3215G>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	2.263	-0.368707	0.05069	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.28454	1.61	5.95	3.39	0.38822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.160855	0.29403	N	0.012245	T	0.08358	0.0208	N	0.01048	-1.04	0.28639	N	0.907252	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.36625	-0.9740	10	0.02654	T	1	-22.5164	9.2956	0.37813	0.837:0.0:0.163:0.0	.	1049;1072	F8WAN5;Q13127	.;REST_HUMAN	E	1072;1049	ENSP00000311816:G1072E	ENSP00000311816:G1072E	G	+	2	0	REST	57492996	1.000000	0.71417	0.857000	0.33713	0.913000	0.54294	6.632000	0.74281	0.427000	0.26145	-0.345000	0.07892	GGA		PASS	0.408	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		55	32	55	32	---	---	---	---
UGT2B11	10720	broad.mit.edu	37	4	70066419	70066419	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:70066419C>A	ENST00000446444.1	-	6	1337	c.1329G>T	c.(1327-1329)atG>atT	p.M443I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	443					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.M443I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTGATAATTTCATAATATTCT	0.358																																						uc003heh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1327-1329)ATG>ATT		UDP glucuronosyltransferase 2 family,							53.0	58.0	56.0					4																	70066419		2203	4298	6501	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70066419C>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1329G>T	4.37:g.70066419C>A	ENSP00000387683:p.Met443Ile					uc003hei.1_Intron	p.M443I	NM_001073	NP_001064	O75310	UDB11_HUMAN			6	1338	-			443					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1329G>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	3.643	-0.073176	0.07184	.	.	ENSG00000213759	ENST00000446444	T	0.66995	-0.24	1.27	1.27	0.21489	.	0.135014	0.45126	U	0.000393	T	0.67924	0.2945	M	0.89478	3.035	0.21740	N	0.999566	B	0.16603	0.018	B	0.23150	0.044	T	0.65730	-0.6097	10	0.66056	D	0.02	.	8.4963	0.33130	0.0:1.0:0.0:0.0	.	443	O75310	UDB11_HUMAN	I	443	ENSP00000387683:M443I	ENSP00000387683:M443I	M	-	3	0	UGT2B11	70101008	0.004000	0.15560	0.363000	0.25875	0.227000	0.25037	1.348000	0.33987	1.023000	0.39654	0.184000	0.17185	ATG		PASS	0.358	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		35	46	35	46	---	---	---	---
UGT2B28	54490	broad.mit.edu	37	4	70146511	70146511	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:70146511C>T	ENST00000335568.5	+	1	295	c.293C>T	c.(292-294)tCa>tTa	p.S98L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.S98L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	98					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S98L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGAGATGGTCAGACATTCAA	0.323																																						uc003hej.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(292-294)TCA>TTA		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						90.0	113.0	105.0					4																	70146511		2191	4288	6479	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146511C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.293C>T	4.37:g.70146511C>T	ENSP00000334276:p.Ser98Leu					UGT2B28_uc010ihr.2_Missense_Mutation_p.S98L	p.S98L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			1	295	+			98					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.293C>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.052	-1.247049	0.01481	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.57907	0.37;0.37	1.6	-3.2	0.05156	.	0.635334	0.13428	U	0.388628	T	0.20536	0.0494	N	0.02916	-0.46	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.26052	-1.0114	10	0.10902	T	0.67	.	8.4164	0.32674	0.0:0.5884:0.0:0.4116	.	98;98	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	L	98	ENSP00000334276:S98L;ENSP00000427399:S98L	ENSP00000334276:S98L	S	+	2	0	UGT2B28	70181100	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.523000	0.00949	-1.270000	0.02433	-1.109000	0.02080	TCA		PASS	0.323	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		20	84	20	84	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73434420	73434420	+	Silent	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:73434420A>T	ENST00000286657.4	-	1	96	c.60T>A	c.(58-60)gcT>gcA	p.A20A	ADAMTS3_ENST00000505193.1_5'Flank	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	20					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A20A(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTGTCCATCAGCTGAAGTCC	0.443																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(58-60)GCT>GCA		ADAM metallopeptidase with thrombospondin type 1							47.0	48.0	47.0					4																	73434420		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73434420A>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.60T>A	4.37:g.73434420A>T							p.A20A	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	97	-			20					A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.60T>A	CCDS3553.1																																																																																				PASS	0.443	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			19	14	19	14	---	---	---	---
ALB	213	broad.mit.edu	37	4	74275097	74275097	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:74275097C>T	ENST00000503124.1	+	3	265	c.58C>T	c.(58-60)Cat>Tat	p.H20Y	ALB_ENST00000401494.3_Missense_Mutation_p.H55Y|ALB_ENST00000295897.4_Missense_Mutation_p.H170Y|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.H170Y			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.H170Y(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCCAGAAGACATCCTTACTT	0.343																																						uc003hgs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(508-510)CAT>TAT		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						64.0	70.0	68.0					4																	74275097		2203	4299	6502	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74275097C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.58C>T	4.37:g.74275097C>T	ENSP00000421027:p.His20Tyr					ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.H170Y|ALB_uc010iii.2_Missense_Mutation_p.H55Y|ALB_uc003hgu.3_Missense_Mutation_p.H20Y|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.H60Y|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	p.H170Y	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	581	+	Breast(15;0.00102)		170			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.508C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.95|19.95	3.922496|3.922496	0.73213|0.73213	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.76448|.	-1.02;-1.02;0.73;-1.02;0.73|.	5.55|5.55	2.87|2.87	0.33458|0.33458	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	0.059343|.	0.64402|.	N|.	0.000003|.	T|T	0.66096|0.66096	0.2755|0.2755	M|M	0.76938|0.76938	2.355|2.355	0.44366|0.44366	D|D	0.997261|0.997261	D;P;D;D|.	0.71674|.	0.998;0.882;0.986;0.974|.	D;P;P;P|.	0.76575|.	0.988;0.477;0.874;0.807|.	T|T	0.62770|0.62770	-0.6784|-0.6784	10|5	0.87932|.	D|.	0|.	-22.3182|-22.3182	8.5618|8.5618	0.33516|0.33516	0.2737:0.6545:0.0:0.0718|0.2737:0.6545:0.0:0.0718	.|.	55;20;170;170|.	B7WNR0;D6RHD5;A6NBZ8;P02768|.	.;.;.;ALBU_HUMAN|.	Y|I	172;170;20;170;55;179|14	ENSP00000392541:H172Y;ENSP00000295897:H170Y;ENSP00000421027:H20Y;ENSP00000422784:H170Y;ENSP00000384695:H55Y|.	ENSP00000295897:H170Y|.	H|T	+|+	1|2	0|0	ALB|ALB	74493961|74493961	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.332000|0.332000	0.19751|0.19751	0.436000|0.436000	0.26393|0.26393	0.591000|0.591000	0.81541|0.81541	CAT|ACA		PASS	0.343	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		10	56	10	56	---	---	---	---
G3BP2	9908	broad.mit.edu	37	4	76570810	76570810	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:76570810C>G	ENST00000359707.4	-	12	2038	c.1253G>C	c.(1252-1254)aGa>aCa	p.R418T	G3BP2_ENST00000395719.3_Missense_Mutation_p.R418T|G3BP2_ENST00000357854.3_Missense_Mutation_p.R385T	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	418					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.R418T(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACCACCACCTCTGGTTTCTCG	0.458																																						uc003hir.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|central_nervous_system(1)	3						c.(1252-1254)AGA>ACA		Ras-GTPase activating protein SH3 domain-binding							252.0	202.0	219.0					4																	76570810		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76570810C>G	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1253G>C	4.37:g.76570810C>G	ENSP00000352738:p.Arg418Thr					G3BP2_uc003his.2_Missense_Mutation_p.R418T|G3BP2_uc003hit.2_Missense_Mutation_p.R385T	p.R418T	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		12	1418	-			418					A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.1253G>C	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910468	0.72983	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	D;D;D	0.86297	-2.1;-2.1;-2.1	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.92564	0.7638	L	0.61218	1.895	0.80722	D	1	D;D	0.61080	0.989;0.967	D;D	0.72625	0.978;0.916	D	0.89052	0.3456	10	0.26408	T	0.33	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	385;418	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	T	418;418;385	ENSP00000379069:R418T;ENSP00000352738:R418T;ENSP00000350518:R385T	ENSP00000350518:R385T	R	-	2	0	G3BP2	76789834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.395000	0.79876	2.941000	0.99782	0.655000	0.94253	AGA		PASS	0.458	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		36	25	36	25	---	---	---	---
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230773	77230773	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:77230773G>T	ENST00000237642.6	+	2	1441	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.D84Y|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough									p.D233Y(1)									CCAGGGAATGGACAATGGAAG	0.517																																						uc003hka.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(697-699)GAC>TAC		starch binding domain 1							87.0	74.0	78.0					4																	77230773		2203	4300	6503	SO:0001583	missense	8987				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding	g.chr4:77230773G>T		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.697G>T	4.37:g.77230773G>T	ENSP00000237642:p.Asp233Tyr					STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Missense_Mutation_p.D84Y	p.D233Y	NM_003943	NP_003934	O95210	STBD1_HUMAN	Lung(101;0.196)		2	943	+			233			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000237642.6	37	c.697G>T	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443969	0.25987	.	.	ENSG00000118804	ENST00000539752;ENST00000237642	.	.	.	4.98	3.22	0.36961	.	0.253940	0.30437	N	0.009637	T	0.45716	0.1356	L	0.54323	1.7	0.09310	N	1	P	0.50943	0.94	P	0.50934	0.654	T	0.35871	-0.9771	9	0.87932	D	0	-7.9935	9.1991	0.37246	0.0793:0.1474:0.7732:0.0	.	233	O95210	STBD1_HUMAN	Y	84;233	.	ENSP00000237642:D233Y	D	+	1	0	STBD1	77449797	0.998000	0.40836	0.030000	0.17652	0.002000	0.02628	1.770000	0.38532	0.662000	0.31006	0.655000	0.94253	GAC		PASS	0.517	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			15	16	15	16	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79353585	79353585	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:79353585G>C	ENST00000325942.6	+	38	5484	c.5044G>C	c.(5044-5046)Gac>Cac	p.D1682H	FRAS1_ENST00000264895.6_Missense_Mutation_p.D1682H	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1682					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.D1682H(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TACCCGGGAAGACAGCATGGA	0.478																																						uc003hlb.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(5)	5						c.(5044-5046)GAC>CAC		Fraser syndrome 1							64.0	65.0	65.0					4																	79353585		1977	4158	6135	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79353585G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5044G>C	4.37:g.79353585G>C	ENSP00000326330:p.Asp1682His					FRAS1_uc003hkw.2_Missense_Mutation_p.D1682H|FRAS1_uc010ijj.1_Missense_Mutation_p.D102H	p.D1682H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			38	5484	+			1681			CSPG 5.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5044G>C	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.34|17.34	3.365339|3.365339	0.61513|0.61513	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316|ENST00000510944	T;T|.	0.52526|.	0.66;0.66|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.048301|.	0.85682|.	D|.	0.000000|.	D|D	0.84120|0.84120	0.5402|0.5402	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.994;0.999|.	D|D	0.83708|0.83708	0.0186|0.0186	10|5	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1682;1682|.	E9PHH6;A2RRR8|.	.;.|.	H|T	1682;1682;102|131	ENSP00000326330:D1682H;ENSP00000264895:D1682H|.	ENSP00000264895:D1682H|.	D|R	+|+	1|2	0|0	FRAS1|FRAS1	79572609|79572609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.006000|0.006000	0.05464|0.05464	9.036000|9.036000	0.93758|0.93758	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|AGA		PASS	0.478	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			12	7	12	7	---	---	---	---
MEPE	56955	broad.mit.edu	37	4	88766732	88766732	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:88766732G>T	ENST00000424957.3	+	4	785	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.G125C|MEPE_ENST00000497649.2_Missense_Mutation_p.G214C|MEPE_ENST00000361056.3_Missense_Mutation_p.G238C|MEPE_ENST00000395102.4_Missense_Mutation_p.G269C|MEPE_ENST00000560249.1_Missense_Mutation_p.G125C	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	238					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G238C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGATTTTGAAGGCAGCGGTTA	0.413																																						uc003hqy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(712-714)GGC>TGC		matrix, extracellular phosphoglycoprotein with							75.0	76.0	76.0					4																	88766732		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766732G>T	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.712G>T	4.37:g.88766732G>T	ENSP00000416984:p.Gly238Cys					MEPE_uc010ikn.2_Missense_Mutation_p.G125C	p.G238C	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	751	+		Hepatocellular(203;0.114)	238					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.712G>T	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251796	0.59212	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.61510	0.12;0.14;0.1;0.14;0.12	4.7	4.7	0.59300	.	0.120012	0.38111	N	0.001811	T	0.75744	0.3891	M	0.79805	2.47	0.40230	D	0.977836	D	0.89917	1.0	D	0.97110	1.0	T	0.79948	-0.1588	10	0.87932	D	0	-11.4972	13.04	0.58893	0.0:0.0:1.0:0.0	.	238	Q9NQ76	MEPE_HUMAN	C	238;238;269;214;125;238	ENSP00000416984:G238C;ENSP00000378534:G269C;ENSP00000422747:G214C;ENSP00000443491:G125C;ENSP00000354341:G238C	ENSP00000354341:G238C	G	+	1	0	MEPE	88985756	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	4.635000	0.61332	2.453000	0.82957	0.561000	0.74099	GGC		PASS	0.413	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			21	36	21	36	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88989210	88989210	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:88989210A>C	ENST00000508588.1	+	8	1168	c.773A>C	c.(772-774)cAa>cCa	p.Q258P	PKD2_ENST00000237596.2_Missense_Mutation_p.Q840P|PKD2_ENST00000502363.1_Missense_Mutation_p.Q258P|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.Q840P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GAAGAGTTTCAAGTGTAAGTA	0.458																																						uc003hre.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2518-2520)CAA>CCA		polycystin 2							109.0	100.0	103.0					4																	88989210		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88989210A>C	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.773A>C	4.37:g.88989210A>C	ENSP00000427131:p.Gln258Pro					PKD2_uc011cdf.1_Missense_Mutation_p.Q258P|PKD2_uc011cdg.1_Missense_Mutation_p.Q166P|PKD2_uc011cdh.1_Missense_Mutation_p.Q63P	p.Q840P	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	13	2585	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	840			Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2519A>C		.	.	.	.	.	.	.	.	.	.	A	16.87	3.240730	0.58995	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.72505	-0.66;-0.66;-0.66	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.82010	0.4944	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.82372	-0.0490	10	0.48119	T	0.1	-16.0817	15.933	0.79679	1.0:0.0:0.0:0.0	.	840	Q13563	PKD2_HUMAN	P	840;258;258	ENSP00000237596:Q840P;ENSP00000427131:Q258P;ENSP00000425289:Q258P	ENSP00000237596:Q840P	Q	+	2	0	PKD2	89208234	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	8.620000	0.90943	2.155000	0.67459	0.460000	0.39030	CAA		PASS	0.458	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		28	38	28	38	---	---	---	---
STPG2	285555	broad.mit.edu	37	4	98893523	98893523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:98893523G>A	ENST00000295268.3	-	7	930	c.841C>T	c.(841-843)Cag>Tag	p.Q281*		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	281								p.Q281*(1)									CTTTTCTTCTGTTTCTTTGAG	0.353																																						uc003htt.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(841-843)CAG>TAG		hypothetical protein LOC285555							75.0	74.0	74.0					4																	98893523		2203	4300	6503	SO:0001587	stop_gained	285555							g.chr4:98893523G>A	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.841C>T	4.37:g.98893523G>A	ENSP00000295268:p.Gln281*						p.Q281*	NM_174952	NP_777612	Q8N412	CD037_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)	7	931	-			281						Nonsense_Mutation	SNP	ENST00000295268.3	37	c.841C>T	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592157	0.86953	.	.	ENSG00000163116	ENST00000295268	.	.	.	5.45	-6.15	0.02105	.	1.861390	0.02359	N	0.076715	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.8879	15.6349	0.76944	0.0:0.0786:0.129:0.7924	.	.	.	.	X	281	.	.	Q	-	1	0	C4orf37	99112546	0.038000	0.19896	0.000000	0.03702	0.229000	0.25112	-0.240000	0.08952	-0.754000	0.04715	-0.319000	0.08680	CAG		PASS	0.353	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		34	26	34	26	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100515905	100515905	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:100515905G>C	ENST00000265517.5	+	7	977	c.774G>C	c.(772-774)ctG>ctC	p.L258L	MTTP_ENST00000457717.1_Silent_p.L258L|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.L285L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	258	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.L258L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AATTAGAGCTGAAGACAACCG	0.418																																						uc003hvc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(772-774)CTG>CTC		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						94.0	89.0	91.0					4																	100515905		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100515905G>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.774G>C	4.37:g.100515905G>C						MTTP_uc011cej.1_Silent_p.L285L	p.L258L	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	8	1030	+			258			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.774G>C	CCDS3651.1																																																																																				PASS	0.418	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			28	34	28	34	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104054854	104054854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:104054854C>A	ENST00000265148.3	-	41	6807	c.6718G>T	c.(6718-6720)Gag>Tag	p.E2240*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E2119*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2240	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.E2203*(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AATTATACCTCAATATGTAGA	0.303																																						uc003hxb.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(4)	9						c.(6718-6720)GAG>TAG		centromere protein E							63.0	61.0	62.0					4																	104054854		2201	4298	6499	SO:0001587	stop_gained	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104054854C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6718G>T	4.37:g.104054854C>A	ENSP00000265148:p.Glu2240*					CENPE_uc003hxc.1_Nonsense_Mutation_p.E2119*	p.E2240*	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	41	6808	-			2240			Kinetochore-binding domain.|Potential.		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	c.6718G>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	47	13.328232	0.99735	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	.	.	.	5.38	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.7543	0.34637	0.1718:0.6628:0.1654:0.0	.	.	.	.	X	2240;2204;2119	.	ENSP00000265148:E2240X	E	-	1	0	CENPE	104274303	0.996000	0.38824	0.999000	0.59377	0.987000	0.75469	0.939000	0.28978	0.603000	0.29913	0.637000	0.83480	GAG		PASS	0.303	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	16	6	16	---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113348773	113348773	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:113348773G>C	ENST00000458497.1	+	9	1026	c.747G>C	c.(745-747)atG>atC	p.M249I	ALPK1_ENST00000504176.2_Missense_Mutation_p.M171I|ALPK1_ENST00000177648.9_Missense_Mutation_p.M249I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	249							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.M249I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTGTTTCCATGAGCAAGAACG	0.388																																						uc003iap.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(745-747)ATG>ATC		alpha-kinase 1							112.0	108.0	109.0					4																	113348773		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113348773G>C	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.747G>C	4.37:g.113348773G>C	ENSP00000398048:p.Met249Ile					ALPK1_uc003ian.3_Missense_Mutation_p.M249I|ALPK1_uc011cfx.1_Missense_Mutation_p.M171I|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.M77I	p.M249I	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	9	1026	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	249					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.747G>C	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865880	0.91511	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.29397	1.57;1.57;1.57	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.77820	2.39	0.53005	D	0.999963	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.986;0.98	T	0.64223	-0.6458	10	0.87932	D	0	-27.9816	18.9142	0.92498	0.0:0.0:1.0:0.0	.	171;171;249	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	I	249;249;171	ENSP00000398048:M249I;ENSP00000177648:M249I;ENSP00000426044:M171I	ENSP00000177648:M249I	M	+	3	0	ALPK1	113568222	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.564000	0.90726	2.462000	0.83206	0.563000	0.77884	ATG		PASS	0.388	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		5	10	5	10	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114282011	114282011	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:114282011A>T	ENST00000357077.4	+	39	10767	c.10714A>T	c.(10714-10716)Agg>Tgg	p.R3572W	ANK2_ENST00000394537.3_Missense_Mutation_p.R1487W|ANK2_ENST00000264366.6_Missense_Mutation_p.R3539W|ANK2_ENST00000510275.2_Missense_Mutation_p.R139W|ANK2_ENST00000506722.1_Missense_Mutation_p.R1478W|ANK2_ENST00000509550.1_Missense_Mutation_p.R663W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3572	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3572W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATCGAGGAAAGGCTGGCTTA	0.463																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10714-10716)AGG>TGG		ankyrin 2 isoform 1							144.0	125.0	131.0					4																	114282011		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114282011A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10714A>T	4.37:g.114282011A>T	ENSP00000349588:p.Arg3572Trp					ANK2_uc003ibd.3_Missense_Mutation_p.R1478W|ANK2_uc003ibf.3_Missense_Mutation_p.R1487W|ANK2_uc011cgc.1_Missense_Mutation_p.R663W|ANK2_uc003ibg.3_Missense_Mutation_p.R471W|ANK2_uc003ibh.3_Missense_Mutation_p.R161W|ANK2_uc011cgd.1_Missense_Mutation_p.R874W	p.R3572W	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	39	10814	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3539			Death.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10714A>T	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.055728|4.055728	0.75960|0.75960	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|D;D;D;D;D;D;D	.|0.85411	.|-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.43|5.43	4.22|4.22	0.49857|0.49857	.|.	.|0.000000	.|0.64402	.|D	.|0.000013	D|D	0.90061|0.90061	0.6896|0.6896	L|L	0.59436|0.59436	1.845|1.845	0.40321|0.40321	D|D	0.978824|0.978824	.|D;D;D;D;D;D	.|0.89917	.|0.995;0.998;0.999;0.989;1.0;0.995	.|D;D;D;P;D;P	.|0.97110	.|0.957;0.977;0.912;0.782;1.0;0.879	D|D	0.90516|0.90516	0.4485|0.4485	5|10	.|0.87932	.|D	.|0	.|.	12.5102|12.5102	0.56002|0.56002	0.8603:0.1397:0.0:0.0|0.8603:0.1397:0.0:0.0	.|.	.|663;522;488;1487;3572;1478	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	M|W	488;139|1478;522;1487;3572;3539;1478;663;139;582	.|ENSP00000421067:R1478W;ENSP00000378044:R1487W;ENSP00000349588:R3572W;ENSP00000264366:R3539W;ENSP00000426944:R663W;ENSP00000421023:R139W;ENSP00000422498:R582W	.|ENSP00000264366:R3539W	K|R	+|+	2|1	0|2	ANK2|ANK2	114501460|114501460	0.992000|0.992000	0.36948|0.36948	0.986000|0.986000	0.45419|0.45419	0.985000|0.985000	0.73830|0.73830	2.798000|2.798000	0.47884|0.47884	0.867000|0.867000	0.35654|0.35654	0.455000|0.455000	0.32223|0.32223	AAG|AGG		PASS	0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		5	2	5	2	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115891700	115891700	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:115891700C>A	ENST00000264363.2	-	4	1785	c.1107G>T	c.(1105-1107)cgG>cgT	p.R369R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	369	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.R369R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CATCCACAGACCGAAGTAAAA	0.393																																						uc003ibu.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1105-1107)CGG>CGT		heparan sulfate N-deacetylase/N-sulfotransferase							136.0	122.0	127.0					4																	115891700		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115891700C>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1107G>T	4.37:g.115891700C>A						NDST4_uc010imw.2_RNA	p.R369R	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	4	1786	-		Ovarian(17;0.156)	369			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1107G>T	CCDS3706.1																																																																																				PASS	0.393	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		11	26	11	26	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123207785	123207785	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:123207785C>A	ENST00000264501.4	+	53	9500	c.9127C>A	c.(9127-9129)Cct>Act	p.P3043T	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P3043T|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P3043T			Q2LD37	K1109_HUMAN	KIAA1109	3043					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P3043T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AACCATTCCTCCTTCTGCCAG	0.398																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(9127-9129)CCT>ACT		fragile site-associated protein							164.0	154.0	157.0					4																	123207785		1919	4121	6040	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123207785C>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9127C>A	4.37:g.123207785C>A	ENSP00000264501:p.Pro3043Thr					KIAA1109_uc003iel.1_Missense_Mutation_p.P978T	p.P3043T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			51	9172	+			3043					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.9127C>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.66|18.66	3.670681|3.670681	0.67814|0.67814	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.22743|.	2.53;2.53;1.94|.	5.63|5.63	4.79|4.79	0.61399|0.61399	.|.	0.071841|.	0.56097|.	D|.	0.000031|.	T|T	0.57125|0.57125	0.2032|0.2032	L|L	0.38838|0.38838	1.175|1.175	0.50039|0.50039	D|D	0.999844|0.999844	B;P|.	0.37061|.	0.137;0.58|.	B;B|.	0.37601|.	0.133;0.254|.	T|T	0.53746|0.53746	-0.8395|-0.8395	10|5	0.16420|.	T|.	0.52|.	.|.	14.4933|14.4933	0.67667|0.67667	0.0:0.9297:0.0:0.0703|0.0:0.9297:0.0:0.0703	.|.	3043;3043|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	T|Y	3043|1000	ENSP00000264501:P3043T;ENSP00000373390:P3043T;ENSP00000389925:P3043T|.	ENSP00000264501:P3043T|.	P|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123427235|123427235	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.369000|7.369000	0.79578|0.79578	1.394000|1.394000	0.46624|0.46624	0.650000|0.650000	0.86243|0.86243	CCT|TCC		PASS	0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		22	51	22	51	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123333783	123333783	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:123333783C>G	ENST00000296513.2	+	10	1253	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	ADAD1_ENST00000388725.2_Silent_p.L338L|ADAD1_ENST00000388724.2_Silent_p.L345L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	356	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.L356L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAAGAACTCTGTCTCCACG	0.358																																						uc003ieo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1066-1068)CTC>CTG		adenosine deaminase domain containing 1							164.0	156.0	159.0					4																	123333783		2203	4300	6503	SO:0001819	synonymous_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123333783C>G	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1068C>G	4.37:g.123333783C>G						ADAD1_uc003iep.2_Silent_p.L345L|ADAD1_uc003ieq.2_Silent_p.L338L	p.L356L	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			10	1300	+			356			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	ENST00000296513.2	37	c.1068C>G	CCDS34058.1																																																																																				PASS	0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		48	30	48	30	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125599908	125599908	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:125599908T>C	ENST00000504087.1	-	3	1702	c.665A>G	c.(664-666)cAt>cGt	p.H222R	ANKRD50_ENST00000515641.1_Missense_Mutation_p.H43R	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	222								p.H222R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAAGAACTCATGGTGACCAGC	0.428																																						uc003ifg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(664-666)CAT>CGT		ankyrin repeat domain 50							189.0	184.0	185.0					4																	125599908		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125599908T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.665A>G	4.37:g.125599908T>C	ENSP00000425658:p.His222Arg					ANKRD50_uc011cgo.1_Missense_Mutation_p.H43R|ANKRD50_uc010inw.2_Missense_Mutation_p.H222R	p.H222R	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			2	931	-			222					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.665A>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604329	0.28534	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66280	2.32;-0.2	5.81	5.81	0.92471	.	0.181774	0.47093	D	0.000246	T	0.56804	0.2010	L	0.54323	1.7	0.42602	D	0.99328	B	0.18166	0.026	B	0.20184	0.028	T	0.53872	-0.8377	10	0.32370	T	0.25	.	11.8852	0.52598	0.1379:0.0:0.0:0.8621	.	222	Q9ULJ7	ANR50_HUMAN	R	222;43	ENSP00000425658:H222R;ENSP00000425355:H43R	ENSP00000425658:H222R	H	-	2	0	ANKRD50	125819358	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	4.363000	0.59473	2.228000	0.72767	0.477000	0.44152	CAT		PASS	0.428	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		53	93	53	93	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126412468	126412468	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:126412468G>C	ENST00000394329.3	+	17	14504	c.14491G>C	c.(14491-14493)Gat>Cat	p.D4831H	FAT4_ENST00000335110.5_Missense_Mutation_p.D3072H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4831					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.D4831H(1)|p.D4774H(1)		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						GAATCCAGCGGATGGCATTCC	0.488																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14491-14493)GAT>CAT		FAT tumor suppressor homolog 4 precursor							62.0	62.0	62.0					4																	126412468		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412468G>C	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.14491G>C	4.37:g.126412468G>C	ENSP00000377862:p.Asp4831His					FAT4_uc011cgp.1_Missense_Mutation_p.D3072H|FAT4_uc003ifi.1_Missense_Mutation_p.D2308H	p.D4831H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14491	+			4831			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14491G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258612	0.39896	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76316	-0.84;-1.01	5.19	5.19	0.71726	.	0.000000	0.35378	U	0.003259	D	0.83871	0.5348	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.96;0.982	T	0.83097	-0.0130	10	0.39692	T	0.17	.	17.7328	0.88383	0.0:0.0:1.0:0.0	.	3072;4831;4830	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4831;3072	ENSP00000377862:D4831H;ENSP00000335169:D3072H	ENSP00000335169:D3072H	D	+	1	0	FAT4	126631918	1.000000	0.71417	0.277000	0.24703	0.068000	0.16541	9.257000	0.95545	2.425000	0.82216	0.491000	0.48974	GAT		PASS	0.488	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	43	9	43	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144390295	144390295	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:144390295G>T	ENST00000262994.4	+	10	2340	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W	GAB1_ENST00000262995.4_Missense_Mutation_p.G710W|GAB1_ENST00000505913.1_Missense_Mutation_p.G577W	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	680					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.G710W(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CTGGACAGATGGGAGACAGTC	0.438																																						uc003ije.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)|skin(1)	4						c.(2038-2040)GGG>TGG		GRB2-associated binding protein 1 isoform b							120.0	118.0	118.0					4																	144390295		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144390295G>T	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.2038G>T	4.37:g.144390295G>T	ENSP00000262994:p.Gly680Trp					GAB1_uc003ijd.2_Missense_Mutation_p.G710W|GAB1_uc011chq.1_Missense_Mutation_p.G577W	p.G680W	NM_002039	NP_002030	Q13480	GAB1_HUMAN			10	2397	+	all_hematologic(180;0.158)		680					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.2038G>T	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132996	0.77662	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.15487	2.42;2.42;2.42	6.07	6.07	0.98685	.	0.048963	0.85682	D	0.000000	T	0.44850	0.1313	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.15150	-1.0447	10	0.72032	D	0.01	-18.3276	20.6593	0.99626	0.0:0.0:1.0:0.0	.	680;710	Q13480;Q13480-2	GAB1_HUMAN;.	W	710;680;577	ENSP00000262995:G710W;ENSP00000262994:G680W;ENSP00000424554:G577W	ENSP00000262994:G680W	G	+	1	0	GAB1	144609745	1.000000	0.71417	0.944000	0.38274	0.987000	0.75469	9.381000	0.97205	2.885000	0.99019	0.655000	0.94253	GGG		PASS	0.438	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		22	28	22	28	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155254549	155254549	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:155254549G>T	ENST00000357232.4	-	9	1313	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	DCHS2_ENST00000339452.1_Silent_p.P937P|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	438	Cadherin 3. {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.P937P(1)|p.P438P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGTGATCCAGGGGCTTCCGGG	0.597																																						uc003inw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(1312-1314)CCC>CCA		dachsous 2 isoform 1							51.0	53.0	52.0					4																	155254549		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254549G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1314C>A	4.37:g.155254549G>T						DCHS2_uc003inx.2_Silent_p.P937P	p.P438P	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1314	-	all_hematologic(180;0.208)	Renal(120;0.0854)	438			Cadherin 3.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1314C>A	CCDS3785.1																																																																																				PASS	0.597	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		12	21	12	21	---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155459240	155459240	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:155459240G>C	ENST00000499023.2	-	13	1298	c.1172C>G	c.(1171-1173)tCt>tGt	p.S391C	PLRG1_ENST00000393905.2_Missense_Mutation_p.S391C|PLRG1_ENST00000302078.5_Missense_Mutation_p.S382C	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	391					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.S391C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				GTTATCTGGAGAACCAGATGC	0.303																																						uc003iny.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1171-1173)TCT>TGT		pleiotropic regulator 1 (PRL1 homolog,							34.0	35.0	35.0					4																	155459240		2201	4294	6495	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155459240G>C	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1172C>G	4.37:g.155459240G>C	ENSP00000424417:p.Ser391Cys					PLRG1_uc003inz.2_Missense_Mutation_p.S382C	p.S391C	NM_002669	NP_002660	O43660	PLRG1_HUMAN			13	1235	-	all_hematologic(180;0.215)	Renal(120;0.0854)	391			WD 5.		B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.1172C>G	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655359	0.88056	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000503251;ENST00000302078	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	M	0.81341	2.54	0.80722	D	1	D;P	0.89917	1.0;0.852	D;P	0.71656	0.974;0.696	D	0.87926	0.2707	10	0.66056	D	0.02	-22.0119	19.8433	0.96699	0.0:0.0:1.0:0.0	.	382;391	O43660-2;O43660	.;PLRG1_HUMAN	C	391;391;34;382	ENSP00000424417:S391C;ENSP00000377483:S391C;ENSP00000426497:S34C;ENSP00000303191:S382C	ENSP00000303191:S382C	S	-	2	0	PLRG1	155678690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.618000	0.98365	2.681000	0.91329	0.585000	0.79938	TCT		PASS	0.303	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		4	23	4	23	---	---	---	---
TLL1	7092	broad.mit.edu	37	4	167020663	167020663	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:167020663G>C	ENST00000061240.2	+	20	3538	c.2891G>C	c.(2890-2892)cGa>cCa	p.R964P	TLL1_ENST00000507499.1_Missense_Mutation_p.R987P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	964	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R964P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGGCTTGGTCGATTCTGTGGA	0.423																																						uc003irh.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2890-2892)CGA>CCA		tolloid-like 1 precursor							173.0	178.0	177.0					4																	167020663		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:167020663G>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2891G>C	4.37:g.167020663G>C	ENSP00000061240:p.Arg964Pro					TLL1_uc011cjn.1_Missense_Mutation_p.R987P|TLL1_uc011cjo.1_Missense_Mutation_p.R788P	p.R964P	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	20	3538	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	964			CUB 5.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2891G>C	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802797	0.50315	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.19806	2.12;2.12	5.45	4.61	0.57282	CUB (5);	0.000000	0.64402	U	0.000001	T	0.47637	0.1456	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51260	-0.8728	10	0.56958	D	0.05	.	14.4772	0.67554	0.0712:0.0:0.9288:0.0	.	987;964	E9PD25;O43897	.;TLL1_HUMAN	P	964;987	ENSP00000061240:R964P;ENSP00000426082:R987P	ENSP00000061240:R964P	R	+	2	0	TLL1	167240113	1.000000	0.71417	0.989000	0.46669	0.004000	0.04260	6.751000	0.74893	1.295000	0.44724	0.655000	0.94253	CGA		PASS	0.423	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			47	44	47	44	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169337864	169337864	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:169337864C>G	ENST00000511577.1	-	20	2942	c.2695G>C	c.(2695-2697)Gct>Cct	p.A899P	DDX60L_ENST00000505890.1_Missense_Mutation_p.A899P|DDX60L_ENST00000260184.7_Missense_Mutation_p.A899P			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	899	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.A899P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTATGGTAGCTGAAAGAACC	0.358																																						uc003irq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2695-2697)GCT>CCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							96.0	94.0	94.0					4																	169337864		1850	4127	5977	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169337864C>G	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2695G>C	4.37:g.169337864C>G	ENSP00000422423:p.Ala899Pro					DDX60L_uc003irr.1_Missense_Mutation_p.A899P|DDX60L_uc003irs.1_Missense_Mutation_p.A594P	p.A899P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	20	2916	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	899			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2695G>C		.	.	.	.	.	.	.	.	.	.	C	15.80	2.940318	0.52972	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	D;D;T;T	0.89270	-2.49;-2.49;-0.75;-0.75	3.27	3.27	0.37495	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.37857	U	0.001917	D	0.94785	0.8316	M	0.90483	3.12	0.30685	N	0.751957	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92689	0.6165	10	0.87932	D	0	.	12.6391	0.56698	0.0:1.0:0.0:0.0	.	899;899;899	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	P	899;899;899;595	ENSP00000260184:A899P;ENSP00000422423:A899P;ENSP00000422202:A899P;ENSP00000421026:A595P	ENSP00000260184:A899P	A	-	1	0	DDX60L	169574439	0.955000	0.32602	0.218000	0.23776	0.620000	0.37586	2.058000	0.41374	1.527000	0.49086	0.467000	0.42956	GCT		PASS	0.358	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		18	41	18	41	---	---	---	---
GALNTL6	442117	broad.mit.edu	37	4	173150831	173150831	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:173150831G>T	ENST00000506823.1	+	3	820	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W	GALNTL6_ENST00000508122.1_Missense_Mutation_p.G38W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	55					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G55W(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCTGGGAGATGGGCAATTCTA	0.448																																						uc003isv.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(163-165)GGG>TGG		N-acetylgalactosaminyltransferase-like 6							116.0	101.0	106.0					4																	173150831		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173150831G>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.163G>T	4.37:g.173150831G>T	ENSP00000423313:p.Gly55Trp						p.G55W	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			3	899	+			55			Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.163G>T	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949917	0.73787	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.58210	0.45;0.35	5.73	5.73	0.89815	.	0.000000	0.36854	N	0.002372	T	0.44498	0.1296	N	0.22421	0.69	0.44852	D	0.997869	D	0.53885	0.963	B	0.42522	0.39	T	0.50482	-0.8823	10	0.72032	D	0.01	.	18.4644	0.90750	0.0:0.0:1.0:0.0	.	55	Q49A17	GLTL6_HUMAN	W	55;55;38	ENSP00000423313:G55W;ENSP00000423827:G38W	ENSP00000385382:G55W	G	+	1	0	GALNTL6	173387406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.995000	0.70631	2.688000	0.91661	0.650000	0.86243	GGG		PASS	0.448	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		15	18	15	18	---	---	---	---
LINC01098	285501	broad.mit.edu	37	4	178897011	178897011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:178897011G>T	ENST00000507870.1	+	5	676	c.214G>T	c.(214-216)Gga>Tga	p.G72*															p.G72*(2)		lung(8)|prostate(1)	9						CTGGGGCACGGGAAAGGGGTT	0.408																																						uc010iru.2																			2	Substitution - Nonsense(2)		lung(2)		0								Homo sapiens cDNA clone IMAGE:4828874.							203.0	207.0	206.0					4																	178897011		1874	4099	5973	SO:0001587	stop_gained	285501							g.chr4:178897011G>T																												ENST00000507870.1:c.214G>T	4.37:g.178897011G>T	ENSP00000421352:p.Gly72*							NR_028342					all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)	5		+		all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)							RNA	SNP	ENST00000507870.1	37	c.680G>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.338463	0.81911	.	.	ENSG00000231171	ENST00000507870	.	.	.	4.08	-3.9	0.04181	.	.	.	.	.	.	.	.	.	.	.	0.45690	A	0.998601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.411	0.21690	0.6034:0.0:0.2591:0.1375	.	.	.	.	X	72	.	.	G	+	1	0	RP11-389E17.1	179134005	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.846000	0.04336	-1.112000	0.02984	-0.143000	0.13931	GGA		PASS	0.408	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1			8	77	8	77	---	---	---	---
ING2	3622	broad.mit.edu	37	4	184431872	184431872	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:184431872G>C	ENST00000302327.3	+	2	812	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	ING2_ENST00000434682.2_Missense_Mutation_p.E164Q	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	204					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.E204Q(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTCACCTGTTGAGTTTGCAAT	0.418																																						uc003ivs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(610-612)GAG>CAG		inhibitor of growth family, member 2							102.0	95.0	97.0					4																	184431872		2203	4300	6503	SO:0001583	missense	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184431872G>C	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.610G>C	4.37:g.184431872G>C	ENSP00000307183:p.Glu204Gln					ING2_uc011ckk.1_Missense_Mutation_p.E164Q	p.E204Q	NM_001564	NP_001555	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	739	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	204					B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	c.610G>C	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259321	0.39995	.	.	ENSG00000168556	ENST00000302327;ENST00000434682	D;D	0.85171	-1.95;-1.95	5.55	5.55	0.83447	Zinc finger, FYVE/PHD-type (1);	0.176499	0.51477	D	0.000089	D	0.82756	0.5106	L	0.38175	1.15	0.43029	D	0.994596	B;D	0.52996	0.079;0.957	B;P	0.46850	0.047;0.529	D	0.84899	0.0841	10	0.72032	D	0.01	-13.32	15.2043	0.73165	0.0:0.1401:0.8599:0.0	.	164;204	B6ZDS1;Q9H160	.;ING2_HUMAN	Q	204;164	ENSP00000307183:E204Q;ENSP00000412586:E164Q	ENSP00000307183:E204Q	E	+	1	0	ING2	184668866	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.311000	0.78958	2.885000	0.99019	0.655000	0.94253	GAG		PASS	0.418	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		18	11	18	11	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187549470	187549470	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:187549470C>T	ENST00000441802.2	-	9	4857	c.4648G>A	c.(4648-4650)Gtc>Atc	p.V1550I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1550	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1550I(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGACATTGACCACAATCCTT	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(4648-4650)GTC>ATC		FAT tumor suppressor 1 precursor							64.0	65.0	65.0					4																	187549470		2059	4207	6266	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549470C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4648G>A	4.37:g.187549470C>T	ENSP00000406229:p.Val1550Ile	HNSCC(5;0.00058)					p.V1550I	NM_005245	NP_005236	Q14517	FAT1_HUMAN			9	4836	-			1550			Extracellular (Potential).|Cadherin 13.			Missense_Mutation	SNP	ENST00000441802.2	37	c.4648G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	1.496	-0.553442	0.03996	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.39997	1.05	5.36	3.66	0.41972	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.238593	0.42964	N	0.000639	T	0.16428	0.0395	N	0.03948	-0.315	0.38192	D	0.939922	B	0.19817	0.039	B	0.25140	0.058	T	0.17899	-1.0354	10	0.02654	T	1	.	8.3225	0.32136	0.0:0.6468:0.0:0.3532	.	1550	Q14517	FAT1_HUMAN	I	1550;1549	ENSP00000406229:V1550I	ENSP00000260147:V1549I	V	-	1	0	FAT1	187786464	0.081000	0.21417	0.009000	0.14445	0.107000	0.19398	0.527000	0.22987	0.854000	0.35336	-0.251000	0.11542	GTC		PASS	0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	13	11	13	---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924664	188924664	+	Missense_Mutation	SNP	C	C	A	rs376853725		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr4:188924664C>A	ENST00000326866.4	+	4	1111	c.703C>A	c.(703-705)Cat>Aat	p.H235N	ZFP42_ENST00000509524.1_Missense_Mutation_p.H235N	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	235					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H235N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACTAAAGAGACATTTCCTGGT	0.507																																						uc003izg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(703-705)CAT>AAT		zinc finger protein 42							107.0	113.0	111.0					4																	188924664		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924664C>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.703C>A	4.37:g.188924664C>A	ENSP00000317686:p.His235Asn					ZFP42_uc003izh.1_Missense_Mutation_p.H235N|ZFP42_uc003izi.1_Missense_Mutation_p.H235N	p.H235N	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	948	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	235			C2H2-type 2.		D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.703C>A	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810961	0.70797	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	D;D	0.86865	-2.18;-2.18	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	M	0.93106	3.38	0.33191	D	0.5509	D	0.89917	1.0	D	0.81914	0.995	D	0.95621	0.8681	10	0.87932	D	0	.	10.5007	0.44804	0.0:0.9042:0.0:0.0958	.	235	Q96MM3	ZFP42_HUMAN	N	235	ENSP00000317686:H235N;ENSP00000424662:H235N	ENSP00000317686:H235N	H	+	1	0	ZFP42	189161658	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	5.709000	0.68384	1.445000	0.47624	0.655000	0.94253	CAT		PASS	0.507	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		5	44	5	44	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5182170	5182170	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:5182170G>T	ENST00000274181.7	+	4	653	c.515G>T	c.(514-516)cGa>cTa	p.R172L	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R172L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	172					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R172L(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCATGATACGAACAGAAGAG	0.463																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(514-516)CGA>CTA		ADAM metallopeptidase with thrombospondin type 1							77.0	76.0	76.0					5																	5182170		1868	4109	5977	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5182170G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.515G>T	5.37:g.5182170G>T	ENSP00000274181:p.Arg172Leu					ADAMTS16_uc003jdk.1_Missense_Mutation_p.R172L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R172L	p.R172L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			4	653	+			172					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.515G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345136	0.82022	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.07216	3.21;3.21	5.37	5.37	0.77165	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.04650	-1.0936	10	0.46703	T	0.11	.	17.9034	0.88911	0.0:0.0:1.0:0.0	.	172;172;172	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	L	172	ENSP00000274181:R172L;ENSP00000421631:R172L	ENSP00000274181:R172L	R	+	2	0	ADAMTS16	5235170	1.000000	0.71417	0.923000	0.36655	0.966000	0.64601	5.476000	0.66793	2.510000	0.84645	0.650000	0.86243	CGA		PASS	0.463	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		52	105	52	105	---	---	---	---
SRD5A1	6715	broad.mit.edu	37	5	6651984	6651984	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:6651984G>C	ENST00000274192.5	+	2	557	c.323G>C	c.(322-324)gGa>gCa	p.G108A	SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Intron	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	108					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)	p.G108A(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	CTGATGCGAGGAGGAAAGCCT	0.373																																						uc003jdw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GGA>GCA		steroid-5-alpha-reductase 1	Dutasteride(DB01126)|Finasteride(DB01216)						152.0	135.0	141.0					5																	6651984		2203	4300	6503	SO:0001583	missense	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6651984G>C	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.323G>C	5.37:g.6651984G>C	ENSP00000274192:p.Gly108Ala					SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Intron	p.G108A	NM_001047	NP_001038	P18405	S5A1_HUMAN			2	513	+			108					B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	ENST00000274192.5	37	c.323G>C	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753634	0.89753	.	.	ENSG00000145545	ENST00000274192	T	0.21734	1.99	5.7	5.7	0.88788	.	0.316296	0.33327	N	0.005030	T	0.31513	0.0799	M	0.76170	2.325	0.80722	D	1	B	0.25390	0.125	B	0.26864	0.074	T	0.08006	-1.0743	10	0.66056	D	0.02	-21.8157	18.6098	0.91281	0.0:0.0:1.0:0.0	.	108	P18405	S5A1_HUMAN	A	108	ENSP00000274192:G108A	ENSP00000274192:G108A	G	+	2	0	SRD5A1	6704984	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	5.375000	0.66173	2.683000	0.91414	0.650000	0.86243	GGA		PASS	0.373	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		31	71	31	71	---	---	---	---
SRD5A1	6715	broad.mit.edu	37	5	6668313	6668313	+	Splice_Site	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:6668313A>T	ENST00000274192.5	+	5	947		c.e5-1		SRD5A1_ENST00000537411.1_Splice_Site|SRD5A1_ENST00000538824.1_Splice_Site|CTD-2044J15.2_ENST00000606434.1_lincRNA	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)						androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)	p.?(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TTTTTTTCTTAGGTGGTACCT	0.279																																						uc003jdw.2																			1	Unknown(1)		lung(1)		0						c.e5-2		steroid-5-alpha-reductase 1	Dutasteride(DB01126)|Finasteride(DB01216)						47.0	53.0	51.0					5																	6668313		2199	4291	6490	SO:0001630	splice_region_variant	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6668313A>T	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.714-1A>T	5.37:g.6668313A>T						SRD5A1_uc011cml.1_Splice_Site|SRD5A1_uc011cmm.1_Splice_Site_p.E191_splice	p.E238_splice	NM_001047	NP_001038	P18405	S5A1_HUMAN			5	904	+								B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Splice_Site	SNP	ENST00000274192.5	37	c.714_splice	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207217	0.79127	.	.	ENSG00000145545	ENST00000274192;ENST00000538824	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8525	0.70309	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRD5A1	6721313	1.000000	0.71417	0.953000	0.39169	0.919000	0.55068	7.050000	0.76620	2.145000	0.66743	0.533000	0.62120	.		PASS	0.279	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047	Intron	20	45	20	45	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7709423	7709423	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:7709423T>A	ENST00000338316.4	+	10	1590	c.1501T>A	c.(1501-1503)Tgg>Agg	p.W501R	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.W321R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	501					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.W501R(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTTGGAGTCCTGGGGGGCAGC	0.607																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1501-1503)TGG>AGG		adenylate cyclase 2							81.0	64.0	69.0					5																	7709423		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7709423T>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1501T>A	5.37:g.7709423T>A	ENSP00000342952:p.Trp501Arg					ADCY2_uc011cmo.1_Missense_Mutation_p.W321R	p.W501R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			10	1568	+			501			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1501T>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	t	31	5.074736	0.94000	.	.	ENSG00000078295	ENST00000338316;ENST00000537121	D;D	0.95342	-3.68;-3.68	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	M	0.76838	2.35	0.80722	D	1	P;P	0.48016	0.858;0.904	P;P	0.54664	0.703;0.758	D	0.96787	0.9579	10	0.87932	D	0	.	15.8247	0.78690	0.0:0.0:0.0:1.0	.	321;501	B7Z2C1;Q08462	.;ADCY2_HUMAN	R	501;321	ENSP00000342952:W501R;ENSP00000444803:W321R	ENSP00000342952:W501R	W	+	1	0	ADCY2	7762423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.791000	0.85805	2.137000	0.66172	0.456000	0.33151	TGG		PASS	0.607	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		13	25	13	25	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7826896	7826896	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:7826896T>A	ENST00000338316.4	+	25	3277	c.3188T>A	c.(3187-3189)aTc>aAc	p.I1063N	ADCY2_ENST00000537121.1_Missense_Mutation_p.I883N	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1063					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.I1063N(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGAGGAATAATCAACGTGAAA	0.522																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(3187-3189)ATC>AAC		adenylate cyclase 2							115.0	99.0	105.0					5																	7826896		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7826896T>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3188T>A	5.37:g.7826896T>A	ENSP00000342952:p.Ile1063Asn					ADCY2_uc011cmo.1_Missense_Mutation_p.I883N|ADCY2_uc010itm.1_Missense_Mutation_p.I259N	p.I1063N	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			25	3255	+			1063			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.3188T>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331183	0.81690	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	D;D	0.82619	-1.63;-1.63	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	M	0.93808	3.46	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94944	0.8094	10	0.87932	D	0	.	15.5055	0.75735	0.0:0.0:0.0:1.0	.	883;1063	B7Z2C1;Q08462	.;ADCY2_HUMAN	N	1063;175;896;883	ENSP00000342952:I1063N;ENSP00000444803:I883N	ENSP00000342952:I1063N	I	+	2	0	ADCY2	7879896	1.000000	0.71417	0.989000	0.46669	0.774000	0.43823	7.799000	0.85936	2.061000	0.61500	0.482000	0.46254	ATC		PASS	0.522	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		36	100	36	100	---	---	---	---
TAS2R1	50834	broad.mit.edu	37	5	9629796	9629796	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:9629796A>T	ENST00000382492.2	-	1	667	c.349T>A	c.(349-351)Tgg>Agg	p.W117R	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	117					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.W117R(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ATCTTCAACCAGATGAAGAGT	0.438																																						uc003jem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(349-351)TGG>AGG		taste receptor T2R1							40.0	42.0	41.0					5																	9629796		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629796A>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.349T>A	5.37:g.9629796A>T	ENSP00000371932:p.Trp117Arg						p.W117R	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	668	-			117			Cytoplasmic (Potential).		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.349T>A	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990401	0.35131	.	.	ENSG00000169777	ENST00000382492	T	0.01258	5.09	5.32	4.14	0.48551	.	0.378300	0.27130	N	0.020781	T	0.07999	0.0200	M	0.83118	2.625	0.34058	D	0.656929	D	0.89917	1.0	D	0.97110	1.0	T	0.05784	-1.0864	9	.	.	.	.	9.5973	0.39582	0.917:0.0:0.083:0.0	.	117	Q9NYW7	TA2R1_HUMAN	R	117	ENSP00000371932:W117R	.	W	-	1	0	TAS2R1	9682796	0.993000	0.37304	0.784000	0.31847	0.140000	0.21249	1.711000	0.37930	1.017000	0.39495	0.533000	0.62120	TGG		PASS	0.438	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			15	30	15	30	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16689976	16689976	+	Missense_Mutation	SNP	C	C	A	rs145872653		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:16689976C>A	ENST00000513610.1	-	28	4307	c.3853G>T	c.(3853-3855)Gat>Tat	p.D1285Y	MYO10_ENST00000515803.1_Missense_Mutation_p.D624Y|MYO10_ENST00000427430.2_Missense_Mutation_p.D642Y|MYO10_ENST00000274203.9_Missense_Mutation_p.D642Y|MYO10_ENST00000505695.1_Missense_Mutation_p.D624Y	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1285	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.D1285Y(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						AAAGTCCTATCGGCCATAATG	0.483																																						uc003jft.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3853-3855)GAT>TAT		myosin X							173.0	172.0	172.0					5																	16689976		2095	4223	6318	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16689976C>A	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.3853G>T	5.37:g.16689976C>A	ENSP00000421280:p.Asp1285Tyr					MYO10_uc011cnc.1_Missense_Mutation_p.D164Y|MYO10_uc011cnd.1_Missense_Mutation_p.D642Y|MYO10_uc011cne.1_Missense_Mutation_p.D642Y|MYO10_uc010itx.2_Missense_Mutation_p.D908Y	p.D1285Y	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			28	4321	-			1285			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3853G>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695466	0.48202	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.31167	0.0788	L	0.60067	1.865	0.58432	D	0.999992	D;D;D	0.71674	0.981;0.995;0.998	P;P;D	0.67900	0.674;0.865;0.954	T	0.00855	-1.1539	9	0.66056	D	0.02	.	12.4059	0.55439	0.0:0.9225:0.0:0.0775	.	164;926;1285	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	Y	1285;624;642;624;642	ENSP00000421280:D1285Y;ENSP00000425051:D624Y;ENSP00000274203:D642Y;ENSP00000421170:D624Y;ENSP00000391106:D642Y	ENSP00000274203:D642Y	D	-	1	0	MYO10	16742976	1.000000	0.71417	0.474000	0.27266	0.036000	0.12997	6.091000	0.71406	2.603000	0.88011	0.655000	0.94253	GAT		PASS	0.483	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		33	71	33	71	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975227	21975227	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:21975227C>A	ENST00000382254.1	-	6	1585	c.499G>T	c.(499-501)Gct>Tct	p.A167S	CDH12_ENST00000504376.2_Missense_Mutation_p.A167S|CDH12_ENST00000522262.1_Missense_Mutation_p.A167S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	167	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A167S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGAACAGTAGCAACATAAGGT	0.398										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(499-501)GCT>TCT		cadherin 12, type 2 preproprotein							103.0	103.0	103.0					5																	21975227		2052	3904	5956	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975227C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.499G>T	5.37:g.21975227C>A	ENSP00000371689:p.Ala167Ser	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.A167S|CDH12_uc003jgk.2_Missense_Mutation_p.A167S	p.A167S	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	957	-			167			Extracellular (Potential).|Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.499G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723494	0.89298	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.62105	0.5;0.5;0.05	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	L	0.52364	1.645	0.58432	D	0.999999	D;D	0.69078	0.997;0.978	D;D	0.80764	0.946;0.994	T	0.77365	-0.2615	10	0.62326	D	0.03	.	18.6264	0.91340	0.0:1.0:0.0:0.0	.	167;167	B7Z2U6;P55289	.;CAD12_HUMAN	S	167	ENSP00000423577:A167S;ENSP00000371689:A167S;ENSP00000428786:A167S	ENSP00000371689:A167S	A	-	1	0	CDH12	22010984	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.397000	0.79903	2.414000	0.81942	0.484000	0.47621	GCT		PASS	0.398	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		38	95	38	95	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35867468	35867468	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:35867468C>T	ENST00000303115.3	+	3	411	c.282C>T	c.(280-282)atC>atT	p.I94I	IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000343305.4_Silent_p.I94I|IL7R_ENST00000511982.1_Silent_p.I94I|IL7R_ENST00000506850.1_Silent_p.I94I	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	94					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.I94I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TATATTTCATCGAGACAAAGA	0.388			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(280-282)ATC>ATT		interleukin 7 receptor precursor							89.0	92.0	91.0					5																	35867468		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35867468C>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.282C>T	5.37:g.35867468C>T						IL7R_uc011coo.1_Silent_p.I94I|IL7R_uc011cop.1_RNA	p.I94I	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		3	371	+	all_lung(31;0.00015)		94			Extracellular (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.282C>T	CCDS3911.1																																																																																				PASS	0.388	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			31	68	31	68	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37000524	37000524	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:37000524A>G	ENST00000282516.8	+	12	3853	c.3354A>G	c.(3352-3354)gaA>gaG	p.E1118E	NIPBL_ENST00000448238.2_Silent_p.E1118E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1118					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)	p.E1118E(2)		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)			GGGAATATGAAGAGCGTGACA	0.418																																						uc003jkl.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(3352-3354)GAA>GAG		delangin isoform A							132.0	130.0	131.0					5																	37000524		2203	4300	6503	SO:0001819	synonymous_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.chr5:37000524A>G	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.3354A>G	5.37:g.37000524A>G						NIPBL_uc003jkk.3_Silent_p.E1118E	p.E1118E	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)		12	3853	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1118					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.3354A>G	CCDS3920.1																																																																																				PASS	0.418	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		65	16	65	16	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41057273	41057273	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:41057273C>T	ENST00000399564.4	-	9	1307	c.857G>A	c.(856-858)aGa>aAa	p.R286K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	286								p.R286K(1)									CTCTGGAGCTCTGCAGATCTG	0.413																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(856-858)AGA>AAA		HEAT repeat family member 7B2							67.0	63.0	64.0					5																	41057273		1833	4099	5932	SO:0001583	missense	133558						binding	g.chr5:41057273C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.857G>A	5.37:g.41057273C>T	ENSP00000382476:p.Arg286Lys					HEATR7B2_uc003jmi.3_Intron	p.R286K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			9	1347	-			286			HEAT 3.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.857G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	2.004	-0.428667	0.04701	.	.	ENSG00000171495	ENST00000399564	T	0.04551	3.6	5.1	1.34	0.21922	Armadillo-type fold (1);	0.593558	0.17043	N	0.189224	T	0.02267	0.0070	N	0.15975	0.35	0.19945	N	0.999946	B	0.02656	0.0	B	0.04013	0.001	T	0.47898	-0.9081	10	0.06099	T	0.92	.	5.9797	0.19401	0.0:0.5102:0.0:0.4898	.	286	Q7Z745	HTRB2_HUMAN	K	286	ENSP00000382476:R286K	ENSP00000382476:R286K	R	-	2	0	HEATR7B2	41093030	0.147000	0.22687	0.998000	0.56505	0.625000	0.37756	0.075000	0.14686	0.419000	0.25927	0.561000	0.74099	AGA		PASS	0.413	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		31	17	31	17	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45303823	45303824	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:45303823_45303824CC>AG	ENST00000303230.4	-	6	1552_1553	c.1495_1496GG>CT	c.(1495-1497)GGa>CTa	p.G499L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	499					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.G499V(2)|p.G499L(1)|p.G499R(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						GATATAATCTCCAGGTTGAAAC	0.411																																						uc003jok.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(1495-1497)GGA>GTA|c.(1495-1497)GGA>CGA		hyperpolarization activated cyclic																																				SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303823C>A|g.chr5:45303824C>G	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.1495_1496delinsAG	5.37:g.45303823_45303824delinsAG	ENSP00000307342:p.Gly499Leu						p.G499V|p.G499R	NM_021072	NP_066550	O60741	HCN1_HUMAN			6	1521|1520	-			499			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1496G>T|c.1495G>C	CCDS3952.1																																																																																				PASS	0.411	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		40|41	69|70	40	69	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45462083	45462083	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:45462083G>A	ENST00000303230.4	-	3	933	c.876C>T	c.(874-876)gcC>gcT	p.A292A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	292					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.A292A(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						CCACTGCACTGGCGAGATCAT	0.388																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(874-876)GCC>GCT		hyperpolarization activated cyclic							66.0	65.0	65.0					5																	45462083		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45462083G>A	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.876C>T	5.37:g.45462083G>A							p.A292A	NM_021072	NP_066550	O60741	HCN1_HUMAN			3	901	-			292			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.876C>T	CCDS3952.1																																																																																				PASS	0.388	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		15	40	15	40	---	---	---	---
FST	10468	broad.mit.edu	37	5	52780903	52780903	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:52780903G>T	ENST00000256759.3	+	5	1181	c.798G>T	c.(796-798)cgG>cgT	p.R266R	FST_ENST00000396947.3_Silent_p.R266R	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	266	Follistatin-like 3.|Kazal-like 3. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)	p.R266R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GGAGAGGCCGGTGTTCCCTCT	0.488																																						uc003jpd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(796-798)CGG>CGT		follistatin isoform FST344 precursor							227.0	206.0	213.0					5																	52780903		2203	4300	6503	SO:0001819	synonymous_variant	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52780903G>T	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.798G>T	5.37:g.52780903G>T						FST_uc003jpc.2_Silent_p.R266R	p.R266R	NM_013409	NP_037541	P19883	FST_HUMAN			5	825	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	266			Kazal-like 3.|Follistatin-like 3.		B5BU94|Q9BTH0	Silent	SNP	ENST00000256759.3	37	c.798G>T	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424525	0.25639	.	.	ENSG00000134363	ENST00000497789	.	.	.	5.75	2.92	0.33932	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50013	-0.8877	4	.	.	.	-24.1066	8.3803	0.32468	0.135:0.3705:0.4946:0.0	.	.	.	.	V	51	.	.	G	+	2	0	FST	52816660	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.520000	0.22878	0.321000	0.23259	0.655000	0.94253	GGT		PASS	0.488	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		24	36	24	36	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70837292	70837292	+	Missense_Mutation	SNP	A	A	T	rs529743593		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:70837292A>T	ENST00000358731.4	+	29	6297	c.6034A>T	c.(6034-6036)Ata>Tta	p.I2012L	BDP1_ENST00000380675.2_Missense_Mutation_p.I148L	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2012					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I2012L(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGGAGTATGTATAATTCCTCA	0.279																																						uc003kbp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(6034-6036)ATA>TTA		transcription factor-like nuclear regulator							79.0	72.0	75.0					5																	70837292		1808	4072	5880	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70837292A>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6034A>T	5.37:g.70837292A>T	ENSP00000351575:p.Ile2012Leu					BDP1_uc003kbo.2_Missense_Mutation_p.I2012L|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	p.I2012L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	29	6297	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2012					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.6034A>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	7.246	0.602322	0.13939	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.12879	2.64;2.64	5.6	0.733	0.18289	.	0.686003	0.13418	N	0.389381	T	0.11324	0.0276	L	0.43152	1.355	0.09310	N	1	B;B	0.29988	0.102;0.264	B;B	0.28465	0.054;0.09	T	0.21075	-1.0256	10	0.59425	D	0.04	.	7.384	0.26872	0.4737:0.0:0.5263:0.0	.	2012;2012	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	L	2012;1560;148;148	ENSP00000351575:I2012L;ENSP00000370050:I148L	ENSP00000351575:I2012L	I	+	1	0	BDP1	70873048	0.994000	0.37717	0.009000	0.14445	0.033000	0.12548	0.485000	0.22324	0.049000	0.15920	-0.467000	0.05162	ATA		PASS	0.279	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		9	37	9	37	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71493547	71493547	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:71493547A>T	ENST00000296755.7	+	5	4663	c.4365A>T	c.(4363-4365)caA>caT	p.Q1455H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1455					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.Q1455H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTCTTTACCAAGACAAACAGG	0.418																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(4363-4365)CAA>CAT		microtubule-associated protein 1B							55.0	53.0	54.0					5																	71493547		2203	4298	6501	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493547A>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4365A>T	5.37:g.71493547A>T	ENSP00000296755:p.Gln1455His					MAP1B_uc010iyw.1_Missense_Mutation_p.Q1472H|MAP1B_uc010iyx.1_Missense_Mutation_p.Q1329H|MAP1B_uc010iyy.1_Missense_Mutation_p.Q1329H	p.Q1455H	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4606	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1455					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4365A>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169285	0.38315	.	.	ENSG00000131711	ENST00000296755	T	0.03607	3.87	5.54	3.22	0.36961	.	0.290266	0.29916	N	0.010863	T	0.02688	0.0081	N	0.14661	0.345	0.36420	D	0.864234	B;B	0.33448	0.412;0.412	B;B	0.34722	0.188;0.188	T	0.56312	-0.8000	10	0.33141	T	0.24	-4.0951	10.1239	0.42639	0.8761:0.0:0.1239:0.0	.	1329;1455	A2BDK6;P46821	.;MAP1B_HUMAN	H	1455	ENSP00000296755:Q1455H	ENSP00000296755:Q1455H	Q	+	3	2	MAP1B	71529303	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.421000	0.34815	2.119000	0.64992	0.454000	0.30748	CAA		PASS	0.418	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		19	31	19	31	---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71756484	71756484	+	Silent	SNP	C	C	T	rs373809589		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:71756484C>T	ENST00000318442.5	-	2	1330	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	280					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.P280P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCACGCGTGCGGCTTGATCC	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19122	0.0		0.0	False		,,,				2504	0.0					uc003kce.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(838-840)CCG>CCA		zinc finger protein 366		C		0,4406		0,0,2203	126.0	117.0	120.0		840	0.5	1.0	5		120	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	ZNF366	NM_152625.1		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		280/745	71756484	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756484C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.840G>A	5.37:g.71756484C>T							p.P280P	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1026	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	280					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.840G>A	CCDS4015.1																																																																																				PASS	0.642	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			13	59	13	59	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79026607	79026607	+	Silent	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:79026607A>C	ENST00000446378.2	+	2	2050	c.2019A>C	c.(2017-2019)acA>acC	p.T673T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	673					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.T673T(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAACAGTTACACCAGAATACA	0.483																																						uc003kgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(2017-2019)ACA>ACC		cardiomyopathy associated 5							51.0	48.0	49.0					5																	79026607		1922	4127	6049	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79026607A>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2019A>C	5.37:g.79026607A>C							p.T673T	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2091	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	673					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.2019A>C	CCDS47238.1																																																																																				PASS	0.483	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	24	5	24	---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80559433	80559433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:80559433G>T	ENST00000424301.2	+	10	1376	c.1138G>T	c.(1138-1140)Gag>Tag	p.E380*	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Nonsense_Mutation_p.E380*|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Nonsense_Mutation_p.E380*|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	380	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.E380*(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGGTCGATCAGAGGTAACGTC	0.453																																						uc003khc.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1138-1140)GAG>TAG		sarcomeric mitochondrial creatine kinase	Creatine(DB00148)						111.0	103.0	106.0					5																	80559433		2203	4300	6503	SO:0001587	stop_gained	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80559433G>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1138G>T	5.37:g.80559433G>T	ENSP00000404203:p.Glu380*					RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Nonsense_Mutation_p.E380*|CKMT2_uc003khd.3_Nonsense_Mutation_p.E380*|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	p.E380*	NM_001825	NP_001816	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	10	1380	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	380			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Nonsense_Mutation	SNP	ENST00000424301.2	37	c.1138G>T	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	38	7.274712	0.98179	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.5847	19.9625	0.97256	0.0:0.0:1.0:0.0	.	.	.	.	X	380	.	ENSP00000254035:E380X	E	+	1	0	CKMT2	80595189	1.000000	0.71417	0.974000	0.42286	0.941000	0.58515	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GAG		PASS	0.453	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		4	59	4	59	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89924618	89924618	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:89924618G>A	ENST00000405460.2	+	8	1574	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	493					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R493Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATACAATACGAGGAGGTGCA	0.428																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(1477-1479)CGA>CAA		G protein-coupled receptor 98 precursor							76.0	78.0	78.0					5																	89924618		1991	4160	6151	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89924618G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1478G>A	5.37:g.89924618G>A	ENSP00000384582:p.Arg493Gln					GPR98_uc003kjt.2_5'UTR	p.R493Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	8	1574	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	493			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1478G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	0.764	-0.768184	0.02974	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27256	1.68	5.82	-7.86	0.01187	.	0.517494	0.20760	N	0.086192	T	0.07143	0.0181	N	0.02960	-0.455	0.33181	D	0.549589	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	10	0.09843	T	0.71	.	12.5897	0.56436	0.7244:0.0:0.1932:0.0824	.	493	Q8WXG9	GPR98_HUMAN	Q	493	ENSP00000384582:R493Q	ENSP00000296619:R493Q	R	+	2	0	GPR98	89960374	0.046000	0.20272	0.005000	0.12908	0.186000	0.23388	0.086000	0.14935	-1.627000	0.01550	-0.827000	0.03088	CGA		PASS	0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		23	19	23	19	---	---	---	---
MCTP1	79772	broad.mit.edu	37	5	94050558	94050558	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:94050558A>G	ENST00000515393.1	-	20	2643	c.2644T>C	c.(2644-2646)Tat>Cat	p.Y882H	MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000312216.8_Missense_Mutation_p.Y661H|MCTP1_ENST00000429576.2_Missense_Mutation_p.Y575H|MCTP1_ENST00000505078.1_Missense_Mutation_p.Y398H|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	882					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.Y882H(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGGATGGCATAGATTTTATTT	0.378																																						uc003kkx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2644-2646)TAT>CAT		multiple C2 domains, transmembrane 1 isoform L							182.0	181.0	181.0					5																	94050558		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94050558A>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2644T>C	5.37:g.94050558A>G	ENSP00000424126:p.Tyr882His					MCTP1_uc003kkv.2_Missense_Mutation_p.Y661H|MCTP1_uc003kkw.2_Missense_Mutation_p.Y575H|MCTP1_uc003kku.2_Missense_Mutation_p.Y398H	p.Y882H	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	20	2644	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	882					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.2644T>C	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543353	0.65198	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.80033	-1.33;-1.02;-0.29;-1.25;-1.02	5.8	5.8	0.92144	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	L	0.37630	1.12	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.996;0.974	D	0.83940	0.0311	10	0.34782	T	0.22	-11.5699	16.1506	0.81618	1.0:0.0:0.0:0.0	.	882;575;661	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	H	882;575;398;661;602	ENSP00000424126:Y882H;ENSP00000391639:Y575H;ENSP00000426417:Y398H;ENSP00000308957:Y661H;ENSP00000423410:Y602H	ENSP00000308957:Y661H	Y	-	1	0	MCTP1	94076314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.157000	0.77461	2.206000	0.71126	0.528000	0.53228	TAT		PASS	0.378	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		18	83	18	83	---	---	---	---
PAM	5066	broad.mit.edu	37	5	102363902	102363902	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:102363902A>T	ENST00000438793.3	+	24	3173	c.2703A>T	c.(2701-2703)aaA>aaT	p.K901N	PAM_ENST00000379787.4_Intron|PAM_ENST00000346918.2_Intron|PAM_ENST00000348126.2_Missense_Mutation_p.K794N|PAM_ENST00000274392.9_Missense_Mutation_p.K803N|PAM_ENST00000304400.7_Missense_Mutation_p.K902N|PAM_ENST00000455264.2_Missense_Mutation_p.K833N	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	901					central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.K902N(1)|p.K833N(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CTGAACACAAACTCGAGACGA	0.398																																						uc003knw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2701-2703)AAA>AAT		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						162.0	154.0	156.0					5																	102363902		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102363902A>T	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2703A>T	5.37:g.102363902A>T	ENSP00000396493:p.Lys901Asn					PAM_uc003kns.2_Missense_Mutation_p.K794N|PAM_uc003knt.2_Missense_Mutation_p.K902N|PAM_uc003knu.2_Missense_Mutation_p.K833N|PAM_uc003knv.2_Intron|PAM_uc011cuz.1_Missense_Mutation_p.K803N|PAM_uc003knz.2_Intron	p.K901N	NM_000919	NP_000910	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	24	3076	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	901			Cytoplasmic (Potential).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.2703A>T	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.19|15.19	2.758639|2.758639	0.49468|0.49468	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	T;T;T;T;T|.	0.64618|.	0.78;0.63;0.83;-0.11;0.7|.	5.8|5.8	3.41|3.41	0.39046|0.39046	.|.	0.261528|.	0.43416|.	D|.	0.000562|.	T|T	0.50769|0.50769	0.1635|0.1635	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	B;B;B;B;D|.	0.62365|.	0.433;0.44;0.284;0.433;0.991|.	B;B;B;B;P|.	0.54026|.	0.283;0.147;0.128;0.283;0.74|.	T|T	0.40251|0.40251	-0.9573|-0.9573	10|5	0.87932|.	D|.	0|.	.|.	10.1234|10.1234	0.42634|0.42634	0.8629:0.0:0.1371:0.0|0.8629:0.0:0.1371:0.0	.|.	803;901;833;902;794|.	F8WE90;P19021;P19021-3;P19021-5;P19021-2|.	.;AMD_HUMAN;.;.;.|.	N|S	901;794;902;803;833|607	ENSP00000396493:K901N;ENSP00000314638:K794N;ENSP00000306100:K902N;ENSP00000274392:K803N;ENSP00000403461:K833N|.	ENSP00000274392:K803N|.	K|T	+|+	3|1	2|0	PAM|PAM	102391801|102391801	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.706000|0.706000	0.40770|0.40770	2.849000|2.849000	0.48286|0.48286	1.036000|1.036000	0.39998|0.39998	0.460000|0.460000	0.39030|0.39030	AAA|ACT		PASS	0.398	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		27	25	27	25	---	---	---	---
TNFAIP8	25816	broad.mit.edu	37	5	118728655	118728655	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:118728655G>T	ENST00000503646.1	+	3	864	c.176G>T	c.(175-177)aGg>aTg	p.R59M	TNFAIP8_ENST00000274456.6_Missense_Mutation_p.R49M|TNFAIP8_ENST00000504771.2_Missense_Mutation_p.R59M|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.R71M|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.R61M			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	59					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)	p.R59M(1)		ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		AGAGTGACCAGGGAGTACACC	0.433																																						uc003ksh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)AGG>ATG		tumor necrosis factor, alpha-induced protein 8							62.0	58.0	59.0					5																	118728655		2005	4189	6194	SO:0001583	missense	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728655G>T	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.176G>T	5.37:g.118728655G>T	ENSP00000421848:p.Arg59Met					TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.2_Missense_Mutation_p.R49M|TNFAIP8_uc011cwf.1_Missense_Mutation_p.R53M|TNFAIP8_uc003ksi.2_Missense_Mutation_p.R59M	p.R59M	NM_014350	NP_055165	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	3	864	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	59			Potential.		B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Missense_Mutation	SNP	ENST00000503646.1	37	c.176G>T	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503165	0.64298	.	.	ENSG00000145779	ENST00000274456;ENST00000388882;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.8	-0.421	0.12332	.	0.551782	0.18346	N	0.144006	T	0.36138	0.0956	L	0.39898	1.24	0.80722	D	1	P;P;P	0.50617	0.937;0.618;0.589	P;B;B	0.50860	0.652;0.388;0.346	T	0.24048	-1.0171	10	0.87932	D	0	-11.6943	10.8339	0.46675	0.4601:0.0:0.5399:0.0	.	71;59;49	B7Z713;O95379;O95379-3	.;TFIP8_HUMAN;.	M	49;27;71;59;59;61	ENSP00000274456:R49M;ENSP00000429432:R27M;ENSP00000427424:R71M;ENSP00000422245:R59M;ENSP00000421848:R59M;ENSP00000427160:R61M	ENSP00000274456:R49M	R	+	2	0	TNFAIP8	118756554	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	1.351000	0.34022	-0.068000	0.12953	0.655000	0.94253	AGG		PASS	0.433	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		21	12	21	12	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127681162	127681162	+	Missense_Mutation	SNP	G	G	T	rs145565243		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:127681162G>T	ENST00000508053.1	-	30	4078	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N	FBN2_ENST00000262464.4_Missense_Mutation_p.T1035N|FBN2_ENST00000508989.1_Missense_Mutation_p.T1002N			P35556	FBN2_HUMAN	fibrillin 2	1035	TB 5.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T1035N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCACACTCGGTGCCCCAAGC	0.602																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3103-3105)ACC>AAC		fibrillin 2 precursor							71.0	71.0	71.0					5																	127681162		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127681162G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3104C>A	5.37:g.127681162G>T	ENSP00000424571:p.Thr1035Asn					FBN2_uc003kuv.2_Missense_Mutation_p.T1002N	p.T1035N	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	24	3543	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1035			TB 5.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3104C>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090424	0.36855	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92858	-3.12;-3.12;-3.12	4.22	3.34	0.38264	Matrix fibril-associated (3);TGF-beta binding (1);	0.206597	0.31156	N	0.008158	D	0.89019	0.6596	L	0.31664	0.95	0.29316	N	0.867671	P;B	0.40515	0.719;0.04	P;B	0.46299	0.511;0.062	D	0.83589	0.0122	10	0.24483	T	0.36	.	15.153	0.72717	0.0:0.1421:0.8579:0.0	.	1002;1035	D6RJI3;P35556	.;FBN2_HUMAN	N	1035;1035;1002	ENSP00000262464:T1035N;ENSP00000424571:T1035N;ENSP00000425596:T1002N	ENSP00000262464:T1035N	T	-	2	0	FBN2	127709061	0.020000	0.18652	0.859000	0.33776	0.846000	0.48090	1.452000	0.35156	1.351000	0.45789	0.563000	0.77884	ACC		PASS	0.602	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		15	13	15	13	---	---	---	---
SHROOM1	134549	broad.mit.edu	37	5	132158542	132158542	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:132158542C>A	ENST00000378679.3	-	10	3309	c.2505G>T	c.(2503-2505)cgG>cgT	p.R835R	SHROOM1_ENST00000378676.1_Silent_p.R766R|SHROOM1_ENST00000319854.3_Silent_p.R830R|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	835					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)	p.R830R(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCCTGGGGGCCGCGCCGGGC	0.647																																						uc003kxx.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(2503-2505)CGG>CGT		shroom family member 1							33.0	34.0	34.0					5																	132158542		2200	4299	6499	SO:0001819	synonymous_variant	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158542C>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2505G>T	5.37:g.132158542C>A						SHROOM1_uc003kxy.1_Silent_p.R830R	p.R835R	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	3310	-			835					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	c.2505G>T	CCDS54902.1																																																																																				PASS	0.647	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		3	3	3	3	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140215673	140215673	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:140215673C>T	ENST00000525929.1	+	1	1705	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R569W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	569					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R569W(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCGCCTCGGGTGGGTGG	0.692																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1705-1707)CGG>TGG		protocadherin alpha 7 isoform 1 precursor							83.0	89.0	87.0					5																	140215673		2202	4298	6500	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215673C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1705C>T	5.37:g.140215673C>T	ENSP00000436426:p.Arg569Trp					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_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R569W	p.R569W	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1705	+			569			Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1705C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	4.052	0.007395	0.07866	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.64085	-0.08;-0.08	3.69	-7.38	0.01407	Cadherin-like (1);	0.808617	0.09411	U	0.805753	T	0.47967	0.1474	L	0.60455	1.87	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.10450	0.005;0.002	T	0.38929	-0.9638	10	0.46703	T	0.11	.	4.2187	0.10547	0.0984:0.5107:0.1702:0.2207	.	569;569	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	W	569	ENSP00000436426:R569W;ENSP00000367365:R569W	ENSP00000367365:R569W	R	+	1	2	PCDHA7	140195857	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.227000	0.01210	-1.687000	0.01437	0.313000	0.20887	CGG		PASS	0.692	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		37	41	37	41	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140552867	140552867	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:140552867G>T	ENST00000231137.3	+	1	625	c.451G>T	c.(451-453)Gca>Tca	p.A151S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	151	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A151S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAGGGGCGGCATTTCTCCT	0.448																																						uc003lit.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(451-453)GCA>TCA		protocadherin beta 7 precursor							52.0	55.0	54.0					5																	140552867		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552867G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.451G>T	5.37:g.140552867G>T	ENSP00000231137:p.Ala151Ser						p.A151S	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	625	+			151			Extracellular (Potential).|Cadherin 2.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.451G>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	0.198	-1.047325	0.01981	.	.	ENSG00000113212	ENST00000231137	T	0.48836	0.8	4.61	-1.63	0.08345	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.20455	0.0492	N	0.04508	-0.205	0.09310	N	1	B	0.17038	0.02	B	0.21360	0.034	T	0.29761	-1.0001	9	0.13853	T	0.58	.	7.165	0.25685	0.6234:0.23:0.1466:0.0	.	151	Q9Y5E2	PCDB7_HUMAN	S	151	ENSP00000231137:A151S	ENSP00000231137:A151S	A	+	1	0	PCDHB7	140533051	0.000000	0.05858	0.128000	0.21923	0.686000	0.39977	-0.644000	0.05415	-0.111000	0.12001	0.655000	0.94253	GCA		PASS	0.448	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		28	22	28	22	---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140731747	140731747	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:140731747C>A	ENST00000523390.1	+	1	1920	c.1920C>A	c.(1918-1920)gtC>gtA	p.V640V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	640	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V640V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCTGGTCGCTGTGCGTG	0.692																																						uc003ljo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1918-1920)GTC>GTA		protocadherin gamma subfamily B, 1 isoform 1							28.0	33.0	31.0					5																	140731747		2028	4175	6203	SO:0001819	synonymous_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140731747C>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1920C>A	5.37:g.140731747C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.V640V	p.V640V	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1920	+			640			Extracellular (Potential).|Cadherin 6.		Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1920C>A	CCDS54923.1																																																																																				PASS	0.692	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		12	13	12	13	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141236853	141236853	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:141236853C>G	ENST00000287008.3	-	4	3430	c.3283G>C	c.(3283-3285)Gat>Cat	p.D1095H	PCDH1_ENST00000503492.1_Missense_Mutation_p.D363H	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1095H(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ATGCTGCCATCAGGGGTGGTG	0.622																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3283-3285)GAT>CAT		protocadherin 1 isoform 2 precursor							66.0	61.0	63.0					5																	141236853		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141236853C>G	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3283G>C	5.37:g.141236853C>G	ENSP00000287008:p.Asp1095His						p.D1095H	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	4	3400	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Error:Variant_position_missing_in_Q08174_after_alignment					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3283G>C	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525417	0.64747	.	.	ENSG00000156453	ENST00000503492;ENST00000287008	T;T	0.57436	0.4;0.44	5.23	5.23	0.72850	.	0.000000	0.45867	U	0.000331	T	0.70919	0.3279	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74216	-0.3737	10	0.87932	D	0	.	16.2921	0.82757	0.0:1.0:0.0:0.0	.	1095	Q08174-2	.	H	363;1095	ENSP00000424667:D363H;ENSP00000287008:D1095H	ENSP00000287008:D1095H	D	-	1	0	PCDH1	141217037	1.000000	0.71417	0.584000	0.28653	0.937000	0.57800	7.487000	0.81328	2.433000	0.82419	0.455000	0.32223	GAT		PASS	0.622	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		12	10	12	10	---	---	---	---
ABLIM3	22885	broad.mit.edu	37	5	148627474	148627474	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:148627474G>C	ENST00000506113.1	+	17	2163	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	ABLIM3_ENST00000356541.3_Missense_Mutation_p.E450Q|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.E47Q|ABLIM3_ENST00000504238.1_Missense_Mutation_p.E450Q|ABLIM3_ENST00000309868.7_Missense_Mutation_p.E561Q|ABLIM3_ENST00000508983.1_Missense_Mutation_p.E528Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.E466Q|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	561					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.E561Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGCTATGAGATGTCCCT	0.602																																						uc003lpy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1681-1683)GAG>CAG		actin binding LIM protein family, member 3							27.0	28.0	28.0					5																	148627474		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148627474G>C	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1681G>C	5.37:g.148627474G>C	ENSP00000425394:p.Glu561Gln					ABLIM3_uc003lpz.1_Missense_Mutation_p.E561Q|ABLIM3_uc003lqa.1_Missense_Mutation_p.E458Q|ABLIM3_uc003lqb.2_Missense_Mutation_p.E450Q|ABLIM3_uc003lqc.1_Missense_Mutation_p.E528Q|ABLIM3_uc003lqd.1_Missense_Mutation_p.E466Q|ABLIM3_uc003lqf.2_Missense_Mutation_p.E450Q|ABLIM3_uc003lqe.1_Missense_Mutation_p.E450Q	p.E561Q	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		18	1932	+			561					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1681G>C	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845415	0.51164	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.42	5.42	0.78866	.	0.469302	0.24206	N	0.040570	T	0.18841	0.0452	N	0.08118	0	0.37594	D	0.9203	P;B;B;B	0.41265	0.744;0.096;0.184;0.393	B;B;B;B	0.35813	0.211;0.073;0.098;0.099	T	0.14337	-1.0476	10	0.41790	T	0.15	.	19.2009	0.93711	0.0:0.0:1.0:0.0	.	47;466;450;561	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	Q	466;450;561;561;450;528;47;46	ENSP00000315841:E466Q;ENSP00000348938:E450Q;ENSP00000310309:E561Q;ENSP00000425394:E561Q;ENSP00000421183:E450Q;ENSP00000420855:E528Q;ENSP00000430150:E47Q	ENSP00000310309:E561Q	E	+	1	0	ABLIM3	148607667	1.000000	0.71417	0.360000	0.25837	0.884000	0.51177	6.552000	0.73914	2.545000	0.85829	0.561000	0.74099	GAG		PASS	0.602	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		14	11	14	11	---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158204441	158204441	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:158204441G>T	ENST00000313708.6	-	10	1298	c.1016C>A	c.(1015-1017)cCa>cAa	p.P339Q	EBF1_ENST00000380654.4_Missense_Mutation_p.P308Q|EBF1_ENST00000517373.1_Missense_Mutation_p.P331Q|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	339	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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.P339Q(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAATCTGCCTGGTGTTCCTTT	0.498			T	HMGA2	lipoma																																	uc010jip.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(1015-1017)CCA>CAA		early B-cell factor							170.0	153.0	159.0					5																	158204441		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158204441G>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1016C>A	5.37:g.158204441G>T	ENSP00000322898:p.Pro339Gln					EBF1_uc011ddw.1_Missense_Mutation_p.P207Q|EBF1_uc011ddx.1_Missense_Mutation_p.P340Q|EBF1_uc003lxl.3_Missense_Mutation_p.P308Q	p.P339Q	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1318	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	339			IPT/TIG.		Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1016C>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601300	0.87055	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.46063	0.88;0.88;0.88	5.72	5.72	0.89469	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.81239	2.535	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;0.998;1.0;0.999	T	0.71517	-0.4569	10	0.66056	D	0.02	-2.5648	19.8968	0.96969	0.0:0.0:1.0:0.0	.	339;326;339;308	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	Q	339;339;308;331	ENSP00000322898:P339Q;ENSP00000370029:P308Q;ENSP00000428020:P331Q	ENSP00000322898:P339Q	P	-	2	0	EBF1	158137019	1.000000	0.71417	0.810000	0.32431	0.989000	0.77384	9.731000	0.98807	2.691000	0.91804	0.655000	0.94253	CCA		PASS	0.498	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		4	72	4	72	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161116112	161116112	+	Missense_Mutation	SNP	A	A	G	rs575983585	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:161116112A>G	ENST00000274545.5	+	4	816	c.383A>G	c.(382-384)aAc>aGc	p.N128S	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.N118S			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	128					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.N128S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGCTCACAACATGACAACT	0.403										TCGA Ovarian(5;0.080)			A|||	4	0.000798722	0.0	0.0	5008	,	,		18398	0.004		0.0	False		,,,				2504	0.0					uc003lyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(382-384)AAC>AGC		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						65.0	65.0	65.0					5																	161116112		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116112A>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.383A>G	5.37:g.161116112A>G	ENSP00000274545:p.Asn128Ser	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'Flank	p.N128S	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	721	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	128			Extracellular (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.383A>G	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.33|14.33	2.503597|2.503597	0.44558|0.44558	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	T;T;T;T|.	0.78707|.	-1.2;-1.2;-1.2;-1.2|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67373|0.67373	0.2886|0.2886	L|L	0.48877|0.48877	1.53|1.53	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.64639|0.64639	-0.6360|-0.6360	10|5	0.34782|.	T|.	0.22|.	.|.	16.1778|16.1778	0.81874|0.81874	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	128|.	Q16445|.	GBRA6_HUMAN|.	S|A	128;118;75;23|68	ENSP00000274545:N128S;ENSP00000430527:N118S;ENSP00000430212:N75S;ENSP00000427989:N23S|.	ENSP00000274545:N128S|.	N|T	+|+	2|1	0|0	GABRA6|GABRA6	161048690|161048690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.176000|9.176000	0.94839|0.94839	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	AAC|ACA		PASS	0.403	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			16	14	16	14	---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161324409	161324409	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:161324409C>T	ENST00000428797.2	+	11	1707	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	GABRA1_ENST00000437025.2_Missense_Mutation_p.A451V|GABRA1_ENST00000444819.1_Missense_Mutation_p.A451V|GABRA1_ENST00000420560.1_Missense_Mutation_p.A451V|GABRA1_ENST00000023897.6_Missense_Mutation_p.A451V|GABRA1_ENST00000393943.4_Missense_Mutation_p.A451V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	451					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A451V(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAGCTAAAAGCCCCCACACCA	0.413																																						uc010jiw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1351-1353)GCC>GTC		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						93.0	96.0	95.0					5																	161324409		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324409C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1352C>T	5.37:g.161324409C>T	ENSP00000393097:p.Ala451Val					GABRA1_uc010jix.2_Missense_Mutation_p.A451V|GABRA1_uc010jiy.2_Missense_Mutation_p.A451V|GABRA1_uc003lyx.3_Missense_Mutation_p.A451V|GABRA1_uc010jiz.2_Missense_Mutation_p.A451V|GABRA1_uc010jja.2_Missense_Mutation_p.A451V|GABRA1_uc010jjb.2_Missense_Mutation_p.A451V	p.A451V	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1820	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	451					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1352C>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938191	0.52972	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.44	5.44	0.79542	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.058573	0.64402	D	0.000002	T	0.65883	0.2734	L	0.29908	0.895	0.32910	D	0.514374	B	0.28713	0.22	B	0.24974	0.057	T	0.73142	-0.4076	10	0.66056	D	0.02	.	10.475	0.44659	0.1346:0.7937:0.0:0.0717	.	451	P14867	GBRA1_HUMAN	V	451	ENSP00000023897:A451V;ENSP00000393097:A451V;ENSP00000377517:A451V;ENSP00000415441:A451V;ENSP00000408041:A451V;ENSP00000414232:A451V	ENSP00000023897:A451V	A	+	2	0	GABRA1	161256987	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.891000	0.39738	2.709000	0.92574	0.655000	0.94253	GCC		PASS	0.413	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		38	56	38	56	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167643784	167643784	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:167643784G>A	ENST00000518659.1	+	22	4129	c.4090G>A	c.(4090-4092)Gac>Aac	p.D1364N	TENM2_ENST00000545108.1_Missense_Mutation_p.D1363N|TENM2_ENST00000519204.1_Missense_Mutation_p.D1243N|TENM2_ENST00000403607.2_Missense_Mutation_p.D1188N|TENM2_ENST00000520394.1_Missense_Mutation_p.D1125N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1364					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.D1197N(1)|p.D1243N(1)|p.D1364N(1)									TATTGCAGTAGACAAGAATGG	0.517																																						uc010jjd.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(4063-4065)GAC>AAC		odz, odd Oz/ten-m homolog 2							88.0	87.0	87.0					5																	167643784		2020	4187	6207	SO:0001583	missense	57451							g.chr5:167643784G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4090G>A	5.37:g.167643784G>A	ENSP00000429430:p.Asp1364Asn					ODZ2_uc003lzr.3_Missense_Mutation_p.D1125N|ODZ2_uc003lzt.3_Missense_Mutation_p.D728N|ODZ2_uc010jje.2_Missense_Mutation_p.D619N	p.D1355N	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	22	4063	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4063G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.425423	0.96131	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96534	0.8869	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.78314	0.983;0.961;0.991	D	0.96765	0.9564	10	0.66056	D	0.02	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	1363;1364;1125	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	N	1364;1363;1243;1125;1188	ENSP00000429430:D1364N;ENSP00000438635:D1363N;ENSP00000428964:D1243N;ENSP00000427874:D1125N;ENSP00000384905:D1188N	ENSP00000384905:D1188N	D	+	1	0	ODZ2	167576362	1.000000	0.71417	0.966000	0.40874	0.980000	0.70556	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	GAC		PASS	0.517	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		5	49	5	49	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168216618	168216618	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:168216618C>T	ENST00000519560.1	-	11	1445	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q	SLIT3_ENST00000404867.3_Silent_p.Q342Q|Y_RNA_ENST00000365475.1_RNA|SLIT3_ENST00000332966.8_Silent_p.Q342Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	342					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.Q342Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATCCGATATCTGATTCTTGC	0.517																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1024-1026)CAG>CAA		slit homolog 3 precursor							104.0	87.0	93.0					5																	168216618		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168216618C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1026G>A	5.37:g.168216618C>T						SLIT3_uc010jjg.2_Silent_p.Q342Q|SLIT3_uc010jji.2_Silent_p.Q342Q|SLIT3_uc003mac.1_Silent_p.Q139Q	p.Q342Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1446	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	342			LRR 8.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.1026G>A	CCDS4369.1																																																																																				PASS	0.517	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		8	14	8	14	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169116285	169116285	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:169116285G>T	ENST00000256935.8	+	9	871	c.791G>T	c.(790-792)cGg>cTg	p.R264L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	264					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R264L(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGGCAGCCGGGGCTTCCCT	0.517																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(790-792)CGG>CTG		dedicator of cytokinesis 2							126.0	109.0	115.0					5																	169116285		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169116285G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.791G>T	5.37:g.169116285G>T	ENSP00000256935:p.Arg264Leu					DOCK2_uc011der.1_RNA	p.R264L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	871	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	264					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.791G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909595	0.52439	.	.	ENSG00000134516	ENST00000256935	T	0.16897	2.31	5.96	-0.841	0.10752	.	0.269993	0.46758	D	0.000279	T	0.07638	0.0192	N	0.08118	0	0.80722	D	1	B	0.18461	0.028	B	0.17433	0.018	T	0.29119	-1.0022	10	0.27082	T	0.32	.	11.3244	0.49440	0.6599:0.0:0.3401:0.0	.	264	Q92608	DOCK2_HUMAN	L	264	ENSP00000256935:R264L	ENSP00000256935:R264L	R	+	2	0	DOCK2	169048863	0.991000	0.36638	0.990000	0.47175	0.999000	0.98932	0.735000	0.26115	-0.070000	0.12908	0.655000	0.94253	CGG		PASS	0.517	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		20	14	20	14	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169506093	169506093	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:169506093G>C	ENST00000256935.8	+	49	5189	c.5109G>C	c.(5107-5109)aaG>aaC	p.K1703N	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.K1195N|DOCK2_ENST00000540750.1_Missense_Mutation_p.K764N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1703					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.K1703N(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGGACAAAGAGAAGCAGCG	0.587																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(5107-5109)AAG>AAC		dedicator of cytokinesis 2							82.0	80.0	80.0					5																	169506093		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169506093G>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5109G>C	5.37:g.169506093G>C	ENSP00000256935:p.Lys1703Asn					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.K1195N|DOCK2_uc003mah.2_Missense_Mutation_p.K259N	p.K1703N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		49	5189	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1703					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5109G>C	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602864	0.46423	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09723	3.63;3.25;2.95	4.81	2.99	0.34606	.	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.27053	0.805	0.38778	D	0.954707	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.991	T	0.10636	-1.0621	10	0.19147	T	0.46	.	10.9893	0.47541	0.1675:0.0:0.8325:0.0	.	1195;259;1703	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	N	1703;1195;764	ENSP00000256935:K1703N;ENSP00000429283:K1195N;ENSP00000438827:K764N	ENSP00000256935:K1703N	K	+	3	2	DOCK2	169438671	1.000000	0.71417	0.994000	0.49952	0.093000	0.18481	3.428000	0.52792	1.168000	0.42723	-0.142000	0.14014	AAG		PASS	0.587	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		17	35	17	35	---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180419834	180419834	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:180419834C>A	ENST00000342868.6	+	2	255	c.71C>A	c.(70-72)cCg>cAg	p.P24Q		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	24						integral component of membrane (GO:0016021)		p.P24Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GTCACTGGACCGGGCAAGTTT	0.552																																						uc003mmr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)CCG>CAG		butyrophilin-like 3 precursor							78.0	69.0	72.0					5																	180419834		2059	3904	5963	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180419834C>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.71C>A	5.37:g.180419834C>A	ENSP00000341787:p.Pro24Gln						p.P24Q	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		2	199	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	24			Extracellular (Potential).		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.71C>A	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856734	0.32791	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.66638	-0.22	2.74	2.74	0.32292	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80768	0.4686	M	0.85710	2.77	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66881	-0.5811	9	0.87932	D	0	.	7.4786	0.27391	0.2578:0.7422:0.0:0.0	.	24	Q6UXE8	BTNL3_HUMAN	Q	24	ENSP00000341787:P24Q	ENSP00000341787:P24Q	P	+	2	0	BTNL3	180352440	0.295000	0.24389	0.007000	0.13788	0.002000	0.02628	1.567000	0.36407	1.473000	0.48159	0.400000	0.26472	CCG		PASS	0.552	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		11	15	11	15	---	---	---	---
TRIM7	81786	broad.mit.edu	37	5	180622557	180622557	+	Missense_Mutation	SNP	G	G	T	rs373720464		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:180622557G>T	ENST00000274773.7	-	7	1206	c.1145C>A	c.(1144-1146)aCc>aAc	p.T382N	TRIM7_ENST00000422067.2_Missense_Mutation_p.T174N|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000393315.1_Missense_Mutation_p.T174N|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.T200N|CTC-338M12.6_ENST00000512508.1_RNA|CTC-338M12.5_ENST00000514487.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Missense_Mutation_p.T174N	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	382	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.T382N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GCGGGTGTTGGTGTCGAAGCG	0.701																																					Esophageal Squamous(128;2258 2308 35507 48647)	uc003mmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1144-1146)ACC>AAC		tripartite motif-containing 7 isoform 1							34.0	36.0	36.0					5																	180622557		2191	4272	6463	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622557G>T	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1145C>A	5.37:g.180622557G>T	ENSP00000274773:p.Thr382Asn					TRIM7_uc003mmv.1_Missense_Mutation_p.T200N|TRIM7_uc003mmw.1_Missense_Mutation_p.T174N|TRIM7_uc003mmx.1_Missense_Mutation_p.T174N|TRIM7_uc003mmy.1_Missense_Mutation_p.T174N	p.T382N	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1212	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	382			B30.2/SPRY.		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.1145C>A	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707294	0.48412	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87	4.74	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000029	T	0.17492	0.0420	L	0.28649	0.875	0.36671	D	0.878504	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.14671	-1.0464	10	0.22109	T	0.4	.	8.9652	0.35872	0.1015:0.0:0.8985:0.0	.	382;200	Q9C029;Q9C029-4	TRIM7_HUMAN;.	N	382;174;174;200;174	ENSP00000274773:T382N;ENSP00000376991:T174N;ENSP00000355059:T174N;ENSP00000376994:T200N;ENSP00000391458:T174N	ENSP00000274773:T382N	T	-	2	0	TRIM7	180555163	0.001000	0.12720	1.000000	0.80357	0.816000	0.46133	0.232000	0.17891	2.166000	0.68216	0.549000	0.68633	ACC		PASS	0.701	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		6	11	6	11	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6182372	6182372	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:6182372G>T	ENST00000264870.3	-	11	1573	c.1308C>A	c.(1306-1308)gtC>gtA	p.V436V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	436					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.V436V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTCGCTGTTGACCTGGAAAC	0.448																																						uc003mwv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(1306-1308)GTC>GTA		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						108.0	97.0	101.0					6																	6182372		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6182372G>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1308C>A	6.37:g.6182372G>T						F13A1_uc011dib.1_Silent_p.V373V	p.V436V	NM_000129	NP_000120	P00488	F13A_HUMAN			11	1431	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	436					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.1308C>A	CCDS4496.1																																																																																				PASS	0.448	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		8	14	8	14	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7232080	7232080	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:7232080C>T	ENST00000349384.6	+	10	4062	c.3748C>T	c.(3748-3750)Cac>Tac	p.H1250Y	RREB1_ENST00000334984.6_Missense_Mutation_p.H1250Y|RREB1_ENST00000379933.3_Missense_Mutation_p.H1250Y|RREB1_ENST00000379938.2_Missense_Mutation_p.H1250Y	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1250					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H1250Y(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACCTGTCCCCACTGTCCCCG	0.607																																						uc003mxc.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(3748-3750)CAC>TAC		ras responsive element binding protein 1 isoform							64.0	44.0	51.0					6																	7232080		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7232080C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3748C>T	6.37:g.7232080C>T	ENSP00000305560:p.His1250Tyr					RREB1_uc003mxb.2_Missense_Mutation_p.H1250Y|RREB1_uc010jnx.2_Missense_Mutation_p.H1250Y	p.H1250Y	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	4138	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1250			C2H2-type 12.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.3748C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	2.698	-0.271520	0.05716	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.48201	0.82;1.65;0.82;1.65	5.33	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.101752	0.42964	D	0.000624	T	0.12008	0.0292	L	0.31420	0.93	0.26390	N	0.976591	B;B;P	0.38827	0.002;0.005;0.649	B;B;B	0.34489	0.002;0.005;0.184	T	0.05022	-1.0911	10	0.29301	T	0.29	-29.1087	3.6354	0.08147	0.2252:0.5484:0.0:0.2263	.	1250;1250;1250	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	Y	1250	ENSP00000369265:H1250Y;ENSP00000369270:H1250Y;ENSP00000305560:H1250Y;ENSP00000335574:H1250Y	ENSP00000335574:H1250Y	H	+	1	0	RREB1	7177079	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.692000	0.54727	1.187000	0.43000	0.655000	0.94253	CAC		PASS	0.607	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			10	15	10	15	---	---	---	---
TMEM14C	51522	broad.mit.edu	37	6	10725208	10725208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:10725208G>A	ENST00000541412.1	+	3	420	c.35G>A	c.(34-36)tGg>tAg	p.W12*	TMEM14C_ENST00000229563.5_Nonsense_Mutation_p.W12*|TMEM14C_ENST00000467415.1_3'UTR	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	12					heme biosynthetic process (GO:0006783)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.W12*(1)		large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			CCTTTGCATTGGTTTGGCTTT	0.433																																						uc003mzh.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(34-36)TGG>TAG		transmembrane protein 14C							467.0	425.0	440.0					6																	10725208		2203	4300	6503	SO:0001587	stop_gained	51522				heme biosynthetic process	integral to membrane|mitochondrial membrane		g.chr6:10725208G>A	AF151028	CCDS4514.1	6p24.1	2008-02-26	2004-04-16	2004-04-21	ENSG00000111843	ENSG00000111843			20952	protein-coding gene	gene with protein product		615318	"""chromosome 6 open reading frame 53"""	C6orf53		11042152, 12958361	Standard	NM_016462		Approved	HSPC194, bA421M1.6, NET26	uc021ylj.1	Q9P0S9	OTTHUMG00000014242	ENST00000541412.1:c.35G>A	6.37:g.10725208G>A	ENSP00000444561:p.Trp12*					TMEM14C_uc010joq.1_Nonsense_Mutation_p.W12*|TMEM14C_uc003mzi.2_Nonsense_Mutation_p.W12*	p.W12*	NM_016462	NP_057546	Q9P0S9	TM14C_HUMAN	Epithelial(50;0.246)		3	216	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	12			Helical; (Potential).		Q5T4I6	Nonsense_Mutation	SNP	ENST00000541412.1	37	c.35G>A	CCDS4514.1	.	.	.	.	.	.	.	.	.	.	G	39	7.579954	0.98371	.	.	ENSG00000111843	ENST00000541412;ENST00000342277;ENST00000229563	.	.	.	3.74	2.65	0.31530	.	0.294110	0.37012	N	0.002293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8049	0.23772	0.217:0.0:0.783:0.0	.	.	.	.	X	12	.	ENSP00000229563:W12X	W	+	2	0	TMEM14C	10833194	1.000000	0.71417	0.818000	0.32626	0.961000	0.63080	6.105000	0.71505	0.221000	0.20879	0.462000	0.41574	TGG		PASS	0.433	TMEM14C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039829.1	NM_016462		43	70	43	70	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12161767	12161767	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:12161767G>A	ENST00000379388.2	+	8	6915	c.6583G>A	c.(6583-6585)Gag>Aag	p.E2195K	HIVEP1_ENST00000541134.1_Missense_Mutation_p.E60K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2195					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.E2195K(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)				AGACGATGATGAGGACAGCCA	0.473																																						uc003nac.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6583-6585)GAG>AAG		human immunodeficiency virus type I enhancer							76.0	85.0	82.0					6																	12161767		2097	4228	6325	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161767G>A	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.6583G>A	6.37:g.12161767G>A	ENSP00000368698:p.Glu2195Lys					HIVEP1_uc011diq.1_RNA	p.E2195K	NM_002114	NP_002105	P15822	ZEP1_HUMAN			8	6762	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2195					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6583G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816816	0.90790	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.35048	2.73;1.33	5.77	5.77	0.91146	.	0.228496	0.22365	N	0.061038	T	0.40570	0.1122	M	0.79258	2.445	0.58432	D	0.999999	D	0.53745	0.962	P	0.46917	0.531	T	0.31138	-0.9954	10	0.36615	T	0.2	-20.1518	19.9827	0.97334	0.0:0.0:1.0:0.0	.	2195	P15822	ZEP1_HUMAN	K	2195;122;60;177	ENSP00000368698:E2195K;ENSP00000445617:E60K	ENSP00000368698:E2195K	E	+	1	0	HIVEP1	12269753	1.000000	0.71417	0.565000	0.28409	0.271000	0.26615	8.955000	0.93058	2.728000	0.93425	0.655000	0.94253	GAG		PASS	0.473	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		17	22	17	22	---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17637456	17637456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:17637456C>A	ENST00000262077.2	-	16	2391	c.2392G>T	c.(2392-2394)Gag>Tag	p.E798*	NUP153_ENST00000537253.1_Nonsense_Mutation_p.E829*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	798					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.E798*(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACTGAACACTCCCAAGATCCA	0.408																																						uc003ncd.1																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(2392-2394)GAG>TAG		nucleoporin 153kDa							102.0	96.0	98.0					6																	17637456		2203	4300	6503	SO:0001587	stop_gained	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17637456C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2392G>T	6.37:g.17637456C>A	ENSP00000262077:p.Glu798*					NUP153_uc011dje.1_Nonsense_Mutation_p.E829*|NUP153_uc010jpl.1_Nonsense_Mutation_p.E756*	p.E798*	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		16	2592	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	798			RanBP2-type 3.		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Nonsense_Mutation	SNP	ENST00000262077.2	37	c.2392G>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	39	7.749377	0.98468	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	.	.	.	5.73	5.73	0.89815	.	0.115763	0.38217	N	0.001769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-6.7178	15.3693	0.74551	0.0:0.9315:0.0:0.0685	.	.	.	.	X	798;778;829	.	ENSP00000262077:E798X	E	-	1	0	NUP153	17745435	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.891000	0.48617	2.861000	0.98227	0.655000	0.94253	GAG		PASS	0.408	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			56	76	56	76	---	---	---	---
CDKAL1	54901	broad.mit.edu	37	6	21201499	21201499	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:21201499G>A	ENST00000378610.1	+	13	1552	c.1542G>A	c.(1540-1542)ttG>ttA	p.L514L	CDKAL1_ENST00000274695.4_Silent_p.L514L|CDKAL1_ENST00000378624.4_Silent_p.L423L|CDKAL1_ENST00000476517.1_3'UTR			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	514					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.L514L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCTCGGGTTTGACAAAGGTAA	0.453																																						uc003ndc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1540-1542)TTG>TTA		CDK5 regulatory subunit associated protein							100.0	81.0	87.0					6																	21201499		2203	4300	6503	SO:0001819	synonymous_variant	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:21201499G>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1542G>A	6.37:g.21201499G>A						CDKAL1_uc003ndd.1_Silent_p.L514L|CDKAL1_uc003nde.1_Silent_p.L423L|CDKAL1_uc003ndf.1_Intron|CDKAL1_uc003ndg.2_RNA	p.L514L	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		15	1716	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		514					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	c.1542G>A	CCDS4546.1																																																																																				PASS	0.453	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		42	59	42	59	---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25554286	25554286	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:25554286G>A	ENST00000329474.6	+	28	2922	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	852					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.E852K(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AATTGTGGATGAAATCCTGGA	0.448																																						uc011djw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(2554-2556)GAA>AAA		leucine rich repeat containing 16A							115.0	112.0	113.0					6																	25554286		1994	4161	6155	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25554286G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2554G>A	6.37:g.25554286G>A	ENSP00000331983:p.Glu852Lys					LRRC16A_uc010jpx.2_Missense_Mutation_p.E852K|LRRC16A_uc010jpy.2_Missense_Mutation_p.E852K|LRRC16A_uc003nfa.1_Missense_Mutation_p.E206K	p.E852K	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			28	2930	+			852					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.2554G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	35	5.442460	0.96187	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.20200	2.09	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;0.999;1.0	D;D;D;D	0.85130	0.993;0.993;0.997;0.997	T	0.09185	-1.0686	10	0.51188	T	0.08	.	19.7458	0.96251	0.0:0.0:1.0:0.0	.	852;852;852;852	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	K	852	ENSP00000331983:E852K	ENSP00000331983:E852K	E	+	1	0	LRRC16A	25662265	1.000000	0.71417	0.979000	0.43373	0.969000	0.65631	9.098000	0.94202	2.745000	0.94114	0.650000	0.86243	GAA		PASS	0.448	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		10	17	10	17	---	---	---	---
SLC17A1	6568	broad.mit.edu	37	6	25811931	25811931	+	Nonsense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:25811931G>C	ENST00000244527.4	-	9	1080	c.965C>G	c.(964-966)tCa>tGa	p.S322*	SLC17A1_ENST00000468082.1_Nonsense_Mutation_p.S268*|SLC17A1_ENST00000476801.1_Nonsense_Mutation_p.S322*|SLC17A1_ENST00000427328.1_Nonsense_Mutation_p.S268*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	322					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.S322*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GAAGAAGTCTGATAACTGACC	0.448																																						uc003nfh.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(964-966)TCA>TGA		solute carrier family 17 (sodium phosphate),							103.0	93.0	96.0					6																	25811931		2203	4300	6503	SO:0001587	stop_gained	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25811931G>C		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.965C>G	6.37:g.25811931G>C	ENSP00000244527:p.Ser322*					SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.S320*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.S266*	p.S322*	NM_005074	NP_005065	Q14916	NPT1_HUMAN			9	1081	-			322					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Nonsense_Mutation	SNP	ENST00000244527.4	37	c.965C>G	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054243	0.55218	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.38	3.38	0.38709	.	1.211340	0.06268	N	0.695074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.5584	0.45131	0.0:0.0:1.0:0.0	.	.	.	.	X	322;268;322;268	.	ENSP00000244527:S322X	S	-	2	0	SLC17A1	25919910	0.981000	0.34729	0.010000	0.14722	0.350000	0.29205	3.678000	0.54627	2.191000	0.70037	0.650000	0.86243	TCA		PASS	0.448	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			5	90	5	90	---	---	---	---
HIST1H3D	8351	broad.mit.edu	37	6	26197084	26197084	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:26197084C>A	ENST00000356476.2	-	1	394	c.395G>T	c.(394-396)cGt>cTt	p.R132L	HIST1H3D_ENST00000377831.5_Missense_Mutation_p.R132L|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	132					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R132L(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CCTCTCCCCACGAATGCGGCG	0.507																																					GBM(108;3816 4467)	uc003ngv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)CGT>CTT		histone cluster 1, H3d							97.0	91.0	93.0					6																	26197084		2203	4300	6503	SO:0001583	missense	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197084C>A	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.395G>T	6.37:g.26197084C>A	ENSP00000366999:p.Arg132Leu					HIST1H2BF_uc003ngx.2_5'Flank	p.R132L	NM_003530	NP_003521	P68431	H31_HUMAN			2	792	-		all_hematologic(11;0.196)	132					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	c.395G>T	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.633906	0.29068	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.69175	-0.38;-0.38	4.28	2.42	0.29668	.	.	.	.	.	T	0.50667	0.1629	.	.	.	0.28556	N	0.911364	.	.	.	.	.	.	T	0.48658	-0.9016	6	0.87932	D	0	.	7.8679	0.29547	0.1598:0.7536:0.0:0.0866	.	.	.	.	L	132	ENSP00000366999:R132L;ENSP00000367062:R132L	ENSP00000366999:R132L	R	-	2	0	HIST1H3D	26305063	0.999000	0.42202	0.004000	0.12327	0.096000	0.18686	3.034000	0.49751	0.337000	0.23665	0.655000	0.94253	CGT		PASS	0.507	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		25	86	25	86	---	---	---	---
HIST1H1D	3007	broad.mit.edu	37	6	26234618	26234618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:26234618G>A	ENST00000244534.5	-	1	598	c.544C>T	c.(544-546)Cag>Tag	p.Q182*		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	182					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.Q182*(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTTTTGGCTGAGGTGTTTTC	0.502																																						uc003nhd.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(544-546)CAG>TAG		histone cluster 1, H1d							103.0	109.0	107.0					6																	26234618		2203	4300	6503	SO:0001587	stop_gained	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234618G>A	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.544C>T	6.37:g.26234618G>A	ENSP00000244534:p.Gln182*						p.Q182*	NM_005320	NP_005311	P16402	H13_HUMAN			1	599	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	182					B2R751|Q2M2I2	Nonsense_Mutation	SNP	ENST00000244534.5	37	c.544C>T	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	11.88	1.771879	0.31320	.	.	ENSG00000124575	ENST00000244534	.	.	.	4.93	2.49	0.30216	.	0.214672	0.35407	N	0.003236	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5645	11.3447	0.49554	0.0:0.0:0.3038:0.6962	.	.	.	.	X	182	.	ENSP00000244534:Q182X	Q	-	1	0	HIST1H1D	26342597	0.997000	0.39634	0.048000	0.18961	0.002000	0.02628	2.388000	0.44398	0.312000	0.23038	-0.271000	0.10264	CAG		PASS	0.502	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		40	57	40	57	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26393166	26393166	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:26393166C>T	ENST00000356709.4	+	8	1654	c.1543C>T	c.(1543-1545)Cac>Tac	p.H515Y	BTN2A2_ENST00000482536.1_Missense_Mutation_p.H305Y|BTN2A2_ENST00000416795.2_Missense_Mutation_p.H515Y|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000352867.2_Missense_Mutation_p.H399Y|BTN2A2_ENST00000432533.2_3'UTR	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	515					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.H515Y(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCTGAAACTTCACAGAGTGGG	0.572																																						uc003nhq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1543-1545)CAC>TAC		butyrophilin, subfamily 2, member A2 isoform a							56.0	54.0	54.0					6																	26393166		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26393166C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1543C>T	6.37:g.26393166C>T	ENSP00000349143:p.His515Tyr					BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.H399Y|BTN2A2_uc011dkh.1_Missense_Mutation_p.H305Y|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.H515Y|BTN2A2_uc011dki.1_3'UTR	p.H515Y	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			8	1629	+			515			Cytoplasmic (Potential).		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.1543C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	4.809	0.150379	0.09185	.	.	ENSG00000124508	ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T	0.53640	1.4;1.03;0.61;1.4	3.63	-0.546	0.11840	.	1.015810	0.07892	N	0.971268	T	0.14743	0.0356	L	0.34521	1.04	0.09310	N	1	B;B;B	0.16802	0.019;0.019;0.002	B;B;B	0.15870	0.014;0.006;0.004	T	0.32134	-0.9918	10	0.35671	T	0.21	.	6.9493	0.24536	0.0:0.5027:0.0:0.4973	.	305;399;515	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	Y	515;399;305;515	ENSP00000349143:H515Y;ENSP00000337117:H399Y;ENSP00000419451:H305Y;ENSP00000399308:H515Y	ENSP00000337117:H399Y	H	+	1	0	BTN2A2	26501145	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.116000	0.10724	-0.105000	0.12132	-0.396000	0.06452	CAC		PASS	0.572	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			52	49	52	49	---	---	---	---
BTN3A3	10384	broad.mit.edu	37	6	26444514	26444514	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:26444514G>T	ENST00000244519.2	+	4	658	c.415G>T	c.(415-417)Gtg>Ttg	p.V139L	BTN3A3_ENST00000339789.4_Missense_Mutation_p.V97L|BTN3A3_ENST00000361232.3_Missense_Mutation_p.V97L	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	139	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.V139L(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AAAAGCCCTGGTGGAGCTGAA	0.488																																						uc003nhz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)GTG>TTG		butyrophilin, subfamily 3, member A3 isoform a							112.0	113.0	113.0					6																	26444514		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26444514G>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.415G>T	6.37:g.26444514G>T	ENSP00000244519:p.Val139Leu					BTN3A3_uc003nia.2_Missense_Mutation_p.V97L|BTN3A3_uc011dkn.1_Missense_Mutation_p.V97L	p.V139L	NM_006994	NP_008925	O00478	BT3A3_HUMAN			4	595	+			139			Extracellular (Potential).|Ig-like V-type 1.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.415G>T	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	G	8.313	0.822585	0.16678	.	.	ENSG00000111801	ENST00000482451;ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000487627;ENST00000496719;ENST00000490254;ENST00000476281;ENST00000487272	T;T;T;T;T;T;T;T;T	0.02916	4.11;4.11;4.11;4.11;4.11;4.11;4.11;4.11;4.11	2.5	-2.3	0.06785	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01061	0.0035	N	0.16037	0.36	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.28490	-1.0042	9	0.02654	T	1	.	6.6155	0.22774	0.0:0.1589:0.3559:0.4852	.	97;139	E9PCP5;O00478	.;BT3A3_HUMAN	L	121;139;97;97;97;97;139;97;97;97	ENSP00000419312:V121L;ENSP00000244519:V139L;ENSP00000344968:V97L;ENSP00000417717:V97L;ENSP00000355238:V97L;ENSP00000420339:V97L;ENSP00000420147:V139L;ENSP00000419736:V97L;ENSP00000419445:V97L	ENSP00000244519:V139L	V	+	1	0	BTN3A3	26552493	0.000000	0.05858	0.005000	0.12908	0.966000	0.64601	-0.818000	0.04467	-0.608000	0.05731	0.555000	0.69702	GTG		PASS	0.488	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		23	118	23	118	---	---	---	---
BTN3A3	10384	broad.mit.edu	37	6	26445991	26445991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:26445991G>T	ENST00000244519.2	+	5	736	c.493G>T	c.(493-495)Gag>Tag	p.E165*	BTN3A3_ENST00000339789.4_Nonsense_Mutation_p.E123*|BTN3A3_ENST00000361232.3_Nonsense_Mutation_p.E123*	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	165	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.E165*(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GATCCATCTGGAGTGCAGGTC	0.512																																						uc003nhz.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(493-495)GAG>TAG		butyrophilin, subfamily 3, member A3 isoform a							111.0	100.0	103.0					6																	26445991		2203	4300	6503	SO:0001587	stop_gained	10384					integral to membrane		g.chr6:26445991G>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.493G>T	6.37:g.26445991G>T	ENSP00000244519:p.Glu165*					BTN3A3_uc003nia.2_Nonsense_Mutation_p.E123*|BTN3A3_uc011dkn.1_Nonsense_Mutation_p.E123*	p.E165*	NM_006994	NP_008925	O00478	BT3A3_HUMAN			5	673	+			165			Extracellular (Potential).|Ig-like V-type 2.		B4DWI7|E9PCP5	Nonsense_Mutation	SNP	ENST00000244519.2	37	c.493G>T	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489622	0.96323	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000496719;ENST00000487272	.	.	.	3.1	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	8.5897	0.33679	0.0:0.2387:0.7613:0.0	.	.	.	.	X	165;123;123;123;165;123	.	ENSP00000244519:E165X	E	+	1	0	BTN3A3	26553970	0.995000	0.38212	0.038000	0.18304	0.534000	0.34807	0.595000	0.24029	0.573000	0.29400	0.462000	0.41574	GAG		PASS	0.512	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		7	77	7	77	---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27834802	27834802	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:27834802T>A	ENST00000331442.3	-	1	557	c.506A>T	c.(505-507)aAg>aTg	p.K169M		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	169					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.K169M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTCGCCACCTTTTTGACGCC	0.597																																						uc003njx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(505-507)AAG>ATG		histone cluster 1, H1b							72.0	79.0	76.0					6																	27834802		2203	4300	6503	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834802T>A	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.506A>T	6.37:g.27834802T>A	ENSP00000330074:p.Lys169Met						p.K169M	NM_005322	NP_005313	P16401	H15_HUMAN			1	558	-			169					Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.506A>T	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189869	0.57909	.	.	ENSG00000184357	ENST00000331442	T	0.28895	1.59	5.19	5.19	0.71726	.	0.386827	0.24287	N	0.039847	T	0.25121	0.0610	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.40289	-0.9571	10	0.66056	D	0.02	-5.376	14.5461	0.68032	0.0:0.0:0.0:1.0	.	169	P16401	H15_HUMAN	M	169	ENSP00000330074:K169M	ENSP00000330074:K169M	K	-	2	0	HIST1H1B	27942781	1.000000	0.71417	0.184000	0.23157	0.605000	0.37080	3.668000	0.54554	2.103000	0.63969	0.533000	0.62120	AAG		PASS	0.597	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		53	37	53	37	---	---	---	---
HIST1H4L	8368	broad.mit.edu	37	6	27841265	27841265	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:27841265C>G	ENST00000355981.2	-	1	24	c.24G>C	c.(22-24)ggG>ggC	p.G8G	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	8					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.G8G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						CCAGACccttcccgcctttgc	0.562																																						uc003njz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(22-24)GGG>GGC		histone cluster 1, H4l							49.0	45.0	46.0					6																	27841265		2203	4300	6503	SO:0001819	synonymous_variant	8368				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27841265C>G	X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"""Histones / Replication-dependent"""	4791	protein-coding gene	gene with protein product		602831	"""H4 histone family, member K"", ""histone 1, H4l"""	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.24G>C	6.37:g.27841265C>G						HIST1H3I_uc003njy.2_5'Flank	p.G8G	NM_003546	NP_003537	P62805	H4_HUMAN			1	25	-			8					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000355981.2	37	c.24G>C	CCDS4637.1																																																																																				PASS	0.562	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1	NM_003546		7	46	7	46	---	---	---	---
ZNF165	7718	broad.mit.edu	37	6	28053318	28053318	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:28053318G>A	ENST00000377325.1	+	2	616	c.60G>A	c.(58-60)ctG>ctA	p.L20L		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	20					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.L20L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGGACTTCTGATAGTGAAGA	0.448																																						uc003nkg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)CTG>CTA		zinc finger protein 165							136.0	150.0	145.0					6																	28053318		2203	4300	6503	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28053318G>A	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.60G>A	6.37:g.28053318G>A						ZNF165_uc003nkh.2_Silent_p.L20L|ZNF165_uc003nki.3_Silent_p.L20L	p.L20L	NM_003447	NP_003438	P49910	ZN165_HUMAN			3	1144	+			20						Silent	SNP	ENST00000377325.1	37	c.60G>A	CCDS4643.1																																																																																				PASS	0.448	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		56	163	56	163	---	---	---	---
OR2B3	442184	broad.mit.edu	37	6	29054912	29054912	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:29054912G>C	ENST00000377173.2	-	1	178	c.114C>G	c.(112-114)acC>acG	p.T38T		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38T(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGCCAAATATGGTGATTGTGT	0.408																																						uc003nlx.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(112-114)ACC>ACG		olfactory receptor, family 2, subfamily B,							139.0	128.0	132.0					6																	29054912		2203	4300	6503	SO:0001819	synonymous_variant	442184							g.chr6:29054912G>C		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.114C>G	6.37:g.29054912G>C							p.T38T	NM_001005226	NP_001005226					1	179	-								B0UYQ1|Q5ST41|Q96R13	Silent	SNP	ENST00000377173.2	37	c.114C>G	CCDS34358.1																																																																																				PASS	0.408	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			16	59	16	59	---	---	---	---
OR5V1	81696	broad.mit.edu	37	6	29323495	29323495	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:29323495T>C	ENST00000377154.1	-	4	777	c.478A>G	c.(478-480)Aca>Gca	p.T160A	OR5V1_ENST00000543825.1_Missense_Mutation_p.T160A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T160A(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTCAACACTGTATGCACCACT	0.443																																					Ovarian(32;43 883 21137 32120 42650)	uc011dlo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(478-480)ACA>GCA		olfactory receptor, family 5, subfamily V,							89.0	86.0	87.0					6																	29323495		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323495T>C		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.478A>G	6.37:g.29323495T>C	ENSP00000366359:p.Thr160Ala						p.T160A	NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN			1	560	-			160			Helical; Name=4; (Potential).		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.478A>G	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618965	0.46736	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00256	8.42;8.42	4.28	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33792	N	0.004543	T	0.00241	0.0007	M	0.82433	2.59	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33214	-0.9877	10	0.59425	D	0.04	-25.3354	5.8519	0.18697	0.1508:0.0886:0.0:0.7606	.	160	Q9UGF6	OR5V1_HUMAN	A	160	ENSP00000366359:T160A;ENSP00000443309:T160A	ENSP00000366356:T160A	T	-	1	0	OR5V1	29431474	0.000000	0.05858	0.769000	0.31535	0.735000	0.41995	0.353000	0.20130	1.922000	0.55676	0.443000	0.29094	ACA		PASS	0.443	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			43	90	43	90	---	---	---	---
OR11A1	26531	broad.mit.edu	37	6	29395013	29395013	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:29395013G>T	ENST00000377149.1	-	5	878	c.406C>A	c.(406-408)Ctg>Atg	p.L136M	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.L136M|OR11A1_ENST00000377148.1_Missense_Mutation_p.L136M			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L136M(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GGCCCCATCAGGAGTGGGTAG	0.562																																						uc003nmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(406-408)CTG>ATG		olfactory receptor, family 11, subfamily A,							72.0	79.0	77.0					6																	29395013		1505	2707	4212	SO:0001583	missense	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29395013G>T		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.406C>A	6.37:g.29395013G>T	ENSP00000366354:p.Leu136Met						p.L136M	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	497	-			136			Cytoplasmic (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	c.406C>A	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982644	0.34942	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.01379	4.96;4.96;4.96	3.78	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34435	N	0.003967	T	0.02083	0.0065	M	0.62016	1.91	0.31260	N	0.693014	D	0.76494	0.999	D	0.72338	0.977	T	0.36601	-0.9741	10	0.62326	D	0.03	-7.8444	5.3912	0.16245	0.1073:0.0:0.6932:0.1995	.	136	Q9GZK7	O11A1_HUMAN	M	136	ENSP00000366353:L136M;ENSP00000366354:L136M;ENSP00000366352:L136M	ENSP00000366352:L136M	L	-	1	2	OR11A1	29502992	0.000000	0.05858	0.984000	0.44739	0.475000	0.33008	-0.927000	0.03984	0.785000	0.33685	0.405000	0.27470	CTG		PASS	0.562	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			38	12	38	12	---	---	---	---
UBD	10537	broad.mit.edu	37	6	29524035	29524035	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:29524035C>G	ENST00000377050.4	-	2	343	c.120G>C	c.(118-120)aaG>aaC	p.K40N	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	40	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)	p.K40N(2)		kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GAACCTTGGTCTTAGACCGGA	0.473																																						uc003nmo.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)		0						c.(118-120)AAG>AAC		ubiquitin D							93.0	74.0	81.0					6																	29524035		1511	2709	4220	SO:0001583	missense	10537				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	g.chr6:29524035C>G	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.120G>C	6.37:g.29524035C>G	ENSP00000366249:p.Lys40Asn					GABBR1_uc003nmp.3_3'UTR	p.K40N	NM_006398	NP_006389	O15205	UBD_HUMAN			2	344	-			40			Ubiquitin 1.		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	c.120G>C	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806062	0.50421	.	.	ENSG00000213886	ENST00000377050	T	0.75589	-0.95	5.17	1.27	0.21489	Ubiquitin supergroup (1);Ubiquitin (2);	0.220262	0.21923	U	0.067126	T	0.66839	0.2830	M	0.78285	2.405	0.58432	D	0.999999	P	0.47034	0.889	P	0.51266	0.664	T	0.67503	-0.5654	10	0.87932	D	0	-15.0296	2.9777	0.05943	0.0:0.3892:0.2281:0.3827	.	40	O15205	UBD_HUMAN	N	40	ENSP00000366249:K40N	ENSP00000366249:K40N	K	-	3	2	UBD	29632014	0.370000	0.25047	0.683000	0.30040	0.616000	0.37450	-0.096000	0.11059	0.346000	0.23899	-0.222000	0.12452	AAG		PASS	0.473	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			26	26	26	26	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29577154	29577154	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:29577154C>A	ENST00000377034.4	-	15	2046	c.1711G>T	c.(1711-1713)Ggg>Tgg	p.G571W	GABBR1_ENST00000377016.4_Missense_Mutation_p.G509W|GABBR1_ENST00000355973.3_Missense_Mutation_p.G454W|GABBR1_ENST00000377012.4_Missense_Mutation_p.G454W|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	571					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.G571W(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGGGGGGACCCTCCTGCATGG	0.527																																						uc003nmt.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)|skin(1)	7						c.(1711-1713)GGG>TGG		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						70.0	62.0	65.0					6																	29577154		1509	2708	4217	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29577154C>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1711G>T	6.37:g.29577154C>A	ENSP00000366233:p.Gly571Trp					GABBR1_uc003nmp.3_Missense_Mutation_p.G454W|GABBR1_uc003nms.3_Missense_Mutation_p.G454W|GABBR1_uc003nmu.3_Missense_Mutation_p.G509W|GABBR1_uc011dlr.1_Missense_Mutation_p.G394W|GABBR1_uc011dls.1_Intron	p.G571W	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			15	2047	-			571			Extracellular (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1711G>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426356	0.83667	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.63	5.63	0.86233	.	0.432974	0.24492	N	0.038054	D	0.83225	0.5208	M	0.73962	2.25	0.80722	D	1	D;D;D	0.65815	0.993;0.995;0.985	P;P;P	0.56343	0.796;0.701;0.527	D	0.84836	0.0805	10	0.87932	D	0	-16.6172	17.5464	0.87863	0.0:1.0:0.0:0.0	.	509;571;454	Q9UBS5-3;Q9UBS5;Q5SUJ9	.;GABR1_HUMAN;.	W	454;509;454;571	ENSP00000348248:G454W;ENSP00000366215:G509W;ENSP00000366211:G454W;ENSP00000366233:G571W	ENSP00000348248:G454W	G	-	1	0	GABBR1	29685133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.415000	0.66411	2.826000	0.97356	0.655000	0.94253	GGG		PASS	0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			35	19	35	19	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627135	29627135	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:29627135C>T	ENST00000376917.3	+	2	357	c.128C>T	c.(127-129)gCt>gTt	p.A43V	MOG_ENST00000376891.4_Missense_Mutation_p.A43V|MOG_ENST00000376902.3_Missense_Mutation_p.A43V|MOG_ENST00000396701.2_Missense_Mutation_p.A43V|MOG_ENST00000376898.3_Missense_Mutation_p.A43V|MOG_ENST00000494692.1_Missense_Mutation_p.A43V|MOG_ENST00000533330.2_Missense_Mutation_p.A43V|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Missense_Mutation_p.A43V|MOG_ENST00000416766.2_Missense_Mutation_p.A43V|MOG_ENST00000483013.1_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.A43V|MOG_ENST00000490427.1_Intron|MOG_ENST00000376894.4_Missense_Mutation_p.A43V|MOG_ENST00000376888.2_Intron	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	43	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A43V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCTATCCGGGCTCTGGTCGGG	0.557																																						uc003nnf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(127-129)GCT>GTT		myelin oligodendrocyte glycoprotein isoform							206.0	225.0	218.0					6																	29627135		1510	2709	4219	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627135C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.128C>T	6.37:g.29627135C>T	ENSP00000366115:p.Ala43Val					MOG_uc003qzk.1_Missense_Mutation_p.A43V|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Missense_Mutation_p.A43V|MOG_uc003nmz.2_Missense_Mutation_p.A43V|MOG_uc011dlt.1_5'UTR|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Missense_Mutation_p.A43V|MOG_uc003nne.2_Missense_Mutation_p.A43V|MOG_uc003nng.2_Missense_Mutation_p.A43V|MOG_uc003nnh.2_Missense_Mutation_p.A43V|MOG_uc003nni.2_Missense_Mutation_p.A43V|MOG_uc003nnj.2_Missense_Mutation_p.A43V|MOG_uc003nnk.2_Missense_Mutation_p.A43V	p.A43V	NM_206809	NP_996532	Q16653	MOG_HUMAN			2	306	+			43			Ig-like V-type.|Extracellular (Potential).		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.128C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351623	0.61183	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.87	5.0	0.66597	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.54695	0.1874	L	0.31845	0.965	0.39103	D	0.961318	D;D;D;D;D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.953;1.0	D;D;D;D;D;D;D;D;B;D	0.97110	0.997;0.997;0.997;0.998;0.996;0.996;0.999;0.999;0.249;1.0	T	0.57923	-0.7727	10	0.36615	T	0.2	.	13.1777	0.59637	0.0:0.9221:0.0:0.0779	.	43;43;43;43;43;43;43;43;43;43	C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;MOG_HUMAN;.;.;.	V	43	ENSP00000366115:A43V;ENSP00000366100:A43V;ENSP00000431709:A43V;ENSP00000366091:A43V;ENSP00000409394:A43V;ENSP00000366088:A43V;ENSP00000366095:A43V;ENSP00000410866:A43V;ENSP00000379929:A43V;ENSP00000417405:A43V;ENSP00000379932:A43V	ENSP00000366088:A43V	A	+	2	0	MOG	29735114	0.995000	0.38212	0.986000	0.45419	0.429000	0.31625	3.887000	0.56197	1.480000	0.48289	0.655000	0.94253	GCT		PASS	0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		55	168	55	168	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32017776	32017776	+	Splice_Site	SNP	C	C	G	rs202162469		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:32017776C>G	ENST00000375244.3	-	27	9639	c.9438G>C	c.(9436-9438)acG>acC	p.T3146T	TNXB_ENST00000375247.2_Splice_Site_p.T3144T			P22105	TENX_HUMAN	tenascin XB	3191	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.T3211T(1)|p.T3146T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTCACTCACCCGTCACCCCAA	0.602																																						uc003nzl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(9430-9432)ACG>ACC		tenascin XB isoform 1 precursor							61.0	67.0	65.0					6																	32017776		1270	2549	3819	SO:0001630	splice_region_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017776C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9439+1G>C	6.37:g.32017776C>G							p.T3144T	NM_019105	NP_061978	P22105	TENX_HUMAN			27	9634	-			3191					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9432G>C																																																																																					PASS	0.602	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	Silent	6	71	6	71	---	---	---	---
HLA-DRB5	3127	broad.mit.edu	37	6	32497990	32497990	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:32497990C>G	ENST00000374975.3	-	1	74	c.12G>C	c.(10-12)ctG>ctC	p.L4L		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.L4L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CAGGGAGCTTCAGACACACCA	0.567																																						uc003obj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(10-12)CTG>CTC		major histocompatibility complex, class II, DR																																				SO:0001819	synonymous_variant	3127				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32497990C>G		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.12G>C	6.37:g.32497990C>G						HLA-DRB1_uc011dqa.1_Intron|HLA-DRB5_uc003obk.3_Intron	p.L4L	NM_002125	NP_002116	Q30154	DRB5_HUMAN			1	17	-			4						Silent	SNP	ENST00000374975.3	37	c.12G>C	CCDS4751.1																																																																																				PASS	0.567	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		13	142	13	142	---	---	---	---
ZBTB22	9278	broad.mit.edu	37	6	33284035	33284035	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:33284035G>T	ENST00000431845.2	-	2	810	c.659C>A	c.(658-660)tCc>tAc	p.S220Y	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.S220Y|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	220					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.S220Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTCTTGGGAGGAAGATGAGAA	0.617																																						uc003oeb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)TCC>TAC		zinc finger and BTB domain containing 22							47.0	53.0	51.0					6																	33284035		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284035G>T	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.659C>A	6.37:g.33284035G>T	ENSP00000407545:p.Ser220Tyr					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.S220Y	p.S220Y	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	811	-			220					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.659C>A	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.919018	0.33908	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06528	3.29;3.29	4.37	4.37	0.52481	.	0.258374	0.20568	N	0.089798	T	0.02193	0.0068	N	0.19112	0.55	0.37874	D	0.930149	P	0.42039	0.769	B	0.37387	0.248	T	0.51293	-0.8724	10	0.72032	D	0.01	.	12.3638	0.55217	0.0:0.0:1.0:0.0	.	220	O15209	ZBT22_HUMAN	Y	220	ENSP00000404403:S220Y;ENSP00000407545:S220Y	ENSP00000404403:S220Y	S	-	2	0	ZBTB22	33392013	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	2.909000	0.48758	2.277000	0.76020	0.545000	0.68477	TCC		PASS	0.617	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			8	53	8	53	---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33641418	33641418	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:33641418C>G	ENST00000374316.5	+	24	4039	c.2979C>G	c.(2977-2979)gtC>gtG	p.V993V	ITPR3_ENST00000605930.1_Silent_p.V993V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	993					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|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)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.V993V(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGCTGTCTGTCTTCAAGAAGG	0.552																																						uc011drk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(2977-2979)GTC>GTG		inositol 1,4,5-triphosphate receptor, type 3							268.0	230.0	243.0					6																	33641418		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33641418C>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2979C>G	6.37:g.33641418C>G							p.V993V	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			23	3198	+			993			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.2979C>G	CCDS4783.1																																																																																				PASS	0.552	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		86	74	86	74	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43403589	43403589	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:43403589G>A	ENST00000372530.4	+	5	1924	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R527Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCCTTGGACCGGATCCAGCTT	0.567																																						uc003ouy.1																			2	Substitution - Missense(2)		prostate(1)|lung(1)	ovary(6)|central_nervous_system(1)	7						c.(1708-1710)CGG>CAG		ATP-binding cassette, sub-family C, member 10							113.0	102.0	106.0					6																	43403589		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403589G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1709G>A	6.37:g.43403589G>A	ENSP00000361608:p.Arg570Gln					ABCC10_uc003ouz.1_Missense_Mutation_p.R527Q|ABCC10_uc010jyo.1_5'UTR	p.R570Q	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		5	1924	+	all_lung(25;0.00536)		570					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1709G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126887	0.94429	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97161	-4.27;-3.92;-3.92	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:0.0:1.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Q	126;570;527	ENSP00000361593:R126Q;ENSP00000361608:R570Q;ENSP00000244533:R527Q	ENSP00000244533:R527Q	R	+	2	0	ABCC10	43511567	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.835000	0.99442	2.492000	0.84095	0.462000	0.41574	CGG		PASS	0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		13	71	13	71	---	---	---	---
YIPF3	25844	broad.mit.edu	37	6	43480033	43480033	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:43480033C>A	ENST00000372422.2	-	9	1107	c.925G>T	c.(925-927)Ggc>Tgc	p.G309C	YIPF3_ENST00000506469.1_Missense_Mutation_p.G315C|LRRC73_ENST00000372441.1_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	309					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)		p.G309C(1)		large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ATGTTGGGGCCCTCCAGTGTG	0.612																																						uc003ovl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(925-927)GGC>TGC		natural killer cell-specific antigen KLIP1							70.0	78.0	75.0					6																	43480033		2203	4300	6503	SO:0001583	missense	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43480033C>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.925G>T	6.37:g.43480033C>A	ENSP00000361499:p.Gly309Cys					C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.G274C|YIPF3_uc010jyr.1_Missense_Mutation_p.G315C|YIPF3_uc010jys.1_Missense_Mutation_p.G152C|YIPF3_uc003ovm.1_Missense_Mutation_p.G183C|YIPF3_uc010jyt.1_Missense_Mutation_p.G220C	p.G309C	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		9	1082	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		309					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	37	c.925G>T	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247693	0.80024	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469	T;T	0.60171	0.33;0.21	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	L	0.32530	0.975	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;0.998;1.0	T	0.65813	-0.6077	10	0.87932	D	0	-15.7727	16.8821	0.86066	0.0:1.0:0.0:0.0	.	220;315;274;309	D6RED8;E7EQR8;Q5JTD5;Q9GZM5	.;.;.;YIPF3_HUMAN	C	309;220;315	ENSP00000361499:G309C;ENSP00000425494:G315C	ENSP00000361499:G309C	G	-	1	0	YIPF3	43588011	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.984000	0.63838	2.667000	0.90743	0.561000	0.74099	GGC		PASS	0.612	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		41	37	41	37	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46656656	46656656	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:46656656G>T	ENST00000316081.6	+	1	791	c.791G>T	c.(790-792)cGc>cTc	p.R264L	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R264L|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	264					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.R264L(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CATCCCCACCGCATTCACTGC	0.622																																						uc003oyj.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(790-792)CGC>CTC		tudor domain containing 6							31.0	26.0	28.0					6																	46656656		2202	4300	6502	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656656G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.791G>T	6.37:g.46656656G>T	ENSP00000346065:p.Arg264Leu					TDRD6_uc010jze.2_Missense_Mutation_p.R258L	p.R264L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	791	+			264					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.791G>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926127	0.73327	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10005	2.92;2.92	6.07	6.07	0.98685	Maternal tudor protein (1);	0.406072	0.24681	N	0.036461	T	0.18551	0.0445	L	0.52759	1.655	0.38717	D	0.953363	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.00436	-1.1740	10	0.37606	T	0.19	-14.9224	14.754	0.69549	0.0703:0.0:0.9297:0.0	.	264;264	F5H5M3;O60522	.;TDRD6_HUMAN	L	264	ENSP00000443299:R264L;ENSP00000346065:R264L	ENSP00000346065:R264L	R	+	2	0	TDRD6	46764615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.147000	0.58078	2.884000	0.98904	0.655000	0.94253	CGC		PASS	0.622	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		5	27	5	27	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47846520	47846520	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:47846520C>G	ENST00000339488.4	-	3	2093	c.2060G>C	c.(2059-2061)tGg>tCg	p.W687S		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	687						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.W687S(1)									AAGAATTAGCCAGAAGTTTCC	0.458																																						uc011dwm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2008-2010)TGG>TCG		hypothetical protein LOC442213							77.0	76.0	77.0					6																	47846520		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846520C>G		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2060G>C	6.37:g.47846520C>G	ENSP00000341914:p.Trp687Ser					C6orf138_uc011dwn.1_Missense_Mutation_p.W434S	p.W670S	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	2094	-			687			Helical; (Potential).		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2009G>C	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206729	0.58343	.	.	ENSG00000244694	ENST00000339488	D	0.85411	-1.98	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.88800	0.6535	M	0.71036	2.16	0.80722	D	1	P	0.49307	0.922	P	0.58577	0.841	D	0.84544	0.0640	10	0.22109	T	0.4	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	687	Q6ZW05	CF138_HUMAN	S	687	ENSP00000341914:W687S	ENSP00000341914:W687S	W	-	2	0	C6orf138	47954479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.814000	0.96858	0.650000	0.86243	TGG		PASS	0.458	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		13	131	13	131	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47847511	47847511	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:47847511G>T	ENST00000339488.4	-	3	1102	c.1069C>A	c.(1069-1071)Cca>Aca	p.P357T		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	357	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.P357T(2)									TTTGTGAATGGGCTGGCACCC	0.453																																						uc011dwm.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1018-1020)CCA>ACA		hypothetical protein LOC442213							73.0	73.0	73.0					6																	47847511		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847511G>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1069C>A	6.37:g.47847511G>T	ENSP00000341914:p.Pro357Thr					C6orf138_uc011dwn.1_Missense_Mutation_p.P104T	p.P340T	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1103	-			357			SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1018C>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166083	0.38217	.	.	ENSG00000244694	ENST00000339488	D	0.91577	-2.87	5.42	5.42	0.78866	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.91345	0.7270	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.88134	0.2840	10	0.06099	T	0.92	.	19.2304	0.93836	0.0:0.0:1.0:0.0	.	357	Q6ZW05	CF138_HUMAN	T	357	ENSP00000341914:P357T	ENSP00000341914:P357T	P	-	1	0	C6orf138	47955470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.555000	0.86185	0.650000	0.86243	CCA		PASS	0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		28	43	28	43	---	---	---	---
DEFB110	245913	broad.mit.edu	37	6	49986761	49986761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:49986761G>A	ENST00000371148.2	-	2	178	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	45					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.Q45*(1)		endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TCATGACACTGATTTTTACAT	0.398																																						uc003pac.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(133-135)CAG>TAG		beta-defensin 110 isoform a							177.0	154.0	161.0					6																	49986761		2203	4300	6503	SO:0001587	stop_gained	245913				defense response to bacterium	extracellular region		g.chr6:49986761G>A	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.133C>T	6.37:g.49986761G>A	ENSP00000360190:p.Gln45*					DEFB110_uc011dwr.1_Intron	p.Q45*	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN			2	179	-	Lung NSC(77;0.042)		45					Q30KR0	Nonsense_Mutation	SNP	ENST00000371148.2	37	c.133C>T	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	G	2.491	-0.317329	0.05386	.	.	ENSG00000203970	ENST00000371148	.	.	.	4.77	-4.54	0.03452	.	0.965604	0.08510	N	0.935023	.	.	.	.	.	.	0.48975	D	0.99973	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1946	8.7765	0.34765	0.2112:0.3965:0.3923:0.0	.	.	.	.	X	45	.	.	Q	-	1	0	DEFB110	50094720	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.031000	0.12287	-0.659000	0.05359	-0.951000	0.02657	CAG		PASS	0.398	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		39	58	39	58	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51799118	51799118	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:51799118C>T	ENST00000371117.3	-	37	6186	c.5911G>A	c.(5911-5913)Ggc>Agc	p.G1971S	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1971S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1971	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.		G -> D (in ARPKD; dbSNP:rs180675584). {ECO:0000269|PubMed:12874454}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G1971S(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCAGCTTGCCCCCTAATGGA	0.498											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5911-5913)GGC>AGC		fibrocystin isoform 1							76.0	71.0	73.0					6																	51799118		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51799118C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5911G>A	6.37:g.51799118C>T	ENSP00000360158:p.Gly1971Ser		OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	980	PKHD1_uc010jzn.1_5'UTR|PKHD1_uc003pai.2_Missense_Mutation_p.G1971S	p.G1971S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			37	6187	-	Lung NSC(77;0.0605)		1971		G -> D (in ARPKD).	Extracellular (Potential).|G8 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5911G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491301	0.96339	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.94828	-3.53;-3.53	5.59	5.59	0.84812	G8 domain (2);	0.142197	0.48767	N	0.000165	D	0.97167	0.9074	M	0.80508	2.5	0.45791	D	0.998673	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97456	1.0031	10	0.72032	D	0.01	.	18.5894	0.91204	0.0:1.0:0.0:0.0	.	1971;1971	P08F94-2;P08F94	.;PKHD1_HUMAN	S	1971	ENSP00000360158:G1971S;ENSP00000341097:G1971S	ENSP00000341097:G1971S	G	-	1	0	PKHD1	51907077	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.835000	0.69368	2.612000	0.88384	0.655000	0.94253	GGC		PASS	0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	71	6	71	---	---	---	---
ELOVL5	60481	broad.mit.edu	37	6	53135398	53135398	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:53135398T>A	ENST00000542638.1	-	7	1196	c.749A>T	c.(748-750)tAc>tTc	p.Y250F	ELOVL5_ENST00000304434.6_Missense_Mutation_p.Y250F|ELOVL5_ENST00000370918.4_Missense_Mutation_p.Y240F|ELOVL5_ENST00000541407.1_Missense_Mutation_p.Y277F			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	250				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)	p.Y250F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TACCTGAATGTAGAAGTTTGT	0.478																																						uc003pbq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(748-750)TAC>TTC		elongation of very long chain fatty acids-like							68.0	62.0	64.0					6																	53135398		2203	4300	6503	SO:0001583	missense	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53135398T>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.749A>T	6.37:g.53135398T>A	ENSP00000440728:p.Tyr250Phe					ELOVL5_uc003pbr.1_Missense_Mutation_p.Y250F|ELOVL5_uc011dwx.1_Missense_Mutation_p.Y277F|ELOVL5_uc003pbs.1_Silent_p.L208L|ELOVL5_uc003pbt.3_RNA	p.Y250F	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN			7	1197	-	Lung NSC(77;0.116)		250	YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).				B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	ENST00000542638.1	37	c.749A>T	CCDS4951.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668297	0.88348	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.94	5.94	0.96194	.	.	.	.	.	T	0.41305	0.1153	.	.	.	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.919;1.0	T	0.39099	-0.9630	8	0.62326	D	0.03	-11.2566	16.4445	0.83913	0.0:0.0:0.0:1.0	.	277;250	F6SH78;Q9NYP7	.;ELOV5_HUMAN	F	240;250;250;277	ENSP00000359956:Y240F;ENSP00000306640:Y250F;ENSP00000440728:Y250F;ENSP00000438095:Y277F	ENSP00000306640:Y250F	Y	-	2	0	ELOVL5	53243357	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	7.989000	0.88205	2.284000	0.76573	0.529000	0.55759	TAC		PASS	0.478	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		5	56	5	56	---	---	---	---
ELOVL5	60481	broad.mit.edu	37	6	53160466	53160466	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:53160466T>C	ENST00000542638.1	-	2	479	c.32A>G	c.(31-33)tAt>tGt	p.Y11C	ELOVL5_ENST00000304434.6_Missense_Mutation_p.Y11C|ELOVL5_ENST00000370918.4_Missense_Mutation_p.Y11C|ELOVL5_ENST00000541407.1_Missense_Mutation_p.Y11C|ELOVL5_ENST00000370913.5_Missense_Mutation_p.Y11C|ELOVL5_ENST00000486973.1_5'UTR			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	11					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)	p.Y11C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGCCTTGAAATAGGTACTAAG	0.353																																						uc003pbq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)TAT>TGT		elongation of very long chain fatty acids-like							126.0	96.0	106.0					6																	53160466		2203	4300	6503	SO:0001583	missense	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53160466T>C	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.32A>G	6.37:g.53160466T>C	ENSP00000440728:p.Tyr11Cys					ELOVL5_uc003pbr.1_Missense_Mutation_p.Y11C|ELOVL5_uc011dwx.1_Missense_Mutation_p.Y11C|ELOVL5_uc003pbs.1_Missense_Mutation_p.Y11C|ELOVL5_uc003pbu.2_Missense_Mutation_p.Y11C|ELOVL5_uc011dwy.1_RNA	p.Y11C	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN			2	480	-	Lung NSC(77;0.116)		11					B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	ENST00000542638.1	37	c.32A>G	CCDS4951.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198972	0.79015	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407;ENST00000370913	T;T;T;T	0.24723	1.88;1.84;1.84;1.86	5.66	5.66	0.87406	.	0.159245	0.64402	D	0.000016	T	0.51907	0.1702	M	0.91872	3.25	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;1.0;0.991;0.992	D;D;P;P	0.91635	0.927;0.999;0.76;0.88	T	0.63695	-0.6579	10	0.72032	D	0.01	-7.498	13.9419	0.64059	0.0:0.0:0.0:1.0	.	11;11;11;11	F6SH78;Q5TGH5;B3KWH9;Q9NYP7	.;.;.;ELOV5_HUMAN	C	11	ENSP00000359956:Y11C;ENSP00000306640:Y11C;ENSP00000440728:Y11C;ENSP00000438095:Y11C	ENSP00000306640:Y11C	Y	-	2	0	ELOVL5	53268425	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.493000	0.66899	2.285000	0.76669	0.533000	0.62120	TAT		PASS	0.353	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		6	39	6	39	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55196525	55196525	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:55196525G>T	ENST00000340465.2	+	2	121	c.35G>T	c.(34-36)aGc>aTc	p.S12I		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	12					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S12I(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATGGGGTTAAGCTTGGAAAAT	0.323																																						uc003pcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(34-36)AGC>ATC		GDNF family receptor alpha like precursor							85.0	82.0	83.0					6																	55196525		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55196525G>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.35G>T	6.37:g.55196525G>T	ENSP00000343636:p.Ser12Ile						p.S12I	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	121	+	Lung NSC(77;0.0875)|Renal(3;0.122)		12					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.35G>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	G	5.972	0.363360	0.11296	.	.	ENSG00000187871	ENST00000340465	T	0.33438	1.41	4.91	1.45	0.22620	.	1.269020	0.05168	N	0.499028	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.32745	-0.9895	10	0.41790	T	0.15	-4.9037	3.4381	0.07453	0.1072:0.1689:0.5514:0.1725	.	12	Q6UXV0	GFRAL_HUMAN	I	12	ENSP00000343636:S12I	ENSP00000343636:S12I	S	+	2	0	GFRAL	55304484	0.039000	0.19947	0.043000	0.18650	0.386000	0.30323	0.090000	0.15025	0.430000	0.26230	0.460000	0.39030	AGC		PASS	0.323	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		37	47	37	47	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55264069	55264069	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:55264069C>T	ENST00000340465.2	+	7	1130	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	348					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F348F(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTCCCCCTTCAATGGTCAGT	0.299																																						uc003pcm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1042-1044)TTC>TTT		GDNF family receptor alpha like precursor							30.0	29.0	30.0					6																	55264069		2202	4294	6496	SO:0001819	synonymous_variant	389400					integral to membrane	receptor activity	g.chr6:55264069C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.1044C>T	6.37:g.55264069C>T							p.F348F	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		7	1130	+	Lung NSC(77;0.0875)|Renal(3;0.122)		348			Extracellular (Potential).		Q5VTF6	Silent	SNP	ENST00000340465.2	37	c.1044C>T	CCDS4957.1																																																																																				PASS	0.299	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		10	12	10	12	---	---	---	---
BMP5	653	broad.mit.edu	37	6	55623910	55623910	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:55623910A>G	ENST00000370830.3	-	6	1806	c.1108T>C	c.(1108-1110)Tgg>Cgg	p.W370R	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	370					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.W370R(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTATAATCCAGTCCTGacac	0.323																																						uc003pcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1108-1110)TGG>CGG		bone morphogenetic protein 5 preproprotein							133.0	115.0	121.0					6																	55623910		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55623910A>G		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1108T>C	6.37:g.55623910A>G	ENSP00000359866:p.Trp370Arg					BMP5_uc011dxf.1_Intron	p.W370R	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		6	1820	-	Lung NSC(77;0.0462)		370					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1108T>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493714	0.84962	.	.	ENSG00000112175	ENST00000370830	D	0.93019	-3.15	5.67	5.67	0.87782	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99271	1.0893	10	0.87932	D	0	.	16.2014	0.82084	1.0:0.0:0.0:0.0	.	370	P22003	BMP5_HUMAN	R	370	ENSP00000359866:W370R	ENSP00000359866:W370R	W	-	1	0	BMP5	55731869	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	TGG		PASS	0.323	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			6	63	6	63	---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56918885	56918885	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:56918885A>G	ENST00000370733.4	+	4	1795	c.1588A>G	c.(1588-1590)Att>Gtt	p.I530V	KIAA1586_ENST00000545356.1_Missense_Mutation_p.I503V	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	530							nucleic acid binding (GO:0003676)	p.I530V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGCTTTAATGATTGACATTCT	0.313																																						uc003pdj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1588-1590)ATT>GTT		hypothetical protein LOC57691							41.0	42.0	42.0					6																	56918885		2133	4273	6406	SO:0001583	missense	57691						nucleic acid binding	g.chr6:56918885A>G	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1588A>G	6.37:g.56918885A>G	ENSP00000359768:p.Ile530Val					KIAA1586_uc011dxm.1_Missense_Mutation_p.I503V	p.I530V	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	1758	+	Lung NSC(77;0.0969)		530					A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	c.1588A>G	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	a	2.341	-0.351145	0.05173	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.19669	2.13;2.13	3.7	2.53	0.30540	Ribonuclease H-like (1);	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.19775	N	0.999952	B;B	0.32573	0.376;0.376	B;B	0.25140	0.058;0.058	T	0.43360	-0.9396	9	0.14252	T	0.57	-5.6733	5.5956	0.17325	0.8713:0.0:0.1287:0.0	.	503;530	F5H2N6;Q9HCI6	.;K1586_HUMAN	V	530;503	ENSP00000359768:I530V;ENSP00000445507:I503V	ENSP00000359768:I530V	I	+	1	0	KIAA1586	57026844	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.395000	0.34520	0.602000	0.29896	0.477000	0.44152	ATT		PASS	0.313	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		21	48	21	48	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66112499	66112499	+	Splice_Site	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:66112499C>A	ENST00000370621.3	-	7	1583		c.e7-1		EYS_ENST00000342421.5_Splice_Site|EYS_ENST00000370616.2_Splice_Site|EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000503581.1_Splice_Site|EYS_ENST00000393380.2_Splice_Site			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						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.?(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						ACATAACATCCTAGGAAAGAT	0.303																																						uc011dxu.1																			2	Unknown(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.e7-1		eyes shut homolog isoform 1							43.0	44.0	43.0					6																	66112499		2201	4280	6481	SO:0001630	splice_region_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66112499C>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.1057-1G>T	6.37:g.66112499C>A						EYS_uc003peq.2_Splice_Site_p.D353_splice|EYS_uc003per.1_Splice_Site_p.D353_splice	p.D353_splice	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			7	1595	-								A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Splice_Site	SNP	ENST00000370621.3	37	c.1057_splice		.	.	.	.	.	.	.	.	.	.	C	9.846	1.192316	0.21954	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.1	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.243	0.37509	0.0:0.8978:0.0:0.1022	.	.	.	.	.	-1	.	.	.	-	.	.	EYS	66169220	1.000000	0.71417	0.016000	0.15963	0.036000	0.12997	4.269000	0.58890	0.714000	0.32081	0.591000	0.81541	.		PASS	0.303	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	Intron	5	24	5	24	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70778345	70778345	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:70778345C>A	ENST00000322773.4	+	15	1303	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P23T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	401	Collagen-like 3.|Triple-helical region 2 (COL2).				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.P401T(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						CCCCCAAGGTCCACCTGGAAA	0.438																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1201-1203)CCA>ACA		alpha 1 type XIX collagen precursor							103.0	95.0	97.0					6																	70778345		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.chr6:70778345C>A		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.1201C>A	6.37:g.70778345C>A	ENSP00000316030:p.Pro401Thr					COL19A1_uc010kam.1_Missense_Mutation_p.P297T	p.P401T	NM_001858	NP_001849	Q14993	COJA1_HUMAN			15	1318	+			401			Triple-helical region 2 (COL2).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1201C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930768	0.34096	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.96651	-4.08;-3.82	5.18	5.18	0.71444	.	0.078265	0.52532	D	0.000077	D	0.96377	0.8818	M	0.64404	1.975	0.33794	D	0.625801	D	0.89917	1.0	D	0.91635	0.999	D	0.94606	0.7800	10	0.17369	T	0.5	.	14.1772	0.65549	0.0:1.0:0.0:0.0	.	401	Q14993	COJA1_HUMAN	T	401;23	ENSP00000316030:P401T;ENSP00000377013:P23T	ENSP00000316030:P401T	P	+	1	0	COL19A1	70835066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.488000	0.60300	2.418000	0.82041	0.591000	0.81541	CCA		PASS	0.438	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			20	28	20	28	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75857502	75857502	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:75857502C>T	ENST00000322507.8	-	23	4615	c.4306G>A	c.(4306-4308)Gaa>Aaa	p.E1436K	COL12A1_ENST00000483888.2_Missense_Mutation_p.E1436K|COL12A1_ENST00000345356.6_Missense_Mutation_p.E272K|COL12A1_ENST00000416123.2_Missense_Mutation_p.E1436K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1436	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.E1436K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGCTAGTTTCCATTCGACTC	0.373																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(4306-4308)GAA>AAA		collagen, type XII, alpha 1 long isoform							157.0	147.0	150.0					6																	75857502		1847	4088	5935	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75857502C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4306G>A	6.37:g.75857502C>T	ENSP00000325146:p.Glu1436Lys					COL12A1_uc003pht.2_Missense_Mutation_p.E272K	p.E1436K	NM_004370	NP_004361	Q99715	COCA1_HUMAN			23	4472	-			1436			Fibronectin type-III 9.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.4306G>A	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.83|12.83	2.056747|2.056747	0.36277|0.36277	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.58797|.	0.31;0.31;0.31;0.31|.	4.6|4.6	4.6|4.6	0.57074|0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.270973|.	0.35013|.	N|.	0.003518|.	T|T	0.43831|0.43831	0.1265|0.1265	L|L	0.28054|0.28054	0.825|0.825	0.44247|0.44247	D|D	0.997092|0.997092	B;B|.	0.18166|.	0.006;0.026|.	B;B|.	0.23018|.	0.029;0.043|.	T|T	0.39461|0.39461	-0.9613|-0.9613	10|5	0.35671|.	T|.	0.21|.	.|.	17.7761|17.7761	0.88508|0.88508	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	272;1436|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	K|E	1436;1436;272;1436;1436|177	ENSP00000325146:E1436K;ENSP00000305147:E272K;ENSP00000412864:E1436K;ENSP00000421216:E1436K|.	ENSP00000325146:E1436K|.	E|G	-|-	1|2	0|0	COL12A1|COL12A1	75914222|75914222	1.000000|1.000000	0.71417|0.71417	0.351000|0.351000	0.25721|0.25721	0.080000|0.080000	0.17528|0.17528	4.919000|4.919000	0.63383|0.63383	2.262000|2.262000	0.75019|0.75019	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		43	52	43	52	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85448296	85448296	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:85448296C>T	ENST00000369663.5	-	7	1355	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T	TBX18_ENST00000606784.1_Missense_Mutation_p.A182T	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	340					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A340T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCCACCAAGGCTTCCAAACCC	0.453																																						uc003pkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1018-1020)GCC>ACC		T-box 18							157.0	146.0	150.0					6																	85448296		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85448296C>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1018G>A	6.37:g.85448296C>T	ENSP00000358677:p.Ala340Thr					TBX18_uc010kbq.1_Missense_Mutation_p.A182T	p.A340T	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	7	1018	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	340					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1018G>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603798	0.96626	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.87887	-2.31	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.76071	0.893;0.987	D	0.86123	0.1570	10	0.33940	T	0.23	.	20.3046	0.98621	0.0:1.0:0.0:0.0	.	256;340	Q8IW86;O95935	.;TBX18_HUMAN	T	255;340	ENSP00000358677:A340T	ENSP00000358677:A340T	A	-	1	0	TBX18	85505015	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.445000	0.80570	2.878000	0.98634	0.650000	0.86243	GCC		PASS	0.453	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		44	118	44	118	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88144698	88144698	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:88144698C>A	ENST00000507897.1	+	11	1504	c.1421C>A	c.(1420-1422)gCc>gAc	p.A474D	C6ORF165_ENST00000369562.4_Missense_Mutation_p.A474D			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	474								p.A474D(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAGAAAAGGCCAAAAAAAAT	0.269																																						uc003plv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1420-1422)GCC>GAC		hypothetical protein LOC154313 isoform 1							58.0	62.0	60.0					6																	88144698		2202	4295	6497	SO:0001583	missense	154313							g.chr6:88144698C>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1421C>A	6.37:g.88144698C>A	ENSP00000426769:p.Ala474Asp					SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Missense_Mutation_p.A286D|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.A474D	p.A474D	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1513	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	474					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1421C>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188801	0.78789	.	.	ENSG00000213204	ENST00000369562	T	0.38077	1.16	4.87	4.87	0.63330	.	0.050145	0.85682	D	0.000000	T	0.55673	0.1935	M	0.79475	2.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.63359	-0.6655	10	0.87932	D	0	.	17.6378	0.88128	0.0:1.0:0.0:0.0	.	474	Q8IYR0	CF165_HUMAN	D	474	ENSP00000358575:A474D	ENSP00000358575:A474D	A	+	2	0	C6orf165	88201417	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	6.329000	0.72920	2.217000	0.71921	0.491000	0.48974	GCC		PASS	0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		11	38	11	38	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90472117	90472117	+	Silent	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:90472117T>C	ENST00000369393.3	-	16	2392	c.2277A>G	c.(2275-2277)aaA>aaG	p.K759K	MDN1_ENST00000428876.1_Silent_p.K759K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	759					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.K759K(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATGCCACCGTTTCTGTCTGT	0.453																																						uc003pnn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)	10						c.(2275-2277)AAA>AAG		MDN1, midasin homolog							177.0	161.0	166.0					6																	90472117		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90472117T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2277A>G	6.37:g.90472117T>C						MDN1_uc003pno.1_Silent_p.K177K	p.K759K	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	16	2393	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	759					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.2277A>G	CCDS5024.1																																																																																				PASS	0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			32	78	32	78	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90482321	90482321	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:90482321G>C	ENST00000369393.3	-	14	2169	c.2054C>G	c.(2053-2055)tCt>tGt	p.S685C	MDN1_ENST00000428876.1_Missense_Mutation_p.S685C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	685					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S685C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGGATGGTAGAGGTTTTGCC	0.473																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(2053-2055)TCT>TGT		MDN1, midasin homolog							134.0	135.0	135.0					6																	90482321		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90482321G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2054C>G	6.37:g.90482321G>C	ENSP00000358400:p.Ser685Cys					MDN1_uc003pno.1_Missense_Mutation_p.S103C	p.S685C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	14	2170	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	685					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2054C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457242	0.43634	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.47177	0.85;0.85;0.85	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.997;0.998	T	0.80276	-0.1450	10	0.72032	D	0.01	.	19.7199	0.96137	0.0:0.0:1.0:0.0	.	612;685	Q5T795;Q9NU22	.;MDN1_HUMAN	C	685;685;612	ENSP00000358400:S685C;ENSP00000413970:S685C;ENSP00000409664:S612C	ENSP00000358400:S685C	S	-	2	0	MDN1	90539042	1.000000	0.71417	0.978000	0.43139	0.159000	0.22180	9.628000	0.98415	2.665000	0.90641	0.650000	0.86243	TCT		PASS	0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			36	74	36	74	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90482391	90482391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:90482391G>A	ENST00000369393.3	-	14	2099	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q662*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	662					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.Q662*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACTGCAAGCTGCTCGATGAGA	0.517																																						uc003pnn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|skin(2)	10						c.(1984-1986)CAG>TAG		MDN1, midasin homolog							112.0	114.0	113.0					6																	90482391		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90482391G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1984C>T	6.37:g.90482391G>A	ENSP00000358400:p.Gln662*					MDN1_uc003pno.1_Nonsense_Mutation_p.Q80*	p.Q662*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	14	2100	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	662					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.1984C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	40	8.338838	0.98767	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.315	0.94208	0.0:0.0:1.0:0.0	.	.	.	.	X	662;662;589	.	ENSP00000358400:Q662X	Q	-	1	0	MDN1	90539112	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	9.421000	0.97455	2.665000	0.90641	0.650000	0.86243	CAG		PASS	0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			41	85	41	85	---	---	---	---
GJA10	84694	broad.mit.edu	37	6	90605460	90605460	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:90605460C>T	ENST00000369352.1	+	1	1273	c.1273C>T	c.(1273-1275)Cca>Tca	p.P425S	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	59					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.P425S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CAGATCTCGCCCAGGCAGTCG	0.532																																						uc011eaa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1273-1275)CCA>TCA		gap junction protein, alpha 10							94.0	91.0	92.0					6																	90605460		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605460C>T	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1273C>T	6.37:g.90605460C>T	ENSP00000358358:p.Pro425Ser						p.P425S	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	1273	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	425			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.1273C>T	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.108989	0.20714	.	.	ENSG00000135355	ENST00000369352	D	0.97404	-4.37	5.39	-2.33	0.06724	.	0.951438	0.08726	N	0.902746	D	0.85004	0.5598	L	0.28115	0.83	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.76545	-0.2920	10	0.38643	T	0.18	.	4.5498	0.12107	0.2336:0.3477:0.0:0.4187	.	425	Q969M2	CXA10_HUMAN	S	425	ENSP00000358358:P425S	ENSP00000358358:P425S	P	+	1	0	GJA10	90662181	0.000000	0.05858	0.000000	0.03702	0.452000	0.32318	0.237000	0.17985	-0.584000	0.05913	-0.253000	0.11424	CCA		PASS	0.532	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		14	56	14	56	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	93964367	93964367	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:93964367C>G	ENST00000369303.4	-	14	2714	c.2530G>C	c.(2530-2532)Gat>Cat	p.D844H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	844	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.D844H(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACACCTACATCTTGATTTGAC	0.358																																						uc003poe.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2530-2532)GAT>CAT		ephrin receptor EphA7 precursor							125.0	112.0	116.0					6																	93964367		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93964367C>G	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2530G>C	6.37:g.93964367C>G	ENSP00000358309:p.Asp844His					EPHA7_uc003pof.2_Missense_Mutation_p.D839H|EPHA7_uc011eac.1_Missense_Mutation_p.D840H	p.D844H	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	14	2771	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	844			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2530G>C	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.709963	0.89018	.	.	ENSG00000135333	ENST00000369303	D	0.83250	-1.7	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	L	0.49256	1.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.989;1.0;1.0	D	0.88672	0.3196	10	0.87932	D	0	.	19.1108	0.93315	0.0:1.0:0.0:0.0	.	840;839;844	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	844	ENSP00000358309:D844H	ENSP00000358309:D844H	D	-	1	0	EPHA7	94021088	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.768000	0.85345	2.599000	0.87857	0.650000	0.86243	GAT		PASS	0.358	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			11	19	11	19	---	---	---	---
KLHL32	114792	broad.mit.edu	37	6	97489367	97489367	+	Splice_Site	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:97489367G>T	ENST00000369261.4	+	4	567		c.e4-1		KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000544166.1_Splice_Site|KLHL32_ENST00000536676.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32									p.?(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CCTCACCTCAGGCAATGTTCA	0.428																																						uc010kcm.1																			1	Unknown(1)		lung(1)	ovary(3)|skin(1)	4						c.e4-1		kelch-like 32							126.0	111.0	116.0					6																	97489367		2203	4300	6503	SO:0001630	splice_region_variant	114792							g.chr6:97489367G>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.205-1G>T	6.37:g.97489367G>T						KLHL32_uc003poy.2_Splice_Site_p.A69_splice|KLHL32_uc011ead.1_Intron|KLHL32_uc003poz.2_Splice_Site|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_Splice_Site	p.A69_splice	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	4	677	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)						B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Splice_Site	SNP	ENST00000369261.4	37	c.205_splice	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240813	0.79912	.	.	ENSG00000186231	ENST00000369261;ENST00000369254	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3848	0.87413	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL32	97596088	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.807000	0.91935	2.630000	0.89119	0.591000	0.81541	.		PASS	0.428	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	Intron	15	48	15	48	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100838631	100838631	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:100838631C>G	ENST00000369208.3	-	12	2689	c.1907G>C	c.(1906-1908)aGa>aCa	p.R636T	SIM1_ENST00000262901.4_Missense_Mutation_p.R636T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	636	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R636T(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTTTCCCTCTCTCTGCTGGAT	0.488																																						uc003pqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1906-1908)AGA>ACA		single-minded homolog 1							168.0	167.0	167.0					6																	100838631		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838631C>G	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1907G>C	6.37:g.100838631C>G	ENSP00000358210:p.Arg636Thr					SIM1_uc010kcu.2_Missense_Mutation_p.R636T	p.R636T	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2114	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	636			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1907G>C	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.498861	0.44455	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03553	3.89;3.89	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.313991	0.37857	N	0.001912	T	0.02047	0.0064	N	0.24115	0.695	0.48901	D	0.999723	P	0.35208	0.49	B	0.33521	0.165	T	0.59695	-0.7406	10	0.48119	T	0.1	.	20.1178	0.97943	0.0:1.0:0.0:0.0	.	636	P81133	SIM1_HUMAN	T	636	ENSP00000358210:R636T;ENSP00000262901:R636T	ENSP00000262901:R636T	R	-	2	0	SIM1	100945352	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.206000	0.58473	2.759000	0.94783	0.557000	0.71058	AGA		PASS	0.488	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		44	107	44	107	---	---	---	---
LIN28B	389421	broad.mit.edu	37	6	105526586	105526586	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:105526586C>A	ENST00000345080.4	+	4	884	c.681C>A	c.(679-681)tcC>tcA	p.S227S		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	227					miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S227S(1)		large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AAGCTTCCTCCACGAAGTCAT	0.483																																						uc003pqv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(679-681)TCC>TCA		lin-28 homolog B							78.0	75.0	76.0					6																	105526586		2203	4300	6503	SO:0001819	synonymous_variant	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105526586C>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.681C>A	6.37:g.105526586C>A						LIN28B_uc010kda.1_3'UTR	p.S227S	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN			4	884	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	227					A1L165|B2RPN6|Q5TCM4	Silent	SNP	ENST00000345080.4	37	c.681C>A	CCDS34504.1																																																																																				PASS	0.483	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		10	48	10	48	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112451158	112451158	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:112451158C>G	ENST00000230538.7	-	30	4450	c.4053G>C	c.(4051-4053)aaG>aaC	p.K1351N	LAMA4_ENST00000522006.1_Missense_Mutation_p.K1344N|LAMA4_ENST00000389463.4_Missense_Mutation_p.K1344N|LAMA4_ENST00000424408.2_Missense_Mutation_p.K1344N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1351	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.K1344N(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGTAAAACTTCTTTTCACTTG	0.358																																						uc003pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4051-4053)AAG>AAC		laminin, alpha 4 isoform 1 precursor							226.0	195.0	205.0					6																	112451158		2202	4299	6501	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112451158C>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4053G>C	6.37:g.112451158C>G	ENSP00000230538:p.Lys1351Asn					LAMA4_uc003pvv.2_Missense_Mutation_p.K1344N|LAMA4_uc003pvt.2_Missense_Mutation_p.K1344N	p.K1351N	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	30	4362	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1351			Laminin G-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4053G>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303782	0.60305	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.81	4.93	0.64822	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.222714	0.53938	D	0.000051	T	0.71367	0.3331	L	0.56769	1.78	0.80722	D	1	D;D	0.54601	0.967;0.959	P;B	0.48368	0.575;0.439	T	0.73767	-0.3879	10	0.48119	T	0.1	.	12.1375	0.53979	0.0:0.7719:0.1536:0.0745	.	1351;1344	Q16363;Q16363-2	LAMA4_HUMAN;.	N	1351;1344;1344;1344	ENSP00000230538:K1351N;ENSP00000429488:K1344N;ENSP00000374114:K1344N;ENSP00000416470:K1344N	ENSP00000230538:K1351N	K	-	3	2	LAMA4	112557851	0.983000	0.35010	1.000000	0.80357	0.750000	0.42670	0.222000	0.17699	2.752000	0.94435	0.557000	0.71058	AAG		PASS	0.358	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		4	21	4	21	---	---	---	---
RSPH4A	345895	broad.mit.edu	37	6	116948888	116948888	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:116948888G>A	ENST00000229554.5	+	3	1155	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T	RSPH4A_ENST00000368581.4_Missense_Mutation_p.A340T|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	340					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.A340T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CATATTTCTTGCCCTCAAGCA	0.438									Kartagener syndrome																													uc003pxe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)GCC>ACC		radial spoke head 4 homolog A isoform 1							117.0	118.0	118.0					6																	116948888		2203	4300	6503	SO:0001583	missense	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116948888G>A		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1018G>A	6.37:g.116948888G>A	ENSP00000229554:p.Ala340Thr					RSPH4A_uc010kee.2_Missense_Mutation_p.A340T	p.A340T	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			3	1163	+			340					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.1018G>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050570	0.93740	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.27256	1.68;1.68	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.51733	-0.8668	10	0.72032	D	0.01	-10.3765	16.8276	0.85935	0.0:0.0:1.0:0.0	.	340;340	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	T	340;340;135	ENSP00000357570:A340T;ENSP00000229554:A340T	ENSP00000229554:A340T	A	+	1	0	RSPH4A	117055581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.468000	0.97676	2.542000	0.85734	0.591000	0.81541	GCC		PASS	0.438	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		30	67	30	67	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123892185	123892185	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:123892185C>A	ENST00000398178.3	-	2	136	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	TRDN_ENST00000542443.1_Missense_Mutation_p.D39Y|TRDN_ENST00000546248.1_Missense_Mutation_p.D39Y|TRDN_ENST00000334268.4_Missense_Mutation_p.D39Y	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	39					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.D39Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTCACTATGTCTTCTGTGACT	0.473																																						uc003pzj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)GAC>TAC		triadin							107.0	111.0	110.0					6																	123892185		2031	4188	6219	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123892185C>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.115G>T	6.37:g.123892185C>A	ENSP00000381240:p.Asp39Tyr					TRDN_uc003pzk.1_Missense_Mutation_p.D39Y|TRDN_uc003pzl.1_Missense_Mutation_p.D39Y|TRDN_uc010ken.2_Missense_Mutation_p.D39Y|TRDN_uc010keo.1_Missense_Mutation_p.D39Y	p.D39Y	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	2	137	-			39			Cytoplasmic.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.115G>T	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892557	0.72524	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.74737	1.12;1.11;5.43;-0.87	5.82	5.82	0.92795	.	0.048178	0.85682	D	0.000000	D	0.83635	0.5297	M	0.63843	1.955	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.998;0.998	D	0.84122	0.0407	10	0.87932	D	0	-17.7646	20.0966	0.97849	0.0:1.0:0.0:0.0	.	39;39;39;39;39	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	Y	39	ENSP00000381240:D39Y;ENSP00000333984:D39Y;ENSP00000439281:D39Y;ENSP00000437684:D39Y	ENSP00000333984:D39Y	D	-	1	0	TRDN	123933884	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.692000	0.68256	2.753000	0.94483	0.557000	0.71058	GAC		PASS	0.473	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				20	45	20	45	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129674308	129674308	+	Splice_Site	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:129674308G>T	ENST00000421865.2	+	32	4572		c.e32-1			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.?(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTCAATTCAGGTGTGCCCCT	0.483																																						uc003qbn.2																			1	Unknown(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.e32-1		laminin alpha 2 subunit isoform a precursor							51.0	46.0	48.0					6																	129674308		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129674308G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4524-1G>T	6.37:g.129674308G>T						LAMA2_uc003qbo.2_Splice_Site_p.R1508_splice	p.R1508_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	32	4629	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37	c.4524_splice	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342108	0.81911	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6602	0.95864	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129716001	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	6.683000	0.74533	2.729000	0.93468	0.460000	0.39030	.		PASS	0.483	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Intron	5	18	5	18	---	---	---	---
SLC2A12	154091	broad.mit.edu	37	6	134350675	134350675	+	Silent	SNP	G	G	T	rs200317270	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:134350675G>T	ENST00000275230.5	-	2	443	c.288C>A	c.(286-288)acC>acA	p.T96T		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	96					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.T96T(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GGACCCCTCCGGTGAGTGAGG	0.507																																					Melanoma(122;1663 1672 14489 35294 41228)	uc003qem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(286-288)ACC>ACA		solute carrier family 2 (facilitated glucose							97.0	95.0	96.0					6																	134350675		2203	4300	6503	SO:0001819	synonymous_variant	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350675G>T	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.288C>A	6.37:g.134350675G>T							p.T96T	NM_145176	NP_660159	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	459	-	Breast(56;0.214)|Colorectal(23;0.221)		96			Helical; (Potential).		B3KV17|Q7Z6U3|Q96MR8	Silent	SNP	ENST00000275230.5	37	c.288C>A	CCDS5169.1																																																																																				PASS	0.507	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			34	46	34	46	---	---	---	---
MAP3K5	4217	broad.mit.edu	37	6	136888770	136888770	+	Splice_Site	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:136888770T>A	ENST00000359015.4	-	26	4120	c.3760A>T	c.(3760-3762)Aga>Tga	p.R1254*	MAP3K5_ENST00000355845.4_Splice_Site_p.R501*	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1254					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.R1254*(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGGACTTACCTATTGGTTTCT	0.423																																						uc003qhc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(3760-3762)AGA>TGA		mitogen-activated protein kinase kinase kinase							80.0	72.0	75.0					6																	136888770		2203	4300	6503	SO:0001630	splice_region_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136888770T>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3761+1A>T	6.37:g.136888770T>A						MAP3K5_uc011edj.1_Nonsense_Mutation_p.R501*|MAP3K5_uc011edk.1_Nonsense_Mutation_p.R1100*	p.R1254*	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	26	4121	-	Colorectal(23;0.24)		1254					A6NIA0|B4DGB2|Q5THN3|Q99461	Nonsense_Mutation	SNP	ENST00000359015.4	37	c.3760A>T	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	T	43	10.254617	0.99369	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	.	.	.	5.59	5.59	0.84812	.	0.044753	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7605	0.78076	0.0:0.0:0.0:1.0	.	.	.	.	X	1254;501	.	ENSP00000348104:R501X	R	-	1	2	MAP3K5	136930463	1.000000	0.71417	0.933000	0.37362	0.663000	0.39108	5.676000	0.68131	2.116000	0.64780	0.454000	0.30748	AGA		PASS	0.423	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		Nonsense_Mutation	16	26	16	26	---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138198379	138198379	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:138198379C>T	ENST00000237289.4	+	6	1038	c.972C>T	c.(970-972)ctC>ctT	p.L324L	TNFAIP3_ENST00000485192.1_3'UTR	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	324	2 X approximate repeats.				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.L324fs*7(4)|p.L324L(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)		CAACTCATCTCATCAATGCCG	0.463			"""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		30	Whole gene deletion(25)|Deletion - Frameshift(4)|Substitution - coding silent(1)	p.0?(22)|p.L324fs*7(1)	haematopoietic_and_lymphoid_tissue(29)|lung(1)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(970-972)CTC>CTT		tumor necrosis factor, alpha-induced protein 3							96.0	98.0	97.0					6																	138198379		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:138198379C>T	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.972C>T	6.37:g.138198379C>T						TNFAIP3_uc003qhs.2_Silent_p.L324L	p.L324L	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	6	1038	+	Breast(32;0.135)|Colorectal(23;0.24)		324			2 X approximate repeats.|2.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.972C>T	CCDS5187.1																																																																																				PASS	0.463	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			20	42	20	42	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144820427	144820427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:144820427C>A	ENST00000367545.3	+	33	4628	c.4628C>A	c.(4627-4629)tCa>tAa	p.S1543*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1543	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.S1543*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAGAGCATCACAGTTGGCC	0.463																																						uc003qkt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(4627-4629)TCA>TAA		utrophin							97.0	84.0	88.0					6																	144820427		2203	4300	6503	SO:0001587	stop_gained	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144820427C>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4628C>A	6.37:g.144820427C>A	ENSP00000356515:p.Ser1543*						p.S1543*	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	33	4720	+		Ovarian(120;0.218)	1543			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.4628C>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	44	11.214349	0.99531	.	.	ENSG00000152818	ENST00000367545	.	.	.	5.79	5.79	0.91817	.	0.148840	0.31301	N	0.007883	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	10.4264	0.44380	0.0:0.8561:0.0:0.1439	.	.	.	.	X	1543	.	ENSP00000356515:S1543X	S	+	2	0	UTRN	144862120	0.022000	0.18835	0.510000	0.27712	0.989000	0.77384	2.295000	0.43576	2.734000	0.93682	0.655000	0.94253	TCA		PASS	0.463	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			14	46	14	46	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146720825	146720825	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:146720825G>C	ENST00000282753.1	+	7	2885	c.2650G>C	c.(2650-2652)Ggg>Cgg	p.G884R	GRM1_ENST00000361719.2_Missense_Mutation_p.G884R|GRM1_ENST00000392299.2_Missense_Mutation_p.G884R|GRM1_ENST00000355289.4_Missense_Mutation_p.G884R|GRM1_ENST00000492807.2_Missense_Mutation_p.G884R|GRM1_ENST00000507907.1_Missense_Mutation_p.G884R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	884			G -> E (in dbSNP:rs362936).		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.G884R(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCAGGGGCAGGGAATGCCAA	0.498																																						uc010khw.1																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2650-2652)GGG>CGG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						26.0	23.0	24.0					6																	146720825		2199	4284	6483	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720825G>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2650G>C	6.37:g.146720825G>C	ENSP00000282753:p.Gly884Arg					GRM1_uc010khv.1_Missense_Mutation_p.G884R|GRM1_uc003qll.2_Missense_Mutation_p.G884R|GRM1_uc011edz.1_Missense_Mutation_p.G884R|GRM1_uc011eea.1_Missense_Mutation_p.G884R	p.G884R	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3120	+		Ovarian(120;0.0387)	884			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2650G>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754212	0.49362	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	T;D;D;T;D;D	0.87966	1.57;-2.29;-2.29;1.57;-2.32;-2.29	5.68	5.68	0.88126	.	0.046592	0.85682	D	0.000000	D	0.90229	0.6945	M	0.67953	2.075	0.80722	D	1	P;D;D	0.63880	0.839;0.993;0.979	P;P;P	0.60949	0.667;0.881;0.666	D	0.87010	0.2122	10	0.27082	T	0.32	.	19.7753	0.96389	0.0:0.0:1.0:0.0	.	884;884;884	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	R	884	ENSP00000354896:G884R;ENSP00000376119:G884R;ENSP00000424095:G884R;ENSP00000282753:G884R;ENSP00000347437:G884R;ENSP00000425599:G884R	ENSP00000282753:G884R	G	+	1	0	GRM1	146762518	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	9.476000	0.97823	2.686000	0.91538	0.585000	0.79938	GGG		PASS	0.498	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	26	5	26	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151107545	151107545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:151107545G>T	ENST00000358517.2	+	4	743	c.532G>T	c.(532-534)Gaa>Taa	p.E178*	PLEKHG1_ENST00000367328.1_Nonsense_Mutation_p.E178*			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	178	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E178*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAAGATTTGGAAAACTGTGA	0.378																																						uc003qny.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(532-534)GAA>TAA		pleckstrin homology domain containing, family G							101.0	102.0	101.0					6																	151107545		2203	4300	6503	SO:0001587	stop_gained	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151107545G>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.532G>T	6.37:g.151107545G>T	ENSP00000351318:p.Glu178*					PLEKHG1_uc011eel.1_Nonsense_Mutation_p.E218*|PLEKHG1_uc011eem.1_Nonsense_Mutation_p.E237*|PLEKHG1_uc003qnz.2_Nonsense_Mutation_p.E178*	p.E178*	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	5	844	+			178			DH.		Q5T1F2	Nonsense_Mutation	SNP	ENST00000358517.2	37	c.532G>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	41	8.774190	0.98948	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	.	.	.	5.9	5.03	0.67393	.	0.042338	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9333	0.70933	0.0685:0.0:0.9315:0.0	.	.	.	.	X	178	.	ENSP00000351318:E178X	E	+	1	0	PLEKHG1	151149238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.175000	0.65021	1.502000	0.48669	0.650000	0.86243	GAA		PASS	0.378	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			19	31	19	31	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152782735	152782735	+	Silent	SNP	G	G	T	rs201500601		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:152782735G>T	ENST00000367255.5	-	21	2992	c.2391C>A	c.(2389-2391)acC>acA	p.T797T	SYNE1_ENST00000448038.1_Silent_p.T804T|SYNE1_ENST00000495090.2_Silent_p.T364T|SYNE1_ENST00000367253.4_Silent_p.T797T|SYNE1_ENST00000367248.3_Silent_p.T787T|SYNE1_ENST00000265368.4_Silent_p.T797T|SYNE1_ENST00000341594.5_Silent_p.T804T|SYNE1_ENST00000423061.1_Silent_p.T804T|SYNE1_ENST00000413186.2_Silent_p.T797T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	797					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.T797T(2)|p.T804T(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)		TTCGCACCTTGGTTAGCTGCT	0.433										HNSCC(10;0.0054)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		17217	0.0		0.0	False		,,,				2504	0.0					uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(2389-2391)ACC>ACA		spectrin repeat containing, nuclear envelope 1							231.0	163.0	186.0					6																	152782735		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152782735G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2391C>A	6.37:g.152782735G>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.T804T|SYNE1_uc003qou.3_Silent_p.T797T|SYNE1_uc010kjb.1_Silent_p.T780T|SYNE1_uc003qow.2_Silent_p.T92T|SYNE1_uc003qox.1_Silent_p.T313T|SYNE1_uc003qoz.2_Silent_p.T229T|SYNE1_uc003qoy.2_Silent_p.T364T	p.T797T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	21	2993	-		Ovarian(120;0.0955)	797			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.2391C>A	CCDS5236.2																																																																																				PASS	0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	69	4	69	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159687195	159687195	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:159687195G>T	ENST00000297267.9	+	21	5564	c.5364G>T	c.(5362-5364)aaG>aaT	p.K1788N	FNDC1_ENST00000340366.6_Missense_Mutation_p.K1725N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1788					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K1788N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AATATGTGAAGCGCACGTGGT	0.468																																						uc010kjv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(5362-5364)AAG>AAT		fibronectin type III domain containing 1							152.0	147.0	149.0					6																	159687195		1973	4163	6136	SO:0001583	missense	84624					extracellular region		g.chr6:159687195G>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5364G>T	6.37:g.159687195G>T	ENSP00000297267:p.Lys1788Asn						p.K1788N	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	21	5564	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1788					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5364G>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.70|19.70	3.877328|3.877328	0.72294|0.72294	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.73047	.|-0.71;-0.71	6.07|6.07	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72835|0.72835	0.3510|0.3510	M|M	0.64404|0.64404	1.975|1.975	0.52501|0.52501	D|D	0.999954|0.999954	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.75286|0.75286	-0.3371|-0.3371	5|9	.|.	.|.	.|.	-32.4384|-32.4384	8.3002|8.3002	0.32010|0.32010	0.3583:0.0:0.6417:0.0|0.3583:0.0:0.6417:0.0	.|.	.|1788	.|Q4ZHG4	.|FNDC1_HUMAN	S|N	1684|1788;1725	.|ENSP00000297267:K1788N;ENSP00000342460:K1725N	.|.	A|K	+|+	1|3	0|2	FNDC1|FNDC1	159607185|159607185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.122000|2.122000	0.41987|0.41987	1.220000|1.220000	0.43490|0.43490	0.655000|0.655000	0.94253|0.94253	GCG|AAG		PASS	0.468	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		34	92	34	92	---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161574454	161574454	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:161574454C>A	ENST00000320285.4	-	5	800	c.588G>T	c.(586-588)ggG>ggT	p.G196G	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	196					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.G196G(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GGCGAGGCAGCCCCTTGGCCC	0.587																																						uc003qtr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(586-588)GGG>GGT		1-acylglycerol-3-phosphate O-acyltransferase 4							98.0	70.0	79.0					6																	161574454		2203	4300	6503	SO:0001819	synonymous_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161574454C>A	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.588G>T	6.37:g.161574454C>A						AGPAT4_uc003qts.1_Silent_p.G56G|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_3'UTR|AGPAT4_uc011egd.1_3'UTR|AGPAT4_uc011ege.1_3'UTR	p.G196G	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	5	815	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	196					B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	c.588G>T	CCDS5280.1																																																																																				PASS	0.587	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		4	9	4	9	---	---	---	---
PACRG	135138	broad.mit.edu	37	6	163483209	163483209	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:163483209C>A	ENST00000337019.3	+	4	543	c.319C>A	c.(319-321)Cat>Aat	p.H107N	PACRG_ENST00000366888.2_Missense_Mutation_p.H107N|PACRG_ENST00000366889.2_Missense_Mutation_p.H107N	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	107					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.H107N(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GGATTACCATCATTATCTGCC	0.453																																						uc003qua.2																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)CAT>AAT		parkin co-regulated gene protein isoform 1							106.0	108.0	107.0					6																	163483209		2203	4300	6503	SO:0001583	missense	135138							g.chr6:163483209C>A	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.319C>A	6.37:g.163483209C>A	ENSP00000337946:p.His107Asn					PACRG_uc003qub.2_Missense_Mutation_p.H107N|PACRG_uc003quc.2_Missense_Mutation_p.H107N	p.H107N	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	4	543	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	107					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	ENST00000337019.3	37	c.319C>A	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.946945|3.946945	0.73672|0.73672	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000534958	T|.	0.65364|.	-0.15|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.048760|.	0.85682|.	D|.	0.000000|.	T|.	0.74222|.	0.3688|.	M|M	0.88979|0.88979	2.995|2.995	0.48185|0.48185	D|D	0.999601|0.999601	P;D|.	0.69078|.	0.846;0.997|.	B;D|.	0.70227|.	0.358;0.968|.	T|.	0.78763|.	-0.2077|.	10|.	0.42905|.	T|.	0.14|.	-18.3034|-18.3034	12.2978|12.2978	0.54859|0.54859	0.0:0.9106:0.0:0.0894|0.0:0.9106:0.0:0.0894	.|.	107;107|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	N|X	107|22	ENSP00000337946:H107N|.	ENSP00000337946:H107N|.	H|S	+|+	1|2	0|0	PACRG|PACRG	163403199|163403199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.621000|4.621000	0.61233|0.61233	2.401000|2.401000	0.81631|0.81631	0.609000|0.609000	0.83330|0.83330	CAT|TCA		PASS	0.453	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		16	41	16	41	---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167753790	167753790	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:167753790A>G	ENST00000239587.5	+	3	490	c.402A>G	c.(400-402)gaA>gaG	p.E134E		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	134	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.E134E(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GAATGACCGAACACAACAGTG	0.527																																						uc003qvs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(400-402)GAA>GAG		tubulin tyrosine ligase-like family, member 2							160.0	140.0	147.0					6																	167753790		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753790A>G	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.402A>G	6.37:g.167753790A>G						TTLL2_uc011egr.1_RNA	p.E134E	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	490	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	134			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.402A>G	CCDS5301.1																																																																																				PASS	0.527	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		13	24	13	24	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169646362	169646362	+	Silent	SNP	G	G	A	rs187521022		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:169646362G>A	ENST00000366787.3	-	5	873	c.624C>T	c.(622-624)aaC>aaT	p.N208N		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	208	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.N208N(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTAGGTGGACGTTCTGAAGCA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		17677	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(622-624)AAC>AAT		thrombospondin 2 precursor							98.0	95.0	96.0					6																	169646362		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169646362G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.624C>T	6.37:g.169646362G>A							p.N208N	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	5	872	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	208			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.624C>T	CCDS34574.1																																																																																				PASS	0.388	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		10	53	10	53	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169649011	169649011	+	Missense_Mutation	SNP	C	C	T	rs150716666		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:169649011C>T	ENST00000366787.3	-	4	359	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	37	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R37H(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AATGGTCTTGCGGTTGATGTT	0.592																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(109-111)CGC>CAC		thrombospondin 2 precursor		C	HIS/ARG	0,4406		0,0,2203	104.0	76.0	85.0		110	4.2	1.0	6	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	THBS2	NM_003247.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	37/1173	169649011	1,13005	2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169649011C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.110G>A	6.37:g.169649011C>T	ENSP00000355751:p.Arg37His						p.R37H	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	358	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	37			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.110G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562257	0.86335	0.0	1.16E-4	ENSG00000186340	ENST00000366787;ENST00000435791	T;T	0.02158	4.42;4.42	4.22	4.22	0.49857	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.36815	U	0.002398	T	0.03871	0.0109	L	0.54323	1.7	0.37528	D	0.917829	D	0.89917	1.0	D	0.65874	0.939	T	0.47886	-0.9082	10	0.42905	T	0.14	-29.0225	10.6299	0.45530	0.0:0.9105:0.0:0.0895	.	37	P35442	TSP2_HUMAN	H	37	ENSP00000355751:R37H;ENSP00000398928:R37H	ENSP00000355751:R37H	R	-	2	0	THBS2	169390936	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	4.509000	0.60448	2.072000	0.62099	0.462000	0.41574	CGC		PASS	0.592	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		6	25	6	25	---	---	---	---
NUDT1	4521	broad.mit.edu	37	7	2284214	2284214	+	Missense_Mutation	SNP	G	G	C	rs144573336		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:2284214G>C	ENST00000397046.1	+	3	102	c.5G>C	c.(4-6)gGc>gCc	p.G2A	NUDT1_ENST00000397048.1_Missense_Mutation_p.G25A|FTSJ2_ENST00000486040.1_5'Flank|FTSJ2_ENST00000242257.8_5'Flank|NUDT1_ENST00000397049.1_Missense_Mutation_p.G25A|FTSJ2_ENST00000440306.2_5'Flank|NUDT1_ENST00000339737.2_Missense_Mutation_p.G2A|NUDT1_ENST00000343985.4_Missense_Mutation_p.G25A|NUDT1_ENST00000356714.1_Missense_Mutation_p.G2A	NM_198950.1	NP_945188.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	43					ATP catabolic process (GO:0006200)|dATP catabolic process (GO:0046061)|dGTP catabolic process (GO:0006203)|DNA protection (GO:0042262)|DNA repair (GO:0006281)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide catabolic process (GO:0006195)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|ATP diphosphatase activity (GO:0047693)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)	p.G25A(1)		large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GGGACCATGGGCGCCTCCAGG	0.632								Modulation of nucleotide pools																														uc003slp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)GGC>GCC	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	nudix-type motif 1 isoform p22							52.0	52.0	52.0					7																	2284214		2203	4300	6503	SO:0001583	missense	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2284214G>C	D16581	CCDS5329.1, CCDS5330.1	7p22	2008-07-18			ENSG00000106268	ENSG00000106268		"""Nudix motif containing"""	8048	protein-coding gene	gene with protein product	"""mutT human homolog 1"", ""nudix motif 1"", ""8-oxo-7,8-dihydrodeoxyguanosine triphosphatase"", ""8-oxo-dGTPase"", ""7,8-dihydro-8-oxoguanine triphosphatase"", ""8-oxo-7,8-dihydroguanosine triphosphatase"", ""nucleoside diphosphate-linked moiety X-type motif 1"""	600312		MTH1		7713494, 8226881	Standard	NM_002452		Approved		uc003slp.1	P36639	OTTHUMG00000023072	ENST00000397046.1:c.5G>C	7.37:g.2284214G>C	ENSP00000380239:p.Gly2Ala					FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_Missense_Mutation_p.G2A|NUDT1_uc003slr.1_Missense_Mutation_p.G2A|NUDT1_uc003sls.1_Missense_Mutation_p.G25A|NUDT1_uc003slt.1_Missense_Mutation_p.G2A|NUDT1_uc003slu.1_Missense_Mutation_p.G25A|NUDT1_uc003slv.1_Missense_Mutation_p.G2A	p.G25A	NM_198949	NP_945187	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	3	176	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	43					A4D205|Q6LES7|Q6P0Y6|Q7Z7N6|Q8IV95|Q9UBM0|Q9UBM9	Missense_Mutation	SNP	ENST00000397046.1	37	c.74G>C	CCDS5330.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.672386	0.00104	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000454650;ENST00000343985;ENST00000339737	T;T;T;T;T;T;T	0.39406	1.4;1.4;1.4;1.4;1.08;1.4;1.4	3.8	1.39	0.22231	NUDIX hydrolase domain-like (1);	0.978474	0.08385	N	0.953933	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27262	-1.0079	10	0.16896	T	0.51	5.0714	2.12	0.03724	0.1024:0.1982:0.2508:0.4486	.	43	P36639	8ODP_HUMAN	A	2;25;2;25;2;25;2	ENSP00000349148:G2A;ENSP00000380242:G25A;ENSP00000380239:G2A;ENSP00000380241:G25A;ENSP00000405334:G2A;ENSP00000339503:G25A;ENSP00000343439:G2A	ENSP00000343439:G2A	G	+	2	0	NUDT1	2250740	0.000000	0.05858	0.231000	0.23993	0.949000	0.60115	0.388000	0.20735	0.671000	0.31185	0.462000	0.41574	GGC		PASS	0.632	NUDT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206922.1	NM_002452		8	62	8	62	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	3991404	3991404	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:3991404G>T	ENST00000404826.2	+	7	1141	c.1002G>T	c.(1000-1002)gtG>gtT	p.V334V	SDK1_ENST00000389531.3_Silent_p.V334V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	334	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V334V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAATGGAGTGAGAATCACCA	0.607																																						uc003smx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(1000-1002)GTG>GTT		sidekick 1 precursor							86.0	72.0	77.0					7																	3991404		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:3991404G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1002G>T	7.37:g.3991404G>T							p.V334V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	7	1141	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	334			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.1002G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	7.624	0.677381	0.14841	.	.	ENSG00000146555	ENST00000426596	.	.	.	4.87	1.9	0.25705	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.5461	0.02565	0.2415:0.2161:0.4045:0.1379	.	.	.	.	L	53	.	.	X	+	2	2	SDK1	3957930	0.008000	0.16893	0.038000	0.18304	0.962000	0.63368	0.083000	0.14871	0.527000	0.28560	0.655000	0.94253	TGA		PASS	0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		11	53	11	53	---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6027050	6027050	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:6027050T>C	ENST00000265849.7	-	11	1451	c.1346A>G	c.(1345-1347)cAg>cGg	p.Q449R	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.Q449R|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.Q343R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	449					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.Q449R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACCCCTTTTCTGTCCTAGAGG	0.522			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(1345-1347)CAG>CGG	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							95.0	88.0	91.0					7																	6027050		2203	4300	6503	SO:0001583	missense	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6027050T>C		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1346A>G	7.37:g.6027050T>C	ENSP00000265849:p.Gln449Arg					PMS2_uc003spj.2_Missense_Mutation_p.Q343R|PMS2_uc003spk.2_Missense_Mutation_p.Q314R|PMS2_uc011jwl.1_Missense_Mutation_p.Q314R|PMS2_uc010ktg.2_Missense_Mutation_p.Q138R|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.Q449R	p.Q449R	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	1433	-		Ovarian(82;0.0694)	449					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1346A>G	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	11.54	1.670553	0.29693	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.86030	1.12;1.12;-2.06	5.84	3.51	0.40186	.	0.848714	0.10689	N	0.645491	T	0.79335	0.4428	L	0.50333	1.59	0.09310	N	1	B;B;B	0.18610	0.029;0.02;0.029	B;B;B	0.20955	0.014;0.015;0.032	T	0.61540	-0.7042	10	0.16896	T	0.51	-3.0107	7.5926	0.28029	0.0:0.079:0.1574:0.7636	.	449;449;343	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	R	449;402;343;449	ENSP00000265849:Q449R;ENSP00000392843:Q343R;ENSP00000384308:Q449R	ENSP00000265849:Q449R	Q	-	2	0	PMS2	5993576	0.307000	0.24500	0.004000	0.12327	0.013000	0.08279	1.058000	0.30504	0.490000	0.27771	0.529000	0.55759	CAG		PASS	0.522	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		25	63	25	63	---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6048643	6048643	+	Missense_Mutation	SNP	C	C	T	rs375507981		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:6048643C>T	ENST00000265849.7	-	1	113	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	PMS2_ENST00000382321.4_Missense_Mutation_p.R3Q|AIMP2_ENST00000395236.2_5'Flank|AIMP2_ENST00000400479.2_5'Flank|AIMP2_ENST00000223029.3_5'Flank|PMS2_ENST00000406569.3_Missense_Mutation_p.R3Q|PMS2_ENST00000469652.1_5'UTR	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	3					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.R3Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GCTCTCAGCTCGCTCCATGGA	0.647			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				c|||	1	0.000199681	0.0008	0.0	5008	,	,		14795	0.0		0.0	False		,,,				2504	0.0					uc003spl.2			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(7-9)CGA>CAA	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	43.0	49.0	47.0		8	-8.5	0.0	7		47	0,8600		0,0,4300	no	missense	PMS2	NM_000535.5	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	3/863	6048643	1,13005	2203	4300	6503	SO:0001583	missense	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6048643C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.8G>A	7.37:g.6048643C>T	ENSP00000265849:p.Arg3Gln					PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_5'UTR|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Missense_Mutation_p.R3Q|PMS2_uc010ktf.1_Missense_Mutation_p.R3Q|AIMP2_uc003spo.2_5'Flank	p.R3Q	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	1	95	-		Ovarian(82;0.0694)	3					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.8G>A	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	C	6.567	0.472920	0.12461	2.27E-4	0.0	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	D;D;D	0.86956	-1.87;-2.19;-2.07	4.27	-8.54	0.00912	.	2.991920	0.01361	N	0.012232	T	0.69142	0.3078	N	0.16478	0.41	0.23940	N	0.996404	B;B;B	0.24132	0.098;0.001;0.033	B;B;B	0.12837	0.008;0.003;0.002	T	0.64158	-0.6473	10	0.18710	T	0.47	.	0.5128	0.00598	0.3025:0.1333:0.2895:0.2747	.	3;3;3	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	Q	3	ENSP00000265849:R3Q;ENSP00000371758:R3Q;ENSP00000384308:R3Q	ENSP00000265849:R3Q	R	-	2	0	PMS2	6015169	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-3.252000	0.00539	-3.367000	0.00178	-0.142000	0.14014	CGA		PASS	0.647	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		17	44	17	44	---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8167699	8167699	+	Missense_Mutation	SNP	C	C	G	rs144420664		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:8167699C>G	ENST00000402384.3	-	13	1400	c.1134G>C	c.(1132-1134)gaG>gaC	p.E378D	ICA1_ENST00000265577.7_Missense_Mutation_p.E377D|ICA1_ENST00000406470.2_Missense_Mutation_p.E378D|ICA1_ENST00000422063.2_Missense_Mutation_p.E407D|ICA1_ENST00000396675.3_Missense_Mutation_p.E378D|ICA1_ENST00000401396.1_Missense_Mutation_p.E366D			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	378					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.E378D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CATTGAAGATCTCACTCAACA	0.552																																						uc003srm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1132-1134)GAG>GAC		islet cell autoantigen 1							146.0	140.0	142.0					7																	8167699		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8167699C>G		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1134G>C	7.37:g.8167699C>G	ENSP00000385570:p.Glu378Asp					ICA1_uc010ktr.2_Missense_Mutation_p.E407D|ICA1_uc003srl.2_Missense_Mutation_p.E366D|ICA1_uc003srn.3_Missense_Mutation_p.E304D|ICA1_uc003srp.3_Missense_Mutation_p.E377D|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.E378D|ICA1_uc003srr.2_Missense_Mutation_p.E377D|ICA1_uc003sro.3_Missense_Mutation_p.E378D	p.E378D	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	13	1201	-		Ovarian(82;0.0612)	378					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.1134G>C	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990972	0.18966	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.37	4.44	0.53790	Islet cell autoantigen Ica1, C-terminal (1);	0.236020	0.45126	D	0.000397	T	0.29524	0.0736	N	0.12182	0.205	0.45076	D	0.998094	B;B;B;B	0.22480	0.003;0.031;0.07;0.029	B;B;B;B	0.24974	0.015;0.046;0.057;0.026	T	0.07790	-1.0754	9	0.08381	T	0.77	-24.757	8.6052	0.33769	0.147:0.7716:0.0:0.0813	.	407;377;378;366	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	D	378;378;377;378;366;407	.	ENSP00000265577:E377D	E	-	3	2	ICA1	8134224	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	0.728000	0.26013	1.298000	0.44778	0.591000	0.81541	GAG		PASS	0.552	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		46	181	46	181	---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11022091	11022091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:11022091G>T	ENST00000403050.3	+	3	657	c.205G>T	c.(205-207)Gaa>Taa	p.E69*	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	69	Glu/Lys-rich.				lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E69*(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTTAGAAGAAGAACTGAATGA	0.318																																						uc003sry.1																			1	Substitution - Nonsense(1)		lung(1)	kidney(2)|skin(1)	3						c.(205-207)GAA>TAA		PHD finger protein 14 isoform 2							29.0	28.0	29.0					7																	11022091		1809	4061	5870	SO:0001587	stop_gained	9678						zinc ion binding	g.chr7:11022091G>T	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.205G>T	7.37:g.11022091G>T	ENSP00000385795:p.Glu69*					PHF14_uc011jxi.1_Intron|PHF14_uc003srz.2_Nonsense_Mutation_p.E69*|PHF14_uc011jxj.1_Intron	p.E69*	NM_014660	NP_055475	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	3	640	+			69			Glu/Lys-rich.		A7MCZ3|B4DI82	Nonsense_Mutation	SNP	ENST00000403050.3	37	c.205G>T	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	39	7.652534	0.98412	.	.	ENSG00000106443	ENST00000403050	.	.	.	5.11	5.11	0.69529	.	0.335125	0.25244	N	0.032061	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.0945	0.53747	0.0784:0.0:0.9216:0.0	.	.	.	.	X	69	.	ENSP00000385795:E69X	E	+	1	0	PHF14	10988616	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.307000	0.72815	2.641000	0.89580	0.585000	0.79938	GAA		PASS	0.318	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		23	24	23	24	---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11078410	11078410	+	Silent	SNP	A	A	G	rs371709359		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:11078410A>G	ENST00000403050.3	+	11	2456	c.2004A>G	c.(2002-2004)ctA>ctG	p.L668L	PHF14_ENST00000445996.2_Silent_p.L383L	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	668					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L668L(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAGAAGAACTACAAAACCTGA	0.343																																						uc003sry.1																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|skin(1)	3						c.(2002-2004)CTA>CTG		PHD finger protein 14 isoform 2							71.0	66.0	68.0					7																	11078410		1826	4074	5900	SO:0001819	synonymous_variant	9678						zinc ion binding	g.chr7:11078410A>G	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2004A>G	7.37:g.11078410A>G						PHF14_uc011jxi.1_Silent_p.L383L|PHF14_uc003srz.2_Silent_p.L668L|PHF14_uc011jxj.1_Silent_p.L383L	p.L668L	NM_014660	NP_055475	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	11	2439	+			668					A7MCZ3|B4DI82	Silent	SNP	ENST00000403050.3	37	c.2004A>G	CCDS47542.1																																																																																				PASS	0.343	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		9	30	9	30	---	---	---	---
SNX13	23161	broad.mit.edu	37	7	17930043	17930043	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:17930043G>C	ENST00000409389.1	-	5	555	c.383C>G	c.(382-384)tCt>tGt	p.S128C	SNX13_ENST00000409604.1_Missense_Mutation_p.S128C|SNX13_ENST00000428135.3_Missense_Mutation_p.S128C			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	128	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.S128C(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAGAAGAAAAGATTCATCATC	0.318																																						uc003stw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(382-384)TCT>TGT		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							91.0	88.0	89.0					7																	17930043		1832	4081	5913	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17930043G>C	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.383C>G	7.37:g.17930043G>C	ENSP00000386705:p.Ser128Cys					SNX13_uc003stv.2_Missense_Mutation_p.S128C|SNX13_uc010kuc.2_Translation_Start_Site|SNX13_uc003stx.1_Missense_Mutation_p.S48C|SNX13_uc003sty.2_Missense_Mutation_p.S128C	p.S128C			Q9Y5W8	SNX13_HUMAN			5	596	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		128			PXA.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.383C>G		.	.	.	.	.	.	.	.	.	.	G	32	5.143570	0.94603	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044;ENST00000409604	T;T	0.19250	2.16;2.42	5.81	5.81	0.92471	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.156108	0.64402	D	0.000014	T	0.41465	0.1160	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.69078	0.997;0.996;0.992;0.981	D;P;D;P	0.65323	0.934;0.905;0.926;0.698	T	0.06232	-1.0838	10	0.59425	D	0.04	-11.4185	20.0782	0.97758	0.0:0.0:1.0:0.0	.	128;128;128;128	Q9NSH0;Q9Y5W8;B8ZZT9;Q9Y5W8-2	.;SNX13_HUMAN;.;.	C	128;128;176;128	ENSP00000386705:S128C;ENSP00000398789:S128C	ENSP00000242044:S176C	S	-	2	0	SNX13	17896568	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.091000	0.94151	2.746000	0.94184	0.655000	0.94253	TCT		PASS	0.318	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		25	59	25	59	---	---	---	---
PRPS1L1	221823	broad.mit.edu	37	7	18066588	18066588	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:18066588T>A	ENST00000506618.2	-	1	898	c.818A>T	c.(817-819)aAt>aTt	p.N273I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	273					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.N273I(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGGTATGGTATTGGTGACTAC	0.438																																						uc003stz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(817-819)AAT>ATT		phosphoribosyl pyrophosphate synthetase 1-like							170.0	167.0	168.0					7																	18066588		2201	4300	6501	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066588T>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.818A>T	7.37:g.18066588T>A	ENSP00000424595:p.Asn273Ile						p.N273I	NM_175886	NP_787082	P21108	PRPS3_HUMAN			1	899	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		273					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.818A>T	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500298	0.64298	.	.	ENSG00000229937	ENST00000506618	T	0.78595	-1.19	4.44	3.29	0.37713	.	.	.	.	.	D	0.91068	0.7189	H	0.98027	4.13	.	.	.	D	0.89917	1.0	D	0.97110	1.0	D	0.92683	0.6160	8	0.87932	D	0	.	8.0911	0.30801	0.0:0.0976:0.0:0.9024	.	273	P21108	PRPS3_HUMAN	I	273	ENSP00000424595:N273I	ENSP00000424595:N273I	N	-	2	0	PRPS1L1	18033113	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.644000	0.67902	0.869000	0.35703	0.528000	0.53228	AAT		PASS	0.438	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		41	151	41	151	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18705919	18705919	+	Silent	SNP	G	G	C	rs370092099		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:18705919G>C	ENST00000432645.2	+	11	1542	c.1542G>C	c.(1540-1542)gcG>gcC	p.A514A	HDAC9_ENST00000405010.3_Silent_p.A514A|HDAC9_ENST00000417496.2_Silent_p.A512A|HDAC9_ENST00000401921.1_Silent_p.A473A|HDAC9_ENST00000441542.2_Silent_p.A517A|HDAC9_ENST00000428307.2_Silent_p.A470A|HDAC9_ENST00000456174.2_Silent_p.A486A|HDAC9_ENST00000406072.1_Silent_p.A501A|HDAC9_ENST00000406451.4_Silent_p.A514A|HDAC9_ENST00000524023.1_Silent_p.A437A	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	514					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A517A(6)|p.A512A(2)|p.A514A(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGGACCAGGCGATGCAGGAAG	0.532											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003suh.2																			10	Substitution - coding silent(10)		lung(8)|upper_aerodigestive_tract(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1540-1542)GCG>GCC		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						118.0	129.0	125.0					7																	18705919		2042	4185	6227	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18705919G>C	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1542G>C	7.37:g.18705919G>C			OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	727	HDAC9_uc003sue.2_Silent_p.A514A|HDAC9_uc011jyd.1_Silent_p.A514A|HDAC9_uc003sui.2_Silent_p.A517A|HDAC9_uc003suj.2_Silent_p.A473A|HDAC9_uc011jya.1_Silent_p.A511A|HDAC9_uc003sua.1_Silent_p.A492A|HDAC9_uc011jyb.1_Silent_p.A470A|HDAC9_uc003sud.1_Silent_p.A514A|HDAC9_uc011jyc.1_Silent_p.A473A|HDAC9_uc003suf.1_Silent_p.A545A|HDAC9_uc010kud.1_Silent_p.A517A|HDAC9_uc011jye.1_Silent_p.A486A|HDAC9_uc011jyf.1_Silent_p.A437A|HDAC9_uc010kue.1_Intron	p.A514A	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			11	1583	+	all_lung(11;0.187)		514					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1542G>C	CCDS47555.1																																																																																				PASS	0.532	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			31	102	31	102	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20691164	20691164	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:20691164G>T	ENST00000404938.2	+	13	2106	c.1454G>T	c.(1453-1455)gGa>gTa	p.G485V	ABCB5_ENST00000258738.6_Missense_Mutation_p.G40V|ABCB5_ENST00000443026.2_Missense_Mutation_p.G40V|ABCB5_ENST00000406935.1_Missense_Mutation_p.G40V|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	485	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.G40V(2)|p.G485V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATCAAGTATGGACGAGATGAT	0.433																																						uc003suw.3																			3	Substitution - Missense(3)		lung(3)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(118-120)GGA>GTA		ATP-binding cassette, sub-family B, member 5							271.0	234.0	247.0					7																	20691164		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20691164G>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1454G>T	7.37:g.20691164G>T	ENSP00000384881:p.Gly485Val					ABCB5_uc010kuh.2_Missense_Mutation_p.G485V|ABCB5_uc003suv.3_Missense_Mutation_p.G40V|ABCB5_uc011jyi.1_Missense_Mutation_p.G40V	p.G40V	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			4	665	+			40			ABC transporter 1.|Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.119G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622707	0.66787	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000019	D	0.96516	0.8863	M	0.88241	2.94	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;0.999	D	0.97018	0.9741	10	0.72032	D	0.01	.	16.7954	0.85600	0.0:0.0:1.0:0.0	.	40;485;40;40	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	V	485;40;40;40	ENSP00000384881:G485V;ENSP00000406730:G40V;ENSP00000383899:G40V;ENSP00000258738:G40V	ENSP00000258738:G40V	G	+	2	0	ABCB5	20657689	1.000000	0.71417	0.985000	0.45067	0.298000	0.27526	9.468000	0.97676	2.634000	0.89283	0.591000	0.81541	GGA		PASS	0.433	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		9	164	9	164	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20784959	20784959	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:20784959G>A	ENST00000404938.2	+	26	3979	c.3327G>A	c.(3325-3327)gaG>gaA	p.E1109E	ABCB5_ENST00000258738.6_Silent_p.E664E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1109	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.E664E(1)|p.E1109E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCATTGCTGAGAACATCGCCT	0.458																																						uc003suw.3																			2	Substitution - coding silent(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1990-1992)GAG>GAA		ATP-binding cassette, sub-family B, member 5							129.0	117.0	121.0					7																	20784959		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20784959G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3327G>A	7.37:g.20784959G>A						ABCB5_uc010kuh.2_Silent_p.E1109E	p.E664E	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			17	2538	+			664			Cytoplasmic (Potential).|ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.1992G>A	CCDS55090.1																																																																																				PASS	0.458	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		20	91	20	91	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21468913	21468913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:21468913C>T	ENST00000222584.3	+	3	348	c.130C>T	c.(130-132)Cag>Tag	p.Q44*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	44					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q44*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GTAGGACTCTCAGCCCTCTCC	0.483																																						uc003sva.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)	5						c.(130-132)CAG>TAG		Sp4 transcription factor							33.0	36.0	35.0					7																	21468913		2198	4300	6498	SO:0001587	stop_gained	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21468913C>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.130C>T	7.37:g.21468913C>T	ENSP00000222584:p.Gln44*					SP4_uc003svb.2_Intron	p.Q44*	NM_003112	NP_003103	Q02446	SP4_HUMAN			3	311	+			44					O60402|Q32M52	Nonsense_Mutation	SNP	ENST00000222584.3	37	c.130C>T	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359862	0.95854	.	.	ENSG00000105866	ENST00000222584;ENST00000446800	.	.	.	4.61	4.61	0.57282	.	0.057460	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6323	0.88112	0.0:1.0:0.0:0.0	.	.	.	.	X	44	.	ENSP00000222584:Q44X	Q	+	1	0	SP4	21435438	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.381000	0.81170	0.563000	0.77884	CAG		PASS	0.483	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		13	25	13	25	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21639594	21639594	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:21639594C>T	ENST00000409508.3	+	15	2888	c.2857C>T	c.(2857-2859)Cct>Tct	p.P953S	DNAH11_ENST00000328843.6_Missense_Mutation_p.P953S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	953	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P953S(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTGTTGCCTCCTGAGATTGT	0.398									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2857-2859)CCT>TCT		dynein, axonemal, heavy chain 11							81.0	77.0	78.0					7																	21639594		1848	4089	5937	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639594C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2857C>T	7.37:g.21639594C>T	ENSP00000475939:p.Pro953Ser						p.P953S	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2888	+			953			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2857C>T		.	.	.	.	.	.	.	.	.	.	C	13.43	2.235840	0.39498	.	.	ENSG00000105877	ENST00000328843	T	0.22336	1.96	5.72	4.84	0.62591	.	0.532224	0.19528	N	0.112118	T	0.14098	0.0341	.	.	.	0.09310	N	0.999999	B	0.15473	0.013	B	0.13407	0.009	T	0.14448	-1.0472	9	0.40728	T	0.16	.	5.5766	0.17227	0.2562:0.5939:0.0:0.1499	.	953	Q96DT5	DYH11_HUMAN	S	953	ENSP00000330671:P953S	ENSP00000330671:P953S	P	+	1	0	DNAH11	21606119	0.001000	0.12720	0.994000	0.49952	0.876000	0.50452	0.330000	0.19715	1.562000	0.49601	0.655000	0.94253	CCT		PASS	0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	78	10	78	---	---	---	---
TRA2A	29896	broad.mit.edu	37	7	23561452	23561452	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:23561452C>T	ENST00000297071.4	-	2	260	c.44G>A	c.(43-45)cGc>cAc	p.R15H	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	15					mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R15H(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGACTGAGAGCGAGACTCCTA	0.423																																					Pancreas(121;2137 2973 46590)	uc003swi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(43-45)CGC>CAC		transformer-2 alpha							76.0	70.0	72.0					7																	23561452		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23561452C>T	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.44G>A	7.37:g.23561452C>T	ENSP00000297071:p.Arg15His					TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA	p.R15H	NM_013293	NP_037425	Q13595	TRA2A_HUMAN			2	258	-			15					B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.44G>A	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889064	0.72524	.	.	ENSG00000164548	ENST00000297071	T	0.42900	0.96	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.55990	1.75	0.80722	D	1	B	0.22146	0.065	B	0.09377	0.004	T	0.33137	-0.9880	10	0.72032	D	0.01	-4.5753	19.9068	0.97010	0.0:1.0:0.0:0.0	.	15	Q13595	TRA2A_HUMAN	H	15	ENSP00000297071:R15H	ENSP00000297071:R15H	R	-	2	0	TRA2A	23527977	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.822000	0.69265	2.718000	0.92993	0.585000	0.79938	CGC		PASS	0.423	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		44	57	44	57	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27148264	27148264	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:27148264G>C	ENST00000396352.4	-	3	801	c.602C>G	c.(601-603)gCg>gGg	p.A201G	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Missense_Mutation_p.A201G	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	201					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A201G(1)|p.A201V(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CACCAGCTGCGCGCTCGTGTA	0.667																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	breast(2)	2						c.(601-603)GCG>GGG		homeobox A3 isoform a							56.0	57.0	57.0					7																	27148264		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148264G>C		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.602C>G	7.37:g.27148264G>C	ENSP00000379640:p.Ala201Gly					HOXA3_uc011jzk.1_Missense_Mutation_p.A43G|HOXA3_uc003syk.2_Missense_Mutation_p.A201G	p.A201G	NM_030661	NP_109377	O43365	HXA3_HUMAN			3	802	-			201			Homeobox.		A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.602C>G	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709945	0.68730	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.96265	-3.96;-3.96	5.03	5.03	0.67393	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.099134	0.64402	D	0.000001	D	0.96577	0.8883	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97404	0.9998	10	0.62326	D	0.03	.	18.5723	0.91140	0.0:0.0:1.0:0.0	.	201	O43365	HXA3_HUMAN	G	201;201;43	ENSP00000379640:A201G;ENSP00000324884:A201G	ENSP00000324884:A201G	A	-	2	0	HOXA3	27114789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.320000	0.72876	2.620000	0.88729	0.655000	0.94253	GCG		PASS	0.667	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			10	53	10	53	---	---	---	---
HOXA10	3206	broad.mit.edu	37	7	27209158	27209158	+	IGR	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:27209158G>A	ENST00000283921.4	-	0	2541				RP1-170O19.20_ENST00000470747.4_Intron|HOXA-AS4_ENST00000519935.1_RNA|HOXA-AS4_ENST00000523790.1_RNA|HOXA9_ENST00000497089.1_5'Flank|HOXA10_ENST00000521421.1_5'Flank|RP1-170O19.20_ENST00000465941.1_Intron|MIR196B_ENST00000384852.1_RNA|HOXA-AS4_ENST00000519694.1_RNA	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10						anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CCAACAACAGGAAACTACCTA	0.652											OREG0003744	type=REGULATORY REGION|Gene=HOXA9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										hsa-mir-196b|MI0001150																			0					0															62.0	66.0	65.0					7																	27209158		1568	3582	5150	SO:0001628	intergenic_variant	442920							g.chr7:27209158G>A		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436		7.37:g.27209158G>A			OREG0003744	type=REGULATORY REGION|Gene=HOXA9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792											-								O43370|O43605|Q15949|Q504T1	RNA	SNP	ENST00000283921.4	37	c.25G>A	CCDS5410.2																																																																																				PASS	0.652	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			9	23	9	23	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31864492	31864492	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:31864492C>A	ENST00000396191.1	-	13	1850	c.1395G>T	c.(1393-1395)caG>caT	p.Q465H	PDE1C_ENST00000321453.7_Missense_Mutation_p.Q465H|PDE1C_ENST00000396193.1_Missense_Mutation_p.Q525H|PDE1C_ENST00000396184.3_Missense_Mutation_p.Q465H|PDE1C_ENST00000396182.2_Missense_Mutation_p.Q465H	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	465	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.Q465H(2)|p.Q525H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TCGAACGCCTCTGTCCTGTCC	0.507																																						uc003tcm.1																			3	Substitution - Missense(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.(1393-1395)CAG>CAT		phosphodiesterase 1C							170.0	143.0	152.0					7																	31864492		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31864492C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1395G>T	7.37:g.31864492C>A	ENSP00000379494:p.Gln465His					PDE1C_uc003tcn.1_Missense_Mutation_p.Q465H|PDE1C_uc003tco.1_Missense_Mutation_p.Q525H|PDE1C_uc003tcr.2_Missense_Mutation_p.Q465H|PDE1C_uc003tcs.2_Missense_Mutation_p.Q465H	p.Q465H	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		13	1864	-			465			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1395G>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	6.710	0.499638	0.12762	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.65;-0.65	5.82	4.92	0.64577	.	0.466719	0.21522	N	0.073200	T	0.43478	0.1249	N	0.03608	-0.345	0.34050	D	0.656053	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.50048	-0.8873	10	0.25751	T	0.34	.	7.6471	0.28327	0.2476:0.5134:0.2389:0.0	.	465;525;465	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	H	525;465;465;465;465	ENSP00000379496:Q525H;ENSP00000379494:Q465H;ENSP00000318105:Q465H;ENSP00000379487:Q465H;ENSP00000379485:Q465H	ENSP00000318105:Q465H	Q	-	3	2	PDE1C	31831017	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	1.725000	0.38074	2.761000	0.94854	0.655000	0.94253	CAG		PASS	0.507	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			31	102	31	102	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34097706	34097706	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:34097706C>A	ENST00000297161.2	+	11	1337	c.963C>A	c.(961-963)atC>atA	p.I321I	BMPER_ENST00000426693.1_Silent_p.I321I	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	321	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.I321I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTGTACCATCTGTGCTTGTG	0.502																																						uc011kap.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(961-963)ATC>ATA		BMP-binding endothelial regulator precursor							289.0	215.0	240.0					7																	34097706		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34097706C>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.963C>A	7.37:g.34097706C>A							p.I321I	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			10	1077	+			321			VWFC 5.		A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.963C>A	CCDS5442.1																																																																																				PASS	0.502	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		13	39	13	39	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34182965	34182965	+	Silent	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:34182965T>C	ENST00000297161.2	+	15	2243	c.1869T>C	c.(1867-1869)aaT>aaC	p.N623N	BMPER_ENST00000426693.1_Silent_p.N623N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	623					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.N623N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCAGCAGAATTGTGCAGGTA	0.488																																						uc011kap.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1867-1869)AAT>AAC		BMP-binding endothelial regulator precursor							80.0	80.0	80.0					7																	34182965		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34182965T>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1869T>C	7.37:g.34182965T>C							p.N623N	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			14	1983	+			623					A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.1869T>C	CCDS5442.1																																																																																				PASS	0.488	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		11	42	11	42	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38516551	38516551	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:38516551T>A	ENST00000356264.2	-	6	630	c.415A>T	c.(415-417)Agc>Tgc	p.S139C	AMPH_ENST00000428293.2_Missense_Mutation_p.S139C|AMPH_ENST00000325590.5_Missense_Mutation_p.S139C	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	139	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.S139C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGCTTCCTGCTGCGCTTGGCG	0.502																																						uc003tgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(415-417)AGC>TGC		amphiphysin isoform 1							119.0	103.0	108.0					7																	38516551		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38516551T>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.415A>T	7.37:g.38516551T>A	ENSP00000348602:p.Ser139Cys					AMPH_uc003tgv.2_Missense_Mutation_p.S139C	p.S139C	NM_001635	NP_001626	P49418	AMPH_HUMAN			6	484	-			139			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.415A>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465618	0.84425	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.60040	0.22;0.22;0.22	5.52	5.52	0.82312	BAR (3);	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.977;0.991	T	0.75863	-0.3167	10	0.72032	D	0.01	-16.5274	14.9109	0.70755	0.0:0.0:0.0:1.0	.	139;139	P49418-2;P49418	.;AMPH_HUMAN	C	139	ENSP00000317441:S139C;ENSP00000348602:S139C;ENSP00000390734:S139C	ENSP00000317441:S139C	S	-	1	0	AMPH	38483076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.555000	0.45854	2.225000	0.72522	0.477000	0.44152	AGC		PASS	0.502	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		15	45	15	45	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39243867	39243867	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:39243867G>T	ENST00000403058.1	+	4	378	c.224G>T	c.(223-225)gGc>gTc	p.G75V	POU6F2_ENST00000518318.2_Missense_Mutation_p.G75V|POU6F2_ENST00000559001.1_Missense_Mutation_p.G67V|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	75					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G75D(1)|p.G75V(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TCAGACCCAGGCACTCCTGAC	0.493																																						uc003thb.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	central_nervous_system(1)	1						c.(223-225)GGC>GTC		POU class 6 homeobox 2 isoform 1							102.0	90.0	94.0					7																	39243867		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39243867G>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.224G>T	7.37:g.39243867G>T	ENSP00000384004:p.Gly75Val					POU6F2_uc010kxo.2_Missense_Mutation_p.G67V	p.G75V	NM_007252	NP_009183	P78424	PO6F2_HUMAN			3	266	+			75					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.224G>T	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436600	0.83885	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.85955	-2.01;-2.05	5.84	5.84	0.93424	.	29.494500	0.00166	N	0.000014	D	0.85991	0.5826	N	0.08118	0	0.58432	D	0.999997	D;B	0.59357	0.985;0.449	P;B	0.53760	0.734;0.17	T	0.75363	-0.3344	10	0.72032	D	0.01	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	75;75	P78424-2;P78424	.;PO6F2_HUMAN	V	75;75;76	ENSP00000384004:G75V;ENSP00000430514:G75V	ENSP00000384004:G75V	G	+	2	0	POU6F2	39210392	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.403000	0.73264	2.765000	0.95021	0.655000	0.94253	GGC		PASS	0.493	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		15	34	15	34	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42004165	42004165	+	Silent	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:42004165T>A	ENST00000395925.3	-	15	4590	c.4506A>T	c.(4504-4506)gtA>gtT	p.V1502V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1502	Asp/Glu-rich (acidic).				anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V1502V(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGTCAATCTGTACCCCTTCCA	0.542									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - coding silent(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(4504-4506)GTA>GTT		GLI-Kruppel family member GLI3							126.0	106.0	113.0					7																	42004165		2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004165T>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4506A>T	7.37:g.42004165T>A						GLI3_uc011kbg.1_Silent_p.V1443V	p.V1502V	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	4597	-			1502			Asp/Glu-rich (acidic).		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.4506A>T	CCDS5465.1																																																																																				PASS	0.542	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		9	33	9	33	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42063099	42063099	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:42063099T>A	ENST00000395925.3	-	10	1549	c.1465A>T	c.(1465-1467)Agg>Tgg	p.R489W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	489					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R489W(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCGAACTCCCTCGCGCAGCCT	0.527									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(1465-1467)AGG>TGG		GLI-Kruppel family member GLI3							153.0	117.0	129.0					7																	42063099		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42063099T>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1465A>T	7.37:g.42063099T>A	ENSP00000379258:p.Arg489Trp					GLI3_uc011kbg.1_Missense_Mutation_p.R430W	p.R489W	NM_000168	NP_000159	P10071	GLI3_HUMAN			10	1556	-			489			C2H2-type 1.		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1465A>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.768949	0.69878	.	.	ENSG00000106571	ENST00000395925	T	0.41758	0.99	5.78	-1.38	0.09027	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	M	0.81112	2.525	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.73701	-0.3900	10	0.87932	D	0	.	18.1311	0.89602	0.0:0.0:0.608:0.392	.	489	P10071	GLI3_HUMAN	W	489	ENSP00000379258:R489W	ENSP00000379258:R489W	R	-	1	2	GLI3	42029624	0.908000	0.30866	0.093000	0.20910	0.990000	0.78478	1.169000	0.31871	-0.083000	0.12618	0.460000	0.39030	AGG		PASS	0.527	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		8	41	8	41	---	---	---	---
C7orf25	79020	broad.mit.edu	37	7	42950098	42950098	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:42950098C>A	ENST00000350427.4	-	2	677	c.402G>T	c.(400-402)agG>agT	p.R134S	C7orf25_ENST00000438029.1_Missense_Mutation_p.R134S|C7orf25_ENST00000431882.2_Missense_Mutation_p.R192S|C7orf25_ENST00000447342.1_Missense_Mutation_p.R134S|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	134								p.R134S(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CATATTGGCCCCTGCCCAGCC	0.507																																						uc003thw.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(400-402)AGG>AGT		hypothetical protein LOC79020 b							104.0	99.0	101.0					7																	42950098		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42950098C>A	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.402G>T	7.37:g.42950098C>A	ENSP00000343364:p.Arg134Ser					C7orf25_uc010kxq.2_Missense_Mutation_p.R134S|C7orf25_uc003thx.3_Missense_Mutation_p.R192S|C7orf25_uc010kxr.2_Missense_Mutation_p.R192S	p.R134S	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN			2	866	-			134					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.402G>T	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957660	0.53400	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029;ENST00000425683	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.84	1.94	0.25998	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.58810	1.83	0.58432	D	0.999999	P;P;D	0.54601	0.845;0.906;0.967	P;P;P	0.51657	0.676;0.6;0.604	T	0.34304	-0.9834	10	0.13470	T	0.59	-14.6696	6.7028	0.23234	0.0:0.6189:0.1177:0.2633	.	134;192;134	C9K0L6;B4DQM3;Q9BPX7	.;.;CG025_HUMAN	S	134;134;192;134;134	ENSP00000343364:R134S;ENSP00000413029:R134S;ENSP00000416290:R192S;ENSP00000396597:R134S;ENSP00000413106:R134S	ENSP00000343364:R134S	R	-	3	2	C7orf25	42916623	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	0.418000	0.21230	0.402000	0.25451	0.561000	0.74099	AGG		PASS	0.507	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		23	51	23	51	---	---	---	---
MRPL32	64983	broad.mit.edu	37	7	42976962	42976962	+	Missense_Mutation	SNP	G	G	T	rs542517584		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:42976962G>T	ENST00000223324.2	+	3	541	c.354G>T	c.(352-354)caG>caT	p.Q118H	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	118					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q118H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						ACCTGAAACAGAAACATGTCC	0.403																																						uc003tia.2																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)CAG>CAT		mitochondrial ribosomal protein L32 precursor							139.0	128.0	132.0					7																	42976962		2203	4300	6503	SO:0001583	missense	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42976962G>T	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.354G>T	7.37:g.42976962G>T	ENSP00000223324:p.Gln118His					MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Missense_Mutation_p.Q65H	p.Q118H	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			3	401	+			118					Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	c.354G>T	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770361	0.49680	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.9	2.97	0.34412	.	0.483184	0.23577	N	0.046688	T	0.69682	0.3138	M	0.80746	2.51	0.41139	D	0.985946	D	0.67145	0.996	P	0.61003	0.882	T	0.71224	-0.4656	9	0.46703	T	0.11	-4.8051	8.6201	0.33855	0.1252:0.2417:0.633:0.0	.	118	Q9BYC8	RM32_HUMAN	H	118	.	ENSP00000223324:Q118H	Q	+	3	2	MRPL32	42943487	1.000000	0.71417	0.978000	0.43139	0.345000	0.29048	4.271000	0.58902	1.486000	0.48398	-0.172000	0.13284	CAG		PASS	0.403	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		17	73	17	73	---	---	---	---
GCK	2645	broad.mit.edu	37	7	44184789	44184789	+	Silent	SNP	G	G	T	rs193922274|rs570159732		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:44184789G>T	ENST00000403799.3	-	10	1813	c.1344C>A	c.(1342-1344)ggC>ggA	p.G448G	GCK_ENST00000437084.1_Silent_p.G431G|GCK_ENST00000345378.2_Silent_p.G449G|GCK_ENST00000395796.3_Silent_p.G447G	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	448	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.G449G(1)|p.G448G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCAGGGCCGCGCCCCGGCCAC	0.672																																						uc003tkl.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|lung(1)	4	GRCh37	CI073749	GCK	I		c.(1342-1344)GGC>GGA		glucokinase isoform 1							18.0	20.0	19.0					7																	44184789		2202	4298	6500	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44184789G>T	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1344C>A	7.37:g.44184789G>T						GCK_uc003tkh.1_Silent_p.G121G|GCK_uc003tki.1_Silent_p.G126G|GCK_uc003tkj.1_Silent_p.G447G|GCK_uc003tkk.1_Silent_p.G449G	p.G448G	NM_000162	NP_000153	P35557	HXK4_HUMAN			10	1814	-			448					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.1344C>A	CCDS5479.1																																																																																				PASS	0.672	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			4	10	4	10	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48314472	48314472	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:48314472A>G	ENST00000435803.1	+	17	5233	c.5209A>G	c.(5209-5211)Aaa>Gaa	p.K1737E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1737					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K1737E(1)|p.K1682E(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCTGTTTCCTAAAGATGTTGT	0.438																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(5209-5211)AAA>GAA		ATP binding cassette, sub-family A (ABC1),							77.0	77.0	77.0					7																	48314472		2009	4194	6203	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314472A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5209A>G	7.37:g.48314472A>G	ENSP00000411096:p.Lys1737Glu					ABCA13_uc010kyr.2_Missense_Mutation_p.K1240E	p.K1737E	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	5234	+			1737					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5209A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	8.277	0.814668	0.16607	.	.	ENSG00000179869	ENST00000435803	T	0.15718	2.4	5.92	0.38	0.16222	.	0.314276	0.23272	N	0.050001	T	0.13072	0.0317	L	0.55481	1.735	0.09310	N	1	B	0.24721	0.11	B	0.19148	0.024	T	0.20472	-1.0274	9	.	.	.	.	6.2768	0.20985	0.4442:0.3985:0.1572:0.0	.	1737	Q86UQ4	ABCAD_HUMAN	E	1737	ENSP00000411096:K1737E	.	K	+	1	0	ABCA13	48285018	0.000000	0.05858	0.006000	0.13384	0.234000	0.25298	0.121000	0.15667	0.111000	0.17947	0.455000	0.32223	AAA		PASS	0.438	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		19	55	19	55	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55233016	55233016	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:55233016C>T	ENST00000275493.2	+	15	1943	c.1766C>T	c.(1765-1767)cCc>cTc	p.P589L	EGFR_ENST00000454757.2_Missense_Mutation_p.P536L|EGFR_ENST00000455089.1_Missense_Mutation_p.P544L|EGFR_ENST00000342916.3_Missense_Mutation_p.P589L|EGFR_ENST00000442591.1_Missense_Mutation_p.P589L|EGFR_ENST00000344576.2_Missense_Mutation_p.P589L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	589					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P589L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATTGACGGCCCCCACTGCGTC	0.532		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1765-1767)CCC>CTC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						91.0	79.0	83.0					7																	55233016		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233016C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1766C>T	7.37:g.55233016C>T	ENSP00000275493:p.Pro589Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.P589L|EGFR_uc003tqj.2_Missense_Mutation_p.P589L|EGFR_uc010kzg.1_Missense_Mutation_p.P544L|EGFR_uc011kco.1_Missense_Mutation_p.P536L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	p.P589L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2012	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		589	DGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding.		Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1766C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576719	0.65878	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.87	5.87	0.94306	Growth factor, receptor (1);	0.049601	0.85682	D	0.000000	T	0.38401	0.1039	M	0.64170	1.965	0.80722	D	1	B;P;P;B	0.44776	0.322;0.843;0.726;0.066	B;B;B;B	0.42138	0.084;0.377;0.299;0.053	T	0.17228	-1.0376	10	0.51188	T	0.08	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	544;589;589;589	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	544;589;459;589;589;589;536;383	ENSP00000415559:P544L;ENSP00000342376:P589L;ENSP00000345973:P589L;ENSP00000275493:P589L;ENSP00000410031:P589L;ENSP00000395243:P536L	ENSP00000275493:P589L	P	+	2	0	EGFR	55200510	1.000000	0.71417	0.981000	0.43875	0.890000	0.51754	4.717000	0.61923	2.785000	0.95823	0.655000	0.94253	CCC		PASS	0.532	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		18	214	18	214	---	---	---	---
CHCHD2	51142	broad.mit.edu	37	7	56172045	56172045	+	Silent	SNP	C	C	T	rs367760925		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:56172045C>T	ENST00000395422.3	-	2	336	c.174G>A	c.(172-174)caG>caA	p.Q58Q		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	58						mitochondrion (GO:0005739)		p.Q58Q(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGTTGCCATCTGGGCCATCA	0.647																																						uc003tsa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(172-174)CAG>CAA		coiled-coil-helix-coiled-coil-helix domain							22.0	22.0	22.0					7																	56172045		2198	4290	6488	SO:0001819	synonymous_variant	51142					mitochondrion		g.chr7:56172045C>T	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.174G>A	7.37:g.56172045C>T						PSPH_uc003trj.2_Intron	p.Q58Q	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	255	-	Breast(14;0.214)		58					Q498C3|Q6NZ50	Silent	SNP	ENST00000395422.3	37	c.174G>A	CCDS5526.1																																																																																				PASS	0.647	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		24	53	24	53	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57188465	57188465	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:57188465G>T	ENST00000331162.4	-	5	927	c.657C>A	c.(655-657)ggC>ggA	p.G219G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	219					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.G219G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TAAAGGATTTGCCACATTCTT	0.363																																						uc010kzo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(655-657)GGC>GGA		zinc finger protein 479							14.0	14.0	14.0					7																	57188465		1831	4056	5887	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188465G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.657C>A	7.37:g.57188465G>T							p.G219G	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	928	-			219			C2H2-type 2.			Silent	SNP	ENST00000331162.4	37	c.657C>A	CCDS43590.1																																																																																				PASS	0.363	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		9	14	9	14	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70800691	70800691	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:70800691C>G	ENST00000333538.5	+	2	1028	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	132					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R132G(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTCACTGGACCGTTCCATTCC	0.488																																						uc003tvy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(394-396)CGT>GGT		UDP-GalNAc:polypeptide							54.0	57.0	56.0					7																	70800691		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70800691C>G	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.394C>G	7.37:g.70800691C>G	ENSP00000329654:p.Arg132Gly					WBSCR17_uc003tvz.2_5'UTR	p.R132G	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			2	394	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	132			Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.394C>G	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740555	0.69304	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.68624	-0.34;-0.34	4.89	4.89	0.63831	.	0.121224	0.53938	D	0.000049	T	0.82217	0.4989	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84720	0.0739	10	0.87932	D	0	.	12.3142	0.54946	0.169:0.8309:0.0:0.0	.	132	Q6IS24	GLTL3_HUMAN	G	132;110	ENSP00000329654:R132G;ENSP00000392019:R110G	ENSP00000329654:R132G	R	+	1	0	WBSCR17	70438627	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.293000	0.51779	2.530000	0.85305	0.491000	0.48974	CGT		PASS	0.488	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		19	23	19	23	---	---	---	---
GNAI1	2770	broad.mit.edu	37	7	79846649	79846649	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:79846649A>G	ENST00000351004.3	+	8	1278	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	GNAI1_ENST00000457358.2_Missense_Mutation_p.Y250C	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	302					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.Y302C(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						GCAGCTGCATATATTCAATGT	0.338																																						uc003uhb.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(904-906)TAT>TGT		guanine nucleotide binding protein (G protein),							91.0	84.0	86.0					7																	79846649		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.chr7:79846649A>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.905A>G	7.37:g.79846649A>G	ENSP00000343027:p.Tyr302Cys					GNAI1_uc011kgt.1_Missense_Mutation_p.Y250C	p.Y302C	NM_002069	NP_002060	P63096	GNAI1_HUMAN			8	1242	+			302					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.905A>G	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542112	0.65198	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.91894	-2.93;-2.93	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99433	1.0936	9	.	.	.	.	15.8505	0.78927	1.0:0.0:0.0:0.0	.	302	P63096	GNAI1_HUMAN	C	302;250	ENSP00000343027:Y302C;ENSP00000410572:Y250C	.	Y	+	2	0	GNAI1	79684585	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.287000	0.95975	2.137000	0.66172	0.460000	0.39030	TAT		PASS	0.338	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		5	50	5	50	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82784244	82784244	+	Silent	SNP	T	T	A	rs200887797		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:82784244T>A	ENST00000333891.9	-	2	2050	c.1713A>T	c.(1711-1713)acA>acT	p.T571T	PCLO_ENST00000423517.2_Silent_p.T571T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T571T(2)|p.T517T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGGAGACACTGTTGGTGGCT	0.498													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19123	0.0		0.0	False		,,,				2504	0.0					uc003uhx.2																			3	Substitution - coding silent(3)		lung(3)	ovary(7)	7						c.(1711-1713)ACA>ACT		piccolo isoform 1							359.0	361.0	360.0					7																	82784244		2020	4172	6192	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784244T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1713A>T	7.37:g.82784244T>A						PCLO_uc003uhv.2_Silent_p.T571T	p.T571T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	2002	-			517			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.1713A>T	CCDS47630.1																																																																																				PASS	0.498	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		176	133	176	133	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82784705	82784705	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:82784705G>A	ENST00000333891.9	-	2	1589	c.1252C>T	c.(1252-1254)Cca>Tca	p.P418S	PCLO_ENST00000423517.2_Missense_Mutation_p.P418S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P418S(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTTTGGTGTCCCCACC	0.587																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(1252-1254)CCA>TCA		piccolo isoform 1							124.0	126.0	125.0					7																	82784705		2030	4188	6218	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784705G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1252C>T	7.37:g.82784705G>A	ENSP00000334319:p.Pro418Ser					PCLO_uc003uhv.2_Missense_Mutation_p.P418S	p.P418S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1541	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000333891.9	37	c.1252C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791690	0.16258	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.14893	2.47;2.47	5.53	-4.24	0.03777	.	.	.	.	.	T	0.07999	0.0200	N	0.14661	0.345	0.09310	N	0.999994	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.36578	-0.9742	9	0.87932	D	0	.	4.4891	0.11805	0.1527:0.4893:0.1983:0.1598	.	418;418	Q9Y6V0-5;Q9Y6V0-6	.;.	S	418	ENSP00000334319:P418S;ENSP00000388393:P418S	ENSP00000334319:P418S	P	-	1	0	PCLO	82622641	0.994000	0.37717	0.017000	0.16124	0.273000	0.26683	-0.122000	0.10627	-0.400000	0.07656	0.655000	0.94253	CCA		PASS	0.587	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	124	12	124	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87104757	87104757	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:87104757C>G	ENST00000265723.4	-	2	136	c.25G>C	c.(25-27)Gga>Cga	p.G9R	ABCB4_ENST00000358400.3_Missense_Mutation_p.G9R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G9R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G9R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G9R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	9					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G9R(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CAGGCTGTTCCGTTCTTTGCC	0.632																																						uc003uiv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(25-27)GGA>CGA		ATP-binding cassette, subfamily B, member 4							69.0	64.0	66.0					7																	87104757		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87104757C>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.25G>C	7.37:g.87104757C>G	ENSP00000265723:p.Gly9Arg					ABCB4_uc003uiw.1_Missense_Mutation_p.G9R|ABCB4_uc003uix.1_Missense_Mutation_p.G9R|ABCB4_uc003uiy.2_Missense_Mutation_p.G9R	p.G9R	NM_018849	NP_061337	P21439	MDR3_HUMAN			2	101	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		9			Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.25G>C	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315043	0.40996	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634;ENST00000417608	D;D;D;D;D	0.87256	-2.18;-2.23;-2.21;-2.23;-2.18	3.85	2.95	0.34219	.	.	.	.	.	T	0.75752	0.3892	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16603	0.018;0.0;0.001;0.0	B;B;B;B	0.15484	0.013;0.001;0.005;0.002	T	0.63791	-0.6557	9	0.40728	T	0.16	0.0079	9.1016	0.36671	0.0:0.7753:0.2247:0.0	.	9;9;9;9	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	R	9	ENSP00000352135:G9R;ENSP00000351172:G9R;ENSP00000265723:G9R;ENSP00000392983:G9R;ENSP00000437465:G9R	ENSP00000265723:G9R	G	-	1	0	ABCB4	86942693	0.712000	0.27916	0.014000	0.15608	0.600000	0.36913	1.585000	0.36600	0.806000	0.34183	0.637000	0.83480	GGA		PASS	0.632	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		5	29	5	29	---	---	---	---
PPP1R9A	55607	broad.mit.edu	37	7	94917904	94917904	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:94917904G>T	ENST00000433881.1	+	15	3490	c.2958G>T	c.(2956-2958)caG>caT	p.Q986H	PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Q986H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Q1262H|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.Q1184H			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	986	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.Q1262H(1)|p.Q1210H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GGGCCGTTCAGGAATGGAGTG	0.453										HNSCC(28;0.073)																												uc003unp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2956-2958)CAG>CAT		protein phosphatase 1, regulatory (inhibitor)							181.0	147.0	158.0					7																	94917904		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94917904G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2958G>T	7.37:g.94917904G>T	ENSP00000398870:p.Gln986His	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.Q1262H|PPP1R9A_uc011kif.1_Missense_Mutation_p.Q1184H|PPP1R9A_uc003unq.2_Intron|PPP1R9A_uc011kig.1_Missense_Mutation_p.Q978H|PPP1R9A_uc003unr.2_Missense_Mutation_p.Q275H	p.Q986H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		15	3240	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		986			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2958G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	0.586	-0.835069	0.02713	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000433881;ENST00000289495	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.61	-0.229	0.13094	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.950482	0.08894	N	0.878207	T	0.22437	0.0541	N	0.11560	0.145	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0	T	0.25813	-1.0121	10	0.08599	T	0.76	.	13.1957	0.59736	0.0:0.0737:0.708:0.2183	.	978;1184;1262;1202;986	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;Q9ULJ8	.;.;.;.;NEB1_HUMAN	H	1262;986;986;1184	ENSP00000405514:Q1262H;ENSP00000344524:Q986H;ENSP00000398870:Q986H;ENSP00000289495:Q1184H	ENSP00000289495:Q1184H	Q	+	3	2	PPP1R9A	94755840	0.008000	0.16893	0.652000	0.29579	0.015000	0.08874	-0.056000	0.11787	0.126000	0.18424	-0.262000	0.10625	CAG		PASS	0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		39	38	39	38	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99129345	99129345	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:99129345G>T	ENST00000394170.2	+	7	2244	c.1993G>T	c.(1993-1995)Gaa>Taa	p.E665*	ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.E665*|ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.E665*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	665					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.E665*(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCAGTGTCGTGAATGTGGGGA	0.468																																						uc003uqv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1993-1995)GAA>TAA		zinc finger with KRAB and SCAN domains 5							129.0	114.0	119.0					7																	99129345		2203	4300	6503	SO:0001587	stop_gained	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99129345G>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1993G>T	7.37:g.99129345G>T	ENSP00000377725:p.Glu665*					ZKSCAN5_uc010lfx.2_Nonsense_Mutation_p.E665*|ZKSCAN5_uc003uqw.2_Nonsense_Mutation_p.E665*|ZKSCAN5_uc003uqx.2_Nonsense_Mutation_p.E592*|ZKSCAN5_uc003uqy.2_Nonsense_Mutation_p.E401*	p.E665*	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			7	2117	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		665			C2H2-type 9.		A4D280|D6W5S9	Nonsense_Mutation	SNP	ENST00000394170.2	37	c.1993G>T	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	37	6.281013	0.97440	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	.	.	.	5.11	5.11	0.69529	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.4489	0.83973	0.0:0.0:1.0:0.0	.	.	.	.	X	665	.	ENSP00000322872:E665X	E	+	1	0	ZKSCAN5	98967281	0.001000	0.12720	0.984000	0.44739	0.764000	0.43329	0.453000	0.21811	2.832000	0.97577	0.655000	0.94253	GAA		PASS	0.468	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		42	41	42	41	---	---	---	---
MOSPD3	64598	broad.mit.edu	37	7	100210858	100210858	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:100210858G>C	ENST00000393950.2	+	2	529	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	MOSPD3_ENST00000379527.2_Missense_Mutation_p.E83Q|MOSPD3_ENST00000424091.2_Missense_Mutation_p.E83Q|MOSPD3_ENST00000223054.4_Missense_Mutation_p.E83Q	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	83	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.E83Q(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTTTGACGCAGAGGGATATGT	0.567																																						uc003uvq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(247-249)GAG>CAG		motile sperm domain containing 3 isoform a							226.0	196.0	206.0					7																	100210858		2203	4300	6503	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100210858G>C	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.247G>C	7.37:g.100210858G>C	ENSP00000377522:p.Glu83Gln					MOSPD3_uc003uvr.2_Missense_Mutation_p.E83Q|MOSPD3_uc003uvs.2_Missense_Mutation_p.E83Q|MOSPD3_uc003uvt.2_Missense_Mutation_p.E83Q	p.E83Q	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN			3	449	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		83			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.247G>C	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774194	0.49786	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	3.77	3.77	0.43336	PapD-like (2);	0.193003	0.33127	N	0.005258	T	0.76004	0.3927	L	0.36672	1.1	0.36627	D	0.876097	D;P	0.69078	0.997;0.582	D;P	0.79108	0.992;0.465	T	0.79815	-0.1644	10	0.48119	T	0.1	-4.9738	13.9826	0.64315	0.0:0.0:1.0:0.0	.	83;83	C9JE89;O75425	.;MSPD3_HUMAN	Q	83;83;83;83;83;69	ENSP00000223054:E83Q;ENSP00000417276:E83Q;ENSP00000368842:E83Q;ENSP00000377522:E83Q;ENSP00000404626:E83Q	ENSP00000223054:E83Q	E	+	1	0	MOSPD3	100048794	0.847000	0.29606	0.965000	0.40720	0.989000	0.77384	2.059000	0.41384	2.419000	0.82065	0.456000	0.33151	GAG		PASS	0.567	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		86	124	86	124	---	---	---	---
ORC5	5001	broad.mit.edu	37	7	103808925	103808925	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:103808925C>T	ENST00000297431.4	-	9	1015	c.873G>A	c.(871-873)ctG>ctA	p.L291L	ORC5_ENST00000545943.1_Silent_p.L159L|ORC5_ENST00000447452.2_Silent_p.L291L	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	291					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.L291L(2)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGATACCTTTCAGTTGCCCCG	0.333																																						uc003vcb.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(871-873)CTG>CTA		origin recognition complex subunit 5 isoform 1							127.0	122.0	123.0					7																	103808925		2203	4300	6503	SO:0001819	synonymous_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103808925C>T		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.873G>A	7.37:g.103808925C>T						ORC5L_uc011klp.1_Silent_p.L159L|ORC5L_uc003vcc.2_Silent_p.L291L	p.L291L	NM_002553	NP_002544	O43913	ORC5_HUMAN			9	984	-			291					A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	c.873G>A	CCDS5734.1																																																																																				PASS	0.333	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		32	22	32	22	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106509912	106509912	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:106509912T>C	ENST00000359195.3	+	2	2216	c.1906T>C	c.(1906-1908)Tca>Cca	p.S636P	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S636P|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S636P	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	636	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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.S636P(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						CTGCAACTTCTCAGATGAAAA	0.453																																						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.(1906-1908)TCA>CCA		phosphoinositide-3-kinase, catalytic, gamma							58.0	57.0	58.0					7																	106509912		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.chr7:106509912T>C		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.1906T>C	7.37:g.106509912T>C	ENSP00000352121:p.Ser636Pro					PIK3CG_uc003vdu.2_Missense_Mutation_p.S636P|PIK3CG_uc003vdw.2_Missense_Mutation_p.S636P	p.S636P	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1991	+			636					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1906T>C	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	T	4.378	0.069754	0.08436	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.63255	-0.03;-0.03;-0.03	5.54	4.4	0.53042	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.057017	0.64402	N	0.000001	T	0.36082	0.0954	N	0.10618	0.005	0.58432	D	0.999991	B	0.17268	0.021	B	0.17433	0.018	T	0.25012	-1.0144	10	0.02654	T	1	-2.4671	11.3756	0.49726	0.0:0.0707:0.0:0.9293	.	636	P48736	PK3CG_HUMAN	P	636	ENSP00000392258:S636P;ENSP00000419260:S636P;ENSP00000352121:S636P	ENSP00000352121:S636P	S	+	1	0	PIK3CG	106297148	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.806000	0.62569	0.945000	0.37605	0.533000	0.62120	TCA		PASS	0.453	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			9	62	9	62	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106524666	106524667	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:106524666_106524667GG>TT	ENST00000359195.3	+	9	3137_3138	c.2827_2828GG>TT	c.(2827-2829)GGa>TTa	p.G943L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.G943L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.G943L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	943	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.G943L(1)|p.G943V(1)|p.G943*(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						CTTTGTTCTTGGAATAGGCGAC	0.347																																						uc003vdv.3																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(2827-2829)GGA>TGA|c.(2827-2829)GGA>GTA		phosphoinositide-3-kinase, catalytic, gamma																																				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.chr7:106524666G>T|g.chr7:106524667G>T		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	Exception_encountered	7.37:g.106524666_106524667delinsTT	ENSP00000352121:p.Gly943Leu					PIK3CG_uc003vdu.2_Nonsense_Mutation_p.G943*|PIK3CG_uc003vdw.2_Nonsense_Mutation_p.G943*|PIK3CG_uc003vdu.2_Missense_Mutation_p.G943V|PIK3CG_uc003vdw.2_Missense_Mutation_p.G943V	p.G943*|p.G943V	NM_002649	NP_002640	P48736	PK3CG_HUMAN			9	2912|2913	+			943			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000359195.3	37	c.2827G>T|c.2828G>T	CCDS5739.1																																																																																				PASS	0.347	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			30|29	60|62	29	60	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121726155	121726155	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:121726155C>A	ENST00000393376.1	-	18	2190	c.2095G>T	c.(2095-2097)Ggc>Tgc	p.G699C	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.G699C			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	699	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.G699C(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTAGGATAGCCTTCCAAATTT	0.438																																						uc003vka.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2095-2097)GGC>TGC		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						97.0	93.0	94.0					7																	121726155		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121726155C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2095G>T	7.37:g.121726155C>A	ENSP00000377040:p.Gly699Cys					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.G699C|AASS_uc011knw.1_Missense_Mutation_p.G187C	p.G699C	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			18	2191	-			699			Saccharopine dehydrogenase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.2095G>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505793	0.85282	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.43688	0.94;0.94	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	L	0.52759	1.655	0.80722	D	1	D	0.62365	0.991	D	0.68039	0.955	T	0.59904	-0.7366	10	0.56958	D	0.05	-11.2491	15.3375	0.74269	0.0:0.9325:0.0:0.0675	.	699	Q9UDR5	AASS_HUMAN	C	699	ENSP00000377040:G699C;ENSP00000403768:G699C	ENSP00000351834:G699C	G	-	1	0	AASS	121513391	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.719000	0.68462	1.590000	0.49995	0.655000	0.94253	GGC		PASS	0.438	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		23	34	23	34	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122111611	122111611	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:122111611C>A	ENST00000449022.2	-	14	2023	c.2004G>T	c.(2002-2004)tgG>tgT	p.W668C	CADPS2_ENST00000313070.7_Missense_Mutation_p.W665C|CADPS2_ENST00000412584.2_Missense_Mutation_p.W665C|CADPS2_ENST00000334010.7_Missense_Mutation_p.W669C	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	668					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.W668C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGGGCTAAACCATCCCTGCA	0.413																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2002-2004)TGG>TGT		Ca2+-dependent activator protein for secretion 2							40.0	39.0	39.0					7																	122111611		1893	4119	6012	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122111611C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2004G>T	7.37:g.122111611C>A	ENSP00000398481:p.Trp668Cys					CADPS2_uc011knx.1_Missense_Mutation_p.W39C|CADPS2_uc003vkg.3_Missense_Mutation_p.W365C|CADPS2_uc010lkq.2_Missense_Mutation_p.W665C	p.W668C	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			13	2167	-			668					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2004G>T	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.074194|4.074194	0.76415|0.76415	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|T;T;T;T	.|0.33654	.|1.4;1.4;1.4;1.4	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62696|0.62696	0.2449|0.2449	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.947;0.996;0.942;0.998	T|T	0.60167|0.60167	-0.7316|-0.7316	5|10	.|0.51188	.|T	.|0.08	-4.3982|-4.3982	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|668;665;668;665	.|B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.|.;.;CAPS2_HUMAN;.	F|C	314|665;669;669;632;665;668	.|ENSP00000325581:W665C;ENSP00000333940:W669C;ENSP00000400401:W665C;ENSP00000398481:W668C	.|ENSP00000325581:W665C	V|W	-|-	1|3	0|0	CADPS2|CADPS2	121898847|121898847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GTT|TGG		PASS	0.413	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		8	11	8	11	---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123594272	123594272	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:123594272G>T	ENST00000439500.1	+	4	1261	c.648G>T	c.(646-648)tgG>tgT	p.W216C	SPAM1_ENST00000460182.1_Missense_Mutation_p.W216C|SPAM1_ENST00000402183.2_Missense_Mutation_p.W216C|SPAM1_ENST00000223028.7_Missense_Mutation_p.W216C|SPAM1_ENST00000340011.5_Missense_Mutation_p.W216C	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	216					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.W216C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATCACTTGTGGGGTTATTATC	0.368																																						uc003vld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)	4						c.(646-648)TGG>TGT		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						82.0	87.0	85.0					7																	123594272		2203	4299	6502	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594272G>T	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.648G>T	7.37:g.123594272G>T	ENSP00000402123:p.Trp216Cys					SPAM1_uc003vle.2_Missense_Mutation_p.W216C|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.W216C|SPAM1_uc010lku.2_Missense_Mutation_p.W216C	p.W216C	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	1050	+			216					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.648G>T	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793614	0.90453	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.058000	0.85682	D	0.000000	D	0.90359	0.6983	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92434	0.5956	9	.	.	.	-24.8157	19.8676	0.96824	0.0:0.0:1.0:0.0	.	216;216	Q8TC30;P38567	.;HYALP_HUMAN	C	216	ENSP00000386028:W216C;ENSP00000417934:W216C;ENSP00000345849:W216C;ENSP00000402123:W216C;ENSP00000223028:W216C	.	W	+	3	0	SPAM1	123381508	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGG		PASS	0.368	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			25	40	25	40	---	---	---	---
IMPDH1	3614	broad.mit.edu	37	7	128038584	128038584	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:128038584G>A	ENST00000480861.1	-	7	765	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	IMPDH1_ENST00000354269.5_Silent_p.L310L|IMPDH1_ENST00000343214.4_Silent_p.L210L|IMPDH1_ENST00000419067.2_Silent_p.L287L|IMPDH1_ENST00000338791.6_Silent_p.L320L|IMPDH1_ENST00000470772.1_Silent_p.L234L|IMPDH1_ENST00000496200.1_Silent_p.L210L|IMPDH1_ENST00000378717.4_Silent_p.L251L|IMPDH1_ENST00000348127.6_Silent_p.L284L	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1									p.L320L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TTGGAGGCCAGAGGGTAGTCT	0.597											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kol.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(703-705)CTG>TTG		inosine monophosphate dehydrogenase 1 isoform e	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						71.0	77.0	75.0					7																	128038584		2203	4300	6503	SO:0001819	synonymous_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128038584G>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.688C>T	7.37:g.128038584G>A			OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1561	IMPDH1_uc011kom.1_Silent_p.L230L|IMPDH1_uc003vmt.2_Silent_p.L210L|IMPDH1_uc003vmu.2_Silent_p.L320L|IMPDH1_uc003vmw.2_Silent_p.L310L|IMPDH1_uc011kon.1_Silent_p.L287L|IMPDH1_uc003vmv.2_Silent_p.L284L|IMPDH1_uc003vmx.2_Silent_p.L243L|IMPDH1_uc003vmy.2_Silent_p.L251L	p.L235L	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			7	809	-			235			CBS 2.			Silent	SNP	ENST00000480861.1	37	c.703C>T	CCDS55161.1																																																																																				PASS	0.597	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		39	35	39	35	---	---	---	---
IMPDH1	3614	broad.mit.edu	37	7	128041089	128041089	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:128041089C>A	ENST00000480861.1	-	3	306	c.229G>T	c.(229-231)Gac>Tac	p.D77Y	IMPDH1_ENST00000354269.5_Missense_Mutation_p.D152Y|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D77Y|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D129Y|IMPDH1_ENST00000338791.6_Missense_Mutation_p.D162Y|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D77Y|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D77Y|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D93Y|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D126Y	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1									p.D162Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						ATGGCCATGTCAGCCTCTGTC	0.612																																						uc011kol.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(229-231)GAC>TAC		inosine monophosphate dehydrogenase 1 isoform e	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						99.0	85.0	90.0					7																	128041089		2203	4300	6503	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128041089C>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.229G>T	7.37:g.128041089C>A	ENSP00000420185:p.Asp77Tyr					IMPDH1_uc011kom.1_Missense_Mutation_p.D77Y|IMPDH1_uc003vmt.2_Missense_Mutation_p.D77Y|IMPDH1_uc003vmu.2_Missense_Mutation_p.D162Y|IMPDH1_uc003vmw.2_Missense_Mutation_p.D152Y|IMPDH1_uc011kon.1_Missense_Mutation_p.D129Y|IMPDH1_uc003vmv.2_Missense_Mutation_p.D126Y|IMPDH1_uc003vmx.2_Missense_Mutation_p.D85Y|IMPDH1_uc003vmy.2_Missense_Mutation_p.D93Y	p.D77Y	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			3	335	-			77						Missense_Mutation	SNP	ENST00000480861.1	37	c.229G>T	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957615	0.53400	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868;ENST00000489263	T;T;T;T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.21;-1.24	4.95	4.95	0.65309	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.105860	0.64402	D	0.000008	T	0.81153	0.4763	L	0.59967	1.855	0.23361	N	0.997836	P;B;B;P;P;B;B;B	0.40834	0.73;0.374;0.374;0.603;0.707;0.012;0.074;0.323	P;B;B;P;P;B;B;B	0.52710	0.707;0.367;0.367;0.615;0.615;0.038;0.063;0.251	T	0.74668	-0.3588	10	0.72032	D	0.01	-39.7606	9.3469	0.38113	0.0:0.9031:0.0:0.0969	.	129;77;77;93;152;126;162;77	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	Y	129;162;77;152;93;126;77;77;77;93;93	ENSP00000399400:D129Y;ENSP00000345096:D162Y;ENSP00000420803:D77Y;ENSP00000346219:D152Y;ENSP00000367989:D93Y;ENSP00000265385:D126Y;ENSP00000342438:D77Y;ENSP00000417296:D77Y;ENSP00000420185:D77Y;ENSP00000419609:D93Y;ENSP00000418592:D93Y	ENSP00000345096:D162Y	D	-	1	0	IMPDH1	127828325	0.168000	0.22989	0.997000	0.53966	0.992000	0.81027	0.752000	0.26362	2.294000	0.77228	0.655000	0.94253	GAC		PASS	0.612	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		17	15	17	15	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131872353	131872353	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:131872353G>A	ENST00000359827.3	-	15	3832	c.2870C>T	c.(2869-2871)tCa>tTa	p.S957L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S957L			Q9HCM2	PLXA4_HUMAN	plexin A4	957	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.S957L(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTTCAGATCTGAGAGAGTCAG	0.607																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2869-2871)TCA>TTA		plexin A4 isoform 1							136.0	146.0	143.0					7																	131872353		2054	4195	6249	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131872353G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2870C>T	7.37:g.131872353G>A	ENSP00000352882:p.Ser957Leu						p.S957L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			15	3099	-			957			IPT/TIG 2.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2870C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	8.850	0.944276	0.18356	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.79141	-1.24;-1.24	5.5	5.5	0.81552	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	11.192400	0.00166	N	0.000013	T	0.73552	0.3601	L	0.37507	1.11	0.37027	D	0.896494	B	0.06786	0.001	B	0.09377	0.004	T	0.37572	-0.9700	10	0.10902	T	0.67	.	15.1022	0.72288	0.0:0.0:0.8579:0.1421	.	957	Q9HCM2	PLXA4_HUMAN	L	957	ENSP00000323194:S957L;ENSP00000352882:S957L	ENSP00000323194:S957L	S	-	2	0	PLXNA4	131522893	0.082000	0.21442	1.000000	0.80357	0.995000	0.86356	0.443000	0.21644	2.611000	0.88343	0.549000	0.68633	TCA		PASS	0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		84	59	84	59	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135048770	135048770	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:135048770C>A	ENST00000451834.1	-	11	1950	c.1667G>T	c.(1666-1668)gGg>gTg	p.G556V	CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.G559V|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000473470.1_5'UTR			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G559V(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGCCCTTAGCCCGTCCTGCCA	0.423																																					Ovarian(51;766 1130 5502 35047 50875)	uc011kpy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1675-1677)GGG>GTG		CCR4-NOT transcription complex, subunit 4							242.0	214.0	223.0					7																	135048770		876	1991	2867	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135048770C>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.1667G>T	7.37:g.135048770C>A	ENSP00000388491:p.Gly556Val					CNOT4_uc003vss.2_Intron|CNOT4_uc011kpz.1_Missense_Mutation_p.G556V|CNOT4_uc003vst.2_Intron	p.G559V	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			10	1768	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000451834.1	37	c.1676G>T	CCDS55167.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012924	0.75161	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000262563	T;T	0.74737	-0.83;-0.87	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.84615	0.5511	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.83617	0.0137	10	0.51188	T	0.08	-4.0407	20.1381	0.98040	0.0:1.0:0.0:0.0	.	556;559	E7ET38;F8VQP3	.;.	V	559;556;559	ENSP00000445508:G559V;ENSP00000388491:G556V	ENSP00000262563:G559V	G	-	2	0	CNOT4	134699310	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.487000	0.81328	2.763000	0.94921	0.650000	0.86243	GGG		PASS	0.423	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		12	133	12	133	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141429329	141429329	+	Splice_Site	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:141429329A>C	ENST00000397541.2	+	11	1941		c.e11-1		WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000495800.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)						female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CTCGCACTTCAGGGAACTGAG	0.448																																						uc003vwn.2																			1	Unknown(1)		lung(1)	ovary(1)|stomach(1)	2						c.e11-2		WEE1 homolog 2							81.0	81.0	81.0					7																	141429329		1847	4099	5946	SO:0001630	splice_region_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141429329A>C	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1536-1A>C	7.37:g.141429329A>C						FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.R512_splice	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			11	1942	+	Melanoma(164;0.0171)								Splice_Site	SNP	ENST00000397541.2	37	c.1536_splice	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019839	0.54576	.	.	ENSG00000214102	ENST00000397541	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0561	0.80805	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WEE2	141075798	1.000000	0.71417	0.958000	0.39756	0.535000	0.34838	5.712000	0.68407	2.326000	0.78906	0.533000	0.62120	.		PASS	0.448	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558	Intron	14	81	14	81	---	---	---	---
OR6V1	346517	broad.mit.edu	37	7	142750136	142750136	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:142750136G>T	ENST00000418316.1	+	1	720	c.699G>T	c.(697-699)caG>caT	p.Q233H		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q233H(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCAGCTGCCAGAAGGCTTTCT	0.552																																						uc011ksv.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(697-699)CAG>CAT		olfactory receptor, family 6, subfamily V,							135.0	138.0	137.0					7																	142750136		2044	4194	6238	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750136G>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.699G>T	7.37:g.142750136G>T	ENSP00000396085:p.Gln233His						p.Q233H	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	699	+	Melanoma(164;0.059)		233			Cytoplasmic (Potential).		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.699G>T	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	6.870	0.529919	0.13127	.	.	ENSG00000225781	ENST00000418316	T	0.00028	8.92	4.45	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.31294	0.92	0.09310	N	1	B	0.20988	0.05	B	0.28139	0.086	T	0.06110	-1.0845	9	0.44086	T	0.13	.	2.9882	0.05974	0.1397:0.4864:0.2104:0.1635	.	233	Q8N148	OR6V1_HUMAN	H	233	ENSP00000396085:Q233H	ENSP00000396085:Q233H	Q	+	3	2	OR6V1	142460258	0.000000	0.05858	0.124000	0.21820	0.328000	0.28507	-1.030000	0.03581	-0.147000	0.11254	0.655000	0.94253	CAG		PASS	0.552	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			48	35	48	35	---	---	---	---
TAS2R41	259287	broad.mit.edu	37	7	143175872	143175872	+	Missense_Mutation	SNP	G	G	T	rs553981729	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:143175872G>T	ENST00000408916.1	+	1	907	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	303					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G303C(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GTTGGCAAGGGGCTTCTGGGT	0.522																																						uc003wdc.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(907-909)GGC>TGC		taste receptor, type 2, member 41							82.0	73.0	76.0					7																	143175872		2026	4188	6214	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175872G>T	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.907G>T	7.37:g.143175872G>T	ENSP00000386201:p.Gly303Cys					uc003wda.2_Intron	p.G303C	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	907	+	Melanoma(164;0.15)		303			Cytoplasmic (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.907G>T	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799365	0.31869	.	.	ENSG00000221855	ENST00000408916	T	0.00808	5.67	5.48	3.6	0.41247	.	0.559373	0.14920	U	0.290718	T	0.01222	0.0040	N	0.08118	0	0.30096	N	0.80785	D	0.65815	0.995	P	0.57371	0.819	T	0.55121	-0.8190	10	0.62326	D	0.03	.	6.9479	0.24528	0.0886:0.0:0.7393:0.1721	.	303	P59536	T2R41_HUMAN	C	303	ENSP00000386201:G303C	ENSP00000386201:G303C	G	+	1	0	TAS2R41	142885994	0.744000	0.28250	0.988000	0.46212	0.136000	0.21042	1.038000	0.30254	1.495000	0.48549	0.655000	0.94253	GGC		PASS	0.522	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			16	10	16	10	---	---	---	---
GIMAP1	170575	broad.mit.edu	37	7	150417175	150417175	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:150417175G>A	ENST00000307194.5	+	3	223	c.83G>A	c.(82-84)cGg>cAg	p.R28Q		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	28	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.R28Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGTCCACGCGGAGGCTCATC	0.557																																						uc003whq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(82-84)CGG>CAG		GTPase, IMAP family member 1							122.0	141.0	135.0					7																	150417175		2197	4278	6475	SO:0001583	missense	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417175G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.83G>A	7.37:g.150417175G>A	ENSP00000302833:p.Arg28Gln					GIMAP1_uc003whp.2_Missense_Mutation_p.R36Q	p.R28Q	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	170	+			28			Cytoplasmic (Potential).		B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.83G>A	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190160	0.38707	.	.	ENSG00000213203	ENST00000307194	T	0.61158	0.13	4.82	3.67	0.42095	.	0.070107	0.52532	U	0.000074	T	0.43389	0.1245	L	0.49571	1.57	0.25784	N	0.984699	D	0.62365	0.991	B	0.34652	0.187	T	0.48103	-0.9064	10	0.72032	D	0.01	.	8.5615	0.33514	0.0:0.0:0.1983:0.8017	.	28	Q8WWP7	GIMA1_HUMAN	Q	28	ENSP00000302833:R28Q	ENSP00000302833:R28Q	R	+	2	0	GIMAP1	150048108	0.992000	0.36948	0.844000	0.33320	0.023000	0.10783	1.581000	0.36558	0.890000	0.36211	-0.256000	0.11100	CGG		PASS	0.557	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		83	101	83	101	---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150921165	150921165	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:150921165C>T	ENST00000287844.2	-	4	512	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.E135K	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	135	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.E135K(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGGGCACTTCACGCTTCCCA	0.532																																						uc003wjp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(403-405)GAA>AAA		ATP-binding cassette, sub-family F, member 2							102.0	88.0	93.0					7																	150921165		2203	4300	6503	SO:0001583	missense	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150921165C>T	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.403G>A	7.37:g.150921165C>T	ENSP00000287844:p.Glu135Lys					ABCF2_uc003wjo.1_Missense_Mutation_p.E135K	p.E135K	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	514	-			135			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	c.403G>A	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	C	36	5.729364	0.96856	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;T;T	0.94046	-3.34;-3.34;3.83;3.83	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.042606	0.85682	D	0.000000	D	0.96654	0.8908	M	0.81802	2.56	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.66497	0.944;0.944	D	0.96318	0.9234	10	0.54805	T	0.06	0.365	19.0707	0.93134	0.0:1.0:0.0:0.0	.	135;135	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	K	135	ENSP00000222388:E135K;ENSP00000287844:E135K;ENSP00000419720:E135K;ENSP00000395785:E135K	ENSP00000222388:E135K	E	-	1	0	ABCF2	150552098	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	7.549000	0.82163	2.746000	0.94184	0.655000	0.94253	GAA		PASS	0.532	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		38	25	38	25	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154564582	154564583	+	Nonsense_Mutation	DNP	CT	CT	TA			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:154564582_154564583CT>TA	ENST00000377770.3	+	10	1207_1208	c.1066_1067CT>TA	c.(1066-1068)CTa>TAa	p.L356*	DPP6_ENST00000404039.1_Nonsense_Mutation_p.L292*|DPP6_ENST00000332007.3_Nonsense_Mutation_p.L294*|DPP6_ENST00000427557.1_Nonsense_Mutation_p.L249*			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	356					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.L294*(1)|p.L356*(1)|p.L294L(1)|p.L356L(1)|p.L292Q(1)|p.L292L(1)|p.L292*(1)|p.L356Q(1)|p.L294Q(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAGCATTTCCCTACACGTTATT	0.465																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			9	Substitution - Nonsense(3)|Substitution - Missense(3)|Substitution - coding silent(3)		lung(9)	pancreas(3)|breast(1)	4						c.(1066-1068)CTA>TTA|c.(1066-1068)CTA>CAA		dipeptidyl-peptidase 6 isoform 1																																				SO:0001587	stop_gained	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154564582C>T|g.chr7:154564583T>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	Exception_encountered	7.37:g.154564582_154564583delinsTA	ENSP00000367001:p.Leu356*					DPP6_uc003wli.2_Silent_p.L292L|DPP6_uc003wlm.2_Silent_p.L294L|DPP6_uc011kvq.1_Silent_p.L249L|DPP6_uc003wli.2_Missense_Mutation_p.L292Q|DPP6_uc003wlm.2_Missense_Mutation_p.L294Q|DPP6_uc011kvq.1_Missense_Mutation_p.L249Q	p.L356L|p.L356Q	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		10	1195|1196	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	356			Extracellular (Potential).			Silent|Missense_Mutation	SNP	ENST00000377770.3	37	c.1066C>T|c.1067T>A																																																																																					PASS	0.465	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		17	27	17	27	---	---	---	---
SHH	6469	broad.mit.edu	37	7	155598997	155598997	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:155598997C>T	ENST00000297261.2	-	2	705	c.555G>A	c.(553-555)gtG>gtA	p.V185V	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	185					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.V185V(1)		central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCTGCTTTCACCGAGCAGT	0.627																																						uc003wmk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|lung(1)	4						c.(553-555)GTG>GTA		sonic hedgehog preproprotein							60.0	58.0	59.0					7																	155598997		2203	4298	6501	SO:0001819	synonymous_variant	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155598997C>T		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.555G>A	7.37:g.155598997C>T						SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Silent_p.V98V|SHH_uc003wmj.1_Silent_p.V98V	p.V185V	NM_000193	NP_000184	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	706	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	185					A4D247|Q75MC9	Silent	SNP	ENST00000297261.2	37	c.555G>A	CCDS5942.1																																																																																				PASS	0.627	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		7	31	7	31	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157396693	157396693	+	Splice_Site	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr7:157396693C>T	ENST00000389418.4	-	16	2428		c.e16+1		PTPRN2_ENST00000389413.3_Splice_Site|PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2						negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGTGCACTTACGATGGGGCTA	0.627																																						uc003wno.2																			1	Unknown(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.e16+1		protein tyrosine phosphatase, receptor type, N							108.0	82.0	91.0					7																	157396693		2203	4300	6503	SO:0001630	splice_region_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157396693C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2418+1G>A	7.37:g.157396693C>T						PTPRN2_uc003wnp.2_Splice_Site_p.I789_splice|PTPRN2_uc003wnq.2_Splice_Site_p.I777_splice|PTPRN2_uc003wnr.2_Splice_Site_p.I768_splice|PTPRN2_uc011kwa.1_Splice_Site_p.I829_splice	p.I806_splice	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	16	2539	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)						E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Splice_Site	SNP	ENST00000389418.4	37	c.2418_splice	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101248	0.76983	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9486	0.92632	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRN2	157089454	1.000000	0.71417	0.985000	0.45067	0.611000	0.37282	6.868000	0.75516	2.479000	0.83701	0.655000	0.94253	.		PASS	0.627	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		Intron	10	24	10	24	---	---	---	---
DEFA5	1670	broad.mit.edu	37	8	6914138	6914138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:6914138C>A	ENST00000330590.2	-	1	118	c.82G>T	c.(82-84)Gag>Tag	p.E28*		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	28					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)		p.E28*(1)		NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GTTGTAGCCTCATCAGCTCTT	0.567																																						uc003wra.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(82-84)GAG>TAG		defensin, alpha 5 preproprotein							139.0	125.0	130.0					8																	6914138		2203	4300	6503	SO:0001587	stop_gained	1670				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6914138C>A	BC069690	CCDS5963.1	8p23.1	2007-02-20			ENSG00000164816	ENSG00000164816		"""Defensins, alpha"""	2764	protein-coding gene	gene with protein product		600472		DEF5		1429669	Standard	NM_021010		Approved	HD-5	uc003wra.1	Q01523	OTTHUMG00000090383	ENST00000330590.2:c.82G>T	8.37:g.6914138C>A	ENSP00000329890:p.Glu28*						p.E28*	NM_021010	NP_066290	Q01523	DEF5_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	122	-			28					A0JDY6|Q3KNV2	Nonsense_Mutation	SNP	ENST00000330590.2	37	c.82G>T	CCDS5963.1	.	.	.	.	.	.	.	.	.	.	.	14.80	2.643004	0.47153	.	.	ENSG00000164816	ENST00000330590	.	.	.	2.85	1.95	0.26073	.	0.207930	0.23861	N	0.043850	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.4457	0.27209	0.0:0.6317:0.3683:0.0	.	.	.	.	X	28	.	ENSP00000329890:E28X	E	-	1	0	DEFA5	6901548	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.398000	0.02509	0.525000	0.28522	0.558000	0.71614	GAG		PASS	0.567	DEFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206755.1	NM_021010		22	22	22	22	---	---	---	---
SORBS3	10174	broad.mit.edu	37	8	22421834	22421834	+	Silent	SNP	G	G	C	rs201952170		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:22421834G>C	ENST00000240123.7	+	9	1097	c.714G>C	c.(712-714)acG>acC	p.T238T	RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000428103.1_5'Flank	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	238					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.T238T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ATGTCTGGACGGAAGAGTCCT	0.582																																						uc003xbv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(712-714)ACG>ACC		sorbin and SH3 domain containing 3 isoform 1							61.0	59.0	60.0					8																	22421834		2203	4300	6503	SO:0001819	synonymous_variant	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22421834G>C		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.714G>C	8.37:g.22421834G>C						SORBS3_uc011kzk.1_RNA|SORBS3_uc003xbw.3_5'Flank	p.T238T	NM_005775	NP_005766	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	9	1054	+		Prostate(55;0.0421)|Breast(100;0.102)	238					Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	37	c.714G>C	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156462	0.01686	.	.	ENSG00000120896	ENST00000524057	.	.	.	4.43	-8.85	0.00799	.	.	.	.	.	T	0.36635	0.0974	.	.	.	0.42527	D	0.993025	.	.	.	.	.	.	T	0.46789	-0.9166	4	.	.	.	-0.1669	4.5833	0.12269	0.1813:0.1195:0.5815:0.1177	.	.	.	.	R	175	.	.	G	+	1	0	SORBS3	22477779	0.004000	0.15560	0.506000	0.27664	0.020000	0.10135	-2.560000	0.00921	-1.065000	0.03168	-1.264000	0.01445	GGA		PASS	0.582	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		7	9	7	9	---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28384825	28384825	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:28384825G>T	ENST00000240093.3	+	5	1026	c.548G>T	c.(547-549)cGt>cTt	p.R183L	FZD3_ENST00000537916.1_Missense_Mutation_p.R183L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	183					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R183L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CTGCATGTGCGTGATTGTTCA	0.438																																						uc003xgx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(547-549)CGT>CTT		frizzled 3 precursor							227.0	219.0	221.0					8																	28384825		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28384825G>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.548G>T	8.37:g.28384825G>T	ENSP00000240093:p.Arg183Leu					FZD3_uc010lvb.2_Missense_Mutation_p.R183L	p.R183L	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1026	+		Ovarian(32;2.06e-05)	183			Extracellular (Potential).		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.548G>T	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029165	0.35797	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.76709	-1.04;-1.04	5.24	4.37	0.52481	.	0.054573	0.64402	D	0.000001	T	0.76414	0.3984	M	0.64997	1.995	0.48087	D	0.999589	B	0.31026	0.304	B	0.35353	0.201	T	0.75712	-0.3222	10	0.52906	T	0.07	.	13.0088	0.58720	0.078:0.0:0.922:0.0	.	183	Q9NPG1	FZD3_HUMAN	L	183	ENSP00000437489:R183L;ENSP00000240093:R183L	ENSP00000240093:R183L	R	+	2	0	FZD3	28440744	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.297000	0.51810	1.202000	0.43218	0.655000	0.94253	CGT		PASS	0.438	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		28	37	28	37	---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28385267	28385267	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:28385267G>A	ENST00000240093.3	+	5	1468	c.990G>A	c.(988-990)ctG>ctA	p.L330L	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Silent_p.L330L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	330					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L330L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AAGCATTGCTGTTTCACGCCA	0.448																																						uc003xgx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(988-990)CTG>CTA		frizzled 3 precursor							149.0	143.0	145.0					8																	28385267		2203	4300	6503	SO:0001819	synonymous_variant	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385267G>A	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.990G>A	8.37:g.28385267G>A						FZD3_uc010lvb.2_Silent_p.L330L	p.L330L	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1468	+		Ovarian(32;2.06e-05)	330			Helical; Name=4; (Potential).		A8K615	Silent	SNP	ENST00000240093.3	37	c.990G>A	CCDS6069.1																																																																																				PASS	0.448	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		30	28	30	28	---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56436703	56436703	+	Missense_Mutation	SNP	G	G	C	rs200999097	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:56436703G>C	ENST00000327381.6	+	3	1970	c.1870G>C	c.(1870-1872)Gaa>Caa	p.E624Q		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	624						integral component of membrane (GO:0016021)		p.E624Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTTAGCTTTTGAATGTTCCCC	0.438													G|||	4	0.000798722	0.0	0.0	5008	,	,		21483	0.001		0.0	False		,,,				2504	0.0031					uc003xsf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(1870-1872)GAA>CAA		XK, Kell blood group complex subunit-related							117.0	108.0	111.0					8																	56436703		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436703G>C	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1870G>C	8.37:g.56436703G>C	ENSP00000328326:p.Glu624Gln						p.E624Q	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1902	+			624					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1870G>C	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276829	0.40294	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.84800	-1.9	5.55	5.55	0.83447	.	0.192454	0.56097	D	0.000038	T	0.80869	0.4706	N	0.21324	0.655	0.58432	D	0.999997	P	0.50443	0.935	P	0.48368	0.575	T	0.76793	-0.2828	10	0.10636	T	0.68	-21.6128	19.516	0.95165	0.0:0.0:1.0:0.0	.	624	Q5GH76	XKR4_HUMAN	Q	624	ENSP00000328326:E624Q	ENSP00000328326:E624Q	E	+	1	0	XKR4	56599257	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.940000	0.87693	2.623000	0.88846	0.655000	0.94253	GAA		PASS	0.438	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		30	14	30	14	---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56699597	56699597	+	Silent	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:56699597A>C	ENST00000260129.5	+	4	1617	c.1140A>C	c.(1138-1140)acA>acC	p.T380T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	380					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.T380T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CGGGGAATACAAACACAGACC	0.413																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1138-1140)ACA>ACC		trimethylguanosine synthase homolog							58.0	58.0	58.0					8																	56699597		2203	4300	6503	SO:0001819	synonymous_variant	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699597A>C	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1140A>C	8.37:g.56699597A>C						TGS1_uc010lyh.2_Silent_p.T284T	p.T380T	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1527	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	380					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Silent	SNP	ENST00000260129.5	37	c.1140A>C	CCDS34894.1																																																																																				PASS	0.413	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		21	20	21	20	---	---	---	---
CYP7A1	1581	broad.mit.edu	37	8	59409573	59409573	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:59409573C>A	ENST00000301645.3	-	3	635	c.498G>T	c.(496-498)tgG>tgT	p.W166C		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	166					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.W166C(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTTCTGTCACCCAGGCAGCGG	0.483									Neonatal Giant Cell Hepatitis																													uc003xtm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)TGG>TGT		cytochrome P450, family 7, subfamily A,							131.0	130.0	130.0					8																	59409573		2203	4300	6503	SO:0001583	missense	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409573C>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.498G>T	8.37:g.59409573C>A	ENSP00000301645:p.Trp166Cys						p.W166C	NM_000780	NP_000771	P22680	CP7A1_HUMAN			3	561	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	166					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.498G>T	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728148	0.48833	.	.	ENSG00000167910	ENST00000301645	T	0.12672	2.66	5.5	4.61	0.57282	.	0.051828	0.85682	N	0.000000	T	0.45915	0.1366	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58115	-0.7693	10	0.54805	T	0.06	-12.9103	16.522	0.84319	0.0:0.8689:0.1311:0.0	.	166	P22680	CP7A1_HUMAN	C	166	ENSP00000301645:W166C	ENSP00000301645:W166C	W	-	3	0	CYP7A1	59572127	1.000000	0.71417	0.941000	0.38009	0.241000	0.25554	7.729000	0.84864	1.426000	0.47256	0.462000	0.41574	TGG		PASS	0.483	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		42	41	42	41	---	---	---	---
SGK3	23678	broad.mit.edu	37	8	67726104	67726104	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:67726104A>G	ENST00000396596.1	+	5	484	c.270A>G	c.(268-270)agA>agG	p.R90R	SGK3_ENST00000345714.4_Silent_p.R90R|SGK3_ENST00000522398.1_Silent_p.R90R|C8orf44-SGK3_ENST00000519289.1_Silent_p.R90R|SGK3_ENST00000521198.2_Silent_p.R90R|SGK3_ENST00000520976.1_Silent_p.R90R	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	90	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.R23R(1)|p.R90R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAAACAAAGACGAGCAGGAC	0.308																																						uc003xwr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|large_intestine(1)|lung(1)|breast(1)	4						c.(268-270)AGA>AGG		serum/glucocorticoid regulated kinase 3 isoform							67.0	70.0	69.0					8																	67726104		2202	4292	6494	SO:0001819	synonymous_variant	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67726104A>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.270A>G	8.37:g.67726104A>G						SGK3_uc003xwp.2_Silent_p.R84R|SGK3_uc003xwt.2_Silent_p.R90R|SGK3_uc003xwu.2_Silent_p.R90R	p.R90R	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		5	569	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	90	R->A: Partially localized to the membrane.		PX.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Silent	SNP	ENST00000396596.1	37	c.270A>G	CCDS6195.1																																																																																				PASS	0.308	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			23	28	23	28	---	---	---	---
CPA6	57094	broad.mit.edu	37	8	68423882	68423882	+	Missense_Mutation	SNP	A	A	G	rs151119622	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:68423882A>G	ENST00000297770.4	-	4	541	c.326T>C	c.(325-327)aTa>aCa	p.I109T	CPA6_ENST00000518549.1_Missense_Mutation_p.I109T|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	109						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.I109T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAGATCTTCTATGAGGACCCT	0.378													A|||	3	0.000599042	0.0023	0.0	5008	,	,		18228	0.0		0.0	False		,,,				2504	0.0					uc003xxq.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(325-327)ATA>ACA		carboxypeptidase A6 isoform 1 precursor		A	THR/ILE	2,4404	4.2+/-10.8	0,2,2201	144.0	147.0	146.0		326	5.5	1.0	8	dbSNP_134	146	0,8600		0,0,4300	no	missense	CPA6	NM_020361.4	89	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	possibly-damaging	109/438	68423882	2,13004	2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68423882A>G	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.326T>C	8.37:g.68423882A>G	ENSP00000297770:p.Ile109Thr					CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.I109T	p.I109T	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		4	582	-			109					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.326T>C	CCDS6200.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	19.31	3.802293	0.70682	4.54E-4	0.0	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.22336	1.96;1.96	5.46	5.46	0.80206	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	M	0.76170	2.325	0.80722	D	1	D;D	0.57899	0.981;0.963	P;P	0.60286	0.872;0.87	T	0.44329	-0.9335	10	0.72032	D	0.01	.	15.1902	0.73038	1.0:0.0:0.0:0.0	.	109;109	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	T	109	ENSP00000297770:I109T;ENSP00000431112:I109T	ENSP00000297770:I109T	I	-	2	0	CPA6	68586436	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.685000	0.68204	2.074000	0.62210	0.528000	0.53228	ATA		PASS	0.378	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		55	42	55	42	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70501234	70501234	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:70501234G>A	ENST00000260128.4	+	8	1309	c.592G>A	c.(592-594)Gag>Aag	p.E198K	SULF1_ENST00000402687.4_Missense_Mutation_p.E198K|SULF1_ENST00000458141.2_Missense_Mutation_p.E198K|SULF1_ENST00000419716.3_Missense_Mutation_p.E198K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	198					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.E198K(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AATCACTAACGAGAGCATTAA	0.428																																						uc010lza.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(592-594)GAG>AAG		sulfatase 1 precursor							93.0	88.0	90.0					8																	70501234		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70501234G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.592G>A	8.37:g.70501234G>A	ENSP00000260128:p.Glu198Lys					SULF1_uc003xyd.2_Missense_Mutation_p.E198K|SULF1_uc003xye.2_Missense_Mutation_p.E198K|SULF1_uc003xyf.2_Missense_Mutation_p.E198K|SULF1_uc003xyg.2_Missense_Mutation_p.E198K	p.E198K	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		8	1309	+	Breast(64;0.0654)		198					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.592G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165861	0.78339	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99	5.54	5.54	0.83059	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.046490	0.85682	D	0.000000	D	0.95439	0.8519	N	0.16903	0.455	0.58432	D	0.999999	B	0.18741	0.03	B	0.15484	0.013	D	0.91303	0.5068	10	0.49607	T	0.09	.	19.8424	0.96695	0.0:0.0:1.0:0.0	.	198	Q8IWU6	SULF1_HUMAN	K	198	ENSP00000403040:E198K;ENSP00000260128:E198K;ENSP00000385704:E198K;ENSP00000390315:E198K	ENSP00000260128:E198K	E	+	1	0	SULF1	70663788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.803000	0.99136	2.764000	0.94973	0.655000	0.94253	GAG		PASS	0.428	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		14	15	14	15	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70541837	70541837	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:70541837G>A	ENST00000260128.4	+	19	2924	c.2207G>A	c.(2206-2208)gGg>gAg	p.G736E	SULF1_ENST00000402687.4_Missense_Mutation_p.G736E|SULF1_ENST00000458141.2_Missense_Mutation_p.G736E|SULF1_ENST00000419716.3_Missense_Mutation_p.G736E|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	736					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.G736E(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGAGGAAGGGGGAAGAGTGC	0.537																																						uc010lza.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(2206-2208)GGG>GAG		sulfatase 1 precursor							120.0	103.0	109.0					8																	70541837		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70541837G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2207G>A	8.37:g.70541837G>A	ENSP00000260128:p.Gly736Glu					SULF1_uc003xyd.2_Missense_Mutation_p.G736E|SULF1_uc003xye.2_Missense_Mutation_p.G736E|SULF1_uc003xyf.2_Missense_Mutation_p.G736E|SULF1_uc003xyg.2_Missense_Mutation_p.G736E|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR	p.G736E	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		19	2924	+	Breast(64;0.0654)		736					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2207G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073425	0.94000	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1	4.75	4.75	0.60458	Alkaline-phosphatase-like, core domain (1);	0.107091	0.64402	D	0.000005	D	0.96586	0.8886	N	0.20986	0.625	0.80722	D	1	P	0.43352	0.804	B	0.43575	0.424	D	0.96581	0.9430	10	0.37606	T	0.19	.	17.9404	0.89025	0.0:0.0:1.0:0.0	.	736	Q8IWU6	SULF1_HUMAN	E	736	ENSP00000403040:G736E;ENSP00000260128:G736E;ENSP00000385704:G736E;ENSP00000390315:G736E	ENSP00000260128:G736E	G	+	2	0	SULF1	70704391	1.000000	0.71417	0.976000	0.42696	0.990000	0.78478	9.331000	0.96430	2.440000	0.82611	0.655000	0.94253	GGG		PASS	0.537	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		33	34	33	34	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616923	77616923	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:77616923C>G	ENST00000521891.2	+	2	1048	c.600C>G	c.(598-600)tcC>tcG	p.S200S	ZFHX4_ENST00000518282.1_Silent_p.S200S|ZFHX4_ENST00000050961.6_Silent_p.S200S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.S200S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	200					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.S200S(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)			TCGCTTCATCCCTCGGGAAAC	0.493										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(598-600)TCC>TCG		zinc finger homeodomain 4							88.0	81.0	83.0					8																	77616923		1981	4174	6155	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616923C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.600C>G	8.37:g.77616923C>G		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.S200S|ZFHX4_uc003yau.1_Silent_p.S200S|ZFHX4_uc003yaw.1_Silent_p.S200S	p.S200S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	987	+			200					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.600C>G	CCDS47878.2																																																																																				PASS	0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	60	8	60	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766955	77766955	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:77766955G>A	ENST00000521891.2	+	10	8246	c.7798G>A	c.(7798-7800)Gaa>Aaa	p.E2600K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2574K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2555K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2555K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2555					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.E2584K(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)			GAATAGCGGTGAAGACCAACA	0.448										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7663-7665)GAA>AAA		zinc finger homeodomain 4							50.0	49.0	49.0					8																	77766955		1903	4114	6017	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766955G>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.7798G>A	8.37:g.77766955G>A	ENSP00000430497:p.Glu2600Lys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.E2600K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E2555K	p.E2555K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8050	+			2555					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7663G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220890	0.39201	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53206	0.63;0.68;0.65;0.65	5.38	5.38	0.77491	Homeodomain-like (1);	0.000000	0.43110	U	0.000609	T	0.48572	0.1507	L	0.36672	1.1	0.80722	D	1	P;B;P	0.40180	0.705;0.104;0.61	P;B;B	0.44477	0.451;0.25;0.428	T	0.45833	-0.9234	10	0.51188	T	0.08	.	19.3233	0.94252	0.0:0.0:1.0:0.0	.	2555;2555;2600	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2600;2584;2555;2555;2574	ENSP00000430497:E2600K;ENSP00000399605:E2555K;ENSP00000050961:E2555K;ENSP00000430848:E2574K	ENSP00000050961:E2555K	E	+	1	0	ZFHX4	77929510	1.000000	0.71417	0.904000	0.35570	0.116000	0.19942	9.657000	0.98554	2.791000	0.96007	0.650000	0.86243	GAA		PASS	0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		33	67	33	67	---	---	---	---
CALB1	793	broad.mit.edu	37	8	91072419	91072419	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:91072419G>C	ENST00000265431.3	-	11	949	c.768C>G	c.(766-768)ctC>ctG	p.L256L	CALB1_ENST00000518457.1_Silent_p.L199L	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	256					cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)	p.L256L(1)		breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCCCAGCACAGAGAATAAGAG	0.408																																					Melanoma(46;573 1182 27367 39727 48386)	uc003yel.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(766-768)CTC>CTG		calbindin 1							189.0	168.0	175.0					8																	91072419		2203	4300	6503	SO:0001819	synonymous_variant	793					nucleus	calcium ion binding|vitamin D binding	g.chr8:91072419G>C		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.768C>G	8.37:g.91072419G>C						CALB1_uc011lge.1_Silent_p.L199L	p.L256L	NM_004929	NP_004920	P05937	CALB1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		11	950	-			256					B2R696|B7Z9J4	Silent	SNP	ENST00000265431.3	37	c.768C>G	CCDS6251.1																																																																																				PASS	0.408	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929		48	96	48	96	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95538842	95538842	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:95538842C>G	ENST00000297591.5	-	8	1705	c.1630G>C	c.(1630-1632)Gtg>Ctg	p.V544L	KIAA1429_ENST00000421249.2_Missense_Mutation_p.V544L|KIAA1429_ENST00000437199.1_Missense_Mutation_p.V544L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	544					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V544L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACAACCCTCACAGTCTGATCT	0.378																																						uc003ygo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1630-1632)GTG>CTG		hypothetical protein LOC25962 isoform 1							107.0	105.0	106.0					8																	95538842		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538842C>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1630G>C	8.37:g.95538842C>G	ENSP00000297591:p.Val544Leu					KIAA1429_uc003ygp.2_Missense_Mutation_p.V544L|KIAA1429_uc010maz.1_RNA	p.V544L	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1643	-	Breast(36;3.29e-05)		544					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1630G>C	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159724	0.78226	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.52526	0.68;0.68;0.66	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	L	0.36672	1.1	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.73380	0.98;0.98	T	0.60214	-0.7307	10	0.51188	T	0.08	-11.3615	19.9731	0.97292	0.0:1.0:0.0:0.0	.	544;544	Q69YN4-4;Q69YN4	.;VIR_HUMAN	L	544	ENSP00000297591:V544L;ENSP00000395600:V544L;ENSP00000398390:V544L	ENSP00000297591:V544L	V	-	1	0	KIAA1429	95608018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.342000	0.65970	2.715000	0.92844	0.563000	0.77884	GTG		PASS	0.378	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		15	154	15	154	---	---	---	---
INTS8	55656	broad.mit.edu	37	8	95848775	95848775	+	Silent	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:95848775A>T	ENST00000523731.1	+	7	910	c.777A>T	c.(775-777)gcA>gcT	p.A259A	INTS8_ENST00000447247.1_Silent_p.A259A	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	259					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.A259A(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TGGGCGCAGCATACTTCCAGC	0.373																																						uc003yhb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(775-777)GCA>GCT		integrator complex subunit 8							112.0	108.0	109.0					8																	95848775		2203	4300	6503	SO:0001819	synonymous_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95848775A>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.777A>T	8.37:g.95848775A>T						INTS8_uc003yha.1_Silent_p.A259A|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.A86A	p.A259A	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			7	903	+	Breast(36;1.05e-06)		259			TPR 1.		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	c.777A>T	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.706999	0.30232	.	.	ENSG00000164941	ENST00000520526	.	.	.	5.76	-3.33	0.04958	.	.	.	.	.	T	0.48677	0.1513	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48681	-0.9014	4	.	.	.	-22.2718	6.1698	0.20410	0.2033:0.5715:0.0731:0.1522	.	.	.	.	L	81	.	.	H	+	2	0	INTS8	95917951	0.076000	0.21285	0.998000	0.56505	0.990000	0.78478	-0.551000	0.06027	0.054000	0.16065	0.397000	0.26171	CAT		PASS	0.373	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		39	57	39	57	---	---	---	---
KCNS2	3788	broad.mit.edu	37	8	99440426	99440426	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:99440426C>A	ENST00000287042.4	+	2	569	c.219C>A	c.(217-219)cgC>cgA	p.R73R	KCNS2_ENST00000521839.1_Silent_p.R73R	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	73					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R73R(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACTTCGACCGCAACCCTGAGC	0.592																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(217-219)CGC>CGA		potassium voltage-gated channel,							131.0	101.0	111.0					8																	99440426		2203	4300	6503	SO:0001819	synonymous_variant	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440426C>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.219C>A	8.37:g.99440426C>A							p.R73R	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	569	+	Breast(36;2.4e-06)		73			Cytoplasmic (Potential).		A8KAN1	Silent	SNP	ENST00000287042.4	37	c.219C>A	CCDS6279.1																																																																																				PASS	0.592	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		21	61	21	61	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100133616	100133616	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:100133616G>C	ENST00000358544.2	+	8	1260	c.1149G>C	c.(1147-1149)ttG>ttC	p.L383F	VPS13B_ENST00000355155.1_Missense_Mutation_p.L383F|VPS13B_ENST00000395996.1_Missense_Mutation_p.L383F|CTD-2340D6.1_ENST00000523226.1_RNA|VPS13B_ENST00000441350.2_Missense_Mutation_p.L383F|VPS13B_ENST00000357162.2_Missense_Mutation_p.L383F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	383					protein transport (GO:0015031)			p.L383F(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACAGACTTTGAAGGATCCTA	0.398																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(1147-1149)TTG>TTC		vacuolar protein sorting 13B isoform 5							153.0	148.0	150.0					8																	100133616		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100133616G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1149G>C	8.37:g.100133616G>C	ENSP00000351346:p.Leu383Phe					VPS13B_uc003yiw.2_Missense_Mutation_p.L383F|VPS13B_uc003yit.2_Missense_Mutation_p.L383F|VPS13B_uc003yiu.1_Missense_Mutation_p.L383F|VPS13B_uc003yis.2_Missense_Mutation_p.L383F|VPS13B_uc011lgy.1_Missense_Mutation_p.L259F	p.L383F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		8	1260	+	Breast(36;3.73e-07)		383					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1149G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383965	0.42308	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.83506	-1.16;-0.44;-0.44;-0.15;-1.73	5.66	4.78	0.61160	.	0.133396	0.37053	N	0.002267	T	0.75273	0.3827	L	0.27053	0.805	0.41268	D	0.986821	P;P;P;P;P	0.49090	0.919;0.868;0.919;0.834;0.631	P;B;P;P;B	0.48704	0.587;0.289;0.584;0.483;0.246	T	0.75892	-0.3157	10	0.59425	D	0.04	.	4.8158	0.13365	0.0755:0.1316:0.5647:0.2282	.	383;383;383;383;383	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	F	383	ENSP00000347281:L383F;ENSP00000349685:L383F;ENSP00000351346:L383F;ENSP00000379318:L383F;ENSP00000398472:L383F	ENSP00000347281:L383F	L	+	3	2	VPS13B	100202792	0.989000	0.36119	1.000000	0.80357	0.837000	0.47467	0.557000	0.23454	2.681000	0.91329	0.650000	0.86243	TTG		PASS	0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		12	80	12	80	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110523031	110523031	+	Silent	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:110523031T>A	ENST00000378402.5	+	71	11525	c.11421T>A	c.(11419-11421)gcT>gcA	p.A3807A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3807					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A3811A(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCTGGTGTGCTGGATATACAT	0.403										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(11419-11421)GCT>GCA		fibrocystin L precursor							178.0	174.0	176.0					8																	110523031		1946	4155	6101	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110523031T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11421T>A	8.37:g.110523031T>A		HNSCC(38;0.096)					p.A3807A	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		71	11525	+			3807			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.11421T>A	CCDS47911.1																																																																																				PASS	0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		58	43	58	43	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113317125	113317125	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:113317125G>A	ENST00000297405.5	-	52	8335	c.8091C>T	c.(8089-8091)atC>atT	p.I2697I	CSMD3_ENST00000343508.3_Silent_p.I2657I|CSMD3_ENST00000352409.3_Silent_p.I2627I|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2697	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I2697I(1)|p.I2657I(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						TAAAGGAATTGATGCTTGGAC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8089-8091)ATC>ATT		CUB and Sushi multiple domains 3 isoform 1							72.0	61.0	65.0					8																	113317125		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113317125G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8091C>T	8.37:g.113317125G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.I1899I|CSMD3_uc003ynt.2_Silent_p.I2657I|CSMD3_uc011lhx.1_Intron	p.I2697I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			52	8250	-			2697			Extracellular (Potential).|Sushi 16.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.8091C>T	CCDS6315.1																																																																																				PASS	0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	6	13	6	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113599332	113599332	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:113599332G>C	ENST00000297405.5	-	23	4092	c.3848C>G	c.(3847-3849)gCc>gGc	p.A1283G	CSMD3_ENST00000343508.3_Missense_Mutation_p.A1243G|CSMD3_ENST00000352409.3_Missense_Mutation_p.A1283G|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1179G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1283	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1243G(1)|p.A1283G(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						AAATGTTCTGGCTGAAATATT	0.328										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.(3847-3849)GCC>GGC		CUB and Sushi multiple domains 3 isoform 1							129.0	117.0	121.0					8																	113599332		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113599332G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3848C>G	8.37:g.113599332G>C	ENSP00000297405:p.Ala1283Gly	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.A555G|CSMD3_uc003ynt.2_Missense_Mutation_p.A1243G|CSMD3_uc011lhx.1_Missense_Mutation_p.A1179G	p.A1283G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			23	4007	-			1283			Extracellular (Potential).|CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3848C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934102	0.52866	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	4.08	4.08	0.47627	CUB (5);	0.000000	0.64402	D	0.000001	T	0.54464	0.1860	M	0.79475	2.455	0.32904	D	0.513631	D;D;D	0.76494	0.982;0.999;0.998	P;D;D	0.69654	0.714;0.965;0.96	T	0.64466	-0.6401	10	0.30078	T	0.28	.	16.8146	0.85730	0.0:0.0:1.0:0.0	.	1179;1283;1243	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	G	1243;1283;623;1179;1283	ENSP00000345799:A1243G;ENSP00000297405:A1283G;ENSP00000341558:A623G;ENSP00000412263:A1179G;ENSP00000343124:A1283G	ENSP00000297405:A1283G	A	-	2	0	CSMD3	113668508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.481000	0.73608	2.267000	0.75376	0.591000	0.81541	GCC		PASS	0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		24	28	24	28	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122641427	122641427	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:122641427A>T	ENST00000303924.4	-	2	691	c.154T>A	c.(154-156)Ttt>Att	p.F52I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	52					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.F52I(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATGCCAAAAAGGCACCATAC	0.408																																						uc003yph.2																		HAS2/PLAG1(10)	1	Substitution - Missense(1)		lung(1)	soft_tissue(10)|ovary(5)	15						c.(154-156)TTT>ATT		hyaluronan synthase 2							146.0	146.0	146.0					8																	122641427		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641427A>T	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.154T>A	8.37:g.122641427A>T	ENSP00000306991:p.Phe52Ile						p.F52I	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	692	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		52			Helical; Name=2; (Potential).		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.154T>A	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	A	2.392	-0.339571	0.05243	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.42513	0.97	6.17	6.17	0.99709	.	0.042693	0.85682	D	0.000000	T	0.15869	0.0382	N	0.02412	-0.56	0.41755	D	0.989687	B	0.02656	0.0	B	0.01281	0.0	T	0.21415	-1.0246	10	0.02654	T	1	-24.4396	10.1845	0.42988	0.7566:0.0:0.0:0.2434	.	52	Q92819	HAS2_HUMAN	I	52	ENSP00000306991:F52I	ENSP00000306991:F52I	F	-	1	0	HAS2	122710608	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	5.427000	0.66483	2.371000	0.80710	0.533000	0.62120	TTT		PASS	0.408	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		50	62	50	62	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125058105	125058105	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:125058105C>A	ENST00000522917.1	+	21	2893	c.2687C>A	c.(2686-2688)cCc>cAc	p.P896H	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P896H|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	896	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.P896H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGTCCCCGCCCTTAGTGGTG	0.552																																						uc003yqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2686-2688)CCC>CAC		fer-1-like 6							148.0	156.0	153.0					8																	125058105		1992	4164	6156	SO:0001583	missense	654463					integral to membrane		g.chr8:125058105C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2687C>A	8.37:g.125058105C>A	ENSP00000428280:p.Pro896His						p.P896H	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		21	2893	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		896			Cytoplasmic (Potential).|C2 3.			Missense_Mutation	SNP	ENST00000522917.1	37	c.2687C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177167	0.78564	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.68025	-0.3;-0.3	5.52	4.63	0.57726	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.81650	0.4867	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84531	0.0633	10	0.87932	D	0	.	14.9112	0.70758	0.1447:0.8553:0.0:0.0	.	896	Q2WGJ9	FR1L6_HUMAN	H	896	ENSP00000428280:P896H;ENSP00000381982:P896H	ENSP00000381982:P896H	P	+	2	0	FER1L6	125127286	1.000000	0.71417	0.166000	0.22797	0.822000	0.46500	7.448000	0.80631	1.446000	0.47643	0.655000	0.94253	CCC		PASS	0.552	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		20	153	20	153	---	---	---	---
TMEM71	137835	broad.mit.edu	37	8	133740110	133740110	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:133740110T>A	ENST00000356838.3	-	6	695	c.553A>T	c.(553-555)Agc>Tgc	p.S185C	TMEM71_ENST00000523829.1_Missense_Mutation_p.S204C|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	204						integral component of membrane (GO:0016021)		p.S185C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGAGACAAGCTATGGGAGTTT	0.473																																						uc003ytp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(607-609)AGC>TGC		transmembrane protein 71 isoform 1							137.0	132.0	133.0					8																	133740110		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133740110T>A	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.553A>T	8.37:g.133740110T>A	ENSP00000349296:p.Ser185Cys					TMEM71_uc003ytm.1_Missense_Mutation_p.S25C|TMEM71_uc003ytn.2_Missense_Mutation_p.S185C|TMEM71_uc003yto.2_Intron	p.S203C	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		6	836	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		204					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.607A>T	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066106	0.36470	.	.	ENSG00000165071	ENST00000523829;ENST00000356838	.	.	.	6.02	-4.06	0.03986	.	1.477850	0.03818	N	0.267078	T	0.31638	0.0803	L	0.36672	1.1	0.09310	N	1	P;P	0.39696	0.683;0.683	B;B	0.42653	0.394;0.28	T	0.40739	-0.9547	9	0.54805	T	0.06	0.5566	7.7338	0.28802	0.0:0.5278:0.1027:0.3695	.	204;185	Q6P5X7;Q6P5X7-2	TMM71_HUMAN;.	C	204;185	.	ENSP00000349296:S185C	S	-	1	0	TMEM71	133809292	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.827000	0.01704	-1.001000	0.03434	-0.271000	0.10264	AGC		PASS	0.473	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		33	64	33	64	---	---	---	---
TG	7038	broad.mit.edu	37	8	133900481	133900481	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:133900481G>C	ENST00000220616.4	+	10	2469	c.2429G>C	c.(2428-2430)aGa>aCa	p.R810T	TG_ENST00000377869.1_Missense_Mutation_p.R810T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	810	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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.R810T(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)		ATGAGCTACAGAGAAGCAGCT	0.517																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(2428-2430)AGA>ACA		thyroglobulin precursor							74.0	69.0	71.0					8																	133900481		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900481G>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.2429G>C	8.37:g.133900481G>C	ENSP00000220616:p.Arg810Thr						p.R810T	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2470	+	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)	810			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.2429G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998673	0.35226	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.65178	-0.14;-0.14	5.8	2.01	0.26516	Thyroglobulin type-1 (2);	0.709113	0.13956	N	0.351198	T	0.53867	0.1823	M	0.63428	1.95	0.09310	N	1	P	0.38922	0.651	B	0.32677	0.15	T	0.47898	-0.9081	10	0.87932	D	0	.	8.7828	0.34802	0.4516:0.0:0.5484:0.0	.	810	P01266	THYG_HUMAN	T	810	ENSP00000367100:R810T;ENSP00000220616:R810T	ENSP00000220616:R810T	R	+	2	0	TG	133969663	0.886000	0.30341	0.011000	0.14972	0.895000	0.52256	0.608000	0.24223	0.379000	0.24794	0.650000	0.86243	AGA		PASS	0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	25	8	25	---	---	---	---
TG	7038	broad.mit.edu	37	8	133905937	133905937	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:133905937C>A	ENST00000220616.4	+	11	2804	c.2764C>A	c.(2764-2766)Cct>Act	p.P922T	TG_ENST00000377869.1_Missense_Mutation_p.P922T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	922	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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.P922T(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)		TCCCCTAGGTCCTGGCTCCTG	0.512																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(2764-2766)CCT>ACT		thyroglobulin precursor							129.0	100.0	110.0					8																	133905937		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133905937C>A	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.2764C>A	8.37:g.133905937C>A	ENSP00000220616:p.Pro922Thr						p.P922T	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	11	2805	+	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)	922			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.2764C>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	c	17.70	3.453124	0.63290	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.64260	-0.09;-0.09	5.14	5.14	0.70334	Thyroglobulin type-1 (2);	0.000000	0.64402	D	0.000014	T	0.60805	0.2297	L	0.49126	1.545	0.43364	D	0.995441	P	0.41366	0.747	B	0.40375	0.327	T	0.67337	-0.5696	10	0.87932	D	0	.	17.2206	0.86956	0.0:1.0:0.0:0.0	.	922	P01266	THYG_HUMAN	T	922	ENSP00000367100:P922T;ENSP00000220616:P922T	ENSP00000220616:P922T	P	+	1	0	TG	133975119	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	3.799000	0.55529	2.409000	0.81822	0.380000	0.24917	CCT		PASS	0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		7	46	7	46	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139696707	139696707	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:139696707G>C	ENST00000303045.6	-	39	3419	c.2973C>G	c.(2971-2973)ctC>ctG	p.L991L	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.L991L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	991	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L991L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTGATCCACGGAGTCCCTGGA	0.532										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(2971-2973)CTC>CTG		collagen, type XXII, alpha 1							101.0	104.0	103.0					8																	139696707		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139696707G>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2973C>G	8.37:g.139696707G>C		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Silent_p.L291L	p.L991L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		39	3420	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		991			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.2973C>G	CCDS6376.1																																																																																				PASS	0.532	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		24	32	24	32	---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142146830	142146830	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:142146830G>C	ENST00000262585.2	+	2	363	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	DENND3_ENST00000519811.1_Missense_Mutation_p.E109Q|DENND3_ENST00000424248.1_Missense_Mutation_p.E29Q|DENND3_ENST00000518347.1_Missense_Mutation_p.E109Q	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	29	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E29Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGAGCCTGAGGATGTCGC	0.662																																						uc003yvy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(85-87)GAG>CAG		DENN/MADD domain containing 3							15.0	19.0	18.0					8																	142146830		2199	4296	6495	SO:0001583	missense	22898							g.chr8:142146830G>C	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.85G>C	8.37:g.142146830G>C	ENSP00000262585:p.Glu29Gln					DENND3_uc003yvw.1_Missense_Mutation_p.E42Q|DENND3_uc003yvx.2_Missense_Mutation_p.E109Q|DENND3_uc010mep.2_Missense_Mutation_p.E42Q	p.E29Q	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		2	363	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		29			UDENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.85G>C	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.35|16.35	3.099387|3.099387	0.56183|0.56183	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058|ENST00000518668	T;T;T;T;T;T;T|.	0.47869|.	0.83;0.83;0.83;0.83;0.83;0.83;0.83|.	5.61|5.61	5.61|5.61	0.85477|0.85477	uDENN (1);|.	0.046847|.	0.85682|.	D|.	0.000000|.	T|.	0.77184|.	0.4093|.	M|M	0.74258|0.74258	2.255|2.255	0.47949|0.47949	D|D	0.999552|0.999552	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.997;0.996;0.989;0.998|.	T|.	0.75988|.	-0.3123|.	10|.	0.72032|.	D|.	0.01|.	-16.4545|-16.4545	19.228|19.228	0.93825|0.93825	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	109;29;109;109|.	E9PF32;A2RUS2;E5RHH2;E5RIR7|.	.;DEND3_HUMAN;.;.|.	Q|S	42;109;29;29;109;109;109|85	ENSP00000430625:E42Q;ENSP00000430695:E109Q;ENSP00000262585:E29Q;ENSP00000410594:E29Q;ENSP00000428714:E109Q;ENSP00000429780:E109Q;ENSP00000430786:E109Q|.	ENSP00000262585:E29Q|.	E|X	+|+	1|2	0|2	DENND3|DENND3	142216012|142216012	1.000000|1.000000	0.71417|0.71417	0.067000|0.067000	0.19924|0.19924	0.007000|0.007000	0.05969|0.05969	7.704000|7.704000	0.84595|0.84595	2.637000|2.637000	0.89404|0.89404	0.650000|0.650000	0.86243|0.86243	GAG|TGA		PASS	0.662	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		3	4	3	4	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143570401	143570401	+	Missense_Mutation	SNP	G	G	A	rs368988728		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:143570401G>A	ENST00000517894.1	+	15	3352	c.2458G>A	c.(2458-2460)Gat>Aat	p.D820N	BAI1_ENST00000323289.5_Missense_Mutation_p.D820N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	820					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D820N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCAGAGGCCGATGAAGCATC	0.662																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(2458-2460)GAT>AAT		brain-specific angiogenesis inhibitor 1		G	ASN/ASP	0,4002		0,0,2001	52.0	52.0	52.0		2458	4.9	0.2	8		52	1,8303		0,1,4151	no	missense	BAI1	NM_001702.2	23	0,1,6152	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	820/1585	143570401	1,12305	2001	4152	6153	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143570401G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2458G>A	8.37:g.143570401G>A	ENSP00000430945:p.Asp820Asn						p.D820N	NM_001702	NP_001693	O14514	BAI1_HUMAN			14	2641	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		820			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517894.1	37	c.2458G>A		.	.	.	.	.	.	.	.	.	.	G	15.86	2.956384	0.53293	0.0	1.2E-4	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.27557	1.66;1.66	4.94	4.94	0.65067	.	0.136940	0.45606	U	0.000342	T	0.54367	0.1854	M	0.69823	2.125	0.52099	D	0.999941	D	0.89917	1.0	D	0.70227	0.968	T	0.58934	-0.7548	10	0.72032	D	0.01	.	15.6436	0.77029	0.0:0.0:1.0:0.0	.	820	E9PBK0	.	N	820	ENSP00000430945:D820N;ENSP00000313046:D820N	ENSP00000313046:D820N	D	+	1	0	BAI1	143567403	1.000000	0.71417	0.202000	0.23494	0.139000	0.21198	8.535000	0.90623	2.269000	0.75478	0.462000	0.41574	GAT		PASS	0.662	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		11	12	11	12	---	---	---	---
GLI4	2738	broad.mit.edu	37	8	144358654	144358654	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:144358654G>A	ENST00000523522.1	+	3	850	c.811G>A	c.(811-813)Gag>Aag	p.E271K	GLI4_ENST00000340042.1_Missense_Mutation_p.E271K|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	271					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E271K(1)		endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CAAGTGCGGCGAGTGCGGCCA	0.682																																						uc003yxx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(811-813)GAG>AAG		GLI-Kruppel family member GLI4							33.0	35.0	34.0					8																	144358654		2203	4298	6501	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358654G>A		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.811G>A	8.37:g.144358654G>A	ENSP00000430987:p.Glu271Lys					ZFP41_uc003yxv.2_RNA	p.E271K	NM_138465	NP_612474	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	896	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		271			C2H2-type 4.		Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.811G>A	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890716	0.72524	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.07327	3.2;3.2	3.81	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15305	0.0369	N	0.25201	0.72	0.21697	N	0.999587	D	0.89917	1.0	D	0.73380	0.98	T	0.11494	-1.0585	9	0.72032	D	0.01	.	11.1126	0.48241	0.0:0.1881:0.8119:0.0	.	271	P10075	GLI4_HUMAN	K	271	ENSP00000345024:E271K;ENSP00000430987:E271K	ENSP00000345024:E271K	E	+	1	0	GLI4	144430029	0.849000	0.29639	1.000000	0.80357	0.574000	0.36063	1.140000	0.31516	1.958000	0.56883	0.558000	0.71614	GAG		PASS	0.682	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			17	39	17	39	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144892670	144892670	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:144892670C>G	ENST00000320476.3	-	13	1515	c.1509G>C	c.(1507-1509)ggG>ggC	p.G503G	SCRIB_ENST00000356994.2_Silent_p.G503G|SCRIB_ENST00000377533.3_Silent_p.G422G|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	503	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.G503G(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAAGGGCGACCCAGAGTCTG	0.697																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(1507-1509)GGG>GGC		scribble isoform b							51.0	55.0	54.0					8																	144892670		2203	4298	6501	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144892670C>G	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1509G>C	8.37:g.144892670C>G						SCRIB_uc003yzo.1_Silent_p.G503G	p.G503G	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		13	1516	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		503			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.1509G>C	CCDS6411.1																																																																																				PASS	0.697	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	38	5	38	---	---	---	---
PPAPDC2	403313	broad.mit.edu	37	9	4663258	4663258	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:4663258C>G	ENST00000381883.2	+	1	961	c.883C>G	c.(883-885)Cga>Gga	p.R295G	SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	295						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.R295G(1)		endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GTGGAGTCAACGATGACACCA	0.483																																					Melanoma(187;1057 3809 8526)	uc003zin.2																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)CGA>GGA		phosphatidic acid phosphatase type 2 domain							136.0	127.0	130.0					9																	4663258		2203	4300	6503	SO:0001583	missense	403313					integral to membrane	hydrolase activity	g.chr9:4663258C>G	AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"""polyisoprenoid diphosphate phosphatase type 1"""	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.883C>G	9.37:g.4663258C>G	ENSP00000371307:p.Arg295Gly					C9orf68_uc003zik.2_Intron|C9orf68_uc003zil.2_Intron|C9orf68_uc010mhj.2_Intron|C9orf68_uc011lly.1_Intron|C9orf68_uc011llz.1_Intron|C9orf68_uc003zim.2_Intron	p.R295G	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN		GBM - Glioblastoma multiforme(50;0.026)	1	961	+	all_hematologic(13;0.137)	Breast(48;0.238)	295					B3KY05|Q5JVJ6|Q8NCK9	Missense_Mutation	SNP	ENST00000381883.2	37	c.883C>G	CCDS34981.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990958	0.18966	.	.	ENSG00000205808	ENST00000381883;ENST00000537542	T	0.14893	2.47	5.55	3.63	0.41609	.	1.680420	0.03896	U	0.279564	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.14392	-1.0474	10	0.56958	D	0.05	.	5.6827	0.17784	0.0:0.6678:0.1623:0.1699	.	295	Q8IY26	PPAC2_HUMAN	G	295;204	ENSP00000371307:R295G	ENSP00000371307:R295G	R	+	1	2	PPAPDC2	4653258	0.011000	0.17503	0.732000	0.30844	0.387000	0.30353	1.271000	0.33098	1.571000	0.49722	0.655000	0.94253	CGA		PASS	0.483	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		35	51	35	51	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14842506	14842506	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:14842506G>A	ENST00000380880.3	-	9	2329	c.1546C>T	c.(1546-1548)Ccc>Tcc	p.P516S	FREM1_ENST00000380881.4_Missense_Mutation_p.P517S|FREM1_ENST00000422223.2_Missense_Mutation_p.P516S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	516					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.P517S(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATCTTTGGGCAAGACGTTG	0.502																																						uc003zlm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1546-1548)CCC>TCC		FRAS1 related extracellular matrix 1 precursor							143.0	143.0	143.0					9																	14842506		2034	4193	6227	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842506G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1546C>T	9.37:g.14842506G>A	ENSP00000370262:p.Pro516Ser					FREM1_uc010mic.2_RNA	p.P516S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	9	2136	-			516			CSPG 3.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1546C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	33	5.194459	0.94960	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.37584	1.19;1.19;1.19	5.93	5.93	0.95920	.	0.050953	0.85682	D	0.000000	T	0.72326	0.3446	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78453	-0.2198	10	0.72032	D	0.01	-13.891	20.3539	0.98825	0.0:0.0:1.0:0.0	.	516	Q5H8C1	FREM1_HUMAN	S	517;516;516	ENSP00000370263:P517S;ENSP00000412940:P516S;ENSP00000370262:P516S	ENSP00000370257:P519S	P	-	1	0	FREM1	14832506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CCC		PASS	0.502	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		40	58	40	58	---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18928832	18928832	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:18928832G>C	ENST00000380534.4	-	4	922	c.643C>G	c.(643-645)Ccc>Gcc	p.P215A	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.P23A	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	215								p.P215A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TTCTCCACGGGGTGGGCCACA	0.502																																						uc003zni.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(643-645)CCC>GCC		hypothetical protein LOC158297							103.0	105.0	104.0					9																	18928832		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928832G>C	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.643C>G	9.37:g.18928832G>C	ENSP00000369907:p.Pro215Ala					FAM154A_uc010mip.1_Missense_Mutation_p.P23A	p.P215A	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	921	-			215					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.643C>G	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277296	0.59758	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.20598	2.06;2.06	5.09	5.09	0.68999	.	0.000000	0.56097	D	0.000027	T	0.40015	0.1100	L	0.58669	1.825	0.36233	D	0.852761	D	0.89917	1.0	D	0.80764	0.994	T	0.33624	-0.9861	10	0.31617	T	0.26	-13.0431	13.025	0.58810	0.0:0.1621:0.8379:0.0	.	215	Q8IYX7	F154A_HUMAN	A	215;23	ENSP00000369907:P215A;ENSP00000438823:P23A	ENSP00000369907:P215A	P	-	1	0	FAM154A	18918832	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.906000	0.56340	2.640000	0.89533	0.650000	0.86243	CCC		PASS	0.502	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		24	32	24	32	---	---	---	---
DNAJB5	25822	broad.mit.edu	37	9	34996700	34996700	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:34996700G>A	ENST00000541010.1	+	2	3662	c.650G>A	c.(649-651)cGt>cAt	p.R217H	DNAJB5_ENST00000545841.1_Missense_Mutation_p.R217H|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R251H|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R289H|DNAJB5_ENST00000312316.5_Missense_Mutation_p.R217H|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R331H			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	217					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)	p.R217H(1)|p.R331H(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GTCATCAAGCGTGGCTGGAAG	0.562																																						uc003zvt.2																			2	Substitution - Missense(2)		lung(2)		0						c.(649-651)CGT>CAT		DnaJ (Hsp40) homolog, subfamily B, member 5							70.0	62.0	65.0					9																	34996700		2203	4300	6503	SO:0001583	missense	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34996700G>A	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.650G>A	9.37:g.34996700G>A	ENSP00000443151:p.Arg217His					DNAJB5_uc003zvs.2_Missense_Mutation_p.R251H|DNAJB5_uc011los.1_Missense_Mutation_p.R289H	p.R217H	NM_012266	NP_036398	O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	788	+			217					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	ENST00000541010.1	37	c.650G>A	CCDS35007.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817119	0.70912	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.14	3.28	0.37604	HSP40/DnaJ peptide-binding (1);	0.207353	0.48767	D	0.000172	D	0.87605	0.6219	M	0.80847	2.515	0.37136	D	0.901504	D;P	0.64830	0.994;0.932	P;P	0.53006	0.715;0.608	D	0.88070	0.2800	10	0.87932	D	0	.	6.4582	0.21942	0.1583:0.1507:0.6911:0.0	.	289;217	B4DSA6;O75953	.;DNJB5_HUMAN	H	331;251;217;217;217;289;217	ENSP00000404079:R331H;ENSP00000337626:R251H;ENSP00000312517:R217H;ENSP00000443151:R217H;ENSP00000413684:R289H;ENSP00000441999:R217H	ENSP00000312517:R217H	R	+	2	0	DNAJB5	34986700	1.000000	0.71417	0.910000	0.35882	0.978000	0.69477	5.401000	0.66326	0.744000	0.32741	0.555000	0.69702	CGT		PASS	0.562	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			12	35	12	35	---	---	---	---
FAM214B	80256	broad.mit.edu	37	9	35108045	35108045	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:35108045G>A	ENST00000378561.1	-	2	3282	c.227C>T	c.(226-228)cCc>cTc	p.P76L	FAM214B_ENST00000378554.2_Missense_Mutation_p.P76L|FAM214B_ENST00000605244.1_Missense_Mutation_p.P76L|FAM214B_ENST00000603301.1_Missense_Mutation_p.P76L|FAM214B_ENST00000378557.1_Missense_Mutation_p.P76L|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.P76L|FAM214B_ENST00000488109.2_Missense_Mutation_p.P76L			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	76						nucleus (GO:0005634)		p.P76L(1)									CAGCTCCCGGGGACCCTCAGT	0.637																																						uc003zwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(226-228)CCC>CTC		hypothetical protein LOC80256							28.0	30.0	29.0					9																	35108045		2200	4286	6486	SO:0001583	missense	80256					nucleus		g.chr9:35108045G>A	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.227C>T	9.37:g.35108045G>A	ENSP00000367823:p.Pro76Leu					KIAA1539_uc003zwm.2_Missense_Mutation_p.P76L|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.P76L|KIAA1539_uc003zwp.1_Missense_Mutation_p.P76L|KIAA1539_uc010mkk.1_Intron	p.P76L	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	552	-	all_epithelial(49;0.217)		76					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.227C>T	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635469	0.29068	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.71	3.73	0.42828	.	0.620198	0.15841	N	0.242004	T	0.42200	0.1192	L	0.48642	1.525	0.32107	N	0.589866	B	0.20368	0.044	B	0.15484	0.013	T	0.49960	-0.8883	9	0.54805	T	0.06	-3.8987	6.4886	0.22103	0.1478:0.2833:0.5689:0.0	.	76	Q7L5A3	K1539_HUMAN	L	76	.	ENSP00000319897:P76L	P	-	2	0	KIAA1539	35098045	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.161000	0.42358	2.455000	0.83008	0.555000	0.69702	CCC		PASS	0.637	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		5	35	5	35	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77455096	77455096	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:77455096C>T	ENST00000360774.1	-	5	625	c.388G>A	c.(388-390)Gag>Aag	p.E130K	TRPM6_ENST00000449912.2_Missense_Mutation_p.E125K|TRPM6_ENST00000359047.2_Missense_Mutation_p.E130K|TRPM6_ENST00000376871.3_Missense_Mutation_p.E130K|TRPM6_ENST00000376872.3_Missense_Mutation_p.E130K|TRPM6_ENST00000451710.3_Missense_Mutation_p.E130K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E130K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E125K	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	130					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E130K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTTTCCACTCTTTCAACATT	0.363																																						uc004ajl.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(388-390)GAG>AAG		transient receptor potential cation channel,							102.0	96.0	98.0					9																	77455096		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77455096C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.388G>A	9.37:g.77455096C>T	ENSP00000354006:p.Glu130Lys					TRPM6_uc004ajk.1_Missense_Mutation_p.E125K|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.E130K|TRPM6_uc010mpd.1_Missense_Mutation_p.E130K|TRPM6_uc010mpe.1_Missense_Mutation_p.E130K|TRPM6_uc004ajn.1_Missense_Mutation_p.E130K	p.E130K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			5	626	-			130			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.388G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578190	0.96565	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.989;0.998	D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.987;0.945;0.941	T	0.78339	-0.2242	10	0.66056	D	0.02	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	130;130;130;130;130;125	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	K	130;130;130;130;125;125;129;130;130	ENSP00000354006:E130K;ENSP00000407341:E130K;ENSP00000366068:E130K;ENSP00000366067:E130K;ENSP00000396672:E125K;ENSP00000354962:E125K;ENSP00000366060:E130K;ENSP00000351942:E130K	ENSP00000351942:E130K	E	-	1	0	TRPM6	76644916	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.776000	0.95493	0.655000	0.94253	GAG		PASS	0.363	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		19	17	19	17	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78686749	78686749	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:78686749G>T	ENST00000545128.1	+	7	1367	c.829G>T	c.(829-831)Gat>Tat	p.D277Y	PCSK5_ENST00000376767.3_Missense_Mutation_p.D277Y|PCSK5_ENST00000376752.4_Missense_Mutation_p.D277Y	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	277	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.D277Y(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCGGATGATGATGGCAAGAC	0.532																																						uc004ajz.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(1)	3						c.(829-831)GAT>TAT		proprotein convertase subtilisin/kexin type 5							137.0	143.0	141.0					9																	78686749		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686749G>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.829G>T	9.37:g.78686749G>T	ENSP00000446280:p.Asp277Tyr					PCSK5_uc004ajy.2_Missense_Mutation_p.D277Y|PCSK5_uc004aka.2_RNA	p.D277Y	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			7	1367	+			277			Catalytic.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.829G>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896392	0.91962	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.81821	-1.54;-1.54;-1.54	5.66	5.66	0.87406	.	.	.	.	.	D	0.92583	0.7644	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93755	0.7062	9	0.87932	D	0	.	19.7365	0.96208	0.0:0.0:1.0:0.0	.	277;277	Q92824-2;B1AMG5	.;.	Y	277	ENSP00000446280:D277Y;ENSP00000365958:D277Y;ENSP00000365943:D277Y	ENSP00000365943:D277Y	D	+	1	0	PCSK5	77876569	1.000000	0.71417	0.870000	0.34147	0.962000	0.63368	9.102000	0.94226	2.672000	0.90937	0.655000	0.94253	GAT		PASS	0.532	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				22	98	22	98	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79322998	79322998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:79322998C>A	ENST00000376718.3	-	8	4315	c.4192G>T	c.(4192-4194)Gag>Tag	p.E1398*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.E1039*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1398					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.E1398*(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAAACTTCCTCTGGTTCCTCG	0.458																																						uc010mpk.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(4192-4194)GAG>TAG		prune homolog 2							66.0	60.0	62.0					9																	79322998		1568	3582	5150	SO:0001587	stop_gained	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322998C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4192G>T	9.37:g.79322998C>A	ENSP00000365908:p.Glu1398*						p.E1398*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	4316	-			1398					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	ENST00000376718.3	37	c.4192G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.410384|7.410384	0.98265|0.98265	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	.|.	.|.	.|.	5.49|5.49	-1.35|-1.35	0.09114|0.09114	.|.	0.455803|.	0.18439|.	N|.	0.141193|.	.|T	.|0.21307	.|0.0513	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27123	.|-1.0083	.|4	0.54805|.	T|.	0.06|.	3.5668|3.5668	3.2805|3.2805	0.06913|0.06913	0.1799:0.1896:0.4703:0.1602|0.1799:0.1896:0.4703:0.1602	.|.	.|.	.|.	.|.	X|I	1398;1039;1397|719	.|.	ENSP00000365908:E1398X|.	E|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78512818|78512818	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.643000|0.643000	0.38383|0.38383	-0.019000|-0.019000	0.12546|0.12546	-0.127000|-0.127000	0.11661|0.11661	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.458	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		17	21	17	21	---	---	---	---
CEP78	84131	broad.mit.edu	37	9	80856685	80856685	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:80856685G>A	ENST00000424347.2	+	4	862	c.573G>A	c.(571-573)caG>caA	p.Q191Q	CEP78_ENST00000376597.4_Silent_p.Q191Q|CEP78_ENST00000376598.2_Silent_p.Q191Q|CEP78_ENST00000415759.2_Silent_p.Q191Q|CEP78_ENST00000277082.5_Silent_p.Q191Q			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	191					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.Q191Q(2)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TGACATGGCAGGGAGCAGATC	0.343																																						uc004akx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(571-573)CAG>CAA		centrosomal protein 78kDa isoform b							121.0	119.0	120.0					9																	80856685		1923	4132	6055	SO:0001819	synonymous_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80856685G>A	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.573G>A	9.37:g.80856685G>A						CEP78_uc004aky.3_Silent_p.Q191Q|CEP78_uc010mpp.2_Silent_p.Q191Q|CEP78_uc011lsp.1_Silent_p.Q104Q	p.Q191Q	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN			4	849	+			191					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	37	c.573G>A																																																																																					PASS	0.343	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		8	54	8	54	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84607342	84607342	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:84607342C>G	ENST00000344803.2	+	4	2004	c.1957C>G	c.(1957-1959)Cca>Gca	p.P653A		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	653					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P653A(2)									CTTTTGTCCTCCAGCTCCCAA	0.463																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1957-1959)CCA>GCA		hypothetical protein LOC389763							90.0	91.0	90.0					9																	84607342		1850	4096	5946	SO:0001583	missense	389763					integral to membrane		g.chr9:84607342C>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1957C>G	9.37:g.84607342C>G	ENSP00000341988:p.Pro653Ala						p.P653A	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2004	+			653						Missense_Mutation	SNP	ENST00000344803.2	37	c.1957C>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638482	0.29157	.	.	ENSG00000214929	ENST00000344803	T	0.06849	3.25	3.5	-2.74	0.05932	.	0.934561	0.08932	N	0.872939	T	0.11965	0.0291	L	0.55481	1.735	0.09310	N	1	P	0.44877	0.845	P	0.52758	0.708	T	0.22417	-1.0217	10	0.07030	T	0.85	-5.0366	8.2462	0.31691	0.0:0.4171:0.0:0.5829	.	653	Q6ZQQ2	F75D1_HUMAN	A	653	ENSP00000341988:P653A	ENSP00000341988:P653A	P	+	1	0	FAM75D1	83797162	0.001000	0.12720	0.201000	0.23476	0.557000	0.35523	-0.146000	0.10250	-0.486000	0.06744	0.655000	0.94253	CCA		PASS	0.463	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		22	43	22	43	---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88203362	88203362	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:88203362C>A	ENST00000357081.3	-	21	2898	c.2754G>T	c.(2752-2754)cgG>cgT	p.R918R	AGTPBP1_ENST00000376083.3_Silent_p.R878R|AGTPBP1_ENST00000376109.3_Silent_p.R930R|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	918					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R878R(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CAGGATGTACCCGAGCAGACA	0.378																																						uc011ltd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(2752-2754)CGG>CGT		ATP/GTP binding protein 1							103.0	87.0	93.0					9																	88203362		2202	4300	6502	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88203362C>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2754G>T	9.37:g.88203362C>A						AGTPBP1_uc004aod.3_Silent_p.R544R|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Silent_p.R878R|AGTPBP1_uc011lte.1_Silent_p.R930R	p.R918R	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			20	2787	-			918					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.2754G>T																																																																																					PASS	0.378	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		14	24	14	24	---	---	---	---
ASPN	54829	broad.mit.edu	37	9	95219630	95219630	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:95219630A>G	ENST00000375544.3	-	8	1326	c.1083T>C	c.(1081-1083)ccT>ccC	p.P361P	ASPN_ENST00000375543.1_3'UTR|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	361					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.P361P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GAAATGTTGCAGGTTGCATTT	0.353																																						uc004ase.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1081-1083)CCT>CCC		asporin precursor							117.0	112.0	113.0					9																	95219630		2203	4300	6503	SO:0001819	synonymous_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95219630A>G	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.1083T>C	9.37:g.95219630A>G						CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_3'UTR	p.P361P	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN			8	1327	-			361			LRR 11.		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	37	c.1083T>C																																																																																					PASS	0.353	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		12	34	12	34	---	---	---	---
FAM120AOS	158293	broad.mit.edu	37	9	96212824	96212824	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:96212824G>A	ENST00000375412.5	-	2	1503	c.621C>T	c.(619-621)ccC>ccT	p.P207P	FAM120A_ENST00000277165.6_5'Flank|FAM120AOS_ENST00000423591.1_Silent_p.P25P|FAM120AOS_ENST00000479094.1_5'UTR|FAM120A_ENST00000375389.3_5'Flank|FAM120A_ENST00000333936.5_5'Flank|FAM120A_ENST00000340893.4_5'Flank	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	207								p.P207P(1)		kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						TCCATGTGCTGGGCAGCAGCT	0.507																																						uc004atu.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(619-621)CCC>CCT		hypothetical protein LOC158293							67.0	72.0	70.0					9																	96212824		2203	4300	6503	SO:0001819	synonymous_variant	158293							g.chr9:96212824G>A	AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.621C>T	9.37:g.96212824G>A						FAM120AOS_uc004atm.2_RNA|FAM120AOS_uc004atn.3_RNA|FAM120AOS_uc004ato.3_RNA|FAM120AOS_uc004atp.3_RNA|FAM120AOS_uc004atq.3_RNA|FAM120AOS_uc004atr.3_RNA|FAM120AOS_uc004ats.3_RNA|FAM120AOS_uc004att.3_RNA|FAM120A_uc004atv.2_5'Flank|FAM120A_uc004atw.2_5'Flank	p.P207P	NM_198841	NP_942138	Q5T036	F120S_HUMAN			2	1504	-			207					A6NN20	Silent	SNP	ENST00000375412.5	37	c.621C>T	CCDS6705.1																																																																																				PASS	0.507	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1			9	34	9	34	---	---	---	---
HABP4	22927	broad.mit.edu	37	9	99228025	99228025	+	Silent	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:99228025T>C	ENST00000375249.4	+	4	783	c.708T>C	c.(706-708)tgT>tgC	p.C236C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4									p.C236C(1)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				TGGGTGGATGTGGAGTTCGAA	0.453																																						uc010msg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(706-708)TGT>TGC		hyaluronan binding protein 4							128.0	127.0	127.0					9																	99228025		2203	4300	6503	SO:0001819	synonymous_variant	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99228025T>C	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.708T>C	9.37:g.99228025T>C						HABP4_uc010msh.2_Intron	p.C236C	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN			4	856	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	236						Silent	SNP	ENST00000375249.4	37	c.708T>C	CCDS6719.1																																																																																				PASS	0.453	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		4	17	4	17	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104356946	104356946	+	Intron	SNP	G	G	A	rs368922664		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:104356946G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.G89G	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.G89G(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GCTCCTCGTCGCCCTTGACGC	0.537																																						uc004bbr.2																			1	Substitution - coding silent(1)	p.G89C(1)	lung(1)	ovary(1)|skin(1)	2						c.(265-267)GGC>GGT		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						125.0	119.0	121.0					9																	104356946		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356946G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15304C>T	9.37:g.104356946G>A						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	p.G89G	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	338	-		Acute lymphoblastic leukemia(62;0.0527)	86					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.267C>T	CCDS6758.1																																																																																				PASS	0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			17	71	17	71	---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105767520	105767520	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:105767520G>T	ENST00000374798.3	+	5	677	c.607G>T	c.(607-609)Gca>Tca	p.A203S	CYLC2_ENST00000487798.1_Missense_Mutation_p.A203S	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	203	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A203S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAAAGACTCGGCAACAGAATC	0.378																																						uc004bbs.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(607-609)GCA>TCA		cylicin 2							82.0	79.0	80.0					9																	105767520		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767520G>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.607G>T	9.37:g.105767520G>T	ENSP00000420256:p.Ala203Ser						p.A203S	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			5	677	+		all_hematologic(171;0.125)	203			3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|2.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.607G>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	9.115	1.007608	0.19199	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15952	2.38;2.38	4.44	1.55	0.23275	.	0.540328	0.15791	N	0.244448	T	0.14227	0.0344	L	0.56199	1.76	0.09310	N	1	P	0.38677	0.642	B	0.35278	0.199	T	0.12116	-1.0560	10	0.48119	T	0.1	-6.2376	6.1781	0.20455	0.1792:0.1545:0.6662:0.0	.	203	Q14093	CYLC2_HUMAN	S	203	ENSP00000420256:A203S;ENSP00000417674:A203S	ENSP00000420256:A203S	A	+	1	0	CYLC2	104807341	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.143000	0.16115	0.227000	0.20999	-0.335000	0.08231	GCA		PASS	0.378	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		26	67	26	67	---	---	---	---
OR13D1	286365	broad.mit.edu	37	9	107457200	107457200	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:107457200C>A	ENST00000318763.5	+	1	541	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I166I(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GGTACTCCATCATCATGAACG	0.517																																						uc011lvs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(496-498)ATC>ATA		olfactory receptor, family 13, subfamily D,							144.0	129.0	134.0					9																	107457200		2203	4300	6503	SO:0001819	synonymous_variant	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457200C>A		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.498C>A	9.37:g.107457200C>A							p.I166I	NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN			1	498	+			166			Cytoplasmic (Potential).		B9EIS1|Q6IFL1	Silent	SNP	ENST00000318763.5	37	c.498C>A	CCDS35094.1																																																																																				PASS	0.517	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			15	53	15	53	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107576733	107576733	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:107576733C>G	ENST00000374736.3	-	26	4156	c.3762G>C	c.(3760-3762)gaG>gaC	p.E1254D		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1254					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.E1254D(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCACCCCACTCTCTTCGGCCA	0.458																																						uc004bcl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(3760-3762)GAG>GAC		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						119.0	93.0	102.0					9																	107576733		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107576733C>G	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3762G>C	9.37:g.107576733C>G	ENSP00000363868:p.Glu1254Asp						p.E1254D	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	26	4075	-			1254					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.3762G>C	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	4.819	0.152246	0.09185	.	.	ENSG00000165029	ENST00000374736	T	0.81330	-1.48	5.3	2.33	0.28932	.	0.047443	0.85682	D	0.000000	T	0.43831	0.1265	N	0.01019	-1.045	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29701	-1.0003	10	0.10377	T	0.69	.	2.4504	0.04517	0.3429:0.336:0.2299:0.0912	.	1254	O95477	ABCA1_HUMAN	D	1254	ENSP00000363868:E1254D	ENSP00000363868:E1254D	E	-	3	2	ABCA1	106616554	0.991000	0.36638	1.000000	0.80357	0.987000	0.75469	0.248000	0.18198	1.250000	0.43966	0.555000	0.69702	GAG		PASS	0.458	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		5	19	5	19	---	---	---	---
ACTL7A	10881	broad.mit.edu	37	9	111625099	111625099	+	Missense_Mutation	SNP	C	C	T	rs369003397		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:111625099C>T	ENST00000333999.3	+	1	497	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	166						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)	p.A166V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGGAGCATGCGGTCTTGGTT	0.527																																					Esophageal Squamous(177;1480 3591 17554)	uc004bdj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)GCG>GTG		actin-like 7A							97.0	93.0	95.0					9																	111625099		2203	4300	6503	SO:0001583	missense	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625099C>T	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.497C>T	9.37:g.111625099C>T	ENSP00000334300:p.Ala166Val						p.A166V	NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN			1	497	+			166					B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	c.497C>T	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600708	0.66332	.	.	ENSG00000187003	ENST00000333999	D	0.97186	-4.28	5.98	5.98	0.97165	.	0.000000	0.46145	D	0.000301	D	0.98046	0.9356	M	0.62723	1.935	0.53688	D	0.999971	D	0.89917	1.0	D	0.75020	0.985	D	0.98669	1.0687	10	0.87932	D	0	.	17.952	0.89056	0.0:1.0:0.0:0.0	.	166	Q9Y615	ACL7A_HUMAN	V	166	ENSP00000334300:A166V	ENSP00000334300:A166V	A	+	2	0	ACTL7A	110664920	1.000000	0.71417	0.683000	0.30040	0.166000	0.22503	7.772000	0.85439	2.835000	0.97688	0.650000	0.86243	GCG		PASS	0.527	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		10	27	10	27	---	---	---	---
CTNNAL1	8727	broad.mit.edu	37	9	111741743	111741743	+	Missense_Mutation	SNP	G	G	A	rs200532159		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:111741743G>A	ENST00000325551.4	-	7	1005	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R307W|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.R307W|CTNNAL1_ENST00000488130.1_5'Flank	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	307					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.R307W(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AGATTCTCCCGAAGAGCTTCA	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		19322	0.0		0.001	False		,,,				2504	0.0					uc004bdo.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(919-921)CGG>TGG		catenin, alpha-like 1							73.0	69.0	70.0					9																	111741743		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111741743G>A	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.919C>T	9.37:g.111741743G>A	ENSP00000320434:p.Arg307Trp					CTNNAL1_uc010mts.1_Missense_Mutation_p.R43W|CTNNAL1_uc010mtt.1_Missense_Mutation_p.R307W|CTNNAL1_uc004bdp.1_Missense_Mutation_p.R307W	p.R307W	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	7	961	-			307					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.919C>T	CCDS6775.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.14	3.313101	0.60414	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.32515	1.48;1.61;1.45	5.91	5.0	0.66597	.	0.366625	0.31051	N	0.008355	T	0.33527	0.0866	M	0.80183	2.485	0.80722	D	1	B;P;B;B	0.38110	0.096;0.618;0.287;0.096	B;B;B;B	0.29440	0.024;0.102;0.099;0.024	T	0.36261	-0.9755	10	0.59425	D	0.04	-0.7036	13.3461	0.60573	0.0779:0.0:0.9221:0.0	.	307;307;307;307	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	W	307	ENSP00000363723:R307W;ENSP00000320434:R307W;ENSP00000323351:R307W	ENSP00000320434:R307W	R	-	1	2	CTNNAL1	110781564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.984000	0.56923	2.793000	0.96121	0.655000	0.94253	CGG		PASS	0.418	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		4	16	4	16	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119582947	119582947	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:119582947G>T	ENST00000313400.4	-	12	2256	c.2156C>A	c.(2155-2157)aCg>aAg	p.T719K	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.T715K|ASTN2_ENST00000361209.2_Missense_Mutation_p.T668K			O75129	ASTN2_HUMAN	astrotactin 2	719	EGF-like 3.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.T668K(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGGGCAGCGTCTGCTGCAG	0.577																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(2155-2157)ACG>AAG		astrotactin 2 isoform c							102.0	93.0	96.0					9																	119582947		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119582947G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2156C>A	9.37:g.119582947G>T	ENSP00000314038:p.Thr719Lys					ASTN2_uc004bjr.1_Missense_Mutation_p.T715K|ASTN2_uc004bjt.1_Missense_Mutation_p.T668K	p.T719K	NM_198187	NP_937830	O75129	ASTN2_HUMAN			12	2257	-			719			Extracellular (Potential).|EGF-like 3.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.2156C>A		.	.	.	.	.	.	.	.	.	.	G	16.78	3.217567	0.58560	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.11495	2.95;2.95;2.77;2.96	5.78	5.78	0.91487	.	0.181068	0.50627	D	0.000109	T	0.12050	0.0293	N	0.11560	0.145	0.43724	D	0.996203	P;P;P	0.52692	0.955;0.678;0.938	P;B;P	0.54815	0.51;0.247;0.761	T	0.29579	-1.0007	9	.	.	.	-12.0597	15.1259	0.72483	0.0:0.0:0.8586:0.1414	.	668;719;715	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	K	719;715;442;668	ENSP00000314038:T719K;ENSP00000363108:T715K;ENSP00000363098:T442K;ENSP00000354504:T668K	.	T	-	2	0	ASTN2	118622768	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	5.127000	0.64727	2.894000	0.99253	0.655000	0.94253	ACG		PASS	0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	30	7	30	---	---	---	---
FAM129B	64855	broad.mit.edu	37	9	130279211	130279211	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:130279211C>A	ENST00000373312.3	-	8	1111	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.A287S	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	300					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A300S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCCTGCATGGCCGGCTGCACC	0.622																																						uc004brh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(898-900)GCC>TCC		hypothetical protein LOC64855 isoform 1							191.0	178.0	182.0					9																	130279211		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130279211C>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.898G>T	9.37:g.130279211C>A	ENSP00000362409:p.Ala300Ser					FAM129B_uc004bri.2_Missense_Mutation_p.A287S|FAM129B_uc004brj.3_Missense_Mutation_p.A300S	p.A300S	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			8	1100	-			300					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.898G>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644854	0.29246	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.23147	1.92;1.92	4.87	4.87	0.63330	.	0.303115	0.36303	N	0.002661	T	0.19846	0.0477	L	0.43152	1.355	0.50467	D	0.999875	B;B	0.31227	0.314;0.314	B;B	0.23419	0.046;0.046	T	0.03898	-1.0994	10	0.09084	T	0.74	-31.6719	15.5257	0.75901	0.0:1.0:0.0:0.0	.	287;300	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	S	287;300	ENSP00000362411:A287S;ENSP00000362409:A300S	ENSP00000362409:A300S	A	-	1	0	FAM129B	129319032	0.994000	0.37717	1.000000	0.80357	0.305000	0.27757	2.455000	0.44988	2.250000	0.74265	0.655000	0.94253	GCC		PASS	0.622	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		27	103	27	103	---	---	---	---
FAM129B	64855	broad.mit.edu	37	9	130279214	130279214	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:130279214G>C	ENST00000373312.3	-	8	1108	c.895C>G	c.(895-897)Ccg>Gcg	p.P299A	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.P286A	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	299					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P299A(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCATGGCCGGCTGCACCTGC	0.622																																						uc004brh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(895-897)CCG>GCG		hypothetical protein LOC64855 isoform 1							189.0	175.0	180.0					9																	130279214		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130279214G>C	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.895C>G	9.37:g.130279214G>C	ENSP00000362409:p.Pro299Ala					FAM129B_uc004bri.2_Missense_Mutation_p.P286A|FAM129B_uc004brj.3_Missense_Mutation_p.P299A	p.P299A	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			8	1097	-			299					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.895C>G	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	9.733	1.162732	0.21538	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.22743	1.94;1.94	4.87	4.87	0.63330	.	0.380726	0.29537	N	0.011865	T	0.16938	0.0407	L	0.45581	1.43	0.37211	D	0.904801	B;B	0.33266	0.404;0.404	B;B	0.32583	0.148;0.148	T	0.05903	-1.0857	10	0.09084	T	0.74	-34.6969	11.4295	0.50032	0.0:0.1826:0.8174:0.0	.	286;299	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	A	286;299	ENSP00000362411:P286A;ENSP00000362409:P299A	ENSP00000362409:P299A	P	-	1	0	FAM129B	129319035	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	3.192000	0.50989	2.250000	0.74265	0.655000	0.94253	CCG		PASS	0.622	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		28	103	28	103	---	---	---	---
C9orf117	286207	broad.mit.edu	37	9	130473730	130473730	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:130473730G>A	ENST00000373295.2	+	4	850	c.810G>A	c.(808-810)gaG>gaA	p.E270E	C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	270								p.E270E(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGCTGCTGGAGAACACCCAGA	0.587																																						uc004brn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(808-810)GAG>GAA		hypothetical protein LOC286207							61.0	63.0	62.0					9																	130473730		2030	4212	6242	SO:0001819	synonymous_variant	286207							g.chr9:130473730G>A	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.810G>A	9.37:g.130473730G>A						PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA	p.E270E	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN			4	850	+			270			Potential.		A5D8T9	Silent	SNP	ENST00000373295.2	37	c.810G>A	CCDS43878.1																																																																																				PASS	0.587	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		45	28	45	28	---	---	---	---
USP20	10868	broad.mit.edu	37	9	132623876	132623876	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:132623876A>C	ENST00000315480.4	+	8	640	c.482A>C	c.(481-483)cAg>cCg	p.Q161P	USP20_ENST00000358355.1_Missense_Mutation_p.Q161P|USP20_ENST00000372429.3_Missense_Mutation_p.Q161P			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	161	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.Q161P(3)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCTGCCCTGCAGGCCCTGTCC	0.622																																						uc004bys.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|breast(1)	2						c.(481-483)CAG>CCG		ubiquitin specific protease 20							55.0	55.0	55.0					9																	132623876		2014	4172	6186	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132623876A>C	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.482A>C	9.37:g.132623876A>C	ENSP00000313811:p.Gln161Pro					USP20_uc004byr.2_Missense_Mutation_p.Q161P|USP20_uc004byt.1_Missense_Mutation_p.Q161P	p.Q161P	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN			8	693	+		Ovarian(14;0.00556)	161					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.482A>C	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200127	0.79015	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.10192	2.9;2.9;2.9	5.59	5.59	0.84812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	H	0.95645	3.7	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.62647	-0.6810	10	0.87932	D	0	.	14.9556	0.71110	1.0:0.0:0.0:0.0	.	161	Q9Y2K6	UBP20_HUMAN	P	161	ENSP00000361506:Q161P;ENSP00000313811:Q161P;ENSP00000351122:Q161P	ENSP00000313811:Q161P	Q	+	2	0	USP20	131663697	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	8.763000	0.91715	2.120000	0.65058	0.459000	0.35465	CAG		PASS	0.622	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			19	20	19	20	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134049561	134049561	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:134049561G>C	ENST00000359428.5	+	22	3157	c.3013G>C	c.(3013-3015)Gat>Cat	p.D1005H	NUP214_ENST00000411637.2_Missense_Mutation_p.D995H|NUP214_ENST00000451030.1_Missense_Mutation_p.D1006H			P35658	NU214_HUMAN	nucleoporin 214kDa	1005	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.D1005H(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTCCTGTAAAGATGACGAGGC	0.537			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(3013-3015)GAT>CAT		nucleoporin 214kDa							124.0	111.0	115.0					9																	134049561		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134049561G>C	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3013G>C	9.37:g.134049561G>C	ENSP00000352400:p.Asp1005His					NUP214_uc004cah.2_Missense_Mutation_p.D995H|NUP214_uc004cai.2_Missense_Mutation_p.D435H|NUP214_uc004caf.1_Missense_Mutation_p.D994H|NUP214_uc010mzf.2_Missense_Mutation_p.D303H	p.D1005H	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	22	3124	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1005			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.3013G>C	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409752	0.62399	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.34275	1.37;1.37;1.37	5.81	5.81	0.92471	.	0.470292	0.17840	N	0.160245	T	0.36744	0.0978	N	0.08118	0	0.40086	D	0.976199	D;P;D;P	0.65815	0.991;0.616;0.995;0.858	P;P;P;P	0.62435	0.902;0.495;0.874;0.884	T	0.37776	-0.9691	10	0.62326	D	0.03	-7.8567	12.3875	0.55340	0.0761:0.0:0.9239:0.0	.	994;599;995;1005	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	H	1005;995;1006;994;599;434	ENSP00000352400:D1005H;ENSP00000396576:D995H;ENSP00000405014:D1006H	ENSP00000352400:D1005H	D	+	1	0	NUP214	133039382	1.000000	0.71417	0.410000	0.26471	0.137000	0.21094	2.815000	0.48018	2.746000	0.94184	0.655000	0.94253	GAT		PASS	0.537	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		13	53	13	53	---	---	---	---
RPL7A	6130	broad.mit.edu	37	9	136216887	136216887	+	Missense_Mutation	SNP	G	G	C	rs11549063		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:136216887G>C	ENST00000323345.6	+	4	425	c.395G>C	c.(394-396)aGa>aCa	p.R132T	MED22_ENST00000343730.5_5'Flank|SNORD24_ENST00000383884.1_RNA|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000491289.1_5'Flank|SNORD36B_ENST00000363961.1_RNA|RPL7A_ENST00000315731.4_Missense_Mutation_p.R17T|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000471524.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|SURF1_ENST00000495952.1_5'Flank|MED22_ENST00000344469.5_5'Flank|MED22_ENST00000371999.1_5'Flank|SNORD36A_ENST00000362874.1_RNA	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	132					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R132T(1)		cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CCAACGAAGAGACCACCTGTC	0.552																																						uc004cde.1																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)AGA>ACA		ribosomal protein L7a							59.0	63.0	62.0					9																	136216887		2203	4300	6503	SO:0001583	missense	6130				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome	g.chr9:136216887G>C	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.395G>C	9.37:g.136216887G>C	ENSP00000361076:p.Arg132Thr					MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_5'UTR|SNORD36B_uc010nai.1_5'Flank|SNORD36A_uc010naj.2_5'Flank|SNORD36C_uc010nak.2_5'Flank	p.R132T	NM_000972	NP_000963	P62424	RL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)	4	425	+			132					P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	37	c.395G>C	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303502	0.81136	.	.	ENSG00000148303	ENST00000323345;ENST00000426651;ENST00000315731	T;T;T	0.58940	0.3;0.3;0.3	5.1	5.1	0.69264	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	M	0.87456	2.885	0.80722	D	1	B	0.26081	0.141	B	0.38156	0.266	T	0.74352	-0.3693	10	0.72032	D	0.01	.	17.4807	0.87672	0.0:0.0:1.0:0.0	.	132	P62424	RL7A_HUMAN	T	132;159;17	ENSP00000361076:R132T;ENSP00000416638:R159T;ENSP00000361071:R17T	ENSP00000361071:R17T	R	+	2	0	RPL7A	135206708	1.000000	0.71417	0.995000	0.50966	0.433000	0.31745	8.733000	0.91539	2.359000	0.80004	0.591000	0.81541	AGA		PASS	0.552	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		23	18	23	18	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139288772	139288772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:139288772C>T	ENST00000298532.2	-	6	929	c.561G>A	c.(559-561)tgG>tgA	p.W187*		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.W187*(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGCCTTTTCCCAGTTTTTCC	0.552																																						uc004chh.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(559-561)TGG>TGA		small nuclear RNA activating complex,							129.0	124.0	126.0					9																	139288772		2203	4300	6503	SO:0001587	stop_gained	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139288772C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.561G>A	9.37:g.139288772C>T	ENSP00000298532:p.Trp187*						p.W187*	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	6	570	-		Myeloproliferative disorder(178;0.0511)	187						Nonsense_Mutation	SNP	ENST00000298532.2	37	c.561G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	39	7.778414	0.98483	.	.	ENSG00000165684	ENST00000298532	.	.	.	4.8	3.89	0.44902	.	0.553751	0.18777	N	0.131440	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-4.4706	5.1481	0.14996	0.0:0.7174:0.0:0.2826	.	.	.	.	X	187	.	ENSP00000298532:W187X	W	-	3	0	SNAPC4	138408593	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.609000	0.36858	2.215000	0.71742	0.650000	0.86243	TGG		PASS	0.552	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		22	33	22	33	---	---	---	---
FAM166A	401565	broad.mit.edu	37	9	140139971	140139971	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:140139971G>A	ENST00000344774.4	-	3	364	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	FAM166A_ENST00000388932.2_Missense_Mutation_p.L104F	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	104						nucleus (GO:0005634)		p.L104F(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						AAGGGTGGGAGCTGGCCCAGA	0.642																																						uc004cmi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(310-312)CTC>TTC		hypothetical protein LOC401565							60.0	75.0	70.0					9																	140139971		2187	4294	6481	SO:0001583	missense	401565							g.chr9:140139971G>A	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.310C>T	9.37:g.140139971G>A	ENSP00000344729:p.Leu104Phe						p.L104F	NM_001001710	NP_001001710	Q6J272	F166A_HUMAN			3	365	-			104					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.310C>T	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.389986	0.00200	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.1	4.05	0.47172	.	0.353536	0.27068	N	0.021094	T	0.08714	0.0216	N	0.02736	-0.51	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35968	-0.9767	9	0.02654	T	1	-24.9004	2.3684	0.04324	0.485:0.3027:0.2124:0.0	.	104	Q6J272	F166A_HUMAN	F	104;104;131	.	ENSP00000344729:L104F	L	-	1	0	FAM166A	139259792	0.002000	0.14202	0.069000	0.20011	0.020000	0.10135	1.410000	0.34691	0.930000	0.37217	0.462000	0.41574	CTC		PASS	0.642	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		39	28	39	28	---	---	---	---
C9orf173	441476	broad.mit.edu	37	9	140146505	140146505	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr9:140146505C>G	ENST00000412566.1	+	3	330	c.321C>G	c.(319-321)acC>acG	p.T107T	C9orf173_ENST00000388931.3_Silent_p.T107T			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	107								p.T107T(1)		kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						CCAGCCCCACCAGGTACCAGG	0.672																																						uc004cmk.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(316-318)ACC>ACG		SubName: Full=LOC441476 protein;							34.0	44.0	41.0					9																	140146505		2038	4170	6208	SO:0001819	synonymous_variant	441476							g.chr9:140146505C>G		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.321C>G	9.37:g.140146505C>G						C9orf173_uc004cmj.1_Silent_p.T107T|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_Intron|C9orf173_uc011mev.1_Silent_p.T106T|C9orf173_uc004cml.1_Silent_p.T106T	p.T106T			Q8N7X2	CI173_HUMAN			3	330	+			107					A2RU24|B7ZM72|B7ZM76|Q8NEA3	Silent	SNP	ENST00000412566.1	37	c.318C>G	CCDS48065.1																																																																																				PASS	0.672	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004353		9	7	9	7	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12159705	12159705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:12159705G>T	ENST00000263035.4	+	14	2415	c.2353G>T	c.(2353-2355)Gga>Tga	p.G785*	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	785					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G785*(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AATGGCACCAGGAACAACATT	0.428																																						uc001ild.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2353-2355)GGA>TGA		dehydrogenase E1 and transketolase domain							195.0	168.0	177.0					10																	12159705		2203	4300	6503	SO:0001587	stop_gained	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12159705G>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2353G>T	10.37:g.12159705G>T	ENSP00000263035:p.Gly785*						p.G785*	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		14	2452	+		Renal(717;0.228)	785					Q68CU5|Q9BUM8|Q9HCE2	Nonsense_Mutation	SNP	ENST00000263035.4	37	c.2353G>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	39	7.434341	0.98282	.	.	ENSG00000181192	ENST00000263035	.	.	.	5.42	4.5	0.54988	.	0.102981	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.1029	12.6878	0.56958	0.1352:0.0:0.8648:0.0	.	.	.	.	X	785	.	ENSP00000263035:G785X	G	+	1	0	DHTKD1	12199711	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.158000	0.64917	2.520000	0.84964	0.655000	0.94253	GGA		PASS	0.428	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		5	69	5	69	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16981039	16981039	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:16981039C>A	ENST00000377833.4	-	38	5721	c.5656G>T	c.(5656-5658)Gca>Tca	p.A1886S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1886	CUB 13. {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.A1886S(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)	ACGTGAGATGCATTCACATTT	0.393																																						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.(5656-5658)GCA>TCA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						157.0	142.0	147.0					10																	16981039		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.chr10:16981039C>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.5656G>T	10.37:g.16981039C>A	ENSP00000367064:p.Ala1886Ser						p.A1886S	NM_001081	NP_001072	O60494	CUBN_HUMAN			38	5708	-			1886			CUB 13.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5656G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	0.107	-1.143539	0.01728	.	.	ENSG00000107611	ENST00000377833	T	0.17370	2.28	5.12	2.17	0.27698	CUB (5);	1.688150	0.03683	N	0.245861	T	0.08088	0.0202	N	0.04880	-0.145	0.09310	N	1	B	0.19445	0.036	B	0.17722	0.019	T	0.30592	-0.9973	10	0.07644	T	0.81	.	5.6244	0.17475	0.2772:0.575:0.0:0.1478	.	1886	O60494	CUBN_HUMAN	S	1886	ENSP00000367064:A1886S	ENSP00000367064:A1886S	A	-	1	0	CUBN	17021045	0.000000	0.05858	0.010000	0.14722	0.481000	0.33189	0.621000	0.24418	0.636000	0.30508	0.585000	0.79938	GCA		PASS	0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		13	26	13	26	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17373464	17373464	+	Missense_Mutation	SNP	C	C	A	rs184856056		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:17373464C>A	ENST00000377602.4	-	5	539	c.465G>T	c.(463-465)gaG>gaT	p.E155D		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	155					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.E155D(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TGCTTTCCACCTCGTAACTCA	0.383																																						uc001ipd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(463-465)GAG>GAT		ST8 alpha-N-acetyl-neuraminide							122.0	123.0	123.0					10																	17373464		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17373464C>A		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.465G>T	10.37:g.17373464C>A	ENSP00000366827:p.Glu155Asp					ST8SIA6_uc010qce.1_RNA	p.E155D	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			5	465	-			155			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.465G>T	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905376	0.33628	.	.	ENSG00000148488	ENST00000377602	T	0.29142	1.58	4.77	-0.444	0.12245	.	0.046152	0.85682	D	0.000000	T	0.35189	0.0923	L	0.35793	1.09	0.42803	D	0.993935	D	0.76494	0.999	D	0.80764	0.994	T	0.14839	-1.0458	10	0.15499	T	0.54	-8.5548	8.856	0.35227	0.0:0.2829:0.0:0.7171	.	155	P61647	SIA8F_HUMAN	D	155	ENSP00000366827:E155D	ENSP00000366827:E155D	E	-	3	2	ST8SIA6	17413470	0.985000	0.35326	0.973000	0.42090	0.879000	0.50718	-0.018000	0.12568	0.023000	0.15187	0.655000	0.94253	GAG		PASS	0.383	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		16	23	16	23	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18242259	18242259	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:18242259C>A	ENST00000377369.2	+	2	327	c.54C>A	c.(52-54)ctC>ctA	p.L18L	SLC39A12_ENST00000377371.3_Silent_p.L18L|SLC39A12_ENST00000377374.4_Silent_p.L18L|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	18					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.L18L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTCTTCTACTCAGCCGTGTTT	0.527																																						uc001ipo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(52-54)CTC>CTA		solute carrier family 39 (zinc transporter),							116.0	115.0	115.0					10																	18242259		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18242259C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.54C>A	10.37:g.18242259C>A						SLC39A12_uc001ipn.2_Silent_p.L18L|SLC39A12_uc001ipp.2_Silent_p.L18L|SLC39A12_uc010qck.1_Intron	p.L18L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			2	327	+			18			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.54C>A	CCDS44362.1																																																																																				PASS	0.527	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		26	46	26	46	---	---	---	---
PIP4K2A	5305	broad.mit.edu	37	10	23003205	23003205	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:23003205C>G	ENST00000376573.4	-	1	279	c.51G>C	c.(49-51)aaG>aaC	p.K17N	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	17					megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.K17N(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TCTTCTTGGTCTTGGTCTTGC	0.647																																						uc001irl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(49-51)AAG>AAC		phosphatidylinositol-5-phosphate 4-kinase, type							87.0	79.0	82.0					10																	23003205		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:23003205C>G	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.51G>C	10.37:g.23003205C>G	ENSP00000365757:p.Lys17Asn						p.K17N	NM_005028	NP_005019	P48426	PI42A_HUMAN			1	299	-			17					B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.51G>C	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	c	19.72	3.880266	0.72294	.	.	ENSG00000150867	ENST00000376573	T	0.48522	0.81	3.71	2.81	0.32909	.	0.000000	0.64402	U	0.000008	T	0.65375	0.2685	M	0.84846	2.72	0.80722	D	1	D	0.62365	0.991	P	0.61328	0.887	T	0.68465	-0.5401	10	0.62326	D	0.03	.	9.9501	0.41634	0.0:0.8969:0.0:0.1031	.	17	P48426	PI42A_HUMAN	N	17	ENSP00000365757:K17N	ENSP00000365757:K17N	K	-	3	2	PIP4K2A	23043211	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.370000	0.44240	0.812000	0.34326	0.274000	0.19336	AAG		PASS	0.647	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		7	14	7	14	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24874831	24874831	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:24874831C>T	ENST00000396432.2	-	26	4873	c.4387G>A	c.(4387-4389)Gag>Aag	p.E1463K		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1462					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.E1462K(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCCAGTGTCTCACTTTCTTTT	0.388																																						uc001isb.2																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(7)|pancreas(1)	8						c.(4387-4389)GAG>AAG		Rho GTPase activating protein 21							174.0	168.0	170.0					10																	24874831		2203	4298	6501	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874831C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4387G>A	10.37:g.24874831C>T	ENSP00000379709:p.Glu1463Lys					ARHGAP21_uc010qdb.1_RNA	p.E1463K	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			26	4874	-			1462					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4387G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429465	0.43122	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10573	2.86	5.17	4.25	0.50352	.	0.284573	0.38111	N	0.001817	T	0.12263	0.0298	L	0.59436	1.845	0.24145	N	0.995711	B	0.10296	0.003	B	0.08055	0.003	T	0.09015	-1.0694	10	0.52906	T	0.07	.	10.405	0.44252	0.0:0.8484:0.0:0.1516	.	1462	Q5T5U3	RHG21_HUMAN	K	1463;912	ENSP00000379709:E1463K	ENSP00000379709:E1463K	E	-	1	0	ARHGAP21	24914837	0.193000	0.23313	0.160000	0.22671	0.091000	0.18340	2.889000	0.48601	2.380000	0.81148	0.655000	0.94253	GAG		PASS	0.388	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		28	45	28	45	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34573173	34573173	+	Splice_Site	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:34573173C>A	ENST00000374789.3	-	21	3400	c.3075G>T	c.(3073-3075)agG>agT	p.R1025S	PARD3_ENST00000374788.3_Splice_Site_p.R1022S|PARD3_ENST00000374790.3_Splice_Site_p.R965S|PARD3_ENST00000545693.1_Splice_Site_p.R1009S|PARD3_ENST00000350537.4_Splice_Site_p.R979S|PARD3_ENST00000545260.1_Splice_Site_p.R935S|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000466092.1_5'UTR	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1025	Lys-rich.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R1025S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTTGCCAAACCTGTTAATAA	0.323																																						uc010qej.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3073-3075)AGG>AGT		partitioning-defective protein 3 homolog							148.0	149.0	149.0					10																	34573173		2203	4299	6502	SO:0001630	splice_region_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34573173C>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3075-1G>T	10.37:g.34573173C>A						PARD3_uc010qek.1_Missense_Mutation_p.R1022S|PARD3_uc010qel.1_Intron|PARD3_uc010qem.1_Missense_Mutation_p.R1009S|PARD3_uc010qen.1_Missense_Mutation_p.R979S|PARD3_uc010qeo.1_Intron|PARD3_uc010qep.1_Missense_Mutation_p.R935S|PARD3_uc010qeq.1_Intron	p.R1025S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			21	3075	-		Breast(68;0.0707)	1025			Lys-rich.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3075G>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596340	0.66332	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000350537;ENST00000374790	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.84	5.84	0.93424	.	0.088480	0.85682	D	0.000000	T	0.37046	0.0989	L	0.52823	1.66	0.80722	D	1	P;P;P;P;P	0.48503	0.59;0.688;0.828;0.911;0.856	B;B;B;B;B	0.42593	0.168;0.178;0.234;0.392;0.219	T	0.20273	-1.0280	10	0.66056	D	0.02	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	935;979;1009;1022;1025	Q8TEW0-3;Q8TEW0-6;F5H5T0;Q8TEW0-2;Q8TEW0	.;.;.;.;PARD3_HUMAN	S	1009;935;1025;1022;979;965	ENSP00000443147:R1009S;ENSP00000440857:R935S;ENSP00000363921:R1025S;ENSP00000363920:R1022S;ENSP00000311986:R979S;ENSP00000363922:R965S	ENSP00000311986:R979S	R	-	3	2	PARD3	34613179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.982000	0.56909	2.764000	0.94973	0.650000	0.86243	AGG		PASS	0.323	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	Missense_Mutation	11	76	11	76	---	---	---	---
CREM	1390	broad.mit.edu	37	10	35467822	35467822	+	Silent	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:35467822A>T	ENST00000395895.2	+	5	483	c.321A>T	c.(319-321)gcA>gcT	p.A107A	CREM_ENST00000354759.3_Silent_p.A58A|CREM_ENST00000374726.3_Silent_p.A42A|CREM_ENST00000348787.2_Silent_p.A42A|CREM_ENST00000429130.3_Silent_p.A91A|CREM_ENST00000489321.1_Silent_p.A42A|CREM_ENST00000460270.1_Intron|CREM_ENST00000333809.8_Silent_p.A107A|CREM_ENST00000374728.3_Silent_p.A42A|CREM_ENST00000361599.4_Silent_p.A28A|CREM_ENST00000484283.1_Silent_p.A28A|CREM_ENST00000342105.3_Silent_p.A3A|CREM_ENST00000439705.1_Silent_p.A107A|CREM_ENST00000463314.1_Intron|CREM_ENST00000463960.1_Silent_p.A3A|CREM_ENST00000474362.1_Intron|CREM_ENST00000479070.1_Silent_p.A58A|CREM_ENST00000489388.1_3'UTR|CREM_ENST00000337656.4_Silent_p.A58A|CREM_ENST00000374721.3_Silent_p.A91A|CREM_ENST00000345491.3_Silent_p.A58A|CREM_ENST00000374734.3_Silent_p.A58A|CREM_ENST00000395887.3_Silent_p.A28A			Q03060	CREM_HUMAN	cAMP responsive element modulator	107	KID. {ECO:0000255|PROSITE- ProRule:PRU00312}.				cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A42A(1)|p.A58A(1)|p.A28A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TATAGGTAGCAGCAATTGCAG	0.358																																						uc001iyb.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(172-174)GCA>GCT		cAMP responsive element modulator isoform a							45.0	48.0	47.0					10																	35467822		2203	4300	6503	SO:0001819	synonymous_variant	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35467822A>T		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.321A>T	10.37:g.35467822A>T						CREM_uc001ixx.2_Silent_p.A42A|CREM_uc001ixy.2_Intron|CREM_uc001ixz.2_Intron|CREM_uc001iya.2_Silent_p.A58A|CREM_uc001iyc.2_Silent_p.A42A|CREM_uc001iyd.2_Silent_p.A58A|CREM_uc001iye.2_Silent_p.A58A|CREM_uc001iyf.2_Silent_p.A28A|CREM_uc001iyg.2_Silent_p.A28A|CREM_uc001iyh.2_Silent_p.A3A|CREM_uc001iyi.2_Silent_p.A3A|CREM_uc001iyj.2_5'UTR|CREM_uc001iyk.2_5'UTR	p.A58A	NM_181571	NP_853549	Q03060	CREM_HUMAN			4	336	+			107			KID.		A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Silent	SNP	ENST00000395895.2	37	c.174A>T																																																																																					PASS	0.358	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		6	22	6	22	---	---	---	---
ZNF25	219749	broad.mit.edu	37	10	38246038	38246038	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:38246038G>A	ENST00000302609.7	-	4	360	c.148C>T	c.(148-150)Cat>Tat	p.H50Y	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H50Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTATTCACATGGTAACCTATG	0.388																																						uc001ize.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(148-150)CAT>TAT		zinc finger protein 25							102.0	94.0	96.0					10																	38246038		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38246038G>A	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.148C>T	10.37:g.38246038G>A	ENSP00000302222:p.His50Tyr					ZNF25_uc001izf.1_Missense_Mutation_p.H14Y	p.H50Y	NM_145011	NP_659448	P17030	ZNF25_HUMAN			4	253	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	50			KRAB.		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.148C>T	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	G	7.104	0.574622	0.13623	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.41758	0.99	4.94	-0.954	0.10359	Krueppel-associated box (3);	1.578110	0.03803	N	0.264731	T	0.41213	0.1149	M	0.65498	2.005	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34527	-0.9825	10	0.54805	T	0.06	-1.1525	5.8287	0.18568	0.303:0.1428:0.5542:0.0	.	50	P17030	ZNF25_HUMAN	Y	50;14	ENSP00000302222:H50Y	ENSP00000302222:H50Y	H	-	1	0	ZNF25	38286044	0.001000	0.12720	0.000000	0.03702	0.270000	0.26580	0.005000	0.13129	-0.258000	0.09446	0.555000	0.69702	CAT		PASS	0.388	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		6	37	6	37	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38343517	38343517	+	Missense_Mutation	SNP	G	G	T	rs141144828		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:38343517G>T	ENST00000458705.2	+	5	620	c.462G>T	c.(460-462)ttG>ttT	p.L154F	ZNF33A_ENST00000307441.9_Missense_Mutation_p.L154F|ZNF33A_ENST00000374618.3_Missense_Mutation_p.L155F|ZNF33A_ENST00000432900.2_Missense_Mutation_p.L161F|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	154					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.L154F(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTTCAGAATTGGTTATCAGTA	0.323																																						uc001izh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(460-462)TTG>TTT		zinc finger protein 33A isoform b							68.0	68.0	68.0					10																	38343517		2203	4298	6501	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343517G>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.462G>T	10.37:g.38343517G>T	ENSP00000387713:p.Leu154Phe					ZNF33A_uc001izg.2_Missense_Mutation_p.L155F|ZNF33A_uc010qev.1_Missense_Mutation_p.L161F|ZNF33A_uc001izi.1_Intron	p.L154F	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	640	+			154					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.462G>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	7.571	0.666644	0.14710	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	2.26	0.26	0.15588	.	1.302350	0.05899	N	0.629712	T	0.48241	0.1489	L	0.31294	0.92	0.09310	N	1	D;D;P	0.89917	1.0;1.0;0.933	D;D;P	0.91635	0.999;0.963;0.551	T	0.38265	-0.9669	10	0.49607	T	0.09	.	4.4006	0.11385	0.5255:0.0:0.4745:0.0	.	161;154;155	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	F	155;161;154;154	ENSP00000363747:L155F;ENSP00000402467:L161F;ENSP00000387713:L154F;ENSP00000304268:L154F	ENSP00000304268:L154F	L	+	3	2	ZNF33A	38383523	0.000000	0.05858	0.090000	0.20809	0.169000	0.22640	-0.523000	0.06230	0.265000	0.21872	0.460000	0.39030	TTG		PASS	0.323	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		13	56	13	56	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43088981	43088981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:43088981C>A	ENST00000359467.3	-	5	1531	c.1417G>T	c.(1417-1419)Gag>Tag	p.E473*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	473					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.E473*(1)|p.E473Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCCCACACTCAAGACATTCA	0.378																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)		0						c.(1417-1419)GAG>TAG		zinc finger protein 33B							91.0	87.0	89.0					10																	43088981		2203	4300	6503	SO:0001587	stop_gained	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088981C>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1417G>T	10.37:g.43088981C>A	ENSP00000352444:p.Glu473*					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.E361*|ZNF33B_uc001jad.2_Intron	p.E473*	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	1532	-			473			C2H2-type 6.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Nonsense_Mutation	SNP	ENST00000359467.3	37	c.1417G>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931908	0.92389	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	2.58	1.4	0.22301	.	0.262056	0.20071	N	0.099862	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.3468	0.21353	0.0:0.7866:0.0:0.2134	.	.	.	.	X	473;439	.	ENSP00000352444:E473X	E	-	1	0	ZNF33B	42408987	0.000000	0.05858	0.553000	0.28255	0.816000	0.46133	-0.707000	0.05041	0.465000	0.27167	0.416000	0.27883	GAG		PASS	0.378	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		15	38	15	38	---	---	---	---
RASSF4	83937	broad.mit.edu	37	10	45486418	45486418	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:45486418C>T	ENST00000340258.5	+	9	821	c.708C>T	c.(706-708)tgC>tgT	p.C236C	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Silent_p.C245C	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.C236C(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TAAAAGACTGCGAGTACCCGC	0.473																																						uc001jbo.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(706-708)TGC>TGT		Ras association domain family 4							76.0	86.0	83.0					10																	45486418		2203	4300	6503	SO:0001819	synonymous_variant	83937				cell cycle|signal transduction		protein binding	g.chr10:45486418C>T	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.708C>T	10.37:g.45486418C>T						RASSF4_uc001jbp.2_Silent_p.C267C|RASSF4_uc009xmn.2_Silent_p.C166C|RASSF4_uc001jbq.2_Silent_p.C133C|RASSF4_uc001jbt.2_Silent_p.C193C	p.C236C	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN			9	842	+			236			Ras-associating.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000340258.5	37	c.708C>T	CCDS7208.1																																																																																				PASS	0.473	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		10	65	10	65	---	---	---	---
OR13A1	79290	broad.mit.edu	37	10	45799210	45799210	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:45799210C>A	ENST00000553795.1	-	4	969	c.661G>T	c.(661-663)Gat>Tat	p.D221Y	OR13A1_ENST00000374401.2_Missense_Mutation_p.D221Y|OR13A1_ENST00000536058.1_Missense_Mutation_p.D221Y	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D221Y(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TAGAAAGCATCCGCCAGGACA	0.547																																						uc001jcc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(661-663)GAT>TAT		olfactory receptor, family 13, subfamily A,							83.0	82.0	82.0					10																	45799210		2203	4300	6503	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799210C>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.661G>T	10.37:g.45799210C>A	ENSP00000451950:p.Asp221Tyr					OR13A1_uc001jcd.1_Missense_Mutation_p.D217Y	p.D221Y	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	970	-			221			Helical; Name=5; (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.661G>T	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	c	10.25	1.297729	0.23650	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.36878	1.23;1.23;1.23	5.78	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.140033	0.32357	N	0.006216	T	0.45337	0.1337	L	0.40543	1.245	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.25117	-1.0141	10	0.66056	D	0.02	-43.5681	5.6335	0.17524	0.1573:0.6797:0.0:0.1631	.	221	Q8NGR1	O13A1_HUMAN	Y	221	ENSP00000451950:D221Y;ENSP00000438657:D221Y;ENSP00000363522:D221Y	ENSP00000311379:D221Y	D	-	1	0	OR13A1	45119216	0.001000	0.12720	0.029000	0.17559	0.130000	0.20726	0.896000	0.28377	0.785000	0.33685	0.650000	0.86243	GAT		PASS	0.547	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		9	56	9	56	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48389621	48389621	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:48389621C>G	ENST00000224600.4	-	1	1370	c.1257G>C	c.(1255-1257)gaG>gaC	p.E419D	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	419	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.E419D(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCCGGATAGCCTCGTCCTCAG	0.637																																						uc001jez.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1255-1257)GAG>GAC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						54.0	50.0	51.0					10																	48389621		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389621C>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1257G>C	10.37:g.48389621C>G	ENSP00000224600:p.Glu419Asp						p.E419D	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1371	-			419			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1257G>C	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.889090	0.33348	.	.	ENSG00000107618	ENST00000224600	T	0.66460	-0.21	5.43	-1.3	0.09259	Interphotoreceptor retinol-binding (1);	0.373267	0.29646	N	0.011571	T	0.66839	0.2830	M	0.64080	1.96	0.09310	N	0.999998	P	0.35807	0.522	P	0.50791	0.65	T	0.62101	-0.6925	10	0.59425	D	0.04	-20.9142	2.6551	0.05010	0.103:0.4331:0.2048:0.2591	.	419	P10745	RET3_HUMAN	D	419	ENSP00000224600:E419D	ENSP00000224600:E419D	E	-	3	2	RBP3	48009627	0.000000	0.05858	0.005000	0.12908	0.864000	0.49448	-0.371000	0.07513	-0.542000	0.06249	-1.268000	0.01426	GAG		PASS	0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		4	27	4	27	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50531521	50531521	+	Silent	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:50531521T>C	ENST00000374144.3	+	3	1219	c.931T>C	c.(931-933)Ttg>Ctg	p.L311L	C10orf71_ENST00000323868.4_Silent_p.L311L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	311								p.L311L(2)		endometrium(1)	1						GGACACGACCTTGCTAAGAGA	0.572																																						uc010qgp.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(931-933)TTG>CTG		hypothetical protein LOC118461 isoform 2							69.0	78.0	75.0					10																	50531521		2061	4203	6264	SO:0001819	synonymous_variant	118461							g.chr10:50531521T>C	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.931T>C	10.37:g.50531521T>C							p.L311L	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	1270	+			311					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.931T>C	CCDS44387.1																																																																																				PASS	0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		7	51	7	51	---	---	---	---
DRGX	644168	broad.mit.edu	37	10	50574366	50574366	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:50574366T>G	ENST00000374139.2	-	6	597	c.587A>C	c.(586-588)tAt>tCt	p.Y196S	DRGX_ENST00000434016.1_Missense_Mutation_p.Y201S			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	196					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Y201S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTGGCAGCCATAGGTGGGAAG	0.612																																						uc010qgq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)TAT>TCT		dorsal root ganglia homeobox							47.0	55.0	52.0					10																	50574366		2085	4206	6291	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50574366T>G		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.587A>C	10.37:g.50574366T>G	ENSP00000363254:p.Tyr196Ser						p.Y201S	NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN			6	602	-			201						Missense_Mutation	SNP	ENST00000374139.2	37	c.602A>C		.	.	.	.	.	.	.	.	.	.	T	19.81	3.897405	0.72639	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.91180	-2.8;-2.74	5.54	5.54	0.83059	.	0.122886	0.56097	D	0.000022	D	0.90683	0.7077	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.87080	0.2165	10	0.08599	T	0.76	.	15.678	0.77344	0.0:0.0:0.0:1.0	.	201	C9JW76	.	S	196;201	ENSP00000363254:Y196S;ENSP00000401653:Y201S	ENSP00000363254:Y196S	Y	-	2	0	DRGX	50244372	1.000000	0.71417	0.981000	0.43875	0.977000	0.68977	7.662000	0.83803	2.098000	0.63641	0.533000	0.62120	TAT		PASS	0.612	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		11	17	11	17	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52566514	52566514	+	Missense_Mutation	SNP	C	C	T	rs530902814		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:52566514C>T	ENST00000373993.1	-	11	1804	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	A1CF_ENST00000395495.1_Missense_Mutation_p.R532Q|A1CF_ENST00000374001.2_Missense_Mutation_p.R579Q|A1CF_ENST00000373995.3_Missense_Mutation_p.R587Q|A1CF_ENST00000395489.2_Missense_Mutation_p.R580Q|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Missense_Mutation_p.R587Q|A1CF_ENST00000373997.3_Missense_Mutation_p.R579Q			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	587					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.R587Q(2)|p.R579Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCCATCCCCTCGGGCAGTCAC	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16570	0.0		0.0	False		,,,				2504	0.0					uc001jjj.2																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	central_nervous_system(1)	1						c.(1759-1761)CGA>CAA		apobec-1 complementation factor isoform 2							109.0	102.0	104.0					10																	52566514		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52566514C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1760G>A	10.37:g.52566514C>T	ENSP00000363105:p.Arg587Gln					A1CF_uc010qhn.1_Missense_Mutation_p.R587Q|A1CF_uc001jji.2_Missense_Mutation_p.R579Q|A1CF_uc001jjh.2_Missense_Mutation_p.R587Q|A1CF_uc010qho.1_Missense_Mutation_p.R595Q|A1CF_uc009xov.2_Missense_Mutation_p.R579Q	p.R587Q	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			13	1948	-			587					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1760G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966959	0.92855	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.23348	2.31;2.3;2.31;2.25;2.3;1.91;2.29	5.74	4.84	0.62591	.	0.067440	0.64402	D	0.000012	T	0.38026	0.1025	L	0.29908	0.895	0.52501	D	0.999956	D;D;B;D	0.76494	0.999;0.997;0.002;0.998	D;D;B;P	0.77557	0.99;0.968;0.002;0.852	T	0.23226	-1.0194	10	0.72032	D	0.01	-3.1442	12.8299	0.57740	0.0:0.9208:0.0:0.0792	.	580;587;579;587	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	Q	579;587;579;587;587;532;562;580	ENSP00000363113:R579Q;ENSP00000363105:R587Q;ENSP00000363109:R579Q;ENSP00000363107:R587Q;ENSP00000282641:R587Q;ENSP00000378873:R532Q;ENSP00000378868:R580Q	ENSP00000282641:R587Q	R	-	2	0	A1CF	52236520	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.433000	0.59929	1.436000	0.47453	0.650000	0.86243	CGA		PASS	0.418	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		10	37	10	37	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587246	55587246	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:55587246G>C	ENST00000320301.6	-	32	4668	c.4274C>G	c.(4273-4275)gCa>gGa	p.A1425G	PCDH15_ENST00000395445.1_Missense_Mutation_p.A1432G|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1400G|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1425G|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1432G|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1385G|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1427G|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1425G|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1422G|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1036G|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1354G	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1425					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A1425G(2)|p.A1427G(1)|p.A1430G(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCCGGCACTGCTGGTTTAGC	0.552										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4273-4275)GCA>GGA		protocadherin 15 isoform CD1-4 precursor							67.0	72.0	71.0					10																	55587246		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587246G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4274C>G	10.37:g.55587246G>C	ENSP00000322604:p.Ala1425Gly	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.A1430G|PCDH15_uc010qhr.1_Missense_Mutation_p.A1425G|PCDH15_uc010qhs.1_Missense_Mutation_p.A1437G|PCDH15_uc010qht.1_Missense_Mutation_p.A1432G|PCDH15_uc010qhu.1_Missense_Mutation_p.A1425G|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1422G|PCDH15_uc010qhw.1_Missense_Mutation_p.A1385G|PCDH15_uc010qhx.1_Missense_Mutation_p.A1354G|PCDH15_uc010qhy.1_Missense_Mutation_p.A1430G|PCDH15_uc010qhz.1_Missense_Mutation_p.A1425G|PCDH15_uc010qia.1_Missense_Mutation_p.A1403G|PCDH15_uc010qib.1_Missense_Mutation_p.A1400G	p.A1425G	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			32	4669	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1425			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4274C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726599	0.48833	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.59502	3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;0.26	5.5	5.5	0.81552	.	.	.	.	.	T	0.49270	0.1547	N	0.11560	0.145	0.42790	D	0.993896	P;B;B;B;B;B;P;B;B;B;B;B;B	0.46142	0.873;0.008;0.008;0.004;0.044;0.008;0.873;0.023;0.022;0.022;0.023;0.013;0.001	P;B;B;B;B;B;P;B;B;B;B;B;B	0.48921	0.595;0.007;0.007;0.008;0.062;0.007;0.595;0.009;0.013;0.008;0.021;0.028;0.005	T	0.52953	-0.8506	9	0.40728	T	0.16	.	17.5349	0.87827	0.0:0.0:1.0:0.0	.	1400;1425;1425;1430;1354;1385;1422;1425;1432;1432;1425;1427;1425	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	G	1432;1427;1425;1425;1036;1432;1385;1425;1400;1425;1422;1430;1354	ENSP00000363076:A1432G;ENSP00000410304:A1427G;ENSP00000378826:A1425G;ENSP00000386693:A1036G;ENSP00000378832:A1432G;ENSP00000378820:A1385G;ENSP00000354950:A1425G;ENSP00000378821:A1400G;ENSP00000322604:A1425G;ENSP00000378818:A1422G;ENSP00000412628:A1354G	ENSP00000322604:A1425G	A	-	2	0	PCDH15	55257252	0.968000	0.33430	0.808000	0.32385	0.421000	0.31385	4.888000	0.63164	2.739000	0.93911	0.491000	0.48974	GCA		PASS	0.552	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		3	25	3	25	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55839174	55839174	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:55839174G>A	ENST00000320301.6	-	17	2402	c.2008C>T	c.(2008-2010)Cta>Tta	p.L670L	PCDH15_ENST00000395445.1_Silent_p.L677L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.L648L|PCDH15_ENST00000395446.1_Silent_p.L670L|PCDH15_ENST00000373957.3_Silent_p.L648L|PCDH15_ENST00000373955.1_Silent_p.L670L|PCDH15_ENST00000361849.3_Silent_p.L670L|PCDH15_ENST00000373965.2_Silent_p.L677L|PCDH15_ENST00000395432.2_Silent_p.L633L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.L675L|PCDH15_ENST00000395438.1_Silent_p.L670L|PCDH15_ENST00000395430.1_Silent_p.L670L|PCDH15_ENST00000409834.1_Silent_p.L281L|PCDH15_ENST00000437009.1_Silent_p.L599L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	670	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L670L(2)|p.L675L(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTAAGGTTAGAATCCCCGTG	0.423										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2008-2010)CTA>TTA		protocadherin 15 isoform CD1-4 precursor							218.0	200.0	206.0					10																	55839174		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55839174G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2008C>T	10.37:g.55839174G>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.L675L|PCDH15_uc010qhr.1_Silent_p.L670L|PCDH15_uc010qhs.1_Silent_p.L682L|PCDH15_uc010qht.1_Silent_p.L677L|PCDH15_uc010qhu.1_Silent_p.L670L|PCDH15_uc001jjv.1_Silent_p.L648L|PCDH15_uc010qhv.1_Silent_p.L670L|PCDH15_uc010qhw.1_Silent_p.L633L|PCDH15_uc010qhx.1_Silent_p.L599L|PCDH15_uc010qhy.1_Silent_p.L675L|PCDH15_uc010qhz.1_Silent_p.L670L|PCDH15_uc010qia.1_Silent_p.L648L|PCDH15_uc010qib.1_Silent_p.L648L|PCDH15_uc001jjw.2_Silent_p.L670L	p.L670L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			17	2403	-		Melanoma(3;0.117)|Lung SC(717;0.238)	670			Cadherin 6.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.2008C>T	CCDS7248.1																																																																																				PASS	0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		25	116	25	116	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55973758	55973758	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:55973758C>G	ENST00000320301.6	-	10	1430	c.1036G>C	c.(1036-1038)Gaa>Caa	p.E346Q	PCDH15_ENST00000395445.1_Missense_Mutation_p.E346Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.E346Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.E324Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.E346Q|PCDH15_ENST00000373957.3_Missense_Mutation_p.E324Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.E346Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.E346Q|PCDH15_ENST00000373965.2_Missense_Mutation_p.E346Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.E309Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.E346Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.E351Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.E346Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.E346Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E346Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	346	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.E346Q(2)|p.E351Q(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGACTAAGTTCTGCTGTCCTA	0.358										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13	GRCh37	CM064159	PCDH15	M		c.(1036-1038)GAA>CAA		protocadherin 15 isoform CD1-4 precursor							89.0	90.0	90.0					10																	55973758		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55973758C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1036G>C	10.37:g.55973758C>G	ENSP00000322604:p.Glu346Gln	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.E351Q|PCDH15_uc010qhr.1_Missense_Mutation_p.E346Q|PCDH15_uc010qhs.1_Missense_Mutation_p.E351Q|PCDH15_uc010qht.1_Missense_Mutation_p.E346Q|PCDH15_uc010qhu.1_Missense_Mutation_p.E346Q|PCDH15_uc001jjv.1_Missense_Mutation_p.E324Q|PCDH15_uc010qhv.1_Missense_Mutation_p.E346Q|PCDH15_uc010qhw.1_Missense_Mutation_p.E309Q|PCDH15_uc010qhx.1_Missense_Mutation_p.E346Q|PCDH15_uc010qhy.1_Missense_Mutation_p.E351Q|PCDH15_uc010qhz.1_Missense_Mutation_p.E346Q|PCDH15_uc010qia.1_Missense_Mutation_p.E324Q|PCDH15_uc010qib.1_Missense_Mutation_p.E324Q|PCDH15_uc001jjw.2_Missense_Mutation_p.E346Q	p.E346Q	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			10	1431	-		Melanoma(3;0.117)|Lung SC(717;0.238)	346			Cadherin 3.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1036G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571631	0.45798	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;2.34;1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45357	0.1338	M	0.66297	2.02	0.31945	N	0.610479	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31193	0.079;0.165;0.165;0.312;0.144;0.165;0.079;0.023;0.165;0.085;0.047;0.096;0.005;0.159;0.085	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.27715	0.031;0.057;0.046;0.072;0.082;0.057;0.031;0.019;0.045;0.033;0.033;0.031;0.041;0.082;0.046	T	0.57189	-0.7854	9	0.52906	T	0.07	.	18.2064	0.89855	0.0:1.0:0.0:0.0	.	324;346;346;351;346;309;346;346;346;346;346;351;346;324;346	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	346;351;346;346;346;346;346;346;309;346;324;324;346;346;351;346;346	ENSP00000363076:E346Q;ENSP00000410304:E351Q;ENSP00000378826:E346Q;ENSP00000378832:E346Q;ENSP00000378833:E346Q;ENSP00000378829:E346Q;ENSP00000378827:E346Q;ENSP00000378820:E309Q;ENSP00000354950:E346Q;ENSP00000378821:E324Q;ENSP00000363068:E324Q;ENSP00000322604:E346Q;ENSP00000378818:E346Q;ENSP00000412628:E346Q;ENSP00000363066:E346Q	ENSP00000322604:E346Q	E	-	1	0	PCDH15	55643764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.943000	0.56621	2.471000	0.83476	0.557000	0.71058	GAA		PASS	0.358	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		21	68	21	68	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	56106233	56106233	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:56106233A>G	ENST00000320301.6	-	6	880	c.486T>C	c.(484-486)gtT>gtC	p.V162V	PCDH15_ENST00000395445.1_Silent_p.V162V|PCDH15_ENST00000395442.1_Silent_p.V162V|PCDH15_ENST00000395433.1_Silent_p.V140V|PCDH15_ENST00000395446.1_Silent_p.V162V|PCDH15_ENST00000373957.3_Silent_p.V140V|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000373955.1_Silent_p.V162V|PCDH15_ENST00000361849.3_Silent_p.V162V|PCDH15_ENST00000373965.2_Silent_p.V162V|PCDH15_ENST00000395432.2_Silent_p.V162V|PCDH15_ENST00000395440.1_Silent_p.V162V|PCDH15_ENST00000414778.1_Silent_p.V167V|PCDH15_ENST00000395438.1_Silent_p.V162V|PCDH15_ENST00000395430.1_Silent_p.V162V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Silent_p.V162V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V162V(2)|p.V167V(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTGGTACCAACTGGAGTGA	0.338										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(484-486)GTT>GTC		protocadherin 15 isoform CD1-4 precursor							145.0	149.0	148.0					10																	56106233		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56106233A>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.486T>C	10.37:g.56106233A>G		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.V167V|PCDH15_uc010qhr.1_Silent_p.V162V|PCDH15_uc010qhs.1_Silent_p.V167V|PCDH15_uc010qht.1_Silent_p.V162V|PCDH15_uc010qhu.1_Silent_p.V162V|PCDH15_uc001jjv.1_Silent_p.V140V|PCDH15_uc010qhv.1_Silent_p.V162V|PCDH15_uc010qhw.1_Silent_p.V162V|PCDH15_uc010qhx.1_Silent_p.V162V|PCDH15_uc010qhy.1_Silent_p.V167V|PCDH15_uc010qhz.1_Silent_p.V162V|PCDH15_uc010qia.1_Silent_p.V140V|PCDH15_uc010qib.1_Silent_p.V140V|PCDH15_uc001jjw.2_Silent_p.V162V	p.V162V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			6	881	-		Melanoma(3;0.117)|Lung SC(717;0.238)	162			Extracellular (Potential).|Cadherin 2.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.486T>C	CCDS7248.1																																																																																				PASS	0.338	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		31	95	31	95	---	---	---	---
RTKN2	219790	broad.mit.edu	37	10	63983069	63983069	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:63983069C>A	ENST00000373789.3	-	7	805	c.709G>T	c.(709-711)Gct>Tct	p.A237S	RTKN2_ENST00000315289.2_Missense_Mutation_p.A18S|RTKN2_ENST00000395265.1_Missense_Mutation_p.A237S	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	237					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.A237S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTAGTGTGAGCTAGCAAATTA	0.299																																						uc001jlw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)GCT>TCT		rhotekin 2							120.0	119.0	119.0					10																	63983069		2203	4298	6501	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63983069C>A	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.709G>T	10.37:g.63983069C>A	ENSP00000362894:p.Ala237Ser					RTKN2_uc009xpf.1_Missense_Mutation_p.A18S	p.A237S	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			7	806	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		237					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.709G>T	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023345	0.93462	.	.	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.67865	-0.29;0.68;0.68	5.95	5.95	0.96441	.	0.047338	0.85682	D	0.000000	D	0.84356	0.5454	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.85217	0.1024	10	0.72032	D	0.01	-6.7479	19.9698	0.97280	0.0:1.0:0.0:0.0	.	18;237	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	S	18;237;237	ENSP00000325379:A18S;ENSP00000378682:A237S;ENSP00000362894:A237S	ENSP00000325379:A18S	A	-	1	0	RTKN2	63653075	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.290000	0.72712	2.817000	0.96982	0.563000	0.77884	GCT		PASS	0.299	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		5	69	5	69	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64943277	64943277	+	Silent	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:64943277T>C	ENST00000399262.2	-	22	7232	c.7014A>G	c.(7012-7014)gaA>gaG	p.E2338E	JMJD1C_ENST00000402544.1_Silent_p.E2101E|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Silent_p.E2156E	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2338	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.E2101E(1)|p.E2338E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATCAGAAACTTCAATATGGA	0.279																																						uc001jmn.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(7012-7014)GAA>GAG		jumonji domain containing 1C isoform a							96.0	97.0	97.0					10																	64943277		1819	4071	5890	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64943277T>C	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7014A>G	10.37:g.64943277T>C						JMJD1C_uc001jml.2_Silent_p.E2101E|JMJD1C_uc001jmm.2_Silent_p.E2050E|JMJD1C_uc010qiq.1_Silent_p.E2156E|JMJD1C_uc009xpi.2_Silent_p.E2156E|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Silent_p.E245E	p.E2338E	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			22	7314	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2338			JmjC.	Iron; catalytic (By similarity).	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.7014A>G	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	8.509	0.866000	0.17250	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.8	2.14	0.27477	.	.	.	.	.	T	0.53769	0.1817	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40776	-0.9545	4	.	.	.	-20.273	5.9166	0.19057	0.1232:0.1363:0.0:0.7405	.	.	.	.	R	885	.	.	K	-	2	0	JMJD1C	64613283	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.787000	0.26858	0.114000	0.18032	-0.456000	0.05471	AAG		PASS	0.279	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		29	70	29	70	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69926318	69926318	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:69926318C>T	ENST00000358913.5	+	10	2356	c.1868C>T	c.(1867-1869)aCc>aTc	p.T623I	MYPN_ENST00000354393.2_Missense_Mutation_p.T348I|MYPN_ENST00000540630.1_Missense_Mutation_p.T623I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	623					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.T623I(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACCAGACAGACCAGGCCCGAT	0.567																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1867-1869)ACC>ATC		myopalladin							78.0	69.0	72.0					10																	69926318		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69926318C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1868C>T	10.37:g.69926318C>T	ENSP00000351790:p.Thr623Ile					MYPN_uc001jnl.1_Missense_Mutation_p.T623I|MYPN_uc001jnn.3_Missense_Mutation_p.T348I|MYPN_uc001jno.3_Missense_Mutation_p.T623I|MYPN_uc009xps.2_Missense_Mutation_p.T623I|MYPN_uc009xpt.2_Missense_Mutation_p.T623I|MYPN_uc010qit.1_Missense_Mutation_p.T329I|MYPN_uc010qiu.1_RNA	p.T623I	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			11	2053	+			623					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1868C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	0.893	-0.724684	0.03158	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.58358	0.34;0.42;0.4	5.29	-3.86	0.04230	.	0.646682	0.15864	N	0.240886	T	0.23572	0.0570	N	0.16478	0.41	0.09310	N	0.999994	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.10291	-1.0636	9	.	.	.	.	1.1732	0.01829	0.2197:0.2659:0.1092:0.4052	.	623;348;623	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	I	348;348;623;623	ENSP00000346369:T348I;ENSP00000351790:T623I;ENSP00000441668:T623I	.	T	+	2	0	MYPN	69596324	0.019000	0.18553	0.217000	0.23759	0.020000	0.10135	-0.200000	0.09478	-0.582000	0.05929	-1.862000	0.00560	ACC		PASS	0.567	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		6	73	6	73	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69961673	69961673	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:69961673G>A	ENST00000358913.5	+	18	4069	c.3581G>A	c.(3580-3582)cGc>cAc	p.R1194H	MYPN_ENST00000354393.2_Missense_Mutation_p.R919H|MYPN_ENST00000540630.1_Missense_Mutation_p.R1194H	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1194	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.R1194H(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTGGAGTGCCGCGTGATAGGC	0.547																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(3580-3582)CGC>CAC		myopalladin							137.0	123.0	128.0					10																	69961673		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69961673G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3581G>A	10.37:g.69961673G>A	ENSP00000351790:p.Arg1194His					MYPN_uc001jnn.3_Missense_Mutation_p.R919H|MYPN_uc001jno.3_Missense_Mutation_p.R1194H|MYPN_uc009xpt.2_Missense_Mutation_p.R1194H|MYPN_uc010qit.1_Missense_Mutation_p.R900H|MYPN_uc010qiu.1_RNA	p.R1194H	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			19	3766	+			1194			Interaction with ACTN.|Ig-like 5.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.3581G>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482217	0.96307	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.67698	-0.28;-0.28;-0.28	5.22	5.22	0.72569	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.78470	0.4288	L	0.52206	1.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.997;0.999	T	0.76934	-0.2775	9	.	.	.	.	18.7819	0.91937	0.0:0.0:1.0:0.0	.	1194;919;1194	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	H	919;919;1194;1194	ENSP00000346369:R919H;ENSP00000351790:R1194H;ENSP00000441668:R1194H	.	R	+	2	0	MYPN	69631679	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	9.713000	0.98740	2.428000	0.82296	0.650000	0.86243	CGC		PASS	0.547	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		14	126	14	126	---	---	---	---
DDX21	9188	broad.mit.edu	37	10	70719870	70719870	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:70719870G>A	ENST00000354185.4	+	2	494	c.396G>A	c.(394-396)aaG>aaA	p.K132K		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	132					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.K132K(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCCCAAGAAGATGAAGAAAG	0.408																																						uc001jov.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(394-396)AAG>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 21							34.0	38.0	37.0					10																	70719870		2202	4300	6502	SO:0001819	synonymous_variant	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70719870G>A	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.396G>A	10.37:g.70719870G>A						DDX21_uc001jow.1_Silent_p.K64K	p.K132K	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN			2	486	+			132					B2RDL0|Q13436|Q5VX41|Q68D35	Silent	SNP	ENST00000354185.4	37	c.396G>A	CCDS31211.1																																																																																				PASS	0.408	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		16	57	16	57	---	---	---	---
SRGN	5552	broad.mit.edu	37	10	70863695	70863695	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:70863695G>T	ENST00000242465.3	+	3	336	c.296G>T	c.(295-297)gGc>gTc	p.G99V	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	99	9 X 2 AA tandem repeats of [SF]-G.				biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)		p.G99V(1)		large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						TCAGGCTTCGGCTCCGGCTCC	0.468																																						uc001joz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)GGC>GTC		serglycin precursor							75.0	69.0	71.0					10																	70863695		2203	4300	6503	SO:0001583	missense	5552				apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen		g.chr10:70863695G>T	BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"""Proteoglycans / Extracellular Matrix : Other"""	9361	protein-coding gene	gene with protein product	"""serglycin proteoglycan"""	177040	"""proteoglycan 1, secretory granule"""	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.296G>T	10.37:g.70863695G>T	ENSP00000242465:p.Gly99Val						p.G99V	NM_002727	NP_002718	P10124	SRGN_HUMAN			3	382	+			99			3.|9 X 2 AA tandem repeats of [SF]-G.		B2R4L7|Q5VW06	Missense_Mutation	SNP	ENST00000242465.3	37	c.296G>T	CCDS7285.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731865	0.48939	.	.	ENSG00000122862	ENST00000242465	T	0.60040	0.22	4.5	4.5	0.54988	.	0.551946	0.17338	N	0.177844	T	0.67496	0.2899	L	0.40543	1.245	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.68891	-0.5289	10	0.87932	D	0	-9.7059	12.9063	0.58154	0.0:0.0:1.0:0.0	.	99	P10124	SRGN_HUMAN	V	99	ENSP00000242465:G99V	ENSP00000242465:G99V	G	+	2	0	SRGN	70533701	0.990000	0.36364	0.990000	0.47175	0.188000	0.23474	3.783000	0.55409	2.505000	0.84491	0.561000	0.74099	GGC		PASS	0.468	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048379.1	NM_002727		7	49	7	49	---	---	---	---
TYSND1	219743	broad.mit.edu	37	10	71899758	71899758	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:71899758C>G	ENST00000287078.6	-	4	1622	c.1623G>C	c.(1621-1623)ctG>ctC	p.L541L	TYSND1_ENST00000335494.5_3'UTR|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	541					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)	p.L541L(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CAGCGCGGTCCAGCTCACGGA	0.652																																						uc001jqr.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1621-1623)CTG>CTC		trypsin domain containing 1 isoform a							79.0	76.0	77.0					10																	71899758		2203	4300	6503	SO:0001819	synonymous_variant	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71899758C>G	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1623G>C	10.37:g.71899758C>G						TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_3'UTR|TYSND1_uc001jqt.2_RNA	p.L541L	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN			4	1777	-			541					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Silent	SNP	ENST00000287078.6	37	c.1623G>C	CCDS31213.1																																																																																				PASS	0.652	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		9	59	9	59	---	---	---	---
SAR1A	56681	broad.mit.edu	37	10	71917543	71917543	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:71917543C>A	ENST00000373242.2	-	6	521	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	SAR1A_ENST00000373241.4_Missense_Mutation_p.V109L|SAR1A_ENST00000373238.1_Missense_Mutation_p.V109L|SAR1A_ENST00000431664.2_Missense_Mutation_p.V109L|SAR1A_ENST00000458634.2_Missense_Mutation_p.V66L|SAR1A_ENST00000373236.1_Missense_Mutation_p.V109L	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	109					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)	p.V109L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TTGGATTCCACGAGGCGAGAA	0.338																																						uc010qjh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GTG>TTG		SAR1a gene homolog 1							87.0	78.0	81.0					10																	71917543		2203	4300	6503	SO:0001583	missense	56681				ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	g.chr10:71917543C>A		CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.325G>T	10.37:g.71917543C>A	ENSP00000362339:p.Val109Leu					SAR1A_uc010qji.1_Missense_Mutation_p.V109L|SAR1A_uc010qjj.1_Missense_Mutation_p.V66L	p.V109L	NM_001142648	NP_001136120	Q9NR31	SAR1A_HUMAN			6	528	-			109					B4DQ19	Missense_Mutation	SNP	ENST00000373242.2	37	c.325G>T	CCDS7298.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655073	0.29425	.	.	ENSG00000079332	ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000452767;ENST00000373236	T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0	5.09	0.913	0.19354	Small GTP-binding protein domain (1);	0.514124	0.23005	N	0.053034	T	0.30603	0.0770	N	0.03917	-0.325	0.21897	N	0.999482	B	0.02656	0.0	B	0.01281	0.0	T	0.18967	-1.0320	10	0.14252	T	0.57	.	7.4402	0.27179	0.0:0.0853:0.3295:0.5852	.	109	Q9NR31	SAR1A_HUMAN	L	109;109;109;109;109;66;13;109	ENSP00000362338:V109L;ENSP00000362335:V109L;ENSP00000362339:V109L;ENSP00000399698:V109L;ENSP00000437979:V66L;ENSP00000362333:V109L	ENSP00000362333:V109L	V	-	1	0	SAR1A	71587549	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	0.224000	0.17738	0.343000	0.23821	-0.302000	0.09304	GTG		PASS	0.338	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048500.2			29	48	29	48	---	---	---	---
ADAMTS14	140766	broad.mit.edu	37	10	72503416	72503416	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:72503416C>G	ENST00000373207.1	+	13	2037	c.2037C>G	c.(2035-2037)gtC>gtG	p.V679V	ADAMTS14_ENST00000373208.1_Silent_p.V682V	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	679	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V682V(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CATACAGCGTCTGTGCGCGTG	0.657																																						uc001jrh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(2035-2037)GTC>GTG		ADAM metallopeptidase with thrombospondin type 1							88.0	64.0	72.0					10																	72503416		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72503416C>G	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2037C>G	10.37:g.72503416C>G						ADAMTS14_uc001jrg.2_Silent_p.V682V|ADAMTS14_uc001jri.1_Silent_p.V202V	p.V679V	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			13	2037	+			679			Cys-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.2037C>G	CCDS7306.1																																																																																				PASS	0.657	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		8	15	8	15	---	---	---	---
UNC5B	219699	broad.mit.edu	37	10	73046577	73046577	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:73046577G>C	ENST00000335350.6	+	5	1100	c.684G>C	c.(682-684)aaG>aaC	p.K228N	UNC5B_ENST00000373192.4_Missense_Mutation_p.K228N	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	228	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.K228N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCGTGGCCAAGAACATCGTGG	0.637																																						uc001jro.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(682-684)AAG>AAC		unc-5 homolog B precursor							209.0	193.0	198.0					10																	73046577		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73046577G>C	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.684G>C	10.37:g.73046577G>C	ENSP00000334329:p.Lys228Asn					UNC5B_uc001jrp.2_Missense_Mutation_p.K228N	p.K228N	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			5	1129	+			228			Ig-like C2-type.|Extracellular (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.684G>C	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045368	0.75846	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.68624	-0.34;-0.34	5.43	3.59	0.41128	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104828	0.64402	D	0.000005	T	0.77294	0.4109	M	0.74467	2.265	0.45295	D	0.998292	D;D	0.67145	0.996;0.994	P;P	0.61397	0.888;0.848	T	0.77127	-0.2702	10	0.49607	T	0.09	-27.199	11.8623	0.52474	0.1416:0.0:0.8584:0.0	.	228;228	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	N	228	ENSP00000334329:K228N;ENSP00000362288:K228N	ENSP00000334329:K228N	K	+	3	2	UNC5B	72716583	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.397000	0.34543	0.678000	0.31325	0.561000	0.74099	AAG		PASS	0.637	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		42	139	42	139	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73501524	73501524	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:73501524C>G	ENST00000224721.6	+	37	4711	c.4706C>G	c.(4705-4707)tCc>tGc	p.S1569C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1564	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.S1569C(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGTGTTCTGTCCTACTACATC	0.617																																						uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(4690-4692)TCC>TGC		cadherin-like 23 isoform 1 precursor							74.0	77.0	76.0					10																	73501524		2191	4279	6470	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73501524C>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4706C>G	10.37:g.73501524C>G	ENSP00000224721:p.Ser1569Cys					CDH23_uc001jsc.1_Missense_Mutation_p.S371C	p.S1564C	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			36	5068	+			1564			Cadherin 15.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.4691C>G		.	.	.	.	.	.	.	.	.	.	C	19.39	3.817893	0.71028	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.075238	0.56097	D	0.000039	D	0.83727	0.5317	M	0.86805	2.84	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.69142	0.962;0.926	D	0.86596	0.1863	9	0.56958	D	0.05	.	17.9997	0.89195	0.0:1.0:0.0:0.0	.	384;1564	E7ERT0;Q9H251	.;CAD23_HUMAN	C	1569;1564;1567;384	.	ENSP00000224721:S1569C	S	+	2	0	CDH23	73171530	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.745000	0.55119	2.251000	0.74343	0.561000	0.74099	TCC		PASS	0.617	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		11	27	11	27	---	---	---	---
CFAP70	118491	broad.mit.edu	37	10	75013743	75013743	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:75013743G>A	ENST00000310715.3	-	28	3476	c.3356C>T	c.(3355-3357)cCa>cTa	p.P1119L	TTC18_ENST00000355577.3_Missense_Mutation_p.P588L|DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000372945.3_5'Flank|RP11-152N13.5_ENST00000394864.2_RNA|RP11-152N13.5_ENST00000457147.1_RNA|TTC18_ENST00000340329.3_Missense_Mutation_p.P359L|MRPS16_ENST00000416782.2_5'Flank|TTC18_ENST00000401621.2_Missense_Mutation_p.P1119L|TTC18_ENST00000394865.1_Missense_Mutation_p.P1089L|MRPS16_ENST00000479005.1_5'Flank|TTC18_ENST00000493787.1_5'UTR|MRPS16_ENST00000372940.3_5'Flank|RP11-152N13.5_ENST00000457758.1_RNA	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		1119						extracellular vesicular exosome (GO:0070062)		p.P1119L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCAGAAAGATGGATTTCCAAA	0.448																																						uc009xrc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3355-3357)CCA>CTA		tetratricopeptide repeat domain 18							159.0	143.0	148.0					10																	75013743		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75013743G>A																												ENST00000310715.3:c.3356C>T	10.37:g.75013743G>A	ENSP00000310829:p.Pro1119Leu					TTC18_uc001jty.2_Missense_Mutation_p.P1119L|MRPS16_uc010qkh.1_5'Flank|MRPS16_uc001jts.1_5'Flank|MRPS16_uc001jtt.1_5'Flank|uc001jtu.1_RNA|TTC18_uc001jtv.3_Missense_Mutation_p.P223L|TTC18_uc001jtw.3_Missense_Mutation_p.P193L|TTC18_uc001jtx.2_Missense_Mutation_p.P470L	p.P1119L	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			28	3477	-	Prostate(51;0.0119)		1119					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.3356C>T	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336640	0.81801	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000433268;ENST00000394865	T;T;T;T;T	0.58797	0.55;0.55;0.51;0.31;0.69	5.13	5.13	0.70059	.	0.301431	0.31323	N	0.007845	T	0.77061	0.4075	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80207	-0.1478	10	0.87932	D	0	-0.7264	13.9465	0.64089	0.0:0.0:1.0:0.0	.	1119	Q5T0N1	TTC18_HUMAN	L	1119;1119;1119;359;583;496;1089	ENSP00000310829:P1119L;ENSP00000384479:P1119L;ENSP00000343650:P359L;ENSP00000409527:P496L;ENSP00000378334:P1089L	ENSP00000310829:P1119L	P	-	2	0	TTC18	74683749	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.042000	0.64202	2.663000	0.90544	0.655000	0.94253	CCA		PASS	0.448	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	96	7	96	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75550015	75550015	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:75550015G>T	ENST00000605216.1	+	7	1123	c.906G>T	c.(904-906)ctG>ctT	p.L302L	ZSWIM8_ENST00000603114.1_Silent_p.L302L|ZSWIM8_ENST00000604729.1_Silent_p.L302L|ZSWIM8_ENST00000604524.1_Silent_p.L302L|ZSWIM8_ENST00000398706.2_Silent_p.L302L	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	302							zinc ion binding (GO:0008270)	p.L302L(2)									AAAAGACACTGCACAAGTTCT	0.552																																						uc009xrl.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(904-906)CTG>CTT		hypothetical protein LOC23053							158.0	159.0	159.0					10																	75550015		2013	4183	6196	SO:0001819	synonymous_variant	23053						zinc ion binding	g.chr10:75550015G>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.906G>T	10.37:g.75550015G>T						KIAA0913_uc001jve.2_Silent_p.L302L|KIAA0913_uc001jvf.2_Silent_p.L302L|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank	p.L302L	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			7	938	+	Prostate(51;0.0112)		302					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37	c.906G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.036|6.036	0.375059|0.375059	0.11409|0.11409	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000451629	.|.	.|.	.|.	5.34|5.34	2.46|2.46	0.29980|0.29980	.|.	.|.	.|.	.|.	.|.	T|T	0.43700|0.43700	0.1259|0.1259	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27606|0.27606	-1.0069|-1.0069	4|4	.|.	.|.	.|.	-3.6601|-3.6601	1.7293|1.7293	0.02928|0.02928	0.2239:0.2106:0.4353:0.1302|0.2239:0.2106:0.4353:0.1302	.|.	.|.	.|.	.|.	S|F	25|105	.|.	.|.	A|C	+|+	1|2	0|0	KIAA0913|KIAA0913	75220021|75220021	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.982000|0.982000	0.71751|0.71751	1.003000|1.003000	0.29809|0.29809	0.379000|0.379000	0.24794|0.24794	0.655000|0.655000	0.94253|0.94253	GCA|TGC		PASS	0.552	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		10	182	10	182	---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79777381	79777381	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:79777381C>A	ENST00000372371.3	-	10	1520	c.1383G>T	c.(1381-1383)ctG>ctT	p.L461L	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	461					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.L461L(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCGATTGAACAGCACCACAT	0.438																																						uc001jzn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1381-1383)CTG>CTT		polymerase (RNA) III (DNA directed) polypeptide							149.0	132.0	138.0					10																	79777381		2203	4300	6503	SO:0001819	synonymous_variant	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79777381C>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1383G>T	10.37:g.79777381C>A							p.L461L	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		10	1477	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		461					Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	37	c.1383G>T	CCDS7354.1																																																																																				PASS	0.438	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		14	105	14	105	---	---	---	---
SFTPA1	653509	broad.mit.edu	37	10	81373497	81373497	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:81373497C>T	ENST00000398636.3	+	6	513	c.375C>T	c.(373-375)ctC>ctT	p.L125L	SFTPA1_ENST00000428376.2_Silent_p.L125L|SFTPA1_ENST00000372313.5_Silent_p.L66L|SFTPA1_ENST00000372308.3_Silent_p.L125L|SFTPA1_ENST00000419470.2_Silent_p.L140L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	125					lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)	p.L140L(1)		endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCTCAGCCCTCAGTCTGCAGG	0.562																																						uc001kap.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(373-375)CTC>CTT		surfactant protein A1 isoform 1							109.0	110.0	110.0					10																	81373497		2203	4294	6497	SO:0001819	synonymous_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81373497C>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.375C>T	10.37:g.81373497C>T						SFTPA1_uc001kaq.2_Silent_p.L125L|SFTPA1_uc009xry.2_Silent_p.L140L|SFTPA1_uc001kar.2_Silent_p.L125L|SFTPA1_uc010qlt.1_Silent_p.L66L|SFTPA1_uc009xrz.2_Silent_p.L55L|SFTPA1_uc009xsa.2_Silent_p.L125L|SFTPA1_uc009xsf.2_5'Flank	p.L125L	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	496	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		125					A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Silent	SNP	ENST00000398636.3	37	c.375C>T	CCDS44445.1																																																																																				PASS	0.562	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		65	173	65	173	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85968559	85968559	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:85968559G>C	ENST00000372117.3	+	12	1345	c.1242G>C	c.(1240-1242)ctG>ctC	p.L414L	CDHR1_ENST00000332904.3_Silent_p.L414L|CDHR1_ENST00000440770.2_Silent_p.L173L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.L414L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGACAGTCCTGAATGAAGCCC	0.478																																						uc001kcv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1240-1242)CTG>CTC		protocadherin 21 precursor							102.0	92.0	95.0					10																	85968559		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85968559G>C	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1242G>C	10.37:g.85968559G>C						CDHR1_uc001kcw.2_Silent_p.L414L|CDHR1_uc009xst.2_Silent_p.L173L	p.L414L	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			12	1242	+			414			Cadherin 4.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.1242G>C	CCDS7372.1																																																																																				PASS	0.478	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		7	29	7	29	---	---	---	---
FFAR4	338557	broad.mit.edu	37	10	95347066	95347066	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:95347066C>G	ENST00000371483.4	+	4	890	c.834C>G	c.(832-834)ctC>ctG	p.L278L	FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Silent_p.L262L	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	278					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)	p.L278L(1)|p.F279delF(1)									ACTTCCGGCTCTTCCGCACCC	0.552																																						uc010qnt.1																			2	Substitution - coding silent(1)|Deletion - In frame(1)		lung(1)|kidney(1)		0						c.(832-834)CTC>CTG		G protein-coupled receptor 120							139.0	128.0	132.0					10																	95347066		2203	4300	6503	SO:0001819	synonymous_variant	338557				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	g.chr10:95347066C>G		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.834C>G	10.37:g.95347066C>G						GPR120_uc010qnu.1_Silent_p.L262L	p.L278L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN			4	890	+		Colorectal(252;0.122)	278			Cytoplasmic (Potential).		Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	c.834C>G	CCDS31248.1																																																																																				PASS	0.552	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		26	35	26	35	---	---	---	---
ARHGAP19	84986	broad.mit.edu	37	10	99003889	99003889	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:99003889G>A	ENST00000358531.4	-	8	1049	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ARHGAP19_ENST00000355366.5_Missense_Mutation_p.H332Y|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.H312Y|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.H341Y|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.H332Y|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.H341Y|ARHGAP19_ENST00000487035.1_5'UTR	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	341					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.H160Y(1)|p.H341Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		GACTTAGTATGACATGAAGCT	0.443																																						uc001knb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1021-1023)CAT>TAT		Rho GTPase activating protein 19							87.0	87.0	87.0					10																	99003889		2203	4300	6503	SO:0001583	missense	84986				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity	g.chr10:99003889G>A	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.1021C>T	10.37:g.99003889G>A	ENSP00000351333:p.His341Tyr					ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.H332Y|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.H312Y|ARHGAP19_uc009xvk.2_Missense_Mutation_p.H135Y	p.H341Y	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)	8	1050	-		Colorectal(252;0.0854)	341					A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	c.1021C>T	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361046	0.24684	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.09630	3.17;3.19;3.19;3.19;3.19;2.96	5.82	1.58	0.23477	.	1.688210	0.03756	U	0.257412	T	0.11537	0.0281	L	0.40543	1.245	0.09310	N	1	B;B;B	0.24618	0.107;0.059;0.098	B;B;B	0.30646	0.079;0.034;0.118	T	0.36962	-0.9726	10	0.52906	T	0.07	-0.0084	3.8994	0.09154	0.08:0.3644:0.331:0.2245	.	312;341;332	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	Y	341;341;332;341;332;160;312	ENSP00000414774:H341Y;ENSP00000324468:H341Y;ENSP00000347526:H332Y;ENSP00000351333:H341Y;ENSP00000360066:H332Y;ENSP00000351058:H312Y	ENSP00000324468:H341Y	H	-	1	0	ARHGAP19	98993879	0.010000	0.17322	0.268000	0.24571	0.933000	0.57130	1.237000	0.32695	0.781000	0.33589	0.655000	0.94253	CAT		PASS	0.443	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		10	34	10	34	---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101656026	101656026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:101656026G>A	ENST00000324109.4	-	10	3140	c.3049C>T	c.(3049-3051)Cag>Tag	p.Q1017*	DNMBP_ENST00000342239.3_Nonsense_Mutation_p.Q1041*|DNMBP_ENST00000543621.1_Nonsense_Mutation_p.Q263*|DNMBP_ENST00000540316.1_Intron	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1017	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1017*(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GATCTCACCTGAGGAGCAAAG	0.502																																						uc001kqj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(1)	6						c.(3049-3051)CAG>TAG		dynamin binding protein							146.0	118.0	127.0					10																	101656026		2203	4300	6503	SO:0001587	stop_gained	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101656026G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3049C>T	10.37:g.101656026G>A	ENSP00000315659:p.Gln1017*					DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Nonsense_Mutation_p.Q305*|DNMBP_uc001kqh.2_Nonsense_Mutation_p.Q649*	p.Q1017*	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	10	3141	-		Colorectal(252;0.234)	1017			BAR.		Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	ENST00000324109.4	37	c.3049C>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	47	13.598413	0.99752	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	.	.	.	5.48	4.57	0.56435	.	0.144262	0.32343	N	0.006224	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-19.6702	15.2799	0.73773	0.0:0.0:0.8584:0.1416	.	.	.	.	X	1041;1017;263;263	.	ENSP00000315659:Q1017X	Q	-	1	0	DNMBP	101646016	1.000000	0.71417	0.873000	0.34254	0.012000	0.07955	9.844000	0.99494	1.298000	0.44778	-0.314000	0.08810	CAG		PASS	0.502	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		10	9	10	9	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115986958	115986958	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:115986958G>T	ENST00000251864.2	+	23	3456	c.3303G>T	c.(3301-3303)gaG>gaT	p.E1101D	TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.E987D|TDRD1_ENST00000369282.1_Intron|TDRD1_ENST00000369280.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1101					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.E1101D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTCAGTTGAGAAATGTTCTG	0.348																																						uc001lbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3301-3303)GAG>GAT		tudor domain containing 1							137.0	124.0	128.0					10																	115986958		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115986958G>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000251864.2:c.3303G>T	10.37:g.115986958G>T	ENSP00000251864:p.Glu1101Asp					TDRD1_uc001lbf.2_Missense_Mutation_p.E978D|TDRD1_uc001lbh.1_Missense_Mutation_p.E1088D|TDRD1_uc001lbi.1_Missense_Mutation_p.E1092D|TDRD1_uc010qsc.1_Intron|TDRD1_uc001lbj.2_Missense_Mutation_p.E810D	p.E1101D	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	23	3456	+		Colorectal(252;0.172)|Breast(234;0.188)	1101					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000251864.2	37	c.3303G>T	CCDS7588.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878643	0.51801	.	.	ENSG00000095627	ENST00000251864;ENST00000369281	T;T	0.18960	3.04;2.18	6.07	3.12	0.35913	.	0.521490	0.18693	N	0.133798	T	0.26702	0.0653	M	0.62723	1.935	0.80722	D	1	P;P;P;P	0.52316	0.799;0.919;0.873;0.952	B;B;P;P	0.50860	0.214;0.395;0.461;0.652	T	0.03576	-1.1023	10	0.25751	T	0.34	-9.6409	6.573	0.22549	0.1526:0.0:0.7047:0.1426	.	1101;987;1101;987	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	D	1101;987	ENSP00000251864:E1101D;ENSP00000358287:E987D	ENSP00000251864:E1101D	E	+	3	2	TDRD1	115976948	1.000000	0.71417	0.992000	0.48379	0.644000	0.38419	0.747000	0.26290	0.846000	0.35142	0.650000	0.86243	GAG		PASS	0.348	TDRD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	31	12	31	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	116919865	116919865	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:116919865C>A	ENST00000355044.3	+	6	1020	c.894C>A	c.(892-894)ccC>ccA	p.P298P	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Silent_p.P298P	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	298					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.P298P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACGTTAAACCCTTCAGTCCTT	0.363																																						uc001lcg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(892-894)CCC>CCA		attractin-like 1 precursor							197.0	204.0	202.0					10																	116919865		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:116919865C>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.894C>A	10.37:g.116919865C>A						ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Silent_p.P298P|ATRNL1_uc009xyq.2_Silent_p.P298P	p.P298P	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	6	1280	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	298			Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.894C>A	CCDS7592.1																																																																																				PASS	0.363	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		20	58	20	58	---	---	---	---
CCDC172	374355	broad.mit.edu	37	10	118101703	118101703	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:118101703G>C	ENST00000333254.3	+	5	689	c.438G>C	c.(436-438)atG>atC	p.M146I	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	146								p.M146I(1)									AAGCAAACATGTTGAAAAGTG	0.254																																						uc001lck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(436-438)ATG>ATC		hypothetical protein LOC374355							46.0	50.0	48.0					10																	118101703		2195	4262	6457	SO:0001583	missense	374355							g.chr10:118101703G>C	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.438G>C	10.37:g.118101703G>C	ENSP00000329860:p.Met146Ile						p.M146I	NM_198515	NP_940917	P0C7W6	CJ096_HUMAN		all cancers(201;0.014)	5	689	+		Lung NSC(174;0.204)|all_lung(145;0.248)	146			Potential.			Missense_Mutation	SNP	ENST00000333254.3	37	c.438G>C	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	0.492	-0.874774	0.02550	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	3.05	0.35203	.	1.108010	0.06674	N	0.766811	T	0.07908	0.0198	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31420	-0.9944	9	0.16896	T	0.51	-11.7112	3.6468	0.08188	0.1168:0.071:0.2696:0.5426	.	146	P0C7W6	CJ096_HUMAN	I	146	.	ENSP00000329860:M146I	M	+	3	0	C10orf96	118091693	0.983000	0.35010	0.636000	0.29352	0.861000	0.49209	1.560000	0.36331	0.436000	0.26393	-0.264000	0.10439	ATG		PASS	0.254	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		6	29	6	29	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118220751	118220751	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:118220751G>A	ENST00000369230.3	+	7	903	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	253					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.E253K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GCCAGGATGTGAAGACTTAAT	0.353																																						uc001lcl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(757-759)GAA>AAA		pancreatic lipase-related protein 3 precursor							146.0	139.0	141.0					10																	118220751		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118220751G>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.757G>A	10.37:g.118220751G>A	ENSP00000358232:p.Glu253Lys						p.E253K	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	7	858	+			253						Missense_Mutation	SNP	ENST00000369230.3	37	c.757G>A	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	0.920	-0.716092	0.03206	.	.	ENSG00000203837	ENST00000369230	D	0.89875	-2.58	4.93	-4.52	0.03472	Lipase, N-terminal (1);	1.653320	0.03376	N	0.199709	T	0.72843	0.3511	N	0.10645	0.015	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.69239	-0.5197	10	0.02654	T	1	.	8.2732	0.31857	0.3313:0.4813:0.1874:0.0	.	253	Q17RR3	LIPR3_HUMAN	K	253	ENSP00000358232:E253K	ENSP00000358232:E253K	E	+	1	0	PNLIPRP3	118210741	0.003000	0.15002	0.003000	0.11579	0.545000	0.35147	-0.145000	0.10265	-0.734000	0.04843	-0.274000	0.10170	GAA		PASS	0.353	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		31	14	31	14	---	---	---	---
PPAPDC1A	196051	broad.mit.edu	37	10	122273500	122273500	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:122273500G>T	ENST00000398250.1	+	3	595	c.243G>T	c.(241-243)aaG>aaT	p.K81N	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.K71N|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.K81N|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.K81N	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	81					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.K81N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTGAAATTAAGGAAGCCTTCT	0.408																																						uc001lev.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(241-243)AAG>AAT		phosphatidic acid phosphatase type 2 domain							153.0	140.0	144.0					10																	122273500		1846	4093	5939	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122273500G>T	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.243G>T	10.37:g.122273500G>T	ENSP00000381302:p.Lys81Asn					PPAPDC1A_uc010qtd.1_Missense_Mutation_p.K81N|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.K81N|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Translation_Start_Site	p.K81N	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	3	595	+		Lung NSC(174;0.1)|all_lung(145;0.132)	81					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.243G>T	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470805	0.63625	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.73	3.49	0.39957	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.62723	1.935	0.80722	D	1	P;D;B	0.89917	0.804;1.0;0.006	P;D;B	0.87578	0.449;0.998;0.008	T	0.74999	-0.3472	10	0.13470	T	0.59	-0.008	4.7619	0.13111	0.4095:0.0:0.5904:0.0	.	81;81;81	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	N	81;81;81;81;71	ENSP00000381302:K81N;ENSP00000407979:K81N;ENSP00000440493:K81N;ENSP00000358069:K71N	ENSP00000358069:K71N	K	+	3	2	PPAPDC1A	122263490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.555000	0.53727	1.540000	0.49301	0.557000	0.71058	AAG		PASS	0.408	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		30	44	30	44	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123846008	123846008	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:123846008G>A	ENST00000369005.1	+	4	4333	c.3993G>A	c.(3991-3993)cgG>cgA	p.R1331R	TACC2_ENST00000515603.1_Silent_p.R1331R|TACC2_ENST00000453444.2_Silent_p.R1331R|TACC2_ENST00000515273.1_Silent_p.R1331R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.R1331R	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1331					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.R1331R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCTGGACCGGATGCCACTTC	0.617																																						uc001lfv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3991-3993)CGG>CGA		transforming, acidic coiled-coil containing							71.0	57.0	62.0					10																	123846008		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846008G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3993G>A	10.37:g.123846008G>A						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.R1331R|TACC2_uc010qtv.1_Silent_p.R1331R	p.R1331R	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	4353	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1331					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.3993G>A	CCDS7626.1																																																																																				PASS	0.617	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			6	31	6	31	---	---	---	---
GPR26	2849	broad.mit.edu	37	10	125447671	125447671	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:125447671G>C	ENST00000284674.1	+	3	1062	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	337					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E337Q(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCCGGTGTCTGAGTGAAGGAC	0.607																																						uc001lhh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1009-1011)GAG>CAG		G protein-coupled receptor 26							35.0	32.0	33.0					10																	125447671		2203	4300	6503	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125447671G>C		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.1009G>C	10.37:g.125447671G>C	ENSP00000284674:p.Glu337Gln						p.E337Q	NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN			3	1062	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	337			Cytoplasmic (Potential).		Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.1009G>C	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777811	0.90195	.	.	ENSG00000154478	ENST00000284674	T	0.67171	-0.25	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	L	0.43152	1.355	0.46849	D	0.99922	P	0.44578	0.838	B	0.41813	0.367	T	0.65627	-0.6122	10	0.45353	T	0.12	.	19.5704	0.95409	0.0:0.0:1.0:0.0	.	337	Q8NDV2	GPR26_HUMAN	Q	337	ENSP00000284674:E337Q	ENSP00000284674:E337Q	E	+	1	0	GPR26	125437661	1.000000	0.71417	0.956000	0.39512	0.907000	0.53573	7.346000	0.79347	2.603000	0.88011	0.585000	0.79938	GAG		PASS	0.607	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			12	8	12	8	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128150051	128150052	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:128150051_128150052GG>TT	ENST00000284694.7	-	5	1757_1758	c.1637_1638CC>AA	c.(1636-1638)cCC>cAA	p.P546Q	C10orf90_ENST00000454341.1_Missense_Mutation_p.P449Q|C10orf90_ENST00000356858.3_Missense_Mutation_p.P499Q|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.P643Q	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	546					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.P546H(1)|p.P546P(1)|p.P546Q(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)		CTCCATCGCGGGGTGCTGGCGA	0.545																																						uc001ljq.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(1636-1638)CCC>CCA|c.(1636-1638)CCC>CAC		hypothetical protein LOC118611																																				SO:0001583	missense	118611							g.chr10:128150051G>T|g.chr10:128150052G>T	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.1637_1638delinsTT	10.37:g.128150051_128150052delinsTT	ENSP00000284694:p.Pro546Gln					C10orf90_uc001ljp.2_Silent_p.P402P|C10orf90_uc010qum.1_Silent_p.P643P|C10orf90_uc001ljo.2_RNA|C10orf90_uc001ljp.2_Missense_Mutation_p.P402H|C10orf90_uc010qum.1_Missense_Mutation_p.P643H|C10orf90_uc001ljo.2_RNA	p.P546P|p.P546H	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	5	1759|1758	-		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)	546					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent|Missense_Mutation	SNP	ENST00000284694.7	37	c.1638C>A|c.1637C>A	CCDS31310.1																																																																																				PASS	0.545	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		13	11	13	11	---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	129201358	129201358	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:129201358G>A	ENST00000280333.6	+	39	4013	c.3904G>A	c.(3904-3906)Gag>Aag	p.E1302K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1302	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E1302K(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGAGCTAGCCGAGCAGTATGA	0.423																																						uc001ljt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(3904-3906)GAG>AAG		dedicator of cytokinesis 1							74.0	77.0	76.0					10																	129201358		1857	4105	5962	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129201358G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3904G>A	10.37:g.129201358G>A	ENSP00000280333:p.Glu1302Lys					DOCK1_uc010qun.1_Missense_Mutation_p.E1323K|DOCK1_uc009yaq.2_Missense_Mutation_p.E297K	p.E1302K	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	39	3968	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1302			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.3904G>A		.	.	.	.	.	.	.	.	.	.	G	15.53	2.861878	0.51482	.	.	ENSG00000150760	ENST00000280333	T	0.01705	4.68	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.02533	0.0077	L	0.35854	1.095	0.58432	D	0.999999	B;D;B	0.63880	0.012;0.993;0.055	B;B;B	0.42882	0.005;0.401;0.012	T	0.69038	-0.5251	10	0.29301	T	0.29	.	18.2089	0.89864	0.0:0.0:1.0:0.0	.	1302;1368;1302	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	K	1302	ENSP00000280333:E1302K	ENSP00000280333:E1302K	E	+	1	0	DOCK1	129091348	1.000000	0.71417	0.604000	0.28916	0.927000	0.56198	4.840000	0.62817	2.595000	0.87683	0.655000	0.94253	GAG		PASS	0.423	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		5	12	5	12	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1261425	1261425	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:1261425G>A	ENST00000529681.1	+	30	3848	c.3790G>A	c.(3790-3792)Gag>Aag	p.E1264K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.E1267K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1264					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.E1267K(1)|p.E1264K(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCACCTATGAGGACAGGAC	0.647																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(5869-5871)GAG>AAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							35.0	41.0	39.0					11																	1261425		2136	4248	6384	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1261425G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3790G>A	11.37:g.1261425G>A	ENSP00000436812:p.Glu1264Lys					MUC5B_uc001ltb.2_Missense_Mutation_p.E1267K|MUC5B_uc001lta.2_Missense_Mutation_p.E932K	p.E1957K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	46	5995	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1264					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5869G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	12.93	2.086500	0.36855	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17528	2.27;2.47	4.76	2.67	0.31697	.	.	.	.	.	T	0.19725	0.0474	M	0.66297	2.02	0.30139	N	0.804108	P;P	0.39480	0.675;0.675	B;B	0.40134	0.32;0.32	T	0.15178	-1.0446	9	0.87932	D	0	.	6.65	0.22957	0.1605:0.1481:0.6914:0.0	.	1957;1267	A7Y9J9;E9PBJ0	.;.	K	1264;1267;1265;1334	ENSP00000436812:E1264K;ENSP00000415793:E1267K	ENSP00000343037:E1265K	E	+	1	0	MUC5B	1218001	0.935000	0.31712	0.950000	0.38849	0.597000	0.36814	1.053000	0.30442	2.203000	0.70933	0.457000	0.33378	GAG		PASS	0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	13	10	13	---	---	---	---
KCNQ1	3784	broad.mit.edu	37	11	2604670	2604670	+	Silent	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:2604670A>T	ENST00000155840.5	+	7	1035	c.927A>T	c.(925-927)acA>acT	p.T309T	KCNQ1_ENST00000335475.5_Silent_p.T182T	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	309			T -> R (in LQT1).		atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.T309T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGCAGGTCACAGTCACCACCA	0.612																																						uc001lwn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(925-927)ACA>ACT		potassium voltage-gated channel, KQT-like	Bepridil(DB01244)|Indapamide(DB00808)						174.0	143.0	154.0					11																	2604670		2202	4299	6501	SO:0001819	synonymous_variant	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2604670A>T	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.927A>T	11.37:g.2604670A>T						KCNQ1_uc009ydp.1_Silent_p.T93T|KCNQ1_uc001lwo.2_Silent_p.T182T	p.T309T	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	7	1035	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	309		T -> R (in LQT1).			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	37	c.927A>T	CCDS7736.1																																																																																				PASS	0.612	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		5	27	5	27	---	---	---	---
OR52I2	143502	broad.mit.edu	37	11	4608328	4608328	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:4608328C>T	ENST00000312614.4	+	1	308	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L96L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGTGTGTTCTGGCTGCTGT	0.493																																						uc010qyh.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(286-288)CTG>TTG		olfactory receptor, family 52, subfamily I,							268.0	265.0	266.0					11																	4608328		2201	4298	6499	SO:0001819	synonymous_variant	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608328C>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.286C>T	11.37:g.4608328C>T							p.L96L	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	286	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	96			Helical; Name=2; (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	c.286C>T	CCDS31355.1																																																																																				PASS	0.493	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		19	125	19	125	---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4869826	4869826	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:4869826A>G	ENST00000322101.2	-	1	688	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y205H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATAGGCTGTAGGCTGCACCC	0.537																																						uc010qyo.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(613-615)TAC>CAC		olfactory receptor, family 51, subfamily S,							77.0	83.0	81.0					11																	4869826		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869826A>G	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.613T>C	11.37:g.4869826A>G	ENSP00000322754:p.Tyr205His						p.Y205H	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	613	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	205			Helical; Name=5; (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.613T>C	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834028	0.32421	.	.	ENSG00000176922	ENST00000322101	T	0.47869	0.83	5.25	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	D	0.000824	T	0.71400	0.3335	M	0.90483	3.12	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.65878	-0.6061	10	0.87932	D	0	-14.3767	10.6032	0.45379	0.8559:0.0:0.0:0.144	.	205	Q8NGJ8	O51S1_HUMAN	H	205	ENSP00000322754:Y205H	ENSP00000322754:Y205H	Y	-	1	0	OR51S1	4826402	0.000000	0.05858	0.040000	0.18447	0.345000	0.29048	1.051000	0.30417	0.992000	0.38840	0.533000	0.62120	TAC		PASS	0.537	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		17	38	17	38	---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4869963	4869963	+	Missense_Mutation	SNP	C	C	T	rs538018962		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:4869963C>T	ENST00000322101.2	-	1	551	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R159Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCAGGCATCGAAAAGAAAT	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19156	0.0		0.0	False		,,,				2504	0.0					uc010qyo.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(475-477)CGA>CAA		olfactory receptor, family 51, subfamily S,							100.0	101.0	101.0					11																	4869963		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869963C>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.476G>A	11.37:g.4869963C>T	ENSP00000322754:p.Arg159Gln						p.R159Q	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	476	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	159			Helical; Name=4; (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.476G>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779276	0.31502	.	.	ENSG00000176922	ENST00000322101	T	0.71817	-0.6	5.25	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.197509	0.24917	N	0.034572	T	0.69655	0.3135	M	0.85945	2.785	0.26804	N	0.969143	P	0.38827	0.649	B	0.29598	0.104	T	0.69822	-0.5041	10	0.87932	D	0	-1.1434	12.719	0.57131	0.0:0.9205:0.0:0.0795	.	159	Q8NGJ8	O51S1_HUMAN	Q	159	ENSP00000322754:R159Q	ENSP00000322754:R159Q	R	-	2	0	OR51S1	4826539	0.004000	0.15560	0.927000	0.36925	0.308000	0.27856	2.123000	0.41996	1.455000	0.47813	0.655000	0.94253	CGA		PASS	0.542	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		9	50	9	50	---	---	---	---
HBB	3043	broad.mit.edu	37	11	5246869	5246869	+	Missense_Mutation	SNP	C	C	A	rs281864904		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:5246869C>A	ENST00000335295.4	-	3	452	c.403G>T	c.(403-405)Gtg>Ttg	p.V135L	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	135			V -> E (in North Shore-Caracas; unstable). {ECO:0000269|PubMed:891976}.		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.V135L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	ACACCAGCCACCACTTTCTGA	0.517									Sickle Cell Trait																													uc001mae.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(403-405)GTG>TTG		beta globin	Iron Dextran(DB00893)						108.0	100.0	103.0					11																	5246869		2201	4298	6499	SO:0001583	missense	3043	Sickle_Cell_Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5246869C>A	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.403G>T	11.37:g.5246869C>A	ENSP00000333994:p.Val135Leu						p.V135L	NM_000518	NP_000509	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	453	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	135		V -> E (in North Shore-Caracas; unstable).			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	c.403G>T	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.165024	0.57476	.	.	ENSG00000244734	ENST00000335295	D	0.92545	-3.06	4.68	3.77	0.43336	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.85682	0.5753	L	0.31804	0.96	0.33938	D	0.642851	B	0.12013	0.005	B	0.10450	0.005	D	0.85123	0.0970	9	0.87932	D	0	-10.0682	7.1297	0.25493	0.0:0.8013:0.0:0.1987	.	135	P68871	HBB_HUMAN	L	135	ENSP00000333994:V135L	ENSP00000333994:V135L	V	-	1	0	HBB	5203445	0.920000	0.31207	0.947000	0.38551	0.992000	0.81027	0.569000	0.23638	1.330000	0.45394	0.555000	0.69702	GTG		PASS	0.517	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		9	24	9	24	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529375	5529375	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:5529375G>T	ENST00000311659.4	-	2	1561	c.1414C>A	c.(1414-1416)Cct>Act	p.P472T	HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	472								p.P472T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGCTCAGGGATTCCAGGA	0.542																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1414-1416)CCT>ACT		ubiquilin 3							56.0	64.0	61.0					11																	5529375		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529375G>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1414C>A	11.37:g.5529375G>T	ENSP00000347997:p.Pro472Thr					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	p.P472T	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1500	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	472					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1414C>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910190	0.17833	.	.	ENSG00000175520	ENST00000311659	T	0.35236	1.32	4.98	3.04	0.35103	.	0.365686	0.19936	N	0.102749	T	0.39145	0.1067	M	0.76838	2.35	0.27304	N	0.957489	P	0.46457	0.878	P	0.44673	0.457	T	0.23691	-1.0181	10	0.23891	T	0.37	-3.0885	7.6357	0.28266	0.1686:0.0:0.8314:0.0	.	472	Q9H347	UBQL3_HUMAN	T	472	ENSP00000347997:P472T	ENSP00000347997:P472T	P	-	1	0	UBQLN3	5485951	0.996000	0.38824	0.570000	0.28473	0.693000	0.40251	2.161000	0.42358	0.628000	0.30357	-0.302000	0.09304	CCT		PASS	0.542	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		11	27	11	27	---	---	---	---
OR2D3	120775	broad.mit.edu	37	11	6942862	6942862	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:6942862C>A	ENST00000317834.3	+	1	658	c.630C>A	c.(628-630)agC>agA	p.S210R		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S210R(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACACTTACAGCACAGAAATGG	0.453																																						uc010rav.1																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)AGC>AGA		olfactory receptor, family 2, subfamily D,							116.0	97.0	103.0					11																	6942862		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942862C>A	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.630C>A	11.37:g.6942862C>A	ENSP00000320560:p.Ser210Arg						p.S210R	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	630	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	210			Extracellular (Potential).		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.630C>A	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	C	1.421	-0.572968	0.03882	.	.	ENSG00000178358	ENST00000317834	T	0.00130	8.69	5.17	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.118408	0.38326	N	0.001736	T	0.00073	0.0002	N	0.11313	0.125	0.21147	N	0.999775	B	0.02656	0.0	B	0.04013	0.001	T	0.04294	-1.0962	10	0.18276	T	0.48	0.0049	5.4522	0.16570	0.1395:0.6265:0.1545:0.0795	.	210	Q8NGH3	OR2D3_HUMAN	R	210	ENSP00000320560:S210R	ENSP00000320560:S210R	S	+	3	2	OR2D3	6899438	0.000000	0.05858	0.992000	0.48379	0.191000	0.23601	-0.522000	0.06237	0.410000	0.25675	0.655000	0.94253	AGC		PASS	0.453	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		11	15	11	15	---	---	---	---
ZNF215	7762	broad.mit.edu	37	11	6977732	6977732	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:6977732T>A	ENST00000278319.5	+	7	2112	c.1524T>A	c.(1522-1524)caT>caA	p.H508Q	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.H508Q	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	508					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H508Q(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTGTTAAACATCAAAAACTGC	0.358																																						uc001mey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1522-1524)CAT>CAA		zinc finger protein 215							51.0	54.0	53.0					11																	6977732		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977732T>A	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1524T>A	11.37:g.6977732T>A	ENSP00000278319:p.His508Gln					ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.H270Q|ZNF215_uc001mez.1_Intron	p.H508Q	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	2112	+			508			C2H2-type 4.		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1524T>A	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.300876	0.40694	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.60797	0.16;0.16	4.65	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000486	T	0.79581	0.4470	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78568	-0.2154	10	0.87932	D	0	-8.9016	7.6484	0.28334	0.0:0.6578:0.0:0.3422	.	508	Q9UL58	ZN215_HUMAN	Q	508	ENSP00000278319:H508Q;ENSP00000393202:H508Q	ENSP00000278319:H508Q	H	+	3	2	ZNF215	6934308	0.021000	0.18746	0.998000	0.56505	0.214000	0.24535	-0.371000	0.07513	0.164000	0.19529	0.477000	0.44152	CAT		PASS	0.358	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			13	29	13	29	---	---	---	---
ZNF215	7762	broad.mit.edu	37	11	6977739	6977739	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:6977739C>A	ENST00000278319.5	+	7	2119	c.1531C>A	c.(1531-1533)Ctg>Atg	p.L511M	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.L511M	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	511					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L511M(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ACATCAAAAACTGCATACTCG	0.338																																						uc001mey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1531-1533)CTG>ATG		zinc finger protein 215							50.0	52.0	51.0					11																	6977739		2200	4296	6496	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977739C>A	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1531C>A	11.37:g.6977739C>A	ENSP00000278319:p.Leu511Met					ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.L273M|ZNF215_uc001mez.1_Intron	p.L511M	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	2119	+			511			C2H2-type 4.		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1531C>A	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	8.036	0.762917	0.15914	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.29917	1.55;1.55	4.65	-2.95	0.05564	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.920021	0.08944	N	0.871136	T	0.29817	0.0745	L	0.37561	1.115	0.09310	N	0.999999	P	0.50369	0.934	P	0.52758	0.708	T	0.29366	-1.0014	10	0.72032	D	0.01	-0.0779	4.7982	0.13282	0.5911:0.2087:0.1185:0.0818	.	511	Q9UL58	ZN215_HUMAN	M	511	ENSP00000278319:L511M;ENSP00000393202:L511M	ENSP00000278319:L511M	L	+	1	2	ZNF215	6934315	0.000000	0.05858	0.474000	0.27266	0.104000	0.19210	0.030000	0.13688	-0.270000	0.09285	0.585000	0.79938	CTG		PASS	0.338	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			15	25	15	25	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7059931	7059932	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:7059931_7059932GG>TT	ENST00000299481.4	+	2	460_461	c.114_115GG>TT	c.(112-117)atGGaa>atTTaa	p.38_39ME>I*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	38	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.M38I(2)|p.M38_E39>I*(1)|p.E39*(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGGAGACCATGGAACCTGAGCA	0.436																																						uc001mfb.1																			4	Substitution - Missense(2)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(4)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(112-114)ATG>ATT|c.(115-117)GAA>TAA		NLR family, pyrin domain containing 14																																				SO:0001587	stop_gained	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7059931G>T|g.chr11:7059932G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		Exception_encountered	11.37:g.7059931_7059932delinsTT	ENSP00000299481:p.M38_E39delinsI*						p.M38I|p.E39*	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	437|438	+			38|39			DAPIN.		Q7RTR6	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000299481.4	37	c.114G>T|c.115G>T	CCDS7776.1																																																																																				PASS	0.436	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		9	45|46	9	45	---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7817698	7817698	+	Silent	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:7817698A>T	ENST00000329434.2	-	1	822	c.792T>A	c.(790-792)acT>acA	p.T264T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T264T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTTCTGGTCAGTTGAGTAGC	0.488																																						uc001mfp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(790-792)ACT>ACA		olfactory receptor, family 5, subfamily P,							126.0	130.0	129.0					11																	7817698		2110	4292	6402	SO:0001819	synonymous_variant	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7817698A>T	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.792T>A	11.37:g.7817698A>T							p.T264T	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	792	-			264			Extracellular (Potential).		Q3MIS8	Silent	SNP	ENST00000329434.2	37	c.792T>A	CCDS7782.1																																																																																				PASS	0.488	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		9	55	9	55	---	---	---	---
ST5	6764	broad.mit.edu	37	11	8737282	8737282	+	Missense_Mutation	SNP	C	C	A	rs139182184		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:8737282C>A	ENST00000534127.1	-	9	2098	c.1713G>T	c.(1711-1713)aaG>aaT	p.K571N	ST5_ENST00000526757.1_Missense_Mutation_p.K151N|ST5_ENST00000313726.6_Missense_Mutation_p.K571N|ST5_ENST00000530991.1_Missense_Mutation_p.K43N|ST5_ENST00000526099.1_Missense_Mutation_p.K84N|ST5_ENST00000530438.1_Missense_Mutation_p.K151N|ST5_ENST00000357665.1_Missense_Mutation_p.K571N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	571					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K571N(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCTGTGCCTCTTGGGTAATC	0.617																																						uc001mgt.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1711-1713)AAG>AAT		suppression of tumorigenicity 5 isoform 1							106.0	90.0	96.0					11																	8737282		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737282C>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1713G>T	11.37:g.8737282C>A	ENSP00000433528:p.Lys571Asn					ST5_uc009yfr.2_Missense_Mutation_p.K151N|ST5_uc001mgu.2_Missense_Mutation_p.K151N|ST5_uc001mgv.2_Missense_Mutation_p.K571N|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.K84N	p.K571N	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1899	-			571					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1713G>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902517	0.72754	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060;ENST00000526057	T;T;T;T;T;T;T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91;2.91	5.6	0.593	0.17478	.	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	L	0.53249	1.67	0.51482	D	0.999925	D;D;D	0.76494	0.999;0.998;0.996	D;D;D	0.72982	0.94;0.979;0.937	T	0.00326	-1.1815	10	0.56958	D	0.05	-16.6299	9.835	0.40965	0.0:0.5918:0.0:0.4082	.	84;151;571	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	N	151;571;571;43;571;84;151;43;181;43;43;60;43	ENSP00000435097:K151N;ENSP00000433528:K571N;ENSP00000319678:K571N;ENSP00000432887:K43N;ENSP00000350294:K571N;ENSP00000436808:K84N;ENSP00000436802:K151N;ENSP00000433588:K43N;ENSP00000437096:K43N;ENSP00000431580:K43N;ENSP00000433858:K60N	ENSP00000319678:K571N	K	-	3	2	ST5	8693858	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.103000	0.31062	0.065000	0.16485	-0.136000	0.14681	AAG		PASS	0.617	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		7	25	7	25	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9861114	9861114	+	Missense_Mutation	SNP	C	C	A	rs187674701		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:9861114C>A	ENST00000256190.8	-	26	3523	c.3386G>T	c.(3385-3387)aGc>aTc	p.S1129I	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1129	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S1129I(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACGGGAAGAGCTGCCACTTAT	0.473																																						uc001mib.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(3385-3387)AGC>ATC		SET binding factor 2							130.0	132.0	131.0					11																	9861114		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9861114C>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3386G>T	11.37:g.9861114C>A	ENSP00000256190:p.Ser1129Ile					SBF2_uc001mif.3_Missense_Mutation_p.S885I|uc001mig.2_Intron	p.S1129I	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	26	3524	-			1129			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3386G>T	CCDS31427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.82|14.82	2.649120|2.649120	0.47362|0.47362	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000530741|ENST00000256190	.|T	.|0.11277	.|2.79	5.48|5.48	1.27|1.27	0.21489|0.21489	.|Myotubularin phosphatase domain (1);	.|0.349389	.|0.36303	.|N	.|0.002662	T|T	0.20577|0.20577	0.0495|0.0495	M|M	0.83953|0.83953	2.67|2.67	0.32677|0.32677	N|N	0.51598|0.51598	.|B	.|0.33748	.|0.423	.|P	.|0.44422	.|0.449	T|T	0.11036|0.11036	-1.0604|-1.0604	5|10	.|0.42905	.|T	.|0.14	.|.	8.1513|8.1513	0.31143|0.31143	0.0:0.6221:0.1149:0.263|0.0:0.6221:0.1149:0.263	.|.	.|1129	.|Q86WG5	.|MTMRD_HUMAN	S|I	13|1129	.|ENSP00000256190:S1129I	.|ENSP00000256190:S1129I	A|S	-|-	1|2	0|0	SBF2|SBF2	9817690|9817690	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	0.751000|0.751000	0.26348|0.26348	0.329000|0.329000	0.23460|0.23460	0.650000|0.650000	0.86243|0.86243	GCT|AGC		PASS	0.473	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		26	61	26	61	---	---	---	---
MRGPRX3	117195	broad.mit.edu	37	11	18158752	18158752	+	Start_Codon_SNP	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:18158752G>C	ENST00000396275.2	+	3	364	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M1I(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCTGAGCATGGATTCAACCA	0.527																																						uc001mnu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1-3)ATG>ATC		MAS-related GPR, member X3							113.0	112.0	112.0					11																	18158752		2200	4293	6493	SO:0001582	initiator_codon_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158752G>C		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.3G>C	11.37:g.18158752G>C	ENSP00000379571:p.Met1Ile						p.M1I	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	364	+			1			Extracellular (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.3G>C	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017116	0.35606	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.21361	2.01;4.39	1.83	0.849	0.18972	.	0.686095	0.14137	N	0.338957	T	0.14917	0.0360	.	.	.	0.53688	D	0.999973	B	0.32101	0.356	B	0.32533	0.147	T	0.09271	-1.0682	9	0.54805	T	0.06	.	4.138	0.10179	0.2384:0.0:0.7616:0.0	.	1	Q96LB0	MRGX3_HUMAN	I	1	ENSP00000379571:M1I;ENSP00000436242:M1I	ENSP00000379571:M1I	M	+	3	0	MRGPRX3	18115328	0.004000	0.15560	0.133000	0.22050	0.694000	0.40290	1.067000	0.30616	0.097000	0.17492	0.195000	0.17529	ATG		PASS	0.527	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031	Missense_Mutation	45	64	45	64	---	---	---	---
BDNF	627	broad.mit.edu	37	11	27680064	27680064	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:27680064C>T	ENST00000525528.1	-	1	1141	c.48G>A	c.(46-48)atG>atA	p.M16I	BDNF_ENST00000420794.1_Missense_Mutation_p.M16I|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.M16I|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.M98I|BDNF_ENST00000314915.6_Missense_Mutation_p.M24I|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533131.1_Missense_Mutation_p.M16I|BDNF_ENST00000356660.4_Missense_Mutation_p.M16I|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000532997.1_Missense_Mutation_p.M16I|BDNF_ENST00000530861.1_Missense_Mutation_p.M16I|BDNF_ENST00000525950.1_Missense_Mutation_p.M16I|BDNF_ENST00000395980.2_Missense_Mutation_p.M16I|BDNF_ENST00000418212.1_Missense_Mutation_p.M16I|BDNF_ENST00000395978.3_Missense_Mutation_p.M16I|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.M16I|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.M16I|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.M31I|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.M16I	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	16					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)	p.M98I(1)|p.M24I(1)		breast(1)|large_intestine(3)|lung(2)	6						GGGCAGCCTTCATGCAACCAA	0.502																																						uc010rdu.1																			2	Substitution - Missense(2)		lung(2)		0						c.(46-48)ATG>ATA		brain-derived neurotrophic factor isoform a							97.0	106.0	103.0					11																	27680064		2202	4299	6501	SO:0001583	missense	627					extracellular region	growth factor activity	g.chr11:27680064C>T	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.48G>A	11.37:g.27680064C>T	ENSP00000437138:p.Met16Ile					BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.M16I|BDNF_uc001mrt.2_Missense_Mutation_p.M31I|BDNF_uc010rdw.1_Missense_Mutation_p.M16I|BDNF_uc009yjd.2_Missense_Mutation_p.M16I|BDNF_uc001mru.2_Missense_Mutation_p.M16I|BDNF_uc010rdx.1_Missense_Mutation_p.M16I|BDNF_uc010rdy.1_Missense_Mutation_p.M16I|BDNF_uc009yjg.2_Missense_Mutation_p.M16I|BDNF_uc009yje.2_Missense_Mutation_p.M98I|BDNF_uc009yjf.2_Missense_Mutation_p.M45I|BDNF_uc001mrv.2_Missense_Mutation_p.M16I|BDNF_uc001mrw.3_Missense_Mutation_p.M16I|BDNF_uc001mrx.2_Missense_Mutation_p.M16I|BDNF_uc001mry.3_Missense_Mutation_p.M16I|BDNF_uc001mrz.3_Missense_Mutation_p.M16I|BDNF_uc001msa.2_Missense_Mutation_p.M24I	p.M16I	NM_001143816	NP_001137288	P23560	BDNF_HUMAN			2	899	-			16					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	c.48G>A	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043616	0.55003	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	L	0.55743	1.74	0.80722	D	1	B;D;P;P;P	0.62365	0.185;0.991;0.656;0.525;0.656	B;P;P;P;P	0.56751	0.149;0.805;0.679;0.48;0.679	T	0.50608	-0.8808	10	0.87932	D	0	-2.2054	20.8794	0.99867	0.0:1.0:0.0:0.0	.	45;98;24;16;31	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	I	16;16;31;16;16;16;16;16;16;98;16;16;16;16;16;24;16;16	ENSP00000389345:M16I;ENSP00000437138:M16I;ENSP00000379309:M31I;ENSP00000432727:M16I;ENSP00000349084:M16I;ENSP00000400502:M16I;ENSP00000432376:M16I;ENSP00000435564:M16I;ENSP00000379307:M16I;ENSP00000414303:M98I;ENSP00000379304:M16I;ENSP00000435805:M16I;ENSP00000379305:M16I;ENSP00000379302:M16I;ENSP00000432035:M16I;ENSP00000320002:M24I;ENSP00000389564:M16I	ENSP00000320002:M24I	M	-	3	0	BDNF	27636640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.070000	0.71220	2.941000	0.99782	0.655000	0.94253	ATG		PASS	0.502	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		31	88	31	88	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30032317	30032317	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:30032317C>T	ENST00000328224.6	-	2	3142	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	637					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.E637K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TTATCTGTCTCACTGTCATCC	0.468																																						uc001msk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1909-1911)GAG>AAG		potassium voltage-gated channel, shaker-related							126.0	129.0	128.0					11																	30032317		1961	4148	6109	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032317C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1909G>A	11.37:g.30032317C>T	ENSP00000328511:p.Glu637Lys						p.E637K	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	3061	-			637						Missense_Mutation	SNP	ENST00000328224.6	37	c.1909G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541957	0.45280	.	.	ENSG00000182255	ENST00000328224	D	0.96685	-4.09	5.7	5.7	0.88788	.	0.318283	0.33813	N	0.004539	D	0.91304	0.7258	N	0.12182	0.205	0.52501	D	0.999954	B	0.31581	0.329	B	0.32762	0.152	D	0.89164	0.3532	10	0.08837	T	0.75	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	637	P22459	KCNA4_HUMAN	K	637	ENSP00000328511:E637K	ENSP00000328511:E637K	E	-	1	0	KCNA4	29988893	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.079000	0.71291	2.683000	0.91414	0.655000	0.94253	GAG		PASS	0.468	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		17	45	17	45	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31113054	31113054	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:31113054C>A	ENST00000597505.1	-	15	2122	c.2123G>T	c.(2122-2124)gGa>gTa	p.G708V	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.G327V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGGATCATTCCAGTCTTCCA	0.428																																						uc009yjk.1																			1	Substitution - Missense(1)		lung(1)								c.(466-468)GGA>GTA		RecName: Full=Doublecortin domain-containing protein 5;							44.0	39.0	41.0					11																	31113054		1868	4105	5973	SO:0001583	missense	0							g.chr11:31113054C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2123G>T	11.37:g.31113054C>A	ENSP00000472625:p.Gly708Val					uc009yjl.1_Missense_Mutation_p.G84V|DCDC1_uc001msu.1_Missense_Mutation_p.G327V	p.G156V							5	536	-								A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.467G>T																																																																																					PASS	0.428	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		9	11	9	11	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31327851	31327851	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:31327851C>A	ENST00000452803.1	-	5	720	c.519G>T	c.(517-519)gtG>gtT	p.V173V	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000597505.1_Silent_p.V173V	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	173	Doublecortin. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)			p.V173V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTACTTTAATCACTCTTGGTT	0.383																																						uc001msv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(517-519)GTG>GTT		doublecortin domain containing 1							124.0	119.0	121.0					11																	31327851		2202	4299	6501	SO:0001819	synonymous_variant	341019				intracellular signal transduction			g.chr11:31327851C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.519G>T	11.37:g.31327851C>A						DCDC1_uc001msu.1_5'UTR	p.V173V	NM_181807	NP_861523	P59894	DCDC1_HUMAN			5	721	-	Lung SC(675;0.225)		173			Doublecortin.		A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000452803.1	37	c.519G>T	CCDS7872.1																																																																																				PASS	0.383	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		12	42	12	42	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31815649	31815649	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:31815649G>T	ENST00000379132.3	-	8	976	c.696C>A	c.(694-696)acC>acA	p.T232T	PAX6_ENST00000379129.2_Silent_p.T246T|PAX6_ENST00000379123.5_Silent_p.T232T|PAX6_ENST00000241001.8_Silent_p.T232T|PAX6_ENST00000379107.2_Silent_p.T246T|PAX6_ENST00000379111.2_Silent_p.T232T|PAX6_ENST00000379115.4_Silent_p.T246T|PAX6_ENST00000419022.1_Silent_p.T246T			P26367	PAX6_HUMAN	paired box 6	232					astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.T246T(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CTGGATAATGGGTTCTCTCAA	0.423									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													uc001mtd.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9						c.(694-696)ACC>ACA		paired box gene 6 isoform a							216.0	212.0	213.0					11																	31815649		2202	4299	6501	SO:0001819	synonymous_variant	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31815649G>T	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.696C>A	11.37:g.31815649G>T						PAX6_uc001mte.3_Silent_p.T232T|PAX6_uc001mtg.3_Silent_p.T246T|PAX6_uc001mtf.3_Silent_p.T232T|PAX6_uc001mth.3_Silent_p.T232T|PAX6_uc009yjr.2_Silent_p.T232T	p.T232T	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			8	1586	-	Lung SC(675;0.225)		232			Homeobox.		Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	c.696C>A	CCDS31451.1																																																																																				PASS	0.423	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		17	110	17	110	---	---	---	---
WT1	7490	broad.mit.edu	37	11	32417924	32417924	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:32417924C>A	ENST00000379079.2	-	7	765	c.492G>T	c.(490-492)ccG>ccT	p.P164P	WT1_ENST00000332351.3_Silent_p.P376P|WT1_ENST00000448076.3_Silent_p.P376P|WT1_ENST00000530998.1_Silent_p.P147P	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	308					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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)|zinc ion binding (GO:0008270)	p.T309fs*73(3)|p.T309fs*12(3)|p.T309fs*9(2)|p.T309fs*8(2)|p.R301fs*3(1)|p.A307fs*69(1)|p.P308fs*67(1)|p.A307fs*70(1)|p.T309fs*75(1)|p.P308fs*9(1)|p.V300fs*6(1)|p.R301fs*73(1)|p.T309fs*71(1)|p.R302fs*12(1)|p.P164P(1)|p.P308P(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTACAAGAGTCGGGGCTACTC	0.517			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	22	Insertion - Frameshift(10)|Deletion - Frameshift(5)|Complex - frameshift(5)|Substitution - coding silent(2)	p.T309fs*73(3)|p.T309fs*12(3)|p.T309fs*9(2)|p.T309fs*8(2)|p.R301fs*3(1)|p.A307fs*69(1)|p.P308fs*67(1)|p.A307fs*70(1)|p.T309fs*75(1)|p.P308fs*9(1)|p.V300fs*6(1)|p.R301fs*73(1)|p.T309fs*71(1)|p.R302fs*12(1)	haematopoietic_and_lymphoid_tissue(19)|lung(2)|kidney(1)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(1126-1128)CCG>CCT		Wilms tumor 1 isoform D							105.0	92.0	96.0					11																	32417924		2202	4299	6501	SO:0001819	synonymous_variant	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32417924C>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.492G>T	11.37:g.32417924C>A						WT1_uc001mtl.1_Silent_p.P164P|WT1_uc001mtm.1_Silent_p.P147P|WT1_uc001mto.1_Silent_p.P376P|WT1_uc001mtp.1_Silent_p.P359P|WT1_uc001mtq.1_Silent_p.P359P|WT1_uc009yjs.1_RNA	p.P376P	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		7	1324	-	Breast(20;0.247)		308					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000379079.2	37	c.1128G>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761114	0.15914	.	.	ENSG00000184937	ENST00000527882	.	.	.	6.17	-8.32	0.00996	.	.	.	.	.	T	0.36138	0.0956	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44982	-0.9292	4	.	.	.	.	3.5879	0.07978	0.1014:0.1942:0.2042:0.5002	.	.	.	.	Y	67	.	.	D	-	1	0	WT1	32374500	0.000000	0.05858	0.891000	0.34965	0.922000	0.55478	-2.631000	0.00871	-1.062000	0.03181	-0.165000	0.13383	GAC		PASS	0.517	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		13	26	13	26	---	---	---	---
WT1	7490	broad.mit.edu	37	11	32450097	32450097	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:32450097A>G	ENST00000379079.2	-	2	352	c.79T>C	c.(79-81)Ttc>Ctc	p.F27L	WT1_ENST00000332351.3_Missense_Mutation_p.F239L|WT1_ENST00000448076.3_Missense_Mutation_p.F239L|WT1_ENST00000530998.1_Missense_Mutation_p.F27L	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	171	Pro-rich.				adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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)|zinc ion binding (GO:0008270)	p.F171L(1)|p.F27L(1)|p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGGTTGGGGAACTGCGCCGCA	0.632			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	3	Substitution - Missense(2)|Unknown(1)		lung(2)|kidney(1)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(715-717)TTC>CTC		Wilms tumor 1 isoform D							101.0	75.0	84.0					11																	32450097		2202	4299	6501	SO:0001583	missense	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32450097A>G		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.79T>C	11.37:g.32450097A>G	ENSP00000368370:p.Phe27Leu					WT1_uc001mtl.1_Missense_Mutation_p.F27L|WT1_uc001mtm.1_Missense_Mutation_p.F27L|WT1_uc001mto.1_Missense_Mutation_p.F239L|WT1_uc001mtp.1_Missense_Mutation_p.F239L|WT1_uc001mtq.1_Missense_Mutation_p.F239L|WT1_uc009yjs.1_RNA	p.F239L	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		2	911	-	Breast(20;0.247)		171					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.715T>C	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225268	0.58668	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.45	4.33	0.51752	Wilm&apos (1);s tumour protein, N-terminal (1);	0.170649	0.37955	U	0.001877	T	0.75095	0.3803	N	0.25890	0.77	0.47994	D	0.999561	B;B;B;B;B	0.13145	0.007;0.001;0.007;0.004;0.002	B;B;B;B;B	0.15484	0.013;0.009;0.013;0.004;0.004	T	0.66909	-0.5804	10	0.24483	T	0.36	.	11.2959	0.49277	0.9286:0.0:0.0714:0.0	.	244;171;244;27;27	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	L	27;239;27;239;239	ENSP00000368370:F27L;ENSP00000331327:F239L;ENSP00000435307:F27L;ENSP00000415516:F239L;ENSP00000413452:F239L	ENSP00000331327:F239L	F	-	1	0	WT1	32406673	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.828000	0.48120	1.037000	0.40024	0.459000	0.35465	TTC		PASS	0.632	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		8	20	8	20	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32635972	32635972	+	Missense_Mutation	SNP	G	G	C	rs200480161		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:32635972G>C	ENST00000335185.5	-	16	1935	c.1892C>G	c.(1891-1893)tCg>tGg	p.S631W	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	631								p.S631W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATCTAGAGACGAGTCCAAATC	0.328																																						uc001mtv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1891-1893)TCG>TGG		sarcoma antigen NY-SAR-79							71.0	64.0	67.0					11																	32635972		1811	4081	5892	SO:0001583	missense	493860							g.chr11:32635972G>C	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1892C>G	11.37:g.32635972G>C	ENSP00000335325:p.Ser631Trp						p.S631W	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			16	1936	-	Breast(20;0.112)		631					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.1892C>G	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	6.411	0.444019	0.12164	.	.	ENSG00000186714	ENST00000335185	.	.	.	4.57	1.59	0.23543	.	0.275863	0.23090	N	0.052053	T	0.50973	0.1647	L	0.47716	1.5	0.09310	N	1	D	0.55172	0.97	D	0.64237	0.923	T	0.41893	-0.9483	9	0.72032	D	0.01	.	9.9367	0.41556	0.2523:0.0:0.7477:0.0	.	631	Q6ZRK6	CCD73_HUMAN	W	631	.	ENSP00000335325:S631W	S	-	2	0	CCDC73	32592548	0.814000	0.29104	0.006000	0.13384	0.001000	0.01503	1.947000	0.40293	0.125000	0.18397	-1.094000	0.02160	TCG		PASS	0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		9	18	9	18	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32956358	32956358	+	Missense_Mutation	SNP	G	G	T	rs368031810		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:32956358G>T	ENST00000399302.2	+	4	3502	c.3167G>T	c.(3166-3168)aGt>aTt	p.S1056I	QSER1_ENST00000527788.1_Missense_Mutation_p.S817I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1056								p.S1056I(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GATGCAGTCAGTGTCAAGATT	0.428																																						uc001mty.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3166-3168)AGT>ATT		glutamine and serine rich 1							83.0	78.0	79.0					11																	32956358		1910	4125	6035	SO:0001583	missense	79832							g.chr11:32956358G>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3167G>T	11.37:g.32956358G>T	ENSP00000382241:p.Ser1056Ile					QSER1_uc001mtz.1_Missense_Mutation_p.S817I|QSER1_uc001mua.2_Missense_Mutation_p.S561I	p.S1056I	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	3434	+	Breast(20;0.158)		1056					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3167G>T	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.685|7.685	0.689811|0.689811	0.14973|0.14973	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.23950|.	2.2;1.88|.	5.51|5.51	0.54|0.54	0.17163|0.17163	.|.	0.420932|.	0.24341|.	N|.	0.039367|.	T|T	0.39572|0.39572	0.1083|0.1083	L|L	0.54323|0.54323	1.7|1.7	0.22521|0.22521	N|N	0.999026|0.999026	B;P;B|.	0.41265|.	0.005;0.744;0.007|.	B;B;B|.	0.38378|.	0.013;0.272;0.003|.	T|T	0.31558|0.31558	-0.9939|-0.9939	10|5	0.41790|.	T|.	0.15|.	.|.	6.2822|6.2822	0.21013|0.21013	0.0785:0.2226:0.5854:0.1135|0.0785:0.2226:0.5854:0.1135	.|.	817;817;1056|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	I|L	1056;817;817|77	ENSP00000382241:S1056I;ENSP00000432766:S817I|.	ENSP00000078652:S817I|.	S|V	+|+	2|1	0|0	QSER1|QSER1	32912934|32912934	0.881000|0.881000	0.30235|0.30235	0.066000|0.066000	0.19879|0.19879	0.506000|0.506000	0.33950|0.33950	1.436000|1.436000	0.34980|0.34980	-0.060000|-0.060000	0.13132|0.13132	-0.300000|-0.300000	0.09419|0.09419	AGT|GTG		PASS	0.428	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		13	69	13	69	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33572687	33572687	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:33572687G>C	ENST00000321505.4	+	4	2892	c.2712G>C	c.(2710-2712)gtG>gtC	p.V904V	KIAA1549L_ENST00000265654.5_Silent_p.V910V|KIAA1549L_ENST00000389726.3_Silent_p.V910V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	904						integral component of membrane (GO:0016021)		p.V904V(1)|p.V910V(1)									TGCTGGGTGTGTATGGAGTCA	0.493																																						uc001mup.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2728-2730)GTG>GTC		hypothetical protein LOC25758							203.0	202.0	203.0					11																	33572687		2172	4275	6447	SO:0001819	synonymous_variant	25758					integral to membrane		g.chr11:33572687G>C	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2712G>C	11.37:g.33572687G>C						C11orf41_uc001mun.1_Silent_p.V910V	p.V910V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			4	2854	+			904					B0QYU0	Silent	SNP	ENST00000321505.4	37	c.2730G>C	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	7.549	0.662285	0.14645	.	.	ENSG00000110427	ENST00000526400	.	.	.	6.06	1.15	0.20763	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35025	-0.9805	4	.	.	.	-11.3009	5.4838	0.16739	0.0:0.2152:0.2807:0.5041	.	.	.	.	S	302	.	.	C	+	2	0	C11orf41	33529263	0.289000	0.24334	0.984000	0.44739	0.792000	0.44763	-0.396000	0.07278	-0.042000	0.13535	-0.262000	0.10625	TGT		PASS	0.493	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		59	86	59	86	---	---	---	---
TRAF6	7189	broad.mit.edu	37	11	36511715	36511715	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:36511715C>T	ENST00000526995.1	-	7	1488	c.1242G>A	c.(1240-1242)atG>atA	p.M414I	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.M414I	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	414	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M414I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				ATTCTCCTTGCATTGTGTGGA	0.493																																						uc001mwr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1240-1242)ATG>ATA		TNF receptor-associated factor 6							100.0	97.0	98.0					11																	36511715		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511715C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1242G>A	11.37:g.36511715C>T	ENSP00000433623:p.Met414Ile					uc001mwq.1_5'Flank|TRAF6_uc001mws.1_Missense_Mutation_p.M414I	p.M414I	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN			8	1582	-	all_lung(20;0.211)	all_hematologic(20;0.107)	414			MATH.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.1242G>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749818	0.89753	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.42513	0.97;0.97	5.35	5.35	0.76521	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74645	-0.3596	10	0.72032	D	0.01	-24.7625	19.4287	0.94755	0.0:1.0:0.0:0.0	.	414	Q9Y4K3	TRAF6_HUMAN	I	414	ENSP00000433623:M414I;ENSP00000337853:M414I	ENSP00000337853:M414I	M	-	3	0	TRAF6	36468291	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.772000	0.85439	2.668000	0.90789	0.555000	0.69702	ATG		PASS	0.493	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		12	26	12	26	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36595604	36595604	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:36595604G>T	ENST00000299440.5	+	2	862	c.750G>T	c.(748-750)aaG>aaT	p.K250N		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	250	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K250N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTCAGCACAAGAGAAGAGCTC	0.498									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(748-750)AAG>AAT		recombination activating gene 1							84.0	74.0	77.0					11																	36595604		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595604G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.750G>T	11.37:g.36595604G>T	ENSP00000299440:p.Lys250Asn					RAG1_uc001mwt.2_RNA	p.K250N	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	874	+	all_lung(20;0.226)	all_hematologic(20;0.107)	250			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.750G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303268	0.23736	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.38077	1.16;1.16	5.6	4.68	0.58851	.	1.008220	0.07961	N	0.982365	T	0.38746	0.1052	M	0.64080	1.96	0.09310	N	1	B	0.21688	0.059	B	0.21151	0.033	T	0.22977	-1.0201	10	0.72032	D	0.01	.	9.2707	0.37670	0.1512:0.0:0.8488:0.0	.	250	P15918	RAG1_HUMAN	N	250	ENSP00000434610:K250N;ENSP00000299440:K250N	ENSP00000299440:K250N	K	+	3	2	RAG1	36552180	0.657000	0.27393	0.066000	0.19879	0.083000	0.17756	1.843000	0.39259	2.665000	0.90641	0.650000	0.86243	AAG		PASS	0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		9	51	9	51	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40137549	40137549	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:40137549G>C	ENST00000278198.2	-	2	2257	c.294C>G	c.(292-294)caC>caG	p.H98Q	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H98Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H98Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H98Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	98					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.H98Q(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGTGTCTCAAGTGCTTGAAGC	0.473																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(292-294)CAC>CAG		netrin-G1 ligand precursor							99.0	92.0	94.0					11																	40137549		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137549G>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.294C>G	11.37:g.40137549G>C	ENSP00000278198:p.His98Gln					LRRC4C_uc001mxc.1_Missense_Mutation_p.H94Q|LRRC4C_uc001mxd.1_Missense_Mutation_p.H94Q|LRRC4C_uc001mxb.1_Missense_Mutation_p.H94Q	p.H98Q	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2258	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	98			LRR 1.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.294C>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336898	0.60963	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.76	3.87	0.44632	.	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	N	0.20357	0.565	0.51767	D	0.999937	P	0.35174	0.488	B	0.43274	0.414	T	0.77143	-0.2696	10	0.21014	T	0.42	.	8.8898	0.35425	0.2579:0.0:0.7421:0.0	.	98	Q9HCJ2	LRC4C_HUMAN	Q	98	ENSP00000278198:H98Q;ENSP00000436976:H98Q;ENSP00000437132:H98Q;ENSP00000434761:H98Q	ENSP00000278198:H98Q	H	-	3	2	LRRC4C	40094125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.220000	0.42908	0.761000	0.33130	0.650000	0.86243	CAC		PASS	0.473	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		6	42	6	42	---	---	---	---
DDB2	1643	broad.mit.edu	37	11	47238436	47238436	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:47238436C>G	ENST00000256996.4	+	3	487	c.292C>G	c.(292-294)Ctg>Gtg	p.L98V	DDB2_ENST00000378601.3_Missense_Mutation_p.L98V|DDB2_ENST00000378603.3_Intron|DDB2_ENST00000378600.3_Missense_Mutation_p.L98V	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	98	Required for interaction with DDB1.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.L98V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTTGCACACTCTGGATTCTTA	0.512			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	kidney(2)|ovary(1)	3						c.(292-294)CTG>GTG	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							46.0	48.0	47.0					11																	47238436		2201	4298	6499	SO:0001583	missense	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47238436C>G		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.292C>G	11.37:g.47238436C>G	ENSP00000256996:p.Leu98Val					DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Intron|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.L98V|DDB2_uc001nef.2_Missense_Mutation_p.L84V|DDB2_uc001neg.2_5'UTR|DDB2_uc001neh.2_RNA	p.L98V	NM_000107	NP_000098	Q92466	DDB2_HUMAN			3	487	+			98			Required for interaction with DDB1.		B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.292C>G	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628756	0.67015	.	.	ENSG00000134574	ENST00000256996;ENST00000378600;ENST00000378601	T;D;T	0.83506	-0.88;-1.73;1.4	5.78	3.88	0.44766	.	0.070269	0.64402	D	0.000012	D	0.86134	0.5860	L	0.61218	1.895	0.58432	D	0.999995	D;D;P	0.71674	0.996;0.998;0.915	P;P;B	0.59487	0.764;0.858;0.28	D	0.84175	0.0436	10	0.30854	T	0.27	-25.6638	11.0994	0.48166	0.1272:0.8049:0.0:0.0679	.	98;98;98	Q92466-3;Q92466-2;Q92466	.;.;DDB2_HUMAN	V	98	ENSP00000256996:L98V;ENSP00000367863:L98V;ENSP00000367864:L98V	ENSP00000256996:L98V	L	+	1	2	DDB2	47195012	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.453000	0.52978	1.430000	0.47334	0.655000	0.94253	CTG		PASS	0.512	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		6	13	6	13	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47312322	47312322	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:47312322C>T	ENST00000311027.5	+	20	3481	c.3316C>T	c.(3316-3318)Ctg>Ttg	p.L1106L	MADD_ENST00000395344.3_Silent_p.L1043L|MADD_ENST00000402799.1_Silent_p.L1043L|MADD_ENST00000405573.2_5'Flank|MADD_ENST00000406482.1_Silent_p.L1043L|MADD_ENST00000342922.4_Silent_p.L1086L|MADD_ENST00000402192.2_Silent_p.L1086L|MADD_ENST00000407859.3_Silent_p.L1063L|MADD_ENST00000349238.3_Silent_p.L1106L|MADD_ENST00000395336.3_Silent_p.L1106L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.L1106L(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCCTAAGGAACTGGACACCAG	0.507																																						uc001ner.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(3316-3318)CTG>TTG		MAP-kinase activating death domain-containing							70.0	69.0	70.0					11																	47312322		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47312322C>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3316C>T	11.37:g.47312322C>T						MADD_uc001neq.2_Silent_p.L1086L|MADD_uc001nev.1_Silent_p.L1043L|MADD_uc001nes.1_Silent_p.L1063L|MADD_uc001net.1_Silent_p.L1106L|MADD_uc009yln.1_Silent_p.L1043L|MADD_uc001neu.1_Silent_p.L1043L|MADD_uc001nex.2_Silent_p.L1106L|MADD_uc001nez.2_Silent_p.L1043L|MADD_uc001new.2_Silent_p.L1086L|MADD_uc009ylo.2_Silent_p.L24L	p.L1106L	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	20	3507	+			1106						Silent	SNP	ENST00000311027.5	37	c.3316C>T	CCDS7930.1																																																																																				PASS	0.507	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			13	40	13	40	---	---	---	---
OR4B1	119765	broad.mit.edu	37	11	48239093	48239093	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:48239093G>C	ENST00000309562.2	+	1	750	c.732G>C	c.(730-732)gtG>gtC	p.V244V		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V244V(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACATCACAGTGGTCATCTTGT	0.468																																						uc010rhs.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(730-732)GTG>GTC		olfactory receptor, family 4, subfamily B,							154.0	119.0	131.0					11																	48239093		2201	4298	6499	SO:0001819	synonymous_variant	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48239093G>C	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.732G>C	11.37:g.48239093G>C							p.V244V	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	732	+			244			Helical; Name=6; (Potential).		Q6IF75|Q96R64	Silent	SNP	ENST00000309562.2	37	c.732G>C	CCDS31485.1																																																																																				PASS	0.468	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		5	63	5	63	---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51411878	51411878	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:51411878T>C	ENST00000319760.6	-	1	570	c.518A>G	c.(517-519)cAt>cGt	p.H173R		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H173R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAACTGAAATGAACAATGAC	0.443																																						uc001nhi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(517-519)CAT>CGT		olfactory receptor, family 4, subfamily A,							69.0	59.0	63.0					11																	51411878		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411878T>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.518A>G	11.37:g.51411878T>C	ENSP00000367664:p.His173Arg						p.H173R	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	518	-		all_lung(304;0.236)	173			Extracellular (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.518A>G	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	5.997	0.367886	0.11352	.	.	ENSG00000221840	ENST00000319760	T	0.00174	8.62	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000133	T	0.00524	0.0017	H	0.97491	4.015	0.20764	N	0.999851	B	0.31989	0.35	B	0.44163	0.443	T	0.05194	-1.0900	10	0.87932	D	0	.	7.8263	0.29318	0.0:0.0:0.0:1.0	.	173	Q8NH83	OR4A5_HUMAN	R	173	ENSP00000367664:H173R	ENSP00000367664:H173R	H	-	2	0	OR4A5	51268454	0.066000	0.20996	0.058000	0.19502	0.003000	0.03518	2.781000	0.47750	1.143000	0.42306	0.136000	0.15936	CAT		PASS	0.443	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		5	42	5	42	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433256	55433256	+	Missense_Mutation	SNP	G	G	T	rs370491095		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:55433256G>T	ENST00000314259.3	+	1	643	c.614G>T	c.(613-615)tGt>tTt	p.C205F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C205F(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGGATGATGTGTGTGGCCATC	0.478																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(613-615)TGT>TTT		olfactory receptor, family 4, subfamily C,							143.0	125.0	131.0					11																	55433256		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433256G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.614G>T	11.37:g.55433256G>T	ENSP00000324769:p.Cys205Phe					OR4C6_uc010rik.1_Missense_Mutation_p.C205F	p.C205F	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	879	+			205			Helical; Name=5; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.614G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	9.664	1.145030	0.21288	.	.	ENSG00000181903	ENST00000314259	T	0.27720	1.65	4.07	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000820	T	0.36166	0.0957	L	0.42529	1.33	0.09310	N	1	D	0.59357	0.985	D	0.65010	0.931	T	0.06807	-1.0806	10	0.87932	D	0	.	2.9556	0.05875	0.1048:0.2873:0.4479:0.16	.	205	Q8NH72	OR4C6_HUMAN	F	205	ENSP00000324769:C205F	ENSP00000324769:C205F	C	+	2	0	OR4C6	55189832	0.000000	0.05858	0.581000	0.28614	0.034000	0.12701	-1.950000	0.01530	1.821000	0.53095	0.543000	0.68304	TGT		PASS	0.478	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		14	56	14	56	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587261	55587261	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:55587261C>G	ENST00000333976.4	+	1	176	c.156C>G	c.(154-156)atC>atG	p.I52M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I52M(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCATCAAAATCAACCCCAAAC	0.453																																						uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(154-156)ATC>ATG		olfactory receptor, family 5, subfamily D,							236.0	216.0	223.0					11																	55587261		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587261C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.156C>G	11.37:g.55587261C>G	ENSP00000335025:p.Ile52Met						p.I52M	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	156	+		all_epithelial(135;0.208)	52			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.156C>G	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	6.965	0.547991	0.13312	.	.	ENSG00000186119	ENST00000333976	T	0.03035	4.07	4.94	-2.15	0.07102	GPCR, rhodopsin-like superfamily (1);	0.188008	0.26338	N	0.024955	T	0.02230	0.0069	L	0.31526	0.94	0.09310	N	1	B	0.21905	0.062	B	0.28784	0.094	T	0.41413	-0.9510	10	0.30078	T	0.28	-16.6336	0.3249	0.00309	0.2771:0.2214:0.2844:0.2171	.	52	Q8NGL1	OR5DI_HUMAN	M	52	ENSP00000335025:I52M	ENSP00000335025:I52M	I	+	3	3	OR5D18	55343837	0.000000	0.05858	0.976000	0.42696	0.593000	0.36681	-4.243000	0.00267	0.008000	0.14787	-0.375000	0.07067	ATC		PASS	0.453	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		14	99	14	99	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595417	55595417	+	Silent	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:55595417T>C	ENST00000378397.1	+	1	723	c.723T>C	c.(721-723)tgT>tgC	p.C241C		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C241C(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTCCACCTGTGCCTCCCACC	0.493										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(721-723)TGT>TGC		olfactory receptor, family 5, subfamily L,							164.0	142.0	150.0					11																	55595417		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595417T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.723T>C	11.37:g.55595417T>C		HNSCC(27;0.073)					p.C241C	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	723	+		all_epithelial(135;0.208)	241			Helical; Name=6; (Potential).		Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.723T>C	CCDS31511.1																																																																																				PASS	0.493	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		29	53	29	53	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861081	55861081	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:55861081C>G	ENST00000302124.2	+	1	329	c.298C>G	c.(298-300)Caa>Gaa	p.Q100E		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100E(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGCTTTGTTCAAATGTACTT	0.398																																						uc010rix.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(298-300)CAA>GAA		olfactory receptor, family 8, subfamily I,							146.0	135.0	139.0					11																	55861081		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861081C>G	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.298C>G	11.37:g.55861081C>G	ENSP00000303864:p.Gln100Glu						p.Q100E	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	298	+	Esophageal squamous(21;0.00693)		100			Helical; Name=3; (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.298C>G	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288327	0.59976	.	.	ENSG00000172154	ENST00000302124	T	0.00464	7.24	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	U	0.001515	T	0.02083	0.0065	M	0.93016	3.37	0.44234	D	0.997079	D	0.76494	0.999	D	0.66351	0.943	T	0.43766	-0.9371	10	0.87932	D	0	-4.7545	16.5902	0.84763	0.0:1.0:0.0:0.0	.	100	Q8N0Y5	OR8I2_HUMAN	E	100	ENSP00000303864:Q100E	ENSP00000303864:Q100E	Q	+	1	0	OR8I2	55617657	1.000000	0.71417	0.847000	0.33407	0.317000	0.28152	5.275000	0.65575	2.225000	0.72522	0.440000	0.28878	CAA		PASS	0.398	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		16	100	16	100	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944717	55944717	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:55944717G>T	ENST00000312298.1	+	1	624	c.624G>T	c.(622-624)atG>atT	p.M208I		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M208I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TCATTGCCATGGCCACCTTCT	0.478																																						uc010rjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(622-624)ATG>ATT		olfactory receptor, family 5, subfamily J,							168.0	128.0	141.0					11																	55944717		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944717G>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.624G>T	11.37:g.55944717G>T	ENSP00000310788:p.Met208Ile						p.M208I	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	624	+	Esophageal squamous(21;0.00693)		208			Helical; Name=5; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.624G>T	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.240955	0.00274	.	.	ENSG00000174957	ENST00000312298	T	0.34275	1.37	4.55	0.121	0.14695	GPCR, rhodopsin-like superfamily (1);	0.615899	0.15672	N	0.250346	T	0.12305	0.0299	N	0.05441	-0.05	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.32268	-0.9913	10	0.02654	T	1	.	4.0132	0.09632	0.1572:0.1288:0.5818:0.1322	.	208	Q8NH18	OR5J2_HUMAN	I	208	ENSP00000310788:M208I	ENSP00000310788:M208I	M	+	3	0	OR5J2	55701293	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-0.947000	0.03901	0.461000	0.27071	0.591000	0.81541	ATG		PASS	0.478	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		14	61	14	61	---	---	---	---
OR5M9	390162	broad.mit.edu	37	11	56230190	56230190	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:56230190C>T	ENST00000279791.1	-	1	687	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D230N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CTCCTGCCATCGGCAGAGCGC	0.498																																						uc010rjj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(688-690)GAT>AAT		olfactory receptor, family 5, subfamily M,							57.0	54.0	55.0					11																	56230190		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230190C>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.688G>A	11.37:g.56230190C>T	ENSP00000279791:p.Asp230Asn						p.D230N	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	688	-	Esophageal squamous(21;0.00448)		230			Cytoplasmic (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.688G>A	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	8.357	0.832295	0.16820	.	.	ENSG00000150269	ENST00000279791	T	0.00115	8.71	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.648614	0.13502	N	0.383196	T	0.00144	0.0004	L	0.33792	1.035	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.39121	-0.9629	10	0.87932	D	0	-2.8686	8.6485	0.34020	0.0:0.8929:0.0:0.1071	.	230	Q8NGP3	OR5M9_HUMAN	N	230	ENSP00000279791:D230N	ENSP00000279791:D230N	D	-	1	0	OR5M9	55986766	0.000000	0.05858	0.083000	0.20561	0.005000	0.04900	0.145000	0.16157	2.160000	0.67779	0.542000	0.68232	GAT		PASS	0.498	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		12	9	12	9	---	---	---	---
OR5AR1	219493	broad.mit.edu	37	11	56431331	56431331	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:56431331C>G	ENST00000302969.2	+	1	194	c.170C>G	c.(169-171)aCa>aGa	p.T57R		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T57R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CAGCTTCACACACCCATGTAT	0.448																																						uc010rjm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)ACA>AGA		olfactory receptor, family 5, subfamily AR,							288.0	285.0	286.0					11																	56431331		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431331C>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.170C>G	11.37:g.56431331C>G	ENSP00000302639:p.Thr57Arg						p.T57R	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	170	+			57			Cytoplasmic (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.170C>G	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130772	0.56828	.	.	ENSG00000172459	ENST00000302969	T	0.00479	7.12	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.134613	0.34133	N	0.004228	T	0.00784	0.0026	M	0.90082	3.085	0.29098	N	0.881686	P	0.35272	0.493	B	0.26864	0.074	T	0.14309	-1.0477	10	0.87932	D	0	.	18.0183	0.89248	0.0:1.0:0.0:0.0	.	57	Q8NGP9	O5AR1_HUMAN	R	57	ENSP00000302639:T57R	ENSP00000302639:T57R	T	+	2	0	OR5AR1	56187907	0.000000	0.05858	0.998000	0.56505	0.976000	0.68499	0.289000	0.18957	2.738000	0.93877	0.637000	0.83480	ACA		PASS	0.448	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		33	118	33	118	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468215	56468215	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:56468215G>C	ENST00000312153.1	+	1	352	c.352G>C	c.(352-354)Gct>Cct	p.A118P		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A118P(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GGCTGCCGTGGCTTATGACCG	0.537																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)GCT>CCT		olfactory receptor, family 9, subfamily G,							116.0	108.0	111.0					11																	56468215		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468215G>C	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.352G>C	11.37:g.56468215G>C	ENSP00000309012:p.Ala118Pro						p.A118P	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	352	+			118			Cytoplasmic (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.352G>C	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004407	0.54254	.	.	ENSG00000174914	ENST00000312153	T	0.56103	0.48	4.54	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.80014	0.4546	H	0.96365	3.81	0.45515	D	0.998478	D	0.89917	1.0	D	0.91635	0.999	D	0.86322	0.1693	10	0.87932	D	0	-19.8068	14.2395	0.65948	0.0:0.0:0.8505:0.1495	.	118	Q8NH87	OR9G1_HUMAN	P	118	ENSP00000309012:A118P	ENSP00000309012:A118P	A	+	1	0	OR9G1	56224791	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	2.048000	0.41278	2.490000	0.84030	0.585000	0.79938	GCT		PASS	0.537	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		4	52	4	52	---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56949613	56949613	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:56949613C>G	ENST00000497933.1	+	1	393	c.246C>G	c.(244-246)ccC>ccG	p.P82P		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	52					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P82P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCAGCTGCCCCGTCCTTTGCA	0.647																																						uc001njl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)CCC>CCG		leucine rich repeat containing 55							50.0	53.0	52.0					11																	56949613		2201	4296	6497	SO:0001819	synonymous_variant	219527					integral to membrane		g.chr11:56949613C>G		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.246C>G	11.37:g.56949613C>G							p.P82P	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	393	+			52			LRRNT.		A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	c.246C>G	CCDS31539.1																																																																																				PASS	0.647	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		7	25	7	25	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207465	58207465	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:58207465G>C	ENST00000302572.2	-	1	181	c.160C>G	c.(160-162)Cac>Gac	p.H54D		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H54D(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGGGGGTGTGGAGACAGGAG	0.493																																						uc010rkh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)CAC>GAC		olfactory receptor, family 5, subfamily B,							67.0	72.0	71.0					11																	58207465		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207465G>C	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.160C>G	11.37:g.58207465G>C	ENSP00000306657:p.His54Asp						p.H54D	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	160	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	54			Helical; Name=2; (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.160C>G	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727924	0.48833	.	.	ENSG00000172362	ENST00000302572	T	0.15952	2.38	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000313	T	0.54175	0.1842	H	0.95679	3.705	0.47994	D	0.999566	D	0.71674	0.998	D	0.69307	0.963	T	0.70135	-0.4955	10	0.87932	D	0	-10.7748	16.9423	0.86221	0.0:0.0:1.0:0.0	.	54	Q96R08	OR5BC_HUMAN	D	54	ENSP00000306657:H54D	ENSP00000306657:H54D	H	-	1	0	OR5B12	57964041	1.000000	0.71417	0.991000	0.47740	0.028000	0.11728	4.412000	0.59787	2.553000	0.86117	0.462000	0.41574	CAC		PASS	0.493	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		16	39	16	39	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59211286	59211286	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:59211286C>G	ENST00000302030.2	+	1	670	c.645C>G	c.(643-645)ctC>ctG	p.L215L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L215L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CATCGTTCCTCCAACTCCTTA	0.547																																						uc001nnx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(643-645)CTC>CTG		olfactory receptor, family 5, subfamily A,							222.0	207.0	212.0					11																	59211286		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211286C>G	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.645C>G	11.37:g.59211286C>G							p.L215L	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	645	+			215			Helical; Name=5; (Potential).		B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.645C>G	CCDS31561.1																																																																																				PASS	0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		44	92	44	92	---	---	---	---
OR4D9	390199	broad.mit.edu	37	11	59282638	59282638	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:59282638C>A	ENST00000329328.3	+	1	253	c.253C>A	c.(253-255)Ctt>Att	p.L85I		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L85I(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCTGATAGATCTTCTATCAGA	0.463																																						uc010rkv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)CTT>ATT		olfactory receptor, family 4, subfamily D,							135.0	130.0	131.0					11																	59282638		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282638C>A	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.253C>A	11.37:g.59282638C>A	ENSP00000328563:p.Leu85Ile						p.L85I	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	253	+			85			Extracellular (Potential).		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.253C>A	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	C	4.291	0.053217	0.08291	.	.	ENSG00000172742	ENST00000329328	T	0.00408	7.54	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31301	U	0.007889	T	0.00440	0.0014	L	0.45698	1.435	0.09310	N	1	B	0.25772	0.134	B	0.30782	0.12	T	0.48340	-0.9044	10	0.54805	T	0.06	.	15.0689	0.72017	0.0:1.0:0.0:0.0	.	85	Q8NGE8	OR4D9_HUMAN	I	85	ENSP00000328563:L85I	ENSP00000328563:L85I	L	+	1	0	OR4D9	59039214	0.000000	0.05858	0.038000	0.18304	0.023000	0.10783	-0.052000	0.11865	1.931000	0.55961	0.462000	0.41574	CTT		PASS	0.463	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		19	56	19	56	---	---	---	---
MRPL16	54948	broad.mit.edu	37	11	59574004	59574004	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:59574004C>G	ENST00000300151.4	-	4	785	c.572G>C	c.(571-573)aGc>aCc	p.S191T		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	191					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.S191T(1)		central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						AGTCCCGCGGCTCACAGCCTT	0.512																																						uc001noh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(571-573)AGC>ACC		mitochondrial ribosomal protein L16 precursor							169.0	160.0	163.0					11																	59574004		2201	4295	6496	SO:0001583	missense	54948						rRNA binding	g.chr11:59574004C>G	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.572G>C	11.37:g.59574004C>G	ENSP00000300151:p.Ser191Thr						p.S191T	NM_017840	NP_060310	Q9NX20	RM16_HUMAN			4	786	-			191					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.572G>C	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062994	0.55432	.	.	ENSG00000166902	ENST00000300151	T	0.24723	1.84	6.07	6.07	0.98685	Ribosomal protein L10e/L16 (1);	0.067371	0.85682	D	0.000000	T	0.32376	0.0827	L	0.43598	1.365	0.80722	D	1	P	0.44816	0.844	P	0.45610	0.487	T	0.00595	-1.1653	10	0.45353	T	0.12	-31.5949	19.222	0.93801	0.0:1.0:0.0:0.0	.	191	Q9NX20	RM16_HUMAN	T	191	ENSP00000300151:S191T	ENSP00000300151:S191T	S	-	2	0	MRPL16	59330580	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.997000	0.40786	2.884000	0.98904	0.655000	0.94253	AGC		PASS	0.512	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		13	86	13	86	---	---	---	---
MS4A6E	245802	broad.mit.edu	37	11	60105243	60105243	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:60105243G>C	ENST00000300182.4	+	2	242	c.177G>C	c.(175-177)ctG>ctC	p.L59L		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	59						integral component of membrane (GO:0016021)		p.L59L(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GAAGCATTCTGAGTGCTCTGT	0.483																																						uc001npd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)CTG>CTC		membrane-spanning 4-domains, subfamily A, member							163.0	147.0	153.0					11																	60105243		2203	4300	6503	SO:0001819	synonymous_variant	245802					integral to membrane	receptor activity	g.chr11:60105243G>C	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.177G>C	11.37:g.60105243G>C							p.L59L	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			2	191	+			59			Helical; (Potential).		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Silent	SNP	ENST00000300182.4	37	c.177G>C	CCDS7984.1																																																																																				PASS	0.483	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			9	67	9	67	---	---	---	---
TMEM109	79073	broad.mit.edu	37	11	60687196	60687196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:60687196G>T	ENST00000227525.3	+	2	434	c.31G>T	c.(31-33)Gga>Tga	p.G11*	TMEM109_ENST00000536171.1_Nonsense_Mutation_p.G11*|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	11					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)		p.G11*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TTCACCATGGGGAAAGCATGT	0.562																																						uc001nqg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(31-33)GGA>TGA		transmembrane protein 109 precursor							127.0	105.0	112.0					11																	60687196		2203	4299	6502	SO:0001587	stop_gained	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60687196G>T		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.31G>T	11.37:g.60687196G>T	ENSP00000227525:p.Gly11*					TMEM109_uc001nqh.2_Nonsense_Mutation_p.G11*	p.G11*	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN			2	409	+			11						Nonsense_Mutation	SNP	ENST00000227525.3	37	c.31G>T	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056460	0.36277	.	.	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000540407;ENST00000536171	.	.	.	5.2	-0.129	0.13502	.	0.386153	0.23517	N	0.047332	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.924	4.6294	0.12493	0.2683:0.3014:0.4303:0.0	.	.	.	.	X	11	.	ENSP00000227525:G11X	G	+	1	0	TMEM109	60443772	0.180000	0.23148	0.031000	0.17742	0.192000	0.23643	0.176000	0.16782	-0.313000	0.08728	-0.253000	0.11424	GGA		PASS	0.562	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		24	41	24	41	---	---	---	---
CD6	923	broad.mit.edu	37	11	60785239	60785239	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:60785239G>A	ENST00000313421.7	+	11	1777	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	CD6_ENST00000346437.4_Missense_Mutation_p.E458K|CD6_ENST00000344028.5_Missense_Mutation_p.E499K|CD6_ENST00000452451.2_Missense_Mutation_p.E490K|CD6_ENST00000352009.5_Missense_Mutation_p.E499K	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	531					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)	p.E531K(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGGACTTGAAGAGTTGCATGC	0.527																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1591-1593)GAG>AAG		CD6 molecule precursor							82.0	87.0	86.0					11																	60785239		2203	4299	6502	SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785239G>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1591G>A	11.37:g.60785239G>A	ENSP00000323280:p.Glu531Lys					CD6_uc001nqp.2_Missense_Mutation_p.E531K|CD6_uc001nqr.2_Missense_Mutation_p.E499K|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.E490K	p.E531K	NM_006725	NP_006716	P30203	CD6_HUMAN			11	1814	+			531			Cytoplasmic (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	c.1591G>A	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308830	0.60305	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T	0.01613	4.87;4.73;4.91;4.87;4.77;4.86	3.82	3.82	0.43975	.	1.969230	0.02439	N	0.084380	T	0.05364	0.0142	L	0.60455	1.87	0.26180	N	0.979733	P;P;P;P	0.50272	0.933;0.933;0.89;0.89	P;P;B;B	0.46452	0.517;0.517;0.272;0.318	T	0.43163	-0.9408	10	0.87932	D	0	.	11.5297	0.50601	0.0:0.0:1.0:0.0	.	490;499;531;531	P30203-5;P30203-4;P30203;Q8N4Q7	.;.;CD6_HUMAN;.	K	499;458;531;398;490;499	ENSP00000344108:E499K;ENSP00000345566:E458K;ENSP00000323280:E531K;ENSP00000410638:E398K;ENSP00000390676:E490K;ENSP00000340628:E499K	ENSP00000323280:E531K	E	+	1	0	CD6	60541815	0.921000	0.31238	0.996000	0.52242	0.403000	0.30841	1.621000	0.36986	2.442000	0.82660	0.591000	0.81541	GAG		PASS	0.527	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		15	82	15	82	---	---	---	---
PGA3	643834	broad.mit.edu	37	11	60971058	60971058	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:60971058G>C	ENST00000325558.6	+	1	207	c.22G>C	c.(22-24)Ggt>Cgt	p.G8R		NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	8					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.G8R(1)		endometrium(1)|lung(1)|ovary(1)|skin(2)	5						GCTGCTGCTGGGTCTGGTGGC	0.582																																						uc001nqx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(22-24)GGT>CGT		pepsinogen 3, group I precursor							168.0	132.0	144.0					11																	60971058		2200	4298	6498	SO:0001583	missense	643834							g.chr11:60971058G>C	AL832946	CCDS31574.1	11q13	2006-12-13			ENSG00000229859	ENSG00000229859	3.4.23.1		8885	protein-coding gene	gene with protein product		169710				6300126	Standard	NM_001079807		Approved		uc001nqx.3	P0DJD8	OTTHUMG00000168071	ENST00000325558.6:c.22G>C	11.37:g.60971058G>C	ENSP00000322192:p.Gly8Arg					PGA3_uc010rld.1_Missense_Mutation_p.G8R	p.G8R	NM_001079807	NP_001073275					1	75	+								A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	ENST00000325558.6	37	c.22G>C	CCDS31574.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755894	0.49362	.	.	ENSG00000229859	ENST00000325558;ENST00000439843	T	0.58940	0.3	3.49	-1.4	0.08968	.	1.247530	0.06137	U	0.671730	T	0.68933	0.3055	M	0.77406	2.37	0.09310	N	0.999999	P;P	0.49358	0.923;0.862	P;P	0.54815	0.646;0.761	T	0.61178	-0.7115	10	0.87932	D	0	.	8.583	0.33642	0.3877:0.0:0.6123:0.0	.	8;8	E7EUP8;F8WAB4	.;.	R	8	ENSP00000322192:G8R	ENSP00000322192:G8R	G	+	1	0	PGA3	60727634	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.629000	0.05508	-0.293000	0.08986	-0.262000	0.10625	GGT		PASS	0.582	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397955.2	NM_001079807		9	13	9	13	---	---	---	---
INCENP	3619	broad.mit.edu	37	11	61919412	61919412	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:61919412C>G	ENST00000394818.3	+	19	2923	c.2721C>G	c.(2719-2721)gtC>gtG	p.V907V	INCENP_ENST00000278849.4_Silent_p.V903V	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	907					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)		p.V907V(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCGCCAGGGTCCCCAGCAGCC	0.612																																						uc001nsw.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(2719-2721)GTC>GTG		inner centromere protein antigens 135/155kDa							31.0	33.0	32.0					11																	61919412		2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61919412C>G	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2721C>G	11.37:g.61919412C>G						INCENP_uc001nsx.1_Silent_p.V903V|INCENP_uc001nsy.1_Silent_p.V321V	p.V907V	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN			19	2923	+			907					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.2721C>G	CCDS44624.1																																																																																				PASS	0.612	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		5	18	5	18	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65267905	65267905	+	lincRNA	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:65267905G>A	ENST00000534336.1	+	0	2673				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AATCTAGGAAGACAGCAGCAG	0.448																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							78.0	71.0	73.0					11																	65267905		874	1988	2862			378938							g.chr11:65267905G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65267905G>A						uc001ody.2_RNA|MALAT1_uc001odz.2_5'Flank		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.2673G>A																																																																																					PASS	0.448	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		22	40	22	40	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65268000	65268000	+	lincRNA	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:65268000G>C	ENST00000534336.1	+	0	2768				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GATAGGAAAAGAGTCCAGGAG	0.507																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							120.0	108.0	111.0					11																	65268000		874	1988	2862			378938							g.chr11:65268000G>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268000G>C						uc001ody.2_RNA|MALAT1_uc001odz.2_5'Flank		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.2768G>C																																																																																					PASS	0.507	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		18	59	18	59	---	---	---	---
ACY3	91703	broad.mit.edu	37	11	67413199	67413199	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:67413199G>A	ENST00000255082.3	-	4	566	c.396C>T	c.(394-396)caC>caT	p.H132H	ACY3_ENST00000529256.1_Silent_p.H11H	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	132	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.H132H(1)		endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CAAAGACTTCGTGGGAGGACT	0.652																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)CAC>CAT		aspartoacylase 3	L-Aspartic Acid(DB00128)						163.0	143.0	150.0					11																	67413199		2200	4294	6494	SO:0001819	synonymous_variant	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67413199G>A	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.396C>T	11.37:g.67413199G>A							p.H132H	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			4	567	-			132						Silent	SNP	ENST00000255082.3	37	c.396C>T	CCDS8175.1																																																																																				PASS	0.652	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		44	31	44	31	---	---	---	---
KRTAP5-11	440051	broad.mit.edu	37	11	71293514	71293514	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:71293514G>A	ENST00000398530.1	-	1	407	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	124	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.P124S(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						cagcagcagggcttgcagcag	0.617																																						uc001oqu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CCC>TCC		keratin associated protein 5-11							56.0	67.0	63.0					11																	71293514		2200	4293	6493	SO:0001583	missense	440051					keratin filament		g.chr11:71293514G>A	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.370C>T	11.37:g.71293514G>A	ENSP00000381541:p.Pro124Ser						p.P124S	NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN			1	408	-			124			5.|6 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000398530.1	37	c.370C>T	CCDS41685.1	.	.	.	.	.	.	.	.	.	.	.	0.072	-1.200527	0.01581	.	.	ENSG00000204571	ENST00000376535;ENST00000398530	T	0.04119	3.7	1.93	-1.88	0.07713	.	.	.	.	.	T	0.04048	0.0113	L	0.43701	1.375	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.41875	-0.9484	9	0.36615	T	0.2	.	3.5592	0.07875	0.4259:0.1988:0.3754:0.0	.	124	Q6L8G4	KR511_HUMAN	S	124	ENSP00000381541:P124S	ENSP00000365718:P124S	P	-	1	0	KRTAP5-11	70971162	0.987000	0.35691	0.001000	0.08648	0.004000	0.04260	0.475000	0.22164	-0.525000	0.06391	-0.858000	0.03015	CCC		PASS	0.617	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		7	67	7	67	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73020284	73020284	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:73020284C>A	ENST00000263674.3	+	1	951	c.601C>A	c.(601-603)Cag>Aag	p.Q201K	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	201	Poly-Gln.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q201K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCGCCGGCCGCAGCAGCAACA	0.716																																						uc001otu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)CAG>AAG		Rho guanine nucleotide exchange factor (GEF) 17							22.0	25.0	24.0					11																	73020284		1877	3672	5549	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020284C>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.601C>A	11.37:g.73020284C>A	ENSP00000263674:p.Gln201Lys						p.Q201K	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			1	622	+			201			Poly-Gln.		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.601C>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914693	0.33815	.	.	ENSG00000110237	ENST00000263674	T	0.56611	0.45	3.14	3.14	0.36123	.	0.545905	0.13837	N	0.359328	T	0.34454	0.0898	N	0.14661	0.345	0.22066	N	0.999383	B	0.19817	0.039	B	0.14578	0.011	T	0.23226	-1.0194	10	0.48119	T	0.1	-1.6153	10.4682	0.44620	0.0:1.0:0.0:0.0	.	201	Q96PE2	ARHGH_HUMAN	K	201	ENSP00000263674:Q201K	ENSP00000263674:Q201K	Q	+	1	0	ARHGEF17	72697932	0.932000	0.31603	1.000000	0.80357	0.682000	0.39822	0.144000	0.16135	1.724000	0.51502	0.462000	0.41574	CAG		PASS	0.716	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		12	11	12	11	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76162994	76162994	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:76162994G>C	ENST00000529032.1	+	2	163	c.163G>C	c.(163-165)Gtt>Ctt	p.V55L	C11orf30_ENST00000533988.1_Missense_Mutation_p.V55L|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000334736.3_Missense_Mutation_p.V55L|C11orf30_ENST00000524490.1_Missense_Mutation_p.V55L|C11orf30_ENST00000524767.1_Missense_Mutation_p.V55L|C11orf30_ENST00000525038.1_Missense_Mutation_p.V55L|C11orf30_ENST00000525919.1_Missense_Mutation_p.V55L|C11orf30_ENST00000533248.1_Missense_Mutation_p.V55L|C11orf30_ENST00000343878.3_Missense_Mutation_p.V55L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	55	ENT. {ECO:0000255|PROSITE- ProRule:PRU00476}.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V55L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ACTATCAAAAGTTCTTAGGTA	0.348																																						uc001oxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(163-165)GTT>CTT		EMSY protein							28.0	29.0	29.0					11																	76162994		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76162994G>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.163G>C	11.37:g.76162994G>C	ENSP00000432327:p.Val55Leu					C11orf30_uc001oxj.2_Missense_Mutation_p.V55L|C11orf30_uc001oxk.2_Missense_Mutation_p.V55L|C11orf30_uc009yuj.1_Missense_Mutation_p.V55L|C11orf30_uc010rsa.1_Missense_Mutation_p.V55L|C11orf30_uc001oxm.2_Missense_Mutation_p.V55L|C11orf30_uc010rsb.1_Missense_Mutation_p.V55L|C11orf30_uc010rsc.1_Missense_Mutation_p.V55L|C11orf30_uc001oxn.2_Missense_Mutation_p.V55L|C11orf30_uc010rsd.1_Missense_Mutation_p.V55L	p.V55L	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			3	306	+			55			Interaction with BRCA2.|ENT.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.163G>C	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661268	0.14645	.	.	ENSG00000158636	ENST00000533988;ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.7	5.7	0.88788	EMSY N-terminal (2);	0.058790	0.64402	D	0.000003	T	0.44993	0.1320	N	0.05330	-0.07	0.58432	D	0.999999	B;B;B;B;P;B;B;B;B	0.34546	0.452;0.452;0.452;0.088;0.456;0.129;0.29;0.129;0.001	B;B;B;B;B;B;B;B;B	0.38264	0.269;0.179;0.179;0.015;0.091;0.054;0.105;0.054;0.004	T	0.46034	-0.9220	9	0.40728	T	0.16	-7.5036	19.8297	0.96630	0.0:0.0:1.0:0.0	.	55;55;55;55;55;55;55;55;55	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	L	55	.	ENSP00000334130:V55L	V	+	1	0	C11orf30	75840642	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.397000	0.73239	2.697000	0.92050	0.557000	0.71058	GTT		PASS	0.348	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		3	30	3	30	---	---	---	---
NARS2	79731	broad.mit.edu	37	11	78285425	78285425	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:78285425G>C	ENST00000281038.5	-	1	484	c.109C>G	c.(109-111)Cag>Gag	p.Q37E	NARS2_ENST00000528850.1_5'Flank	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	37					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.Q37E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CTCGCGTTCTGAGCCCCGAGA	0.577																																						uc001ozi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(109-111)CAG>GAG		asparaginyl-tRNA synthetase 2, mitochondrial	L-Asparagine(DB00174)						105.0	110.0	108.0					11																	78285425		2200	4291	6491	SO:0001583	missense	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78285425G>C	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.109C>G	11.37:g.78285425G>C	ENSP00000281038:p.Gln37Glu					NARS2_uc010rsq.1_Intron	p.Q37E	NM_024678	NP_078954	Q96I59	SYNM_HUMAN			1	485	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		37					G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	c.109C>G	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449116	0.26074	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.75704	-0.96;1.03	5.6	4.68	0.58851	Nucleic acid-binding, OB-fold-like (1);	0.746260	0.13699	N	0.368994	T	0.55545	0.1927	N	0.19112	0.55	0.39598	D	0.969681	B	0.24882	0.113	B	0.21708	0.036	T	0.48864	-0.8997	10	0.06494	T	0.89	-2.27	11.0559	0.47918	0.0864:0.0:0.9136:0.0	.	37	Q96I59	SYNM_HUMAN	E	37	ENSP00000281038:Q37E;ENSP00000432240:Q37E	ENSP00000281038:Q37E	Q	-	1	0	NARS2	77963073	0.475000	0.25894	0.143000	0.22291	0.869000	0.49853	3.350000	0.52224	2.638000	0.89438	0.655000	0.94253	CAG		PASS	0.577	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		107	73	107	73	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85447559	85447559	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:85447559G>C	ENST00000528231.1	-	5	845	c.568C>G	c.(568-570)Cag>Gag	p.Q190E	SYTL2_ENST00000524452.1_Missense_Mutation_p.Q190E|SYTL2_ENST00000527523.1_Missense_Mutation_p.Q142E|SYTL2_ENST00000389960.4_Missense_Mutation_p.Q190E|SYTL2_ENST00000316356.4_Missense_Mutation_p.Q191E	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	190					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.Q191E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTGAAGTCTGAAATAAACCA	0.333																																						uc010rth.1																			1	Substitution - Missense(1)	p.G190V(1)	lung(1)	ovary(2)|large_intestine(1)	3						c.(568-570)CAG>GAG		synaptotagmin-like 2 isoform g							101.0	100.0	100.0					11																	85447559		2202	4298	6500	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85447559G>C	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.568C>G	11.37:g.85447559G>C	ENSP00000431701:p.Gln190Glu					SYTL2_uc010rtg.1_Missense_Mutation_p.Q191E|SYTL2_uc010rti.1_Missense_Mutation_p.Q190E|SYTL2_uc010rtj.1_Missense_Mutation_p.Q142E|SYTL2_uc001pbf.3_Missense_Mutation_p.Q190E|SYTL2_uc010rtf.1_Missense_Mutation_p.Q48E	p.Q190E	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	5	844	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	190					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.568C>G	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050404	0.36181	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.28255	1.69;1.78;1.71;1.62;1.69	5.93	5.93	0.95920	.	.	.	.	.	T	0.28234	0.0697	L	0.54323	1.7	0.80722	D	1	B;B;P;P;B	0.39665	0.418;0.418;0.682;0.622;0.43	B;B;B;B;B	0.33254	0.069;0.069;0.155;0.069;0.16	T	0.03095	-1.1073	8	.	.	.	.	14.6034	0.68460	0.0:0.1454:0.8546:0.0	.	142;190;190;191;48	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	E	190;191;190;142;190	ENSP00000374610:Q190E;ENSP00000318803:Q191E;ENSP00000431701:Q190E;ENSP00000434010:Q142E;ENSP00000435238:Q190E	.	Q	-	1	0	SYTL2	85125207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.998000	0.49465	2.814000	0.96858	0.655000	0.94253	CAG		PASS	0.333	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		11	24	11	24	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92533735	92533735	+	Missense_Mutation	SNP	G	G	C	rs201507634	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:92533735G>C	ENST00000298047.6	+	9	7573	c.7556G>C	c.(7555-7557)cGa>cCa	p.R2519P	FAT3_ENST00000525166.1_Missense_Mutation_p.R2369P|FAT3_ENST00000409404.2_Missense_Mutation_p.R2519P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2519	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2519P(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCATGTTCGAGCCACAGAT	0.493										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(7555-7557)CGA>CCA		FAT tumor suppressor homolog 3							44.0	46.0	46.0					11																	92533735		2071	4209	6280	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533735G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7556G>C	11.37:g.92533735G>C	ENSP00000298047:p.Arg2519Pro	TCGA Ovarian(4;0.039)					p.R2519P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	7573	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2519			Cadherin 23.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7556G>C		.	.	.	.	.	.	.	.	.	.	G	12.48	1.951928	0.34471	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53206	0.63;0.63;0.63	5.95	5.95	0.96441	.	.	.	.	.	T	0.47116	0.1428	M	0.79926	2.475	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.44982	-0.9292	9	0.30854	T	0.27	.	7.815	0.29254	0.1878:0.0:0.8122:0.0	.	2519	Q8TDW7-3	.	P	2519;2519;2369	ENSP00000298047:R2519P;ENSP00000387040:R2519P;ENSP00000432586:R2369P	ENSP00000298047:R2519P	R	+	2	0	FAT3	92173383	0.999000	0.42202	0.998000	0.56505	0.968000	0.65278	2.301000	0.43628	2.824000	0.97209	0.655000	0.94253	CGA		PASS	0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	23	10	23	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92600001	92600001	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:92600001A>T	ENST00000298047.6	+	21	11770	c.11753A>T	c.(11752-11754)cAc>cTc	p.H3918L	FAT3_ENST00000525166.1_Missense_Mutation_p.H3768L|FAT3_ENST00000533797.1_Missense_Mutation_p.H253L|FAT3_ENST00000409404.2_Missense_Mutation_p.H3918L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3918	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H3918L(2)|p.H493L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGAGCTGGCACTCGGTCTTC	0.637										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(11752-11754)CAC>CTC		FAT tumor suppressor homolog 3							37.0	43.0	41.0					11																	92600001		2023	4172	6195	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600001A>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11753A>T	11.37:g.92600001A>T	ENSP00000298047:p.His3918Leu	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.H358L	p.H3918L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			21	11770	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3918			Laminin G-like.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11753A>T		.	.	.	.	.	.	.	.	.	.	A	31	5.072781	0.93950	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.94866	0.8341	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95827	0.8855	9	0.87932	D	0	.	16.0948	0.81112	1.0:0.0:0.0:0.0	.	3918;3918	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	3918;3918;3768;253	ENSP00000298047:H3918L;ENSP00000387040:H3918L;ENSP00000432586:H3768L;ENSP00000436399:H253L	ENSP00000298047:H3918L	H	+	2	0	FAT3	92239649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.885000	0.92439	2.206000	0.71126	0.459000	0.35465	CAC		PASS	0.637	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		12	15	12	15	---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92881849	92881849	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:92881849C>A	ENST00000326402.4	-	11	1499	c.1369G>T	c.(1369-1371)Gca>Tca	p.A457S	SLC36A4_ENST00000529184.1_Missense_Mutation_p.A322S	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	457					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.A457S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAGTGAATGCTATAGAAATA	0.378																																						uc001pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1369-1371)GCA>TCA		solute carrier family 36 (proton/amino acid							70.0	77.0	74.0					11																	92881849		2201	4297	6498	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92881849C>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1369G>T	11.37:g.92881849C>A	ENSP00000317382:p.Ala457Ser					uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Missense_Mutation_p.A322S	p.A457S	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			11	1466	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	457			Helical; (Potential).		Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.1369G>T	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632963	0.29068	.	.	ENSG00000180773	ENST00000326402;ENST00000529184	T;T	0.02369	4.32;4.32	5.51	3.54	0.40534	.	0.265735	0.34133	N	0.004225	T	0.02083	0.0065	N	0.13272	0.32	0.35524	D	0.8017	B	0.09022	0.002	B	0.17098	0.017	T	0.50215	-0.8854	10	0.22109	T	0.4	-5.0307	11.2231	0.48866	0.1288:0.8012:0.0:0.07	.	457	Q6YBV0	S36A4_HUMAN	S	457;322	ENSP00000317382:A457S;ENSP00000436570:A322S	ENSP00000317382:A457S	A	-	1	0	SLC36A4	92521497	1.000000	0.71417	0.947000	0.38551	0.989000	0.77384	2.233000	0.43027	2.584000	0.87258	0.555000	0.69702	GCA		PASS	0.378	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			15	49	15	49	---	---	---	---
ENDOD1	23052	broad.mit.edu	37	11	94861787	94861787	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:94861787G>A	ENST00000278505.4	+	2	665	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	183						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D183N(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				CAGCCTAATGGACCGGGCTTT	0.517																																						uc001pfh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(547-549)GAC>AAC		endonuclease domain containing 1 precursor							93.0	88.0	89.0					11																	94861787		1958	4156	6114	SO:0001583	missense	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94861787G>A	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.547G>A	11.37:g.94861787G>A	ENSP00000278505:p.Asp183Asn						p.D183N	NM_015036	NP_055851	O94919	ENDD1_HUMAN			2	622	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	183					A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	c.547G>A	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697964	0.30142	.	.	ENSG00000149218	ENST00000278505	T	0.70749	-0.51	5.78	4.85	0.62838	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.542918	0.20750	N	0.086363	T	0.65852	0.2731	L	0.56769	1.78	0.30923	N	0.727767	P	0.43231	0.801	B	0.43225	0.412	T	0.67201	-0.5730	10	0.33141	T	0.24	-12.948	7.1573	0.25645	0.1451:0.1465:0.7084:0.0	.	183	O94919	ENDD1_HUMAN	N	183	ENSP00000278505:D183N	ENSP00000278505:D183N	D	+	1	0	ENDOD1	94501435	1.000000	0.71417	0.990000	0.47175	0.038000	0.13279	1.670000	0.37502	1.393000	0.46605	0.455000	0.32223	GAC		PASS	0.517	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		15	32	15	32	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101834216	101834216	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:101834216A>C	ENST00000263468.8	+	6	2720	c.2450A>C	c.(2449-2451)cAa>cCa	p.Q817P	KIAA1377_ENST00000537689.1_Missense_Mutation_p.Q618P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	817								p.Q817P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAAATATACAAGTGTCTCAG	0.338																																						uc001pgm.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(2449-2451)CAA>CCA		hypothetical protein LOC57562							63.0	64.0	64.0					11																	101834216		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101834216A>C	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2450A>C	11.37:g.101834216A>C	ENSP00000263468:p.Gln817Pro					KIAA1377_uc001pgn.2_Missense_Mutation_p.Q773P|KIAA1377_uc010run.1_Missense_Mutation_p.Q618P|KIAA1377_uc009yxa.1_Missense_Mutation_p.Q618P	p.Q817P	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2720	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	817					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.2450A>C	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	7.242	0.601473	0.13939	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08282	3.11;3.11	5.63	4.43	0.53597	.	0.699455	0.13694	N	0.369314	T	0.11024	0.0269	M	0.68317	2.08	0.09310	N	1	B	0.21225	0.053	B	0.20955	0.032	T	0.09862	-1.0655	10	0.54805	T	0.06	-1.3473	7.1648	0.25685	0.6621:0.133:0.0:0.2049	.	817	Q9P2H0	K1377_HUMAN	P	817;618	ENSP00000263468:Q817P;ENSP00000443184:Q618P	ENSP00000263468:Q817P	Q	+	2	0	KIAA1377	101339426	0.001000	0.12720	0.058000	0.19502	0.009000	0.06853	0.786000	0.26844	2.281000	0.76405	0.533000	0.62120	CAA		PASS	0.338	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		18	29	18	29	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108382262	108382262	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:108382262G>C	ENST00000265843.4	-	6	4082	c.3972C>G	c.(3970-3972)ctC>ctG	p.L1324L	EXPH5_ENST00000525344.1_Silent_p.L1317L|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Silent_p.L1136L|EXPH5_ENST00000428840.1_Silent_p.L1248L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1324					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.L1324L(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTCAGTGGTGAGCGTCTGAT	0.438																																						uc001pkk.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(3970-3972)CTC>CTG		exophilin 5 isoform a							77.0	82.0	81.0					11																	108382262		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382262G>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3972C>G	11.37:g.108382262G>C						EXPH5_uc010rvy.1_Silent_p.L1136L|EXPH5_uc010rvz.1_Silent_p.L1168L|EXPH5_uc010rwa.1_Silent_p.L1248L	p.L1324L	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4083	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1324					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.3972C>G	CCDS8341.1																																																																																				PASS	0.438	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		12	18	12	18	---	---	---	---
ARHGAP20	57569	broad.mit.edu	37	11	110456944	110456944	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:110456944G>C	ENST00000260283.4	-	13	1695	c.1411C>G	c.(1411-1413)Caa>Gaa	p.Q471E	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.Q445E|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.Q14E|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.Q435E|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.Q445E|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.Q435E|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.Q448E	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	471	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q471E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AATTACCTTTGAACAGTATTT	0.274																																						uc001pkz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(2)	5						c.(1411-1413)CAA>GAA		Rho GTPase activating protein 20							50.0	52.0	51.0					11																	110456944		2200	4286	6486	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110456944G>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1411C>G	11.37:g.110456944G>C	ENSP00000260283:p.Gln471Glu					ARHGAP20_uc001pky.1_Missense_Mutation_p.Q448E|ARHGAP20_uc009yyb.1_Missense_Mutation_p.Q435E|ARHGAP20_uc001pla.1_Missense_Mutation_p.Q435E|ARHGAP20_uc001plb.2_Missense_Mutation_p.Q14E	p.Q471E	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	13	1696	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	471			Rho-GAP.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.1411C>G	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470928	0.63625	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	6.08	4.11	0.48088	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.196576	0.43110	D	0.000607	T	0.35828	0.0945	M	0.70842	2.15	0.30793	N	0.740721	D;P;P	0.58268	0.982;0.935;0.92	P;P;P	0.52159	0.664;0.691;0.564	T	0.47749	-0.9093	10	0.66056	D	0.02	.	14.3354	0.66586	0.0:0.0:0.6148:0.3852	.	445;471;448	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	E	471;445;14;448;435;445;435	ENSP00000260283:Q471E;ENSP00000349660:Q445E;ENSP00000437905:Q14E;ENSP00000432076:Q448E;ENSP00000436319:Q435E;ENSP00000436522:Q445E;ENSP00000431399:Q435E	ENSP00000260283:Q471E	Q	-	1	0	ARHGAP20	109962154	1.000000	0.71417	0.925000	0.36789	0.760000	0.43138	3.095000	0.50235	1.535000	0.49220	0.650000	0.86243	CAA		PASS	0.274	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		5	28	5	28	---	---	---	---
APOA4	337	broad.mit.edu	37	11	116693478	116693478	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:116693478C>T	ENST00000357780.3	-	2	187	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	25					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)	p.D25N(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCCACCTGGTCAGCACTGACC	0.582																																						uc001pps.1																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)GAC>AAC		apolipoprotein A-IV precursor							116.0	100.0	105.0					11																	116693478		2201	4296	6497	SO:0001583	missense	337							g.chr11:116693478C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.73G>A	11.37:g.116693478C>T	ENSP00000350425:p.Asp25Asn						p.D25N	NM_000482	NP_000473				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	2	177	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.73G>A	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863711	0.71949	.	.	ENSG00000110244	ENST00000357780	T	0.79653	-1.29	5.19	5.19	0.71726	Apolipoprotein/apolipophorin (1);	0.079005	0.51477	D	0.000082	D	0.91192	0.7225	M	0.86420	2.815	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.92256	0.5813	10	0.72032	D	0.01	-28.6948	18.4737	0.90783	0.0:1.0:0.0:0.0	.	25	P06727	APOA4_HUMAN	N	25	ENSP00000350425:D25N	ENSP00000350425:D25N	D	-	1	0	APOA4	116198688	0.937000	0.31787	0.950000	0.38849	0.068000	0.16541	1.943000	0.40253	2.704000	0.92352	0.655000	0.94253	GAC		PASS	0.582	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		20	32	20	32	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121476146	121476146	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:121476146C>T	ENST00000260197.7	+	35	4943	c.4814C>T	c.(4813-4815)aCc>aTc	p.T1605I	SORL1_ENST00000532694.1_Missense_Mutation_p.T451I|SORL1_ENST00000527934.1_Missense_Mutation_p.T220I|SORL1_ENST00000534286.1_Missense_Mutation_p.T515I|SORL1_ENST00000525532.1_Missense_Mutation_p.T549I	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1605	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.T1605I(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTCTGGAGACCCACAGCAAT	0.453																																						uc001pxx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(4813-4815)ACC>ATC		sortilin-related receptor containing LDLR class							149.0	155.0	153.0					11																	121476146		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121476146C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4814C>T	11.37:g.121476146C>T	ENSP00000260197:p.Thr1605Ile					SORL1_uc010rzp.1_Missense_Mutation_p.T451I|SORL1_uc010rzq.1_Missense_Mutation_p.T220I	p.T1605I	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	35	4894	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1605			Extracellular (Potential).|Fibronectin type-III 1.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.4814C>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379603	0.82682	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.7	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	L	0.29908	0.895	0.53688	D	0.999975	D;P	0.61080	0.989;0.83	D;P	0.65443	0.935;0.447	T	0.65936	-0.6047	10	0.72032	D	0.01	.	16.406	0.83670	0.0:0.8682:0.1318:0.0	.	220;1605	E9PKB0;Q92673	.;SORL_HUMAN	I	1605;549;451;515;220	ENSP00000260197:T1605I;ENSP00000434634:T549I;ENSP00000432131:T451I;ENSP00000436447:T515I;ENSP00000435405:T220I	ENSP00000260197:T1605I	T	+	2	0	SORL1	120981356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.773000	0.68898	1.384000	0.46424	0.655000	0.94253	ACC		PASS	0.453	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		43	89	43	89	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121485651	121485651	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:121485651C>G	ENST00000260197.7	+	41	5620	c.5491C>G	c.(5491-5493)Ctg>Gtg	p.L1831V	SORL1_ENST00000532694.1_Missense_Mutation_p.L677V|SORL1_ENST00000527934.1_Missense_Mutation_p.L446V|SORL1_ENST00000534286.1_Missense_Mutation_p.L741V|SORL1_ENST00000525532.1_Missense_Mutation_p.L775V	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1831	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.L1831V(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGATAGCCCTCTGGCATTTGA	0.527																																						uc001pxx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(5491-5493)CTG>GTG		sortilin-related receptor containing LDLR class							114.0	97.0	103.0					11																	121485651		2202	4299	6501	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121485651C>G	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5491C>G	11.37:g.121485651C>G	ENSP00000260197:p.Leu1831Val					SORL1_uc010rzp.1_Missense_Mutation_p.L677V|SORL1_uc010rzq.1_Missense_Mutation_p.L446V	p.L1831V	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	41	5571	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1831			Extracellular (Potential).|Fibronectin type-III 3.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.5491C>G	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	1.938	-0.444373	0.04604	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.91	2.44	0.29823	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.163096	0.40064	N	0.001190	T	0.23054	0.0557	N	0.19112	0.55	0.34688	D	0.725458	B;B	0.25719	0.132;0.051	B;B	0.17098	0.017;0.01	T	0.29518	-1.0009	10	0.02654	T	1	.	7.1159	0.25416	0.0:0.6573:0.1283:0.2143	.	446;1831	E9PKB0;Q92673	.;SORL_HUMAN	V	1831;775;677;741;446	ENSP00000260197:L1831V;ENSP00000434634:L775V;ENSP00000432131:L677V;ENSP00000436447:L741V;ENSP00000435405:L446V	ENSP00000260197:L1831V	L	+	1	2	SORL1	120990861	0.740000	0.28207	0.999000	0.59377	0.995000	0.86356	0.625000	0.24477	0.769000	0.33313	0.655000	0.94253	CTG		PASS	0.527	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		18	39	18	39	---	---	---	---
OR6M1	390261	broad.mit.edu	37	11	123676886	123676886	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:123676886A>T	ENST00000309154.2	-	1	209	c.172T>A	c.(172-174)Tac>Aac	p.Y58N		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y58N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGGAAGAAGTACATTGGAGTT	0.423																																						uc010rzz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(172-174)TAC>AAC		olfactory receptor, family 6, subfamily M,							160.0	141.0	148.0					11																	123676886		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676886A>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.172T>A	11.37:g.123676886A>T	ENSP00000311038:p.Tyr58Asn						p.Y58N	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	172	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	58			Helical; Name=2; (Potential).		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.172T>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.618553	0.66787	.	.	ENSG00000196099	ENST00000309154	T	0.15603	2.41	3.55	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30639	U	0.009191	T	0.50599	0.1625	H	0.96805	3.885	0.36763	D	0.883399	D	0.71674	0.998	D	0.64410	0.925	T	0.69587	-0.5105	10	0.87932	D	0	.	10.0842	0.42408	1.0:0.0:0.0:0.0	.	58	Q8NGM8	OR6M1_HUMAN	N	58	ENSP00000311038:Y58N	ENSP00000311038:Y58N	Y	-	1	0	OR6M1	123182096	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.591000	0.90824	1.459000	0.47892	0.519000	0.50382	TAC		PASS	0.423	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		13	73	13	73	---	---	---	---
OR6T1	219874	broad.mit.edu	37	11	123814316	123814316	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:123814316A>T	ENST00000321252.2	-	1	264	c.230T>A	c.(229-231)gTg>gAg	p.V77E		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V77E(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTTGGGAACCACAACAGTTAC	0.488																																						uc010sab.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)GTG>GAG		olfactory receptor, family 6, subfamily T,							122.0	107.0	112.0					11																	123814316		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814316A>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.230T>A	11.37:g.123814316A>T	ENSP00000325203:p.Val77Glu						p.V77E	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	230	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	77			Extracellular (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.230T>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818732	0.50633	.	.	ENSG00000181499	ENST00000321252	T	0.01838	4.61	4.26	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11239	0.0274	M	0.87381	2.88	0.09310	N	1	D	0.63046	0.992	D	0.64237	0.923	T	0.05115	-1.0905	9	0.87932	D	0	-33.4962	7.152	0.25616	0.8898:0.0:0.1102:0.0	.	77	Q8NGN1	OR6T1_HUMAN	E	77	ENSP00000325203:V77E	ENSP00000325203:V77E	V	-	2	0	OR6T1	123319526	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.616000	0.24344	1.562000	0.49601	0.533000	0.62120	GTG		PASS	0.488	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		38	56	38	56	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123893820	123893820	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:123893820T>A	ENST00000375024.1	+	1	101	c.101T>A	c.(100-102)gTg>gAg	p.V34E		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V34E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGGTTTACGTGCTCACTGTG	0.572																																						uc010sad.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(100-102)GTG>GAG		olfactory receptor, family 10, subfamily G,							167.0	151.0	157.0					11																	123893820		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893820T>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.101T>A	11.37:g.123893820T>A	ENSP00000364164:p.Val34Glu						p.V34E	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	34			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000375024.1	37	c.101T>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.392215	0.42410	.	.	ENSG00000236981	ENST00000375024	T	0.03152	4.03	3.33	1.04	0.20106	.	0.946353	0.08678	N	0.909827	T	0.07503	0.0189	M	0.79805	2.47	0.09310	N	1	P	0.38370	0.628	B	0.37780	0.258	T	0.27088	-1.0084	10	0.87932	D	0	.	7.2111	0.25935	0.0:0.2951:0.0:0.7049	.	34	Q8NGN4	O10G9_HUMAN	E	34	ENSP00000364164:V34E	ENSP00000364164:V34E	V	+	2	0	OR10G9	123399030	0.062000	0.20869	0.018000	0.16275	0.508000	0.34012	2.678000	0.46900	0.481000	0.27557	0.533000	0.62120	GTG		PASS	0.572	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		13	68	13	68	---	---	---	---
Unknown	0	broad.mit.edu	37	11	124096236	124096236	+	IGR	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:124096236C>A								OR10D3 (39284 upstream) : OR8G1 (24186 downstream)																							TCTGTCAGCTCCATGGACCAG	0.478																																						uc010saf.1																			0					0						c.(838-840)TCC>TAC		olfactory receptor, family 8, subfamily G,							71.0	74.0	73.0					11																	124096236		1997	4217	6214	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124096236C>A																													11.37:g.124096236C>A							p.S280Y	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	839	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	280						Missense_Mutation	SNP		37	c.839C>A																																																																																				0	PASS	0.478									36	68	36	68	---	---	---	---
HEPACAM	220296	broad.mit.edu	37	11	124793658	124793658	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:124793658C>A	ENST00000298251.4	-	3	1081	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule									p.G226C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AGGCTGCGGCCCTGGCTGATG	0.577																																						uc001qbk.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(676-678)GGC>TGC		hepatocyte cell adhesion molecule precursor							69.0	63.0	65.0					11																	124793658		2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793658C>A	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.676G>T	11.37:g.124793658C>A	ENSP00000298251:p.Gly226Cys					HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.G226C	p.G226C	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	1082	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	226			Extracellular (Potential).|Ig-like C2-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.676G>T	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343029	0.61073	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.38560	1.13	5.41	5.41	0.78517	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.357339	0.35013	N	0.003515	T	0.58609	0.2134	M	0.68317	2.08	0.35838	D	0.825795	P;P	0.50943	0.94;0.78	P;B	0.54460	0.753;0.364	T	0.67745	-0.5591	10	0.56958	D	0.05	-11.2934	19.18	0.93619	0.0:1.0:0.0:0.0	.	226;226	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	C	226	ENSP00000298251:G226C	ENSP00000298251:G226C	G	-	1	0	HEPACAM	124298868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.555000	0.60767	2.524000	0.85096	0.655000	0.94253	GGC		PASS	0.577	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		5	25	5	25	---	---	---	---
KCNJ1	3758	broad.mit.edu	37	11	128710133	128710133	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr11:128710133G>C	ENST00000392664.2	-	2	179	c.63C>G	c.(61-63)ttC>ttG	p.F21L	KCNJ1_ENST00000440599.2_Missense_Mutation_p.F2L|KCNJ1_ENST00000392665.2_Missense_Mutation_p.F2L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.F2L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.F2L	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	21					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.F21L(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GAAGATGTTTGAACATACTTT	0.403																																						uc001qeo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(61-63)TTC>TTG		potassium inwardly-rectifying channel J1 isoform	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						87.0	84.0	85.0					11																	128710133		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128710133G>C	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.63C>G	11.37:g.128710133G>C	ENSP00000376432:p.Phe21Leu					KCNJ1_uc001qep.1_Missense_Mutation_p.F2L|KCNJ1_uc001qeq.1_Missense_Mutation_p.F2L|KCNJ1_uc001qer.1_Missense_Mutation_p.F2L|KCNJ1_uc001qes.1_Missense_Mutation_p.F2L	p.F21L	NM_000220	NP_000211	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	114	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	21			Cytoplasmic (By similarity).		B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.63C>G	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.199699	0.01581	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.93811	-2.42;-2.42;-2.42;-2.42;-2.4;-3.29	5.32	3.46	0.39613	.	0.637447	0.12071	N	0.502223	T	0.81221	0.4777	N	0.08118	0	0.36593	D	0.874229	B	0.02656	0.0	B	0.04013	0.001	T	0.71034	-0.4709	10	0.02654	T	1	.	6.1243	0.20170	0.2191:0.1347:0.6462:0.0	.	21	P48048	IRK1_HUMAN	L	2;2;2;2;21;2	ENSP00000376433:F2L;ENSP00000376434:F2L;ENSP00000406320:F2L;ENSP00000316233:F2L;ENSP00000376432:F21L;ENSP00000316136:F2L	ENSP00000316136:F2L	F	-	3	2	KCNJ1	128215343	1.000000	0.71417	0.994000	0.49952	0.166000	0.22503	2.007000	0.40883	0.644000	0.30656	-0.380000	0.06706	TTC		PASS	0.403	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		13	50	13	50	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	427394	427394	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:427394C>G	ENST00000399788.2	-	19	3137	c.2775G>C	c.(2773-2775)ctG>ctC	p.L925L	KDM5A_ENST00000382815.4_Silent_p.L925L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	925					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L925L(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGAGTCTATCAGCTTCTTCA	0.502			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(2773-2775)CTG>CTC		retinoblastoma binding protein 2 isoform 1							142.0	139.0	140.0					12																	427394		1934	4150	6084	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:427394C>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2775G>C	12.37:g.427394C>G						KDM5A_uc001qie.1_Silent_p.L925L|KDM5A_uc010sdn.1_Silent_p.L884L	p.L925L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			19	3138	-			925					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.2775G>C	CCDS41736.1																																																																																				PASS	0.502	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		57	39	57	39	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2693757	2693757	+	Missense_Mutation	SNP	G	G	T	rs377519371		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:2693757G>T	ENST00000347598.4	+	16	2313	c.2313G>T	c.(2311-2313)gaG>gaT	p.E771D	CACNA1C_ENST00000399597.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E771D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E771D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E796D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E771D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E771D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E771D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E771D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	771	Poly-Glu.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E771D(3)|p.E306D(1)|p.E801D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aggaggaagaggagaaggaga	0.547																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(2311-2313)GAG>GAT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						68.0	74.0	72.0					12																	2693757		1969	4179	6148	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2693757G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2313G>T	12.37:g.2693757G>T	ENSP00000266376:p.Glu771Asp					CACNA1C_uc009zdv.1_Missense_Mutation_p.E768D|CACNA1C_uc001qkb.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkc.2_Missense_Mutation_p.E771D|CACNA1C_uc001qke.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkf.2_Missense_Mutation_p.E771D|CACNA1C_uc001qjz.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkd.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkg.2_Missense_Mutation_p.E771D|CACNA1C_uc009zdw.1_Missense_Mutation_p.E771D|CACNA1C_uc001qkh.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkl.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkn.2_Missense_Mutation_p.E771D|CACNA1C_uc001qko.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkp.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkr.2_Missense_Mutation_p.E771D|CACNA1C_uc001qku.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkq.2_Missense_Mutation_p.E771D|CACNA1C_uc001qks.2_Missense_Mutation_p.E771D|CACNA1C_uc001qkt.2_Missense_Mutation_p.E771D|CACNA1C_uc001qka.1_Missense_Mutation_p.E306D|CACNA1C_uc001qki.1_Missense_Mutation_p.E507D|CACNA1C_uc001qkj.1_Missense_Mutation_p.E507D|CACNA1C_uc001qkk.1_Missense_Mutation_p.E507D|CACNA1C_uc001qkm.1_Missense_Mutation_p.E507D|CACNA1C_uc001qkw.2_Missense_Mutation_p.E60D	p.E771D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	16	2626	+			771			Cytoplasmic (Potential).|Poly-Glu.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.2313G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309681	0.60414	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.06;-4.05;-4.09;-4.07;-4.07;-4.06;-4.06;-3.97;-4.02;-4.07;-4.02;-4.0;-4.06;-4.13;-4.0;-3.9;-4.12;-4.07;-4.07;-4.09;-4.0;-4.09;-4.12	4.71	-0.225	0.13111	.	0.165377	0.52532	D	0.000075	D	0.96747	0.8938	M	0.68593	2.085	0.46981	D	0.999279	D;P;P;D;D;D;D;D;B;P;D;D;B;D;D;D;D;P;D;B;D;D;D;D;D;D	0.71674	0.996;0.734;0.893;0.982;0.993;0.998;0.996;0.998;0.099;0.868;0.998;0.996;0.203;0.996;0.994;0.996;0.99;0.507;0.998;0.166;0.99;0.998;0.998;0.996;0.974;0.996	D;B;P;D;D;D;D;D;B;P;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.81914	0.99;0.391;0.468;0.952;0.99;0.994;0.987;0.994;0.39;0.669;0.994;0.987;0.099;0.995;0.97;0.986;0.979;0.18;0.994;0.118;0.979;0.994;0.994;0.987;0.969;0.987	D	0.94724	0.7903	10	0.59425	D	0.04	.	8.5814	0.33630	0.4594:0.0:0.5406:0.0	.	771;768;771;771;771;771;771;771;771;771;771;771;742;771;771;771;771;771;771;771;771;771;771;771;771;771	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	796;771;771;771;771;771;771;771;771;771;771;771;771;771;771;771;771;771;771;771;771;771;771;612	ENSP00000336982:E796D;ENSP00000382563:E771D;ENSP00000437936:E771D;ENSP00000382552:E771D;ENSP00000382547:E771D;ENSP00000382506:E771D;ENSP00000382530:E771D;ENSP00000382546:E771D;ENSP00000382500:E771D;ENSP00000382549:E771D;ENSP00000266376:E771D;ENSP00000382515:E771D;ENSP00000382510:E771D;ENSP00000341092:E771D;ENSP00000382537:E771D;ENSP00000329877:E771D;ENSP00000382557:E771D;ENSP00000385724:E771D;ENSP00000382512:E771D;ENSP00000382542:E771D;ENSP00000382526:E771D;ENSP00000385896:E771D;ENSP00000382504:E771D	ENSP00000323129:E612D	E	+	3	2	CACNA1C	2564018	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	0.788000	0.26872	0.039000	0.15632	-0.367000	0.07326	GAG		PASS	0.547	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		19	45	19	45	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2702441	2702441	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:2702441C>T	ENST00000347598.4	+	19	2593	c.2593C>T	c.(2593-2595)Ctt>Ttt	p.L865F	CACNA1C_ENST00000399597.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L865F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L865F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L890F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L865F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399655.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L865F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L865F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L865F	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	865					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L865F(3)|p.L895F(1)|p.L400F(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTCTCTGAGCTTCACCTTAA	0.537																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(2593-2595)CTT>TTT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						67.0	67.0	67.0					12																	2702441		1992	4170	6162	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2702441C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2593C>T	12.37:g.2702441C>T	ENSP00000266376:p.Leu865Phe					CACNA1C_uc009zdv.1_Missense_Mutation_p.L862F|CACNA1C_uc001qkb.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkc.2_Missense_Mutation_p.L865F|CACNA1C_uc001qke.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkf.2_Missense_Mutation_p.L865F|CACNA1C_uc001qjz.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkd.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkg.2_Missense_Mutation_p.L865F|CACNA1C_uc009zdw.1_Missense_Mutation_p.L865F|CACNA1C_uc001qkh.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkl.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkn.2_Missense_Mutation_p.L865F|CACNA1C_uc001qko.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkp.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkr.2_Missense_Mutation_p.L865F|CACNA1C_uc001qku.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkq.2_Missense_Mutation_p.L865F|CACNA1C_uc001qks.2_Missense_Mutation_p.L865F|CACNA1C_uc001qkt.2_Missense_Mutation_p.L865F|CACNA1C_uc001qka.1_Missense_Mutation_p.L400F|CACNA1C_uc001qki.1_Missense_Mutation_p.L601F|CACNA1C_uc001qkj.1_Missense_Mutation_p.L601F|CACNA1C_uc001qkk.1_Missense_Mutation_p.L601F|CACNA1C_uc001qkm.1_Missense_Mutation_p.L601F|CACNA1C_uc001qkw.2_Missense_Mutation_p.L154F	p.L865F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	19	2906	+			865			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.2593C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046682	0.55110	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.08;-4.08;-4.05;-4.08;-4.05;-4.08;-4.09;-3.99;-4.03;-4.08;-3.98;-4.01;-4.08;-4.12;-3.99;-3.92;-4.13;-4.09;-4.08;-4.09;-4.0;-4.09;-4.13	4.86	3.89	0.44902	.	0.151398	0.45361	D	0.000380	D	0.97259	0.9104	M	0.71871	2.18	0.41717	D	0.989488	D;D;P;P;D;D;D;P;P;B;D;D;B;P;P;P;D;B;D;B;D;D;D;D;B;D	0.89917	1.0;0.985;0.563;0.933;0.999;0.974;0.968;0.954;0.69;0.185;0.974;0.96;0.033;0.954;0.933;0.923;0.96;0.264;0.974;0.136;0.96;0.974;0.974;0.968;0.275;0.968	D;P;B;P;D;P;P;P;B;B;P;P;B;P;B;P;P;B;P;B;P;P;P;P;B;P	0.85130	0.997;0.756;0.175;0.462;0.997;0.756;0.687;0.804;0.328;0.187;0.756;0.494;0.071;0.804;0.299;0.641;0.663;0.16;0.678;0.071;0.59;0.756;0.678;0.598;0.159;0.667	D	0.96634	0.9469	10	0.59425	D	0.04	.	10.0715	0.42337	0.0:0.834:0.0:0.166	.	865;862;865;865;865;865;865;865;865;865;865;865;836;865;865;865;865;865;865;865;865;865;865;865;865;865	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	F	890;865;865;865;865;865;865;865;865;865;865;865;865;865;865;865;865;865;865;865;865;865;865;706	ENSP00000336982:L890F;ENSP00000382563:L865F;ENSP00000437936:L865F;ENSP00000382552:L865F;ENSP00000382547:L865F;ENSP00000382506:L865F;ENSP00000382530:L865F;ENSP00000382546:L865F;ENSP00000382500:L865F;ENSP00000382549:L865F;ENSP00000266376:L865F;ENSP00000382515:L865F;ENSP00000382510:L865F;ENSP00000341092:L865F;ENSP00000382537:L865F;ENSP00000329877:L865F;ENSP00000382557:L865F;ENSP00000385724:L865F;ENSP00000382512:L865F;ENSP00000382542:L865F;ENSP00000382526:L865F;ENSP00000385896:L865F;ENSP00000382504:L865F	ENSP00000323129:L706F	L	+	1	0	CACNA1C	2572702	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.019000	0.41001	2.541000	0.85698	0.462000	0.41574	CTT		PASS	0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		5	33	5	33	---	---	---	---
FKBP4	2288	broad.mit.edu	37	12	2906971	2906971	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:2906971A>G	ENST00000001008.4	+	3	514	c.327A>G	c.(325-327)ccA>ccG	p.P109P	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	109	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)	p.P109P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CCTGCAAACCAGAATATGCCT	0.532																																						uc001qkz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(325-327)CCA>CCG		FK506 binding protein 52	Dimethyl sulfoxide(DB01093)						154.0	128.0	137.0					12																	2906971		2203	4300	6503	SO:0001819	synonymous_variant	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2906971A>G	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.327A>G	12.37:g.2906971A>G							p.P109P	NM_002014	NP_002005	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		3	525	+			109			PPIase FKBP-type 1.		D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	37	c.327A>G	CCDS8512.1																																																																																				PASS	0.532	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			14	111	14	111	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6138553	6138553	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:6138553C>A	ENST00000261405.5	-	22	3176	c.2922G>T	c.(2920-2922)tgG>tgT	p.W974C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	974	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.W974C(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTGGCGGTCCCAGACCACGG	0.542																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(2920-2922)TGG>TGT		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						146.0	133.0	137.0					12																	6138553		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6138553C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2922G>T	12.37:g.6138553C>A	ENSP00000261405:p.Trp974Cys					VWF_uc010set.1_Intron	p.W974C	NM_000552	NP_000543	P04275	VWF_HUMAN			22	3172	-			974			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2922G>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168322	0.57584	.	.	ENSG00000110799	ENST00000261405	T	0.61040	0.14	4.58	4.58	0.56647	von Willebrand factor, type D domain (3);	0.000000	0.36591	N	0.002507	D	0.84875	0.5569	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90887	0.4758	10	0.87932	D	0	.	16.5314	0.84361	0.0:1.0:0.0:0.0	.	974	P04275	VWF_HUMAN	C	974	ENSP00000261405:W974C	ENSP00000261405:W974C	W	-	3	0	VWF	6008814	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	7.280000	0.78610	2.370000	0.80446	0.484000	0.47621	TGG		PASS	0.542	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		106	52	106	52	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6138585	6138585	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:6138585G>A	ENST00000261405.5	-	22	3144	c.2890C>T	c.(2890-2892)Ctg>Ttg	p.L964L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	964	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.L964L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCAGCAGCAGAATGATGTAC	0.547																																						uc001qnn.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(2890-2892)CTG>TTG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						136.0	121.0	126.0					12																	6138585		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6138585G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2890C>T	12.37:g.6138585G>A						VWF_uc010set.1_Intron	p.L964L	NM_000552	NP_000543	P04275	VWF_HUMAN			22	3140	-			964			VWFD 3.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.2890C>T	CCDS8539.1																																																																																				PASS	0.547	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		80	42	80	42	---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6649720	6649720	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:6649720C>A	ENST00000396840.2	-	9	1650	c.1609G>T	c.(1609-1611)Gac>Tac	p.D537Y	RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000356896.4_Missense_Mutation_p.D541Y|IFFO1_ENST00000436152.2_Missense_Mutation_p.D234Y|IFFO1_ENST00000465801.1_Missense_Mutation_p.D233Y|RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000336604.4_Missense_Mutation_p.D540Y			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	537						intermediate filament (GO:0005882)		p.D537Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCGGCGGGTCGCTAAGCGGG	0.602																																						uc001qpd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1609-1611)GAC>TAC		intermediate filament family orphan isoform 2							45.0	46.0	46.0					12																	6649720		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6649720C>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1609G>T	12.37:g.6649720C>A	ENSP00000380052:p.Asp537Tyr					IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Missense_Mutation_p.D177Y|IFFO1_uc001qpb.1_Missense_Mutation_p.D214Y|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.D549Y|IFFO1_uc001qpf.1_Missense_Mutation_p.D540Y|IFFO1_uc001qoz.1_Missense_Mutation_p.D178Y|IFFO1_uc001qpc.1_Missense_Mutation_p.D541Y|IFFO1_uc001qpg.2_Silent_p.A176A	p.D537Y	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN			9	1643	-			537					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.1609G>T		.	.	.	.	.	.	.	.	.	.	C	19.25	3.790883	0.70452	.	.	ENSG00000010295	ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	D;D;D;D;D	0.91295	-2.73;-2.82;-2.41;-2.39;-2.48	4.84	4.84	0.62591	.	2.087670	0.02027	N	0.048277	D	0.92838	0.7722	L	0.29908	0.895	0.40293	D	0.978522	D;D;D;D;P	0.63880	0.993;0.993;0.993;0.993;0.927	P;P;P;P;B	0.58210	0.835;0.835;0.835;0.835;0.402	T	0.82814	-0.0271	10	0.66056	D	0.02	-18.3324	16.3086	0.82859	0.0:1.0:0.0:0.0	.	540;540;537;541;242	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.;.;IFFO1_HUMAN;.;.	Y	234;233;540;537;541;177	ENSP00000390721:D234Y;ENSP00000436261:D233Y;ENSP00000337593:D540Y;ENSP00000380052:D537Y;ENSP00000349364:D541Y	ENSP00000337593:D540Y	D	-	1	0	IFFO1	6519981	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.265000	0.51561	2.510000	0.84645	0.561000	0.74099	GAC		PASS	0.602	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		3	29	3	29	---	---	---	---
CD4	920	broad.mit.edu	37	12	6925470	6925470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:6925470C>T	ENST00000011653.4	+	6	1114	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	286	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)	p.Q286*(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CACCCTGCCCCAGGCCTTGCC	0.552																																						uc001qqv.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(856-858)CAG>TAG		CD4 antigen precursor							76.0	62.0	66.0					12																	6925470		2203	4300	6503	SO:0001587	stop_gained	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6925470C>T	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.856C>T	12.37:g.6925470C>T	ENSP00000011653:p.Gln286*					CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_Nonsense_Mutation_p.Q13*|CD4_uc009zfc.1_Nonsense_Mutation_p.Q107*|CD4_uc010sfk.1_Nonsense_Mutation_p.Q13*|CD4_uc010sfl.1_Nonsense_Mutation_p.Q13*|CD4_uc010sfm.1_Nonsense_Mutation_p.Q13*	p.Q286*	NM_000616	NP_000607	P01730	CD4_HUMAN			6	1101	+		Myeloproliferative disorder(1001;0.0122)	286			Extracellular (Potential).|Ig-like C2-type 2.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Nonsense_Mutation	SNP	ENST00000011653.4	37	c.856C>T	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	C	37	6.258592	0.97421	.	.	ENSG00000010610	ENST00000011653	.	.	.	5.19	1.06	0.20224	.	1.388890	0.04527	N	0.385737	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-5.4318	6.5449	0.22400	0.4589:0.4563:0.0:0.0848	.	.	.	.	X	286	.	ENSP00000011653:Q286X	Q	+	1	0	CD4	6795731	0.000000	0.05858	0.003000	0.11579	0.828000	0.46876	-0.080000	0.11339	-0.013000	0.14199	0.555000	0.69702	CAG		PASS	0.552	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		49	21	49	21	---	---	---	---
LPCAT3	10162	broad.mit.edu	37	12	7090191	7090191	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:7090191C>A	ENST00000261407.4	-	6	737	c.652G>T	c.(652-654)Gac>Tac	p.D218Y	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	218					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)	p.D218Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						CCTGGTATGTCAATCAGCTCT	0.473																																						uc001qsi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(652-654)GAC>TAC		lysophosphatidylcholine acyltransferase 3							159.0	155.0	157.0					12																	7090191		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7090191C>A	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.652G>T	12.37:g.7090191C>A	ENSP00000261407:p.Asp218Tyr					EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.D112Y|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Missense_Mutation_p.D76Y	p.D218Y	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN			6	766	-			218					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.652G>T	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767800	0.90020	.	.	ENSG00000111684	ENST00000261407	T	0.73469	-0.75	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	D	0.84065	0.5390	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.84052	0.0370	10	0.66056	D	0.02	-13.86	20.2422	0.98381	0.0:1.0:0.0:0.0	.	218	Q6P1A2	MBOA5_HUMAN	Y	218	ENSP00000261407:D218Y	ENSP00000261407:D218Y	D	-	1	0	LPCAT3	6960452	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	5.401000	0.66326	2.782000	0.95742	0.655000	0.94253	GAC		PASS	0.473	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		33	175	33	175	---	---	---	---
LPCAT3	10162	broad.mit.edu	37	12	7090202	7090202	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:7090202C>T	ENST00000261407.4	-	6	726	c.641G>A	c.(640-642)gGa>gAa	p.G214E	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	214					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)	p.G214E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AATCAGCTCTCCCTGCACCAG	0.478																																						uc001qsi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(640-642)GGA>GAA		lysophosphatidylcholine acyltransferase 3							152.0	148.0	150.0					12																	7090202		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7090202C>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.641G>A	12.37:g.7090202C>T	ENSP00000261407:p.Gly214Glu					EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.G108E|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Missense_Mutation_p.G72E	p.G214E	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN			6	755	-			214					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.641G>A	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025052	0.93518	.	.	ENSG00000111684	ENST00000261407	T	0.72725	-0.68	5.88	5.88	0.94601	.	0.070422	0.56097	D	0.000028	T	0.77558	0.4148	L	0.39898	1.24	0.80722	D	1	D	0.69078	0.997	D	0.64595	0.927	T	0.70099	-0.4965	10	0.17369	T	0.5	-18.2977	20.2422	0.98381	0.0:1.0:0.0:0.0	.	214	Q6P1A2	MBOA5_HUMAN	E	214	ENSP00000261407:G214E	ENSP00000261407:G214E	G	-	2	0	LPCAT3	6960463	1.000000	0.71417	0.988000	0.46212	0.944000	0.59088	7.088000	0.76901	2.782000	0.95742	0.655000	0.94253	GGA		PASS	0.478	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		22	161	22	161	---	---	---	---
C3AR1	719	broad.mit.edu	37	12	8212271	8212271	+	Nonsense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:8212271T>A	ENST00000307637.4	-	2	714	c.511A>T	c.(511-513)Aga>Tga	p.R171*		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	171					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R171*(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAGCCACATCTATTATGGTTG	0.443																																						uc001qtv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(511-513)AGA>TGA		complement component 3a receptor 1							120.0	111.0	114.0					12																	8212271		2203	4300	6503	SO:0001587	stop_gained	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212271T>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.511A>T	12.37:g.8212271T>A	ENSP00000302079:p.Arg171*						p.R171*	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	603	-			171			Extracellular (Potential).		O43771|Q92868	Nonsense_Mutation	SNP	ENST00000307637.4	37	c.511A>T	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178423	0.57692	.	.	ENSG00000171860	ENST00000307637	.	.	.	5.46	-8.6	0.00889	.	2.920250	0.01032	N	0.004146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	3.234	0.06758	0.2018:0.4241:0.2058:0.1683	.	.	.	.	X	171	.	ENSP00000302079:R171X	R	-	1	2	C3AR1	8103538	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.621000	0.02044	-1.206000	0.02641	0.533000	0.62120	AGA		PASS	0.443	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			24	85	24	85	---	---	---	---
PRH2	5555	broad.mit.edu	37	12	11081921	11081921	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:11081921C>A	ENST00000396400.3	+	1	87	c.49C>A	c.(49-51)Cag>Aag	p.Q17K	PRH2_ENST00000381847.3_Missense_Mutation_p.Q17K|PRR4_ENST00000536668.1_Intron	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	17	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space (GO:0005615)		p.Q17K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						CAGCTCAGCTCAGGACTTAGA	0.517																																						uc009zhr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)CAG>AAG		proline-rich protein HaeIII subfamily 2							98.0	94.0	95.0					12																	11081921		2203	4300	6503	SO:0001583	missense	5555					extracellular space	protein binding	g.chr12:11081921C>A		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.49C>A	12.37:g.11081921C>A	ENSP00000379682:p.Gln17Lys					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Missense_Mutation_p.Q17K|PRH2_uc001qzi.3_Missense_Mutation_p.Q17K	p.Q17K	NM_001110213	NP_001103683	P02810	PRPC_HUMAN			1	87	+			17			Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	c.49C>A	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	C	6.171	0.399788	0.11696	.	.	ENSG00000134551	ENST00000381847;ENST00000396400;ENST00000256972	T;T	0.24538	1.85;1.85	1.07	0.0154	0.14103	.	.	.	.	.	T	0.24547	0.0595	M	0.74647	2.275	0.09310	N	1	P;P	0.48694	0.914;0.914	B;B	0.39419	0.235;0.299	T	0.19095	-1.0316	9	0.87932	D	0	.	4.8239	0.13407	0.0:0.6013:0.3986:0.0	.	17;17	P02810;Q68D45	PRPC_HUMAN;.	K	17	ENSP00000371271:Q17K;ENSP00000379682:Q17K	ENSP00000256972:Q17K	Q	+	1	0	PRH2	10973188	0.005000	0.15991	0.005000	0.12908	0.009000	0.06853	0.788000	0.26872	0.017000	0.15025	0.393000	0.25936	CAG		PASS	0.517	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		35	74	35	74	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12303970	12303970	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:12303970G>A	ENST00000261349.4	-	13	2870	c.2794C>T	c.(2794-2796)Cct>Tct	p.P932S	LRP6_ENST00000543091.1_Missense_Mutation_p.P932S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	932					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P932S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAAGTCGTAGGAGCTTAAAAG	0.423																																						uc001rah.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(2794-2796)CCT>TCT		low density lipoprotein receptor-related protein							63.0	59.0	60.0					12																	12303970		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12303970G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2794C>T	12.37:g.12303970G>A	ENSP00000261349:p.Pro932Ser					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P932S	p.P932S	NM_002336	NP_002327	O75581	LRP6_HUMAN			13	2936	-		Prostate(47;0.0865)	932			Extracellular (Potential).		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2794C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810600	0.90707	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95447	-3.71;-3.71	5.32	5.32	0.75619	.	0.000000	0.64402	U	0.000019	D	0.95934	0.8676	L	0.31157	0.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.94881	0.8039	10	0.27785	T	0.31	.	18.9893	0.92784	0.0:0.0:1.0:0.0	.	932;932	F5H7J9;O75581	.;LRP6_HUMAN	S	932	ENSP00000261349:P932S;ENSP00000442472:P932S	ENSP00000261349:P932S	P	-	1	0	LRP6	12195237	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.512000	0.81728	2.482000	0.83794	0.591000	0.81541	CCT		PASS	0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			7	36	7	36	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13769432	13769432	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:13769432A>T	ENST00000609686.1	-	5	1494	c.1285T>A	c.(1285-1287)Tgc>Agc	p.C429S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	429					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.C429S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCCTCATGCAGGTTCCACTC	0.517																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(1285-1287)TGC>AGC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						188.0	155.0	167.0					12																	13769432		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13769432A>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1285T>A	12.37:g.13769432A>T	ENSP00000477455:p.Cys429Ser						p.C429S	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			5	1464	-			429			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1285T>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.841687	0.91197	.	.	ENSG00000150086	ENST00000279593	T	0.18174	2.23	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55062	-0.8199	10	0.87932	D	0	.	15.6645	0.77217	1.0:0.0:0.0:0.0	.	429	Q13224	NMDE2_HUMAN	S	429	ENSP00000279593:C429S	ENSP00000279593:C429S	C	-	1	0	GRIN2B	13660699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.334000	0.96470	2.086000	0.62901	0.460000	0.39030	TGC		PASS	0.517	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			16	42	16	42	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14577231	14577231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:14577231G>T	ENST00000540793.1	+	1	537	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.E136*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.E128*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.E128*|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.E128*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	128					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.E128*(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACTGCCTGCTGAACCAGTTTC	0.483																																						uc001rbw.2																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(382-384)GAA>TAA		activating transcription factor 7 interacting							63.0	70.0	68.0					12																	14577231		2201	4299	6500	SO:0001587	stop_gained	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14577231G>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.382G>T	12.37:g.14577231G>T	ENSP00000444589:p.Glu128*					ATF7IP_uc010shs.1_Nonsense_Mutation_p.E128*|ATF7IP_uc001rbu.2_Nonsense_Mutation_p.E128*|ATF7IP_uc001rbv.1_Nonsense_Mutation_p.E128*|ATF7IP_uc001rbx.2_Nonsense_Mutation_p.E128*|ATF7IP_uc010sht.1_Nonsense_Mutation_p.E128*|ATF7IP_uc001rby.3_Nonsense_Mutation_p.E128*|ATF7IP_uc001rbz.1_Nonsense_Mutation_p.E128*|ATF7IP_uc001rca.2_Nonsense_Mutation_p.E128*|ATF7IP_uc001rcb.2_5'Flank	p.E128*	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			2	540	+			128					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	ENST00000540793.1	37	c.382G>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191416	0.78902	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000542967;ENST00000534828;ENST00000544627;ENST00000541056;ENST00000539057;ENST00000545769;ENST00000396279;ENST00000542514;ENST00000540793	.	.	.	5.17	5.17	0.71159	.	0.122741	0.37178	N	0.002210	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.4971	18.3215	0.90239	0.0:0.0:1.0:0.0	.	.	.	.	X	128;128;128;128;128;136;128;128;128;128;128;128	.	ENSP00000261168:E128X	E	+	1	0	ATF7IP	14468498	0.803000	0.28956	0.881000	0.34555	0.365000	0.29674	1.200000	0.32247	2.793000	0.96121	0.563000	0.77884	GAA		PASS	0.483	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		29	21	29	21	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21958144	21958144	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:21958144A>C	ENST00000261201.4	-	38	4613	c.4614T>G	c.(4612-4614)aaT>aaG	p.N1538K	ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Missense_Mutation_p.N1502K	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1538	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.N1538K(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAAAGAGGCCATTCTTGTGGG	0.433																																						uc001rfi.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(4612-4614)AAT>AAG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						176.0	148.0	157.0					12																	21958144		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21958144A>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4614T>G	12.37:g.21958144A>C	ENSP00000261201:p.Asn1538Lys					ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.N1502K|ABCC9_uc001rfg.2_Intron	p.N1538K	NM_005691	NP_005682	O60706	ABCC9_HUMAN			38	4634	-			1538			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4614T>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.765411	0.31228	.	.	ENSG00000069431	ENST00000544039;ENST00000261201;ENST00000345162	D;D;D	0.90504	-2.68;-2.68;-2.68	5.96	2.42	0.29668	ABC transporter-like (1);	.	.	.	.	T	0.81809	0.4901	N	0.17345	0.48	0.27121	N	0.962138	B	0.14012	0.009	B	0.19946	0.027	T	0.70992	-0.4721	9	0.44086	T	0.13	.	7.8357	0.29368	0.6872:0.0:0.3128:0.0	.	1538	O60706	ABCC9_HUMAN	K	1165;1538;1502	ENSP00000440521:N1165K;ENSP00000261201:N1538K;ENSP00000261202:N1502K	ENSP00000261201:N1538K	N	-	3	2	ABCC9	21849411	0.993000	0.37304	1.000000	0.80357	0.821000	0.46438	0.410000	0.21098	0.519000	0.28406	-0.256000	0.11100	AAT		PASS	0.433	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		6	82	6	82	---	---	---	---
ARNTL2	56938	broad.mit.edu	37	12	27553476	27553476	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:27553476A>G	ENST00000266503.5	+	10	947	c.929A>G	c.(928-930)aAa>aGa	p.K310R	ARNTL2_ENST00000542388.1_Missense_Mutation_p.K225R|ARNTL2_ENST00000544915.1_Missense_Mutation_p.K276R|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.K296R|ARNTL2_ENST00000395901.2_Missense_Mutation_p.K273R|ARNTL2_ENST00000261178.5_Missense_Mutation_p.K262R|ARNTL2_ENST00000546179.1_Missense_Mutation_p.K273R			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	310					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.K310R(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GAGCACAGAAAATTCTATACT	0.289																																						uc001rht.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(928-930)AAA>AGA		aryl hydrocarbon receptor nuclear							50.0	54.0	53.0					12																	27553476		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27553476A>G	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.929A>G	12.37:g.27553476A>G	ENSP00000266503:p.Lys310Arg					ARNTL2_uc001rhw.2_Missense_Mutation_p.K273R|ARNTL2_uc010sjp.1_Missense_Mutation_p.K273R|ARNTL2_uc001rhu.1_Missense_Mutation_p.K296R|ARNTL2_uc009zji.1_Missense_Mutation_p.K276R|ARNTL2_uc001rhv.1_Missense_Mutation_p.K262R|uc001rhx.2_Intron	p.K310R	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			10	947	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		310					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.929A>G	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.750|8.750	0.920947|0.920947	0.17982|0.17982	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000457040	T;T;T;T;T;T;T|.	0.08282|.	3.23;3.24;3.11;3.21;3.24;3.21;3.25|.	3.87|3.87	2.73|2.73	0.32206|0.32206	.|.	0.507003|.	0.21297|.	N|.	0.076878|.	T|T	0.43722|0.43722	0.1260|0.1260	L|L	0.35542|0.35542	1.07|1.07	0.41174|0.41174	D|D	0.986181|0.986181	B;B;B;B;B;B|.	0.22414|.	0.069;0.022;0.019;0.019;0.05;0.025|.	B;B;B;B;B;B|.	0.27380|.	0.043;0.045;0.03;0.03;0.079;0.042|.	T|T	0.18493|0.18493	-1.0335|-1.0335	10|5	0.30078|.	T|.	0.28|.	.|.	6.8522|6.8522	0.24020|0.24020	0.8163:0.0:0.1837:0.0|0.8163:0.0:0.1837:0.0	.|.	273;276;273;262;296;310|.	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1|.	.;.;.;.;.;BMAL2_HUMAN|.	R|D	276;273;273;296;262;310;225|262	ENSP00000442438:K276R;ENSP00000379238:K273R;ENSP00000438545:K273R;ENSP00000312247:K296R;ENSP00000261178:K262R;ENSP00000266503:K310R;ENSP00000445836:K225R|.	ENSP00000261178:K262R|.	K|N	+|+	2|1	0|0	ARNTL2|ARNTL2	27444743|27444743	0.986000|0.986000	0.35501|0.35501	0.980000|0.980000	0.43619|0.43619	0.693000|0.693000	0.40251|0.40251	0.877000|0.877000	0.28106|0.28106	0.671000|0.671000	0.31185|0.31185	0.533000|0.533000	0.62120|0.62120	AAA|AAT		PASS	0.289	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		11	81	11	81	---	---	---	---
REP15	387849	broad.mit.edu	37	12	27849721	27849721	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:27849721C>A	ENST00000310791.2	+	1	294	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA|RP11-1060J15.4_ENST00000542660.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	76					receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	endosome membrane (GO:0010008)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)		p.L76M(1)		breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					TGATGAGTGGCTGACCACCAC	0.458																																						uc001rig.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(226-228)CTG>ATG		RAB15 effector protein							90.0	90.0	90.0					12																	27849721		2203	4300	6503	SO:0001583	missense	387849					early endosome membrane		g.chr12:27849721C>A	BC140921	CCDS31762.1	12p11.22	2010-09-02			ENSG00000174236	ENSG00000174236			33748	protein-coding gene	gene with protein product		610848				16195351	Standard	NM_001029874		Approved	RAB15EP	uc001rig.1	Q6BDI9		ENST00000310791.2:c.226C>A	12.37:g.27849721C>A	ENSP00000310335:p.Leu76Met						p.L76M	NM_001029874	NP_001025045	Q6BDI9	REP15_HUMAN			1	294	+	Lung SC(9;0.0873)		76					B2RU16	Missense_Mutation	SNP	ENST00000310791.2	37	c.226C>A	CCDS31762.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558720	0.45590	.	.	ENSG00000174236	ENST00000310791	T	0.44083	0.93	5.11	3.13	0.36017	.	0.285198	0.28036	N	0.016849	T	0.51719	0.1691	M	0.62723	1.935	0.28839	N	0.896683	D	0.61080	0.989	P	0.61201	0.885	T	0.45131	-0.9282	10	0.52906	T	0.07	-6.841	6.2545	0.20865	0.3379:0.5666:0.0:0.0956	.	76	Q6BDI9	REP15_HUMAN	M	76	ENSP00000310335:L76M	ENSP00000310335:L76M	L	+	1	2	REP15	27740988	0.572000	0.26668	0.991000	0.47740	0.718000	0.41266	1.066000	0.30604	1.374000	0.46228	0.650000	0.86243	CTG		PASS	0.458	REP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402894.1	NM_001029874		47	36	47	36	---	---	---	---
PTHLH	5744	broad.mit.edu	37	12	28116594	28116594	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:28116594C>T	ENST00000545234.1	-	5	751	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	PTHLH_ENST00000354417.3_Missense_Mutation_p.E71K|PTHLH_ENST00000395868.3_Missense_Mutation_p.E71K|PTHLH_ENST00000201015.4_Missense_Mutation_p.E71K|PTHLH_ENST00000535992.1_Missense_Mutation_p.E71K|PTHLH_ENST00000539239.1_Missense_Mutation_p.E71K|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.E71K|PTHLH_ENST00000395872.1_Missense_Mutation_p.E71K			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	71					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)	p.E71K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCTCTGATTTCAGCTGTGTGG	0.517																																						uc001rik.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(211-213)GAA>AAA		parathyroid hormone-like hormone isoform 1							182.0	183.0	182.0					12																	28116594		2203	4300	6503	SO:0001583	missense	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28116594C>T		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.211G>A	12.37:g.28116594C>T	ENSP00000441765:p.Glu71Lys					PTHLH_uc001ril.2_Missense_Mutation_p.E71K|PTHLH_uc001rim.2_Missense_Mutation_p.E71K|PTHLH_uc001rin.2_Missense_Mutation_p.E71K	p.E71K	NM_198966	NP_945317	P12272	PTHR_HUMAN			3	514	-	Lung SC(9;0.184)		71					Q15251|Q6FH74	Missense_Mutation	SNP	ENST00000545234.1	37	c.211G>A	CCDS44853.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876677	0.91664	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963;ENST00000534890	D;D;D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.83	5.83	0.93111	.	0.143291	0.64402	D	0.000008	D	0.88955	0.6578	L	0.50333	1.59	0.50313	D	0.999868	D	0.71674	0.998	D	0.69654	0.965	D	0.88489	0.3074	10	0.54805	T	0.06	-24.6898	19.0874	0.93209	0.0:1.0:0.0:0.0	.	71	P12272	PTHR_HUMAN	K	71;71;71;71;71;71;71;71;71;79	ENSP00000379213:E71K;ENSP00000441571:E71K;ENSP00000441765:E71K;ENSP00000441890:E71K;ENSP00000346398:E71K;ENSP00000201015:E71K;ENSP00000440613:E71K;ENSP00000379209:E71K;ENSP00000444519:E71K;ENSP00000445157:E79K	ENSP00000201015:E71K	E	-	1	0	PTHLH	28007861	0.999000	0.42202	0.862000	0.33874	0.959000	0.62525	4.534000	0.60622	2.762000	0.94881	0.585000	0.79938	GAA		PASS	0.517	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		89	92	89	92	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29639211	29639211	+	Silent	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:29639211T>C	ENST00000318184.5	-	8	962	c.963A>G	c.(961-963)caA>caG	p.Q321Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	321	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.Q321Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATTCACTTCTTGGACAGAAC	0.448																																						uc001rix.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(961-963)CAA>CAG		ovochymase 1 precursor							102.0	96.0	98.0					12																	29639211		1836	4091	5927	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29639211T>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.963A>G	12.37:g.29639211T>C							p.Q321Q	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			8	963	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		321			CUB 1.			Silent	SNP	ENST00000318184.5	37	c.963A>G																																																																																					PASS	0.448	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		25	117	25	117	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29659798	29659798	+	Missense_Mutation	SNP	C	C	G	rs79931373	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:29659798C>G	ENST00000539277.1	-	18	2688	c.2630G>C	c.(2629-2631)cGa>cCa	p.R877P	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Missense_Mutation_p.R769P|TMTC1_ENST00000551659.1_Missense_Mutation_p.R939P|TMTC1_ENST00000552618.1_Missense_Mutation_p.R901P	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	877						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R769P(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ATCCTTTTCTCGAACTTCTTG	0.453																																						uc001rjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2305-2307)CGA>CCA		transmembrane and tetratricopeptide repeat							291.0	276.0	281.0					12																	29659798		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29659798C>G		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2630G>C	12.37:g.29659798C>G	ENSP00000442046:p.Arg877Pro					TMTC1_uc001riz.2_Missense_Mutation_p.R526P|TMTC1_uc001rja.2_Missense_Mutation_p.R613P|TMTC1_uc001riy.2_Missense_Mutation_p.R222P	p.R769P	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			18	2780	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		877					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.2306G>C	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200015	0.38905	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.69306	-0.38;-0.14;-0.39;-0.27	5.13	0.653	0.17828	.	0.566102	0.16528	N	0.210512	T	0.42404	0.1201	N	0.14661	0.345	0.80722	D	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.12837	0.001;0.008;0.003	T	0.24941	-1.0146	10	0.49607	T	0.09	-2.0756	3.6007	0.08023	0.0:0.3668:0.1932:0.44	.	877;939;222	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	P	640;769;939;901;877	ENSP00000256062:R769P;ENSP00000448112:R939P;ENSP00000449043:R901P;ENSP00000442046:R877P	ENSP00000256062:R769P	R	-	2	0	TMTC1	29551065	0.960000	0.32886	0.994000	0.49952	0.997000	0.91878	0.256000	0.18351	0.556000	0.29098	0.650000	0.86243	CGA		PASS	0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		26	124	26	124	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32137137	32137137	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:32137137A>T	ENST00000312561.4	+	4	3662	c.3248A>T	c.(3247-3249)cAg>cTg	p.Q1083L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1083								p.Q1083L(1)									ACTACATACCAGACCTCAGAA	0.408																																						uc001rks.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3247-3249)CAG>CTG		hypothetical protein LOC55196							89.0	87.0	87.0					12																	32137137		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32137137A>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3248A>T	12.37:g.32137137A>T	ENSP00000310338:p.Gln1083Leu					C12orf35_uc001rkt.2_5'Flank	p.Q1083L	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	3662	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1083					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.3248A>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	12.58	1.980609	0.34942	.	.	ENSG00000174718	ENST00000312561	T	0.14640	2.49	5.37	-5.97	0.02227	.	2.000450	0.02308	N	0.071838	T	0.09992	0.0245	L	0.47716	1.5	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.28964	-1.0027	9	.	.	.	.	1.4254	0.02322	0.3748:0.3094:0.1506:0.1652	.	1083	Q9HCM1	CL035_HUMAN	L	1083	ENSP00000310338:Q1083L	.	Q	+	2	0	C12orf35	32028404	0.000000	0.05858	0.000000	0.03702	0.455000	0.32408	0.018000	0.13422	-0.621000	0.05633	-0.418000	0.06021	CAG		PASS	0.408	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		10	127	10	127	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	32974420	32974420	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:32974420T>C	ENST00000070846.6	-	10	2039	c.2015A>G	c.(2014-2016)aAg>aGg	p.K672R	PKP2_ENST00000340811.4_Missense_Mutation_p.K628R	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	672					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.K672R(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCCACGCCCTTGGGGTTGCT	0.478																																						uc001rlj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2014-2016)AAG>AGG		plakophilin 2 isoform 2b							87.0	74.0	79.0					12																	32974420		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32974420T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2015A>G	12.37:g.32974420T>C	ENSP00000070846:p.Lys672Arg					PKP2_uc001rlk.3_Missense_Mutation_p.K628R|PKP2_uc010skj.1_Missense_Mutation_p.K625R	p.K672R	NM_004572	NP_004563	Q99959	PKP2_HUMAN			10	2130	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		672			ARM 5.		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.2015A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.719797	0.30503	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.81499	-1.5;-1.5	4.99	3.8	0.43715	Armadillo-like helical (1);Armadillo-type fold (1);	0.652594	0.16166	N	0.226503	T	0.64034	0.2562	N	0.15975	0.35	0.22034	N	0.999405	B;B;B	0.13145	0.005;0.003;0.007	B;B;B	0.13407	0.009;0.004;0.006	T	0.52064	-0.8625	10	0.35671	T	0.21	-23.6714	7.844	0.29414	0.0:0.2294:0.0:0.7706	.	628;628;672	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	R	628;672;672	ENSP00000342800:K628R;ENSP00000070846:K672R	ENSP00000070846:K672R	K	-	2	0	PKP2	32865687	0.949000	0.32298	1.000000	0.80357	0.917000	0.54804	0.428000	0.21395	0.707000	0.31934	0.460000	0.39030	AAG		PASS	0.478	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		9	49	9	49	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41327314	41327314	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:41327314A>T	ENST00000551295.2	+	8	872	c.755A>T	c.(754-756)tAt>tTt	p.Y252F	CNTN1_ENST00000547702.1_Missense_Mutation_p.Y252F|CNTN1_ENST00000347616.1_Missense_Mutation_p.Y252F|CNTN1_ENST00000348761.2_Missense_Mutation_p.Y241F|CNTN1_ENST00000360099.3_Missense_Mutation_p.Y252F|CNTN1_ENST00000547849.1_Missense_Mutation_p.Y252F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	252	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.Y252F(1)|p.Y252C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGGATGTATATGCATTGATG	0.303																																						uc001rmm.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(754-756)TAT>TTT		contactin 1 isoform 1 precursor							147.0	148.0	148.0					12																	41327314		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41327314A>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.755A>T	12.37:g.41327314A>T	ENSP00000447006:p.Tyr252Phe					CNTN1_uc009zjy.1_Missense_Mutation_p.Y252F|CNTN1_uc001rmn.1_Missense_Mutation_p.Y241F|CNTN1_uc001rmo.2_Missense_Mutation_p.Y252F	p.Y252F	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			8	868	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	252			Ig-like C2-type 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.755A>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.808701	0.31961	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.27	4.04	0.47022	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.260709	0.40385	N	0.001107	T	0.51719	0.1691	L	0.39326	1.205	0.34483	D	0.704113	B;B;B	0.25206	0.12;0.01;0.012	B;B;B	0.29077	0.098;0.029;0.049	T	0.53472	-0.8434	10	0.13470	T	0.59	.	6.8129	0.23814	0.7703:0.1532:0.0766:0.0	.	252;241;252	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	F	252;252;252;252;252;241	ENSP00000448004:Y252F;ENSP00000447006:Y252F;ENSP00000448653:Y252F;ENSP00000325660:Y252F;ENSP00000353213:Y252F;ENSP00000261160:Y241F	ENSP00000325660:Y252F	Y	+	2	0	CNTN1	39613581	1.000000	0.71417	0.821000	0.32701	0.935000	0.57460	3.803000	0.55560	2.134000	0.65973	0.528000	0.53228	TAT		PASS	0.303	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		30	35	30	35	---	---	---	---
SLC38A1	81539	broad.mit.edu	37	12	46591814	46591814	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:46591814C>G	ENST00000398637.5	-	15	1846	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000439706.1_Missense_Mutation_p.K384N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.K384N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.K384N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.K384N	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	384					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.K384N(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACTTTGTTTTCTTAGCCAGTT	0.373																																						uc001rpa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1150-1152)AAG>AAC		amino acid transporter system A1							85.0	80.0	81.0					12																	46591814		1874	4108	5982	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46591814C>G	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1152G>C	12.37:g.46591814C>G	ENSP00000381634:p.Lys384Asn					SLC38A1_uc001rpb.2_Missense_Mutation_p.K384N|SLC38A1_uc001rpc.2_Missense_Mutation_p.K384N|SLC38A1_uc001rpd.2_Missense_Mutation_p.K384N|SLC38A1_uc001rpe.2_Missense_Mutation_p.K384N|SLC38A1_uc009zkj.1_Missense_Mutation_p.K384N	p.K384N	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		15	1410	-	Lung SC(27;0.137)|Renal(347;0.236)		384			Cytoplasmic (Potential).		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.1152G>C	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606522	0.28623	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02606	4.23;4.23;4.23;4.23;4.23	5.58	3.68	0.42216	.	0.598240	0.16699	N	0.203203	T	0.02156	0.0067	N	0.14661	0.345	0.33259	D	0.55948	B;B	0.19200	0.034;0.008	B;B	0.25614	0.062;0.027	T	0.36817	-0.9732	10	0.15066	T	0.55	-16.6357	9.7767	0.40623	0.0:0.7483:0.0:0.2517	.	384;384	F8VX04;Q9H2H9	.;S38A1_HUMAN	N	384	ENSP00000449607:K384N;ENSP00000398142:K384N;ENSP00000381634:K384N;ENSP00000447853:K384N;ENSP00000449756:K384N	ENSP00000381634:K384N	K	-	3	2	SLC38A1	44878081	0.978000	0.34361	1.000000	0.80357	0.985000	0.73830	0.550000	0.23345	0.645000	0.30675	-0.355000	0.07637	AAG		PASS	0.373	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			9	35	9	35	---	---	---	---
ADCY6	112	broad.mit.edu	37	12	49176824	49176824	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:49176824G>A	ENST00000307885.4	-	1	1088	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	ADCY6_ENST00000550422.1_Missense_Mutation_p.R132C|ADCY6_ENST00000357869.3_Missense_Mutation_p.R132C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	132					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)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R132C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGGCCGAACGGAACTGCTTC	0.667																																						uc001rsh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)CGT>TGT		adenylate cyclase 6 isoform a							41.0	45.0	44.0					12																	49176824		2202	4300	6502	SO:0001583	missense	112				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	ATP binding|metal ion binding	g.chr12:49176824G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.394C>T	12.37:g.49176824G>A	ENSP00000311405:p.Arg132Cys					ADCY6_uc001rsj.3_Missense_Mutation_p.R132C|ADCY6_uc001rsi.3_Missense_Mutation_p.R132C	p.R132C	NM_015270	NP_056085	O43306	ADCY6_HUMAN			1	1054	-			132			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.394C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707580	0.89018	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.77229	-1.08;-1.08;-1.08	4.56	4.56	0.56223	.	0.148834	0.47455	D	0.000222	T	0.72244	0.3436	N	0.08118	0	0.58432	D	0.999999	D;D	0.69078	0.994;0.997	P;P	0.55785	0.784;0.613	T	0.78826	-0.2051	10	0.59425	D	0.04	.	16.2561	0.82517	0.0:0.0:1.0:0.0	.	132;132	O43306-2;O43306	.;ADCY6_HUMAN	C	132	ENSP00000350536:R132C;ENSP00000446730:R132C;ENSP00000311405:R132C	ENSP00000311405:R132C	R	-	1	0	ADCY6	47463091	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.231000	0.95317	2.363000	0.80096	0.313000	0.20887	CGT		PASS	0.667	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		24	35	24	35	---	---	---	---
DDX23	9416	broad.mit.edu	37	12	49230475	49230475	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:49230475C>G	ENST00000308025.3	-	10	1192	c.1113G>C	c.(1111-1113)cgG>cgC	p.R371R	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	371					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R371R(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CACGGAAGATCCGCCAGTCCC	0.527																																						uc001rsm.2																			1	Substitution - coding silent(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(1111-1113)CGG>CGC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							160.0	141.0	148.0					12																	49230475		2203	4300	6503	SO:0001819	synonymous_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230475C>G	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1113G>C	12.37:g.49230475C>G							p.R371R	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			10	1204	-			371					B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	c.1113G>C	CCDS8770.1																																																																																				PASS	0.527	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		47	89	47	89	---	---	---	---
TMBIM6	7009	broad.mit.edu	37	12	50149493	50149493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:50149493G>T	ENST00000267115.5	+	4	326	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	TMBIM6_ENST00000395006.4_Nonsense_Mutation_p.E81*|TMBIM6_ENST00000552699.1_Nonsense_Mutation_p.E139*|TMBIM6_ENST00000423828.1_Nonsense_Mutation_p.E139*|TMBIM6_ENST00000547798.1_Nonsense_Mutation_p.E44*|TMBIM6_ENST00000549385.1_Nonsense_Mutation_p.E81*	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	81					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E139*(1)|p.E81*(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCATGAAACTGAACAGAAAAG	0.438																																						uc001rux.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(241-243)GAA>TAA		testis enhanced gene transcript (BAX inhibitor							204.0	203.0	203.0					12																	50149493		2203	4300	6503	SO:0001587	stop_gained	7009				apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		g.chr12:50149493G>T	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"""BAX inhibitor 1"""	600748	"""testis enhanced gene transcript"""	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.241G>T	12.37:g.50149493G>T	ENSP00000267115:p.Glu81*					TMBIM6_uc010sml.1_Nonsense_Mutation_p.E81*|TMBIM6_uc001ruy.2_Nonsense_Mutation_p.E139*|TMBIM6_uc001ruz.2_Nonsense_Mutation_p.E81*	p.E81*	NM_003217	NP_003208	P55061	BI1_HUMAN			4	373	+			81					B2R5M4|F8W034|O14938|Q643A7|Q96J50	Nonsense_Mutation	SNP	ENST00000267115.5	37	c.241G>T	CCDS31797.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188561	0.94923	.	.	ENSG00000139644	ENST00000546796;ENST00000549966;ENST00000547832;ENST00000547187;ENST00000546914;ENST00000552699;ENST00000267115;ENST00000541612;ENST00000549445;ENST00000549385;ENST00000548201;ENST00000423828;ENST00000542631;ENST00000550445;ENST00000549130;ENST00000552370;ENST00000395006;ENST00000547798	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.6545	0.91445	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;81;81;139;81;81;81;81;81;139;81;81;81;81;81;44	.	ENSP00000267115:E81X	E	+	1	0	TMBIM6	48435760	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.618000	0.90932	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.438	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405289.1	NM_003217		60	85	60	85	---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50186285	50186285	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:50186285A>T	ENST00000335999.6	-	12	3937	c.3736T>A	c.(3736-3738)Tcg>Acg	p.S1246T		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1242	Pro-rich.							p.S837T(1)|p.S1246T(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AGAGGGTCCGAGGAGCTGCCG	0.622																																						uc009zlk.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(3736-3738)TCG>ACG		NCK-associated protein 5-like							42.0	48.0	46.0					12																	50186285		1903	4122	6025	SO:0001583	missense	57701							g.chr12:50186285A>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3736T>A	12.37:g.50186285A>T	ENSP00000337998:p.Ser1246Thr					NCKAP5L_uc001rvc.3_Missense_Mutation_p.S450T|NCKAP5L_uc001rvb.2_Missense_Mutation_p.S839T	p.S1246T	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			12	3938	-			1242			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.3736T>A	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.533|4.533	0.098936|0.098936	0.08681|0.08681	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000433948|ENST00000335999;ENST00000354423	.|T	.|0.46819	.|0.86	4.52|4.52	-9.05|-9.05	0.00730|0.00730	.|.	.|1.306850	.|0.05278	.|N	.|0.518806	T|T	0.24275|0.24275	0.0588|0.0588	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.001;0.001;0.002	T|T	0.34453|0.34453	-0.9828|-0.9828	5|10	.|0.06494	.|T	.|0.89	-0.2565|-0.2565	10.4011|10.4011	0.44231|0.44231	0.1412:0.5297:0.0:0.3291|0.1412:0.5297:0.0:0.3291	.|.	.|1220;1242;1242	.|E2QRB5;Q9HCH0;Q9HCH0-2	.|.;NCK5L_HUMAN;.	H|T	960|1246;1220	.|ENSP00000337998:S1246T	.|ENSP00000337998:S1246T	L|S	-|-	2|1	0|0	NCKAP5L|NCKAP5L	48472552|48472552	0.006000|0.006000	0.16342|0.16342	0.002000|0.002000	0.10522|0.10522	0.947000|0.947000	0.59692|0.59692	-0.886000|-0.886000	0.04157|0.04157	-1.800000|-1.800000	0.01247|0.01247	0.459000|0.459000	0.35465|0.35465	CTC|TCG		PASS	0.622	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		10	14	10	14	---	---	---	---
GPD1	2819	broad.mit.edu	37	12	50498416	50498416	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:50498416C>A	ENST00000301149.3	+	2	333	c.101C>A	c.(100-102)cCa>cAa	p.P34Q	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.P34Q	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	34					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)	p.P34Q(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGTTTGACCCACGGGTGACC	0.557																																					NSCLC(141;1402 1905 9497 13391 44868)	uc001rvz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)CCA>CAA		glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)						102.0	96.0	98.0					12																	50498416		2203	4300	6503	SO:0001583	missense	2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50498416C>A		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.101C>A	12.37:g.50498416C>A	ENSP00000301149:p.Pro34Gln					GPD1_uc010smp.1_Missense_Mutation_p.P34Q|GPD1_uc001rwa.2_Missense_Mutation_p.P34Q	p.P34Q	NM_005276	NP_005267	P21695	GPDA_HUMAN			2	134	+			34					F8W1L5|Q8N1B0	Missense_Mutation	SNP	ENST00000301149.3	37	c.101C>A	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306433	0.40795	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.51071	0.72;0.72	5.7	5.7	0.88788	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.308537	0.35349	N	0.003262	T	0.43634	0.1256	L	0.52905	1.665	0.41298	D	0.987028	B;B;P	0.40000	0.19;0.098;0.698	B;B;B	0.40901	0.151;0.06;0.343	T	0.29941	-0.9995	10	0.32370	T	0.25	-8.1078	9.9008	0.41346	0.2856:0.5971:0.1172:0.0	.	34;34;34	B4DJ37;F8W1L5;P21695	.;.;GPDA_HUMAN	Q	34	ENSP00000301149:P34Q;ENSP00000446768:P34Q	ENSP00000301149:P34Q	P	+	2	0	GPD1	48784683	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.284000	0.18864	2.868000	0.98415	0.555000	0.69702	CCA		PASS	0.557	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			76	72	76	72	---	---	---	---
SLC4A8	9498	broad.mit.edu	37	12	51851227	51851228	+	Missense_Mutation	DNP	CA	CA	TC			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:51851227_51851228CA>TC	ENST00000453097.2	+	6	884_885	c.667_668CA>TC	c.(667-669)CAg>TCg	p.Q223S	SLC4A8_ENST00000394856.1_Missense_Mutation_p.Q170S|SLC4A8_ENST00000535225.2_Missense_Mutation_p.Q170S|SLC4A8_ENST00000514353.3_Missense_Mutation_p.Q170S|SLC4A8_ENST00000358657.3_Missense_Mutation_p.Q250S	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.Q223P(2)|p.Q223*(2)|p.Q223S(2)|p.Q170*(1)|p.Q170P(1)|p.Q170S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GCATCATCATCAGAATGAAAAG	0.45																																						uc001rys.1																			9	Substitution - Missense(6)|Substitution - Nonsense(3)		lung(9)	ovary(3)|pancreas(1)|skin(1)	5						c.(667-669)CAG>TAG|c.(667-669)CAG>CCG		solute carrier family 4, sodium bicarbonate																																				SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51851227C>T|g.chr12:51851228A>C	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	Exception_encountered	12.37:g.51851227_51851228delinsTC	ENSP00000405812:p.Gln223Ser					SLC4A8_uc010sni.1_Nonsense_Mutation_p.Q170*|SLC4A8_uc001rym.2_Nonsense_Mutation_p.Q170*|SLC4A8_uc001ryn.2_Nonsense_Mutation_p.Q170*|SLC4A8_uc001ryo.2_Nonsense_Mutation_p.Q170*|SLC4A8_uc001ryp.1_Nonsense_Mutation_p.Q170*|SLC4A8_uc010snj.1_Nonsense_Mutation_p.Q250*|SLC4A8_uc001ryq.3_Nonsense_Mutation_p.Q223*|SLC4A8_uc001ryr.2_Nonsense_Mutation_p.Q223*|SLC4A8_uc010snk.1_Nonsense_Mutation_p.Q170*|SLC4A8_uc010sni.1_Missense_Mutation_p.Q170P|SLC4A8_uc001rym.2_Missense_Mutation_p.Q170P|SLC4A8_uc001ryn.2_Missense_Mutation_p.Q170P|SLC4A8_uc001ryo.2_Missense_Mutation_p.Q170P|SLC4A8_uc001ryp.1_Missense_Mutation_p.Q170P|SLC4A8_uc010snj.1_Missense_Mutation_p.Q250P|SLC4A8_uc001ryq.3_Missense_Mutation_p.Q223P|SLC4A8_uc001ryr.2_Missense_Mutation_p.Q223P|SLC4A8_uc010snk.1_Missense_Mutation_p.Q170P	p.Q223*|p.Q223P	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	6	845|846	+			223			Extracellular (Potential).			Nonsense_Mutation|Missense_Mutation	SNP	ENST00000453097.2	37	c.667C>T|c.668A>C	CCDS44890.1																																																																																				PASS	0.450	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		31	74|77	31	74	---	---	---	---
KRT85	3891	broad.mit.edu	37	12	52758919	52758919	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:52758919C>T	ENST00000257901.3	-	2	531	c.456G>A	c.(454-456)gaG>gaA	p.E152E	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	152	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E152E(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCACTTGGTCTCCAGCAGCT	0.617																																						uc001sag.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(454-456)GAG>GAA		keratin 85							43.0	43.0	43.0					12																	52758919		2203	4300	6503	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758919C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.456G>A	12.37:g.52758919C>T							p.E152E	NM_002283	NP_002274	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	576	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		152			Rod.|Coil 1A.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.456G>A	CCDS8824.1																																																																																				PASS	0.617	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		25	22	25	22	---	---	---	---
KRT77	374454	broad.mit.edu	37	12	53096844	53096844	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:53096844C>G	ENST00000341809.3	-	1	403	c.375G>C	c.(373-375)ggG>ggC	p.G125G	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	125	Head.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G125G(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GACCAAAGCCCCCAAGCCCAA	0.577																																						uc001saw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(373-375)GGG>GGC		keratin 77							144.0	123.0	130.0					12																	53096844		2203	4300	6503	SO:0001819	synonymous_variant	374454					keratin filament	structural molecule activity	g.chr12:53096844C>G	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.375G>C	12.37:g.53096844C>G						KRT77_uc009zmi.2_5'UTR	p.G125G	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN			1	404	-			125			Head.		Q7RTS8	Silent	SNP	ENST00000341809.3	37	c.375G>C	CCDS8837.1																																																																																				PASS	0.577	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		11	76	11	76	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55794480	55794480	+	Silent	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:55794480T>A	ENST00000379665.2	+	1	267	c.168T>A	c.(166-168)ccT>ccA	p.P56P		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P56P(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TGAAAACTCCTATGTATTTCT	0.313																																						uc010spl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)CCT>CCA		olfactory receptor, family 6, subfamily C,							52.0	51.0	51.0					12																	55794480		2203	4298	6501	SO:0001819	synonymous_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794480T>A		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.168T>A	12.37:g.55794480T>A							p.P56P	NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN			1	168	+			56			Cytoplasmic (Potential).		B2RNH9	Silent	SNP	ENST00000379665.2	37	c.168T>A	CCDS31821.1																																																																																				PASS	0.313	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			7	26	7	26	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56094770	56094770	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:56094770C>T	ENST00000555728.1	-	4	611	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	ITGA7_ENST00000257880.7_Missense_Mutation_p.G195R|ITGA7_ENST00000257879.6_Missense_Mutation_p.G195R|ITGA7_ENST00000553804.1_Missense_Mutation_p.G195R|ITGA7_ENST00000394230.2_Missense_Mutation_p.G195R|ITGA7_ENST00000452168.2_Missense_Mutation_p.G98R|ITGA7_ENST00000347027.6_Missense_Mutation_p.G195R|ITGA7_ENST00000394229.2_Missense_Mutation_p.G195R			Q13683	ITA7_HUMAN	integrin, alpha 7	195					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.G195R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGGCAGAACCCAAATTGTTCA	0.582																																						uc001shh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(583-585)GGG>AGG		integrin alpha 7 isoform 1 precursor							116.0	106.0	109.0					12																	56094770		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56094770C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.583G>A	12.37:g.56094770C>T	ENSP00000452387:p.Gly195Arg					ITGA7_uc001shg.2_Missense_Mutation_p.G195R|ITGA7_uc010sps.1_Missense_Mutation_p.G98R|ITGA7_uc009znx.2_Missense_Mutation_p.G82R	p.G195R	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			4	803	-			195			FG-GAP 3.|Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.583G>A		.	.	.	.	.	.	.	.	.	.	C	25.4	4.635723	0.87760	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728;ENST00000557257	D;D;D;D;D;D;D;D;T	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;0.86	4.47	4.47	0.54385	.	0.142703	0.44483	D	0.000453	D	0.96417	0.8831	M	0.88842	2.985	0.80722	D	1	D;P;D;D	0.89917	1.0;0.94;0.999;0.999	D;P;D;D	0.87578	0.998;0.824;0.995;0.964	D	0.96988	0.9720	10	0.87932	D	0	.	15.0967	0.72242	0.0:1.0:0.0:0.0	.	98;195;195;258	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	R	195;195;195;98;195;195;195;195;195;37	ENSP00000452120:G195R;ENSP00000257879:G195R;ENSP00000343009:G195R;ENSP00000393844:G98R;ENSP00000257880:G195R;ENSP00000377777:G195R;ENSP00000377776:G195R;ENSP00000452387:G195R;ENSP00000450578:G37R	ENSP00000257879:G195R	G	-	1	0	ITGA7	54381037	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.601000	0.82783	2.505000	0.84491	0.555000	0.69702	GGG		PASS	0.582	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		4	53	4	53	---	---	---	---
MARS	4141	broad.mit.edu	37	12	57910229	57910229	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:57910229C>T	ENST00000262027.5	+	21	2702	c.2568C>T	c.(2566-2568)gtC>gtT	p.V856V	MIR616_ENST00000385293.1_RNA|RN7SL312P_ENST00000582079.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	856	WHEP-TRS.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.V856V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GAAACATTGTCCGAGAACTGA	0.483																																						uc001sog.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2566-2568)GTC>GTT		methionyl-tRNA synthetase	L-Methionine(DB00134)						61.0	60.0	60.0					12																	57910229		2203	4300	6503	SO:0001819	synonymous_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57910229C>T	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2568C>T	12.37:g.57910229C>T						MARS_uc001sof.1_RNA|MARS_uc001soh.1_3'UTR	p.V856V	NM_004990	NP_004981	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		21	2591	+			856			WHEP-TRS.		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	c.2568C>T	CCDS8942.1																																																																																				PASS	0.483	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		18	63	18	63	---	---	---	---
TBK1	29110	broad.mit.edu	37	12	64854058	64854058	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:64854058G>T	ENST00000331710.5	+	3	516	c.177G>T	c.(175-177)ttG>ttT	p.L59F		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|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)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L59F(2)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TTGAAGTGTTGAAAAAACTCA	0.284																																						uc001ssc.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5						c.(175-177)TTG>TTT		TANK-binding kinase 1							48.0	56.0	54.0					12																	64854058		2197	4269	6466	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64854058G>T	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.177G>T	12.37:g.64854058G>T	ENSP00000329967:p.Leu59Phe						p.L59F	NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	3	239	+			59			Protein kinase.		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.177G>T	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503015	0.64298	.	.	ENSG00000183735	ENST00000331710;ENST00000538890;ENST00000540417;ENST00000539810	T;T;T;D	0.95377	0.55;2.76;2.76;-3.69	5.28	4.12	0.48240	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.98043	0.9355	H	0.95504	3.68	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	D	0.97533	1.0081	9	.	.	.	-4.9134	8.2294	0.31589	0.8075:0.0:0.1925:0.0	.	59	Q9UHD2	TBK1_HUMAN	F	59;59;59;7	ENSP00000329967:L59F;ENSP00000445834:L59F;ENSP00000445628:L59F;ENSP00000444428:L7F	.	L	+	3	2	TBK1	63140325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.898000	0.48672	0.929000	0.37192	0.460000	0.39030	TTG		PASS	0.284	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		10	42	10	42	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71092078	71092078	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:71092078C>G	ENST00000283228.2	-	8	1698	c.1246G>C	c.(1246-1248)Gga>Cga	p.G416R	PTPRR_ENST00000549308.1_Missense_Mutation_p.G171R|PTPRR_ENST00000378778.1_Missense_Mutation_p.G210R|PTPRR_ENST00000440835.2_Missense_Mutation_p.G171R|PTPRR_ENST00000342084.4_Missense_Mutation_p.G304R	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	416	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G416R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTTTTAGTTCCATGACGCGGA	0.353																																						uc001swi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1246-1248)GGA>CGA		protein tyrosine phosphatase, receptor type, R							87.0	88.0	87.0					12																	71092078		2202	4300	6502	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71092078C>G	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1246G>C	12.37:g.71092078C>G	ENSP00000283228:p.Gly416Arg					PTPRR_uc001swh.1_Missense_Mutation_p.G171R|PTPRR_uc009zrs.2_Missense_Mutation_p.G265R|PTPRR_uc010stq.1_Missense_Mutation_p.G304R|PTPRR_uc010str.1_Missense_Mutation_p.G265R	p.G416R	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	8	1662	-			416			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1246G>C	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109167	0.77096	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.79	5.79	0.91817	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.125103	0.35555	N	0.003140	T	0.42607	0.1210	N	0.20483	0.58	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	0.16100	-1.0414	10	0.25106	T	0.35	-11.368	20.0341	0.97551	0.0:1.0:0.0:0.0	.	265;304;210;416	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	R	171;416;210;304;171;171	ENSP00000391750:G171R;ENSP00000283228:G416R;ENSP00000368054:G210R;ENSP00000339605:G304R;ENSP00000446943:G171R;ENSP00000449616:G171R	ENSP00000283228:G416R	G	-	1	0	PTPRR	69378345	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.751000	0.74893	2.753000	0.94483	0.555000	0.69702	GGA		PASS	0.353	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		4	29	4	29	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85432046	85432046	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:85432046G>T	ENST00000393217.2	+	2	153	c.92G>T	c.(91-93)aGt>aTt	p.S31I	TSPAN19_ENST00000547403.2_5'Flank|TSPAN19_ENST00000532498.2_5'Flank	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	31								p.S31I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GACATTGAGAGTGATGCAAAA	0.373																																						uc001tac.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(91-93)AGT>ATT		leucine-rich repeats and IQ motif containing 1							121.0	119.0	120.0					12																	85432046		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85432046G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.92G>T	12.37:g.85432046G>T	ENSP00000376910:p.Ser31Ile					LRRIQ1_uc001tab.1_Missense_Mutation_p.S31I|TSPAN19_uc009zsj.2_5'Flank|LRRIQ1_uc001taa.1_Missense_Mutation_p.S31I|LRRIQ1_uc001tad.2_5'Flank	p.S31I	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	2	203	+			31					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.92G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823546	0.32237	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.54479	0.81;0.57	4.55	2.53	0.30540	.	0.504238	0.17825	N	0.160730	T	0.50531	0.1621	L	0.42245	1.32	0.25357	N	0.988818	D;P	0.61697	0.99;0.481	P;B	0.54664	0.758;0.131	T	0.41233	-0.9520	10	0.72032	D	0.01	.	3.3972	0.07310	0.1057:0.1652:0.5606:0.1684	.	31;31	Q96JM4;C9JI57	LRIQ1_HUMAN;.	I	31	ENSP00000376906:S31I;ENSP00000376910:S31I	ENSP00000256007:S31I	S	+	2	0	LRRIQ1	83956177	0.983000	0.35010	0.992000	0.48379	0.226000	0.24999	0.555000	0.23422	0.984000	0.38629	0.650000	0.86243	AGT		PASS	0.373	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		23	31	23	31	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104190720	104190720	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:104190720G>C	ENST00000392876.3	-	6	745	c.705C>G	c.(703-705)ctC>ctG	p.L235L	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	235						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L160L(1)|p.L235L(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TGTTGTTCTTGAGGAAGTATT	0.478																																						uc010swe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(703-705)CTC>CTG		5'-nucleotidase domain containing 3							200.0	171.0	181.0					12																	104190720		2203	4300	6503	SO:0001819	synonymous_variant	51559						hydrolase activity|metal ion binding	g.chr12:104190720G>C	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.705C>G	12.37:g.104190720G>C							p.L235L	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			6	746	-			235					Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	ENST00000392876.3	37	c.705C>G	CCDS41824.1																																																																																				PASS	0.478	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		26	53	26	53	---	---	---	---
APPL2	55198	broad.mit.edu	37	12	105600901	105600901	+	Missense_Mutation	SNP	C	C	A	rs558129964		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:105600901C>A	ENST00000258530.3	-	8	784	c.559G>T	c.(559-561)Gcg>Tcg	p.A187S	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.A144S|APPL2_ENST00000551662.1_Missense_Mutation_p.A193S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.A187S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TACTGCAGCGCGTTGAGGGCA	0.567																																						uc001tlf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(559-561)GCG>TCG		adaptor protein, phosphotyrosine interaction, PH							104.0	90.0	95.0					12																	105600901		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105600901C>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.559G>T	12.37:g.105600901C>A	ENSP00000258530:p.Ala187Ser					APPL2_uc010swt.1_Missense_Mutation_p.A144S|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.A193S|APPL2_uc009zuq.2_Missense_Mutation_p.A144S	p.A187S	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			8	777	-			187			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.559G>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339036	0.60963	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.04119	3.7;3.7;3.7	6.17	5.29	0.74685	.	0.047898	0.85682	D	0.000000	T	0.12689	0.0308	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.31420	-0.9944	10	0.21540	T	0.41	-14.4836	15.6272	0.76870	0.0:0.9346:0.0:0.0653	.	193;144;187	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	S	187;144;193	ENSP00000258530:A187S;ENSP00000444472:A144S;ENSP00000446917:A193S	ENSP00000258530:A187S	A	-	1	0	APPL2	104125031	1.000000	0.71417	0.562000	0.28370	0.977000	0.68977	4.098000	0.57748	1.632000	0.50472	-0.140000	0.14226	GCG		PASS	0.567	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		13	30	13	30	---	---	---	---
NUAK1	9891	broad.mit.edu	37	12	106460588	106460588	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:106460588G>C	ENST00000261402.2	-	7	3357	c.1978C>G	c.(1978-1980)Ctc>Gtc	p.L660V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	660					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.L660V(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGCTAGTTGAGCTTGCTGCAG	0.612																																						uc001tlj.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1978-1980)CTC>GTC		AMPK-related protein kinase 5							86.0	91.0	89.0					12																	106460588		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460588G>C	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1978C>G	12.37:g.106460588G>C	ENSP00000261402:p.Leu660Val						p.L660V	NM_014840	NP_055655	O60285	NUAK1_HUMAN			7	3358	-			660					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1978C>G	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511116	0.85389	.	.	ENSG00000074590	ENST00000261402	T	0.80909	-1.43	5.8	5.8	0.92144	.	0.000000	0.53938	D	0.000050	D	0.88779	0.6529	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.88933	0.3374	10	0.87932	D	0	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	660	O60285	NUAK1_HUMAN	V	660	ENSP00000261402:L660V	ENSP00000261402:L660V	L	-	1	0	NUAK1	104984718	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.230000	0.95299	2.755000	0.94549	0.655000	0.94253	CTC		PASS	0.612	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		9	91	9	91	---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106824224	106824224	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:106824224G>A	ENST00000228347.4	+	14	1659	c.1437G>A	c.(1435-1437)ctG>ctA	p.L479L	POLR3B_ENST00000539066.1_Silent_p.L421L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	479					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L479L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGGGAATGCTGTGTCCTTCGG	0.522																																						uc001tlp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1435-1437)CTG>CTA		DNA-directed RNA polymerase III B isoform 1							97.0	89.0	91.0					12																	106824224		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106824224G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1437G>A	12.37:g.106824224G>A						POLR3B_uc001tlq.2_Silent_p.L421L	p.L479L	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			14	1659	+			479					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.1437G>A	CCDS9105.1																																																																																				PASS	0.522	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		26	43	26	43	---	---	---	---
CMKLR1	1240	broad.mit.edu	37	12	108685783	108685783	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:108685783C>A	ENST00000312143.7	-	3	1320	c.957G>T	c.(955-957)atG>atT	p.M319I	CMKLR1_ENST00000550402.1_Missense_Mutation_p.M319I|CMKLR1_ENST00000552995.1_Missense_Mutation_p.M317I|CMKLR1_ENST00000412676.1_Missense_Mutation_p.M319I|CMKLR1_ENST00000397688.2_Missense_Mutation_p.M317I	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	319					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.M317I(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGTCCTGACCCATGAAAACAT	0.537																																						uc009zuw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(955-957)ATG>ATT		chemokine-like receptor 1 isoform a							81.0	83.0	82.0					12																	108685783		1978	4160	6138	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108685783C>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.957G>T	12.37:g.108685783C>A	ENSP00000311733:p.Met319Ile					CMKLR1_uc001tmw.2_Missense_Mutation_p.M319I|CMKLR1_uc001tmv.2_Missense_Mutation_p.M317I|CMKLR1_uc009zuv.2_Missense_Mutation_p.M319I	p.M319I	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	1148	-			319			Helical; Name=7; (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.957G>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.480622	0.44044	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.36	5.36	0.76844	.	0.215784	0.49305	D	0.000157	T	0.34279	0.0892	L	0.41492	1.28	0.43476	D	0.995696	B	0.28713	0.22	B	0.32393	0.145	T	0.06991	-1.0796	10	0.25106	T	0.35	.	18.0847	0.89454	0.0:1.0:0.0:0.0	.	319	Q99788	CML1_HUMAN	I	319;319;317;317;319	ENSP00000311733:M319I;ENSP00000401293:M319I;ENSP00000380803:M317I;ENSP00000447579:M317I;ENSP00000449716:M319I	ENSP00000311733:M319I	M	-	3	0	CMKLR1	107209913	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.990000	0.70595	2.499000	0.84300	0.556000	0.70494	ATG		PASS	0.537	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			23	33	23	33	---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109843825	109843825	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:109843825C>T	ENST00000431443.2	+	7	900	c.900C>T	c.(898-900)atC>atT	p.I300I	MYO1H_ENST00000310903.5_Silent_p.I300I|MYO1H_ENST00000542883.1_3'UTR	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	300	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I300I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCCATGAGATCAAGTGGATAG	0.522																																						uc010sxn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(898-900)ATC>ATT		myosin 1H							75.0	70.0	71.0					12																	109843825		1947	4148	6095	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109843825C>T		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.900C>T	12.37:g.109843825C>T							p.I300I	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			7	900	+			Error:Variant_position_missing_in_B4DNW6_after_alignment					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.900C>T																																																																																					PASS	0.522	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		16	23	16	23	---	---	---	---
C12orf76	400073	broad.mit.edu	37	12	110495092	110495092	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:110495092C>T	ENST00000309050.5	-	4	565	c.201G>A	c.(199-201)aaG>aaA	p.K67K	C12orf76_ENST00000548191.1_Intron|C12orf76_ENST00000548936.1_Intron	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	67								p.K67K(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						TCCTCTCCCCCTTACAGCTCC	0.522																																						uc001tqd.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(199-201)AAG>AAA		hypothetical protein LOC400073							102.0	72.0	83.0					12																	110495092		2203	4300	6503	SO:0001819	synonymous_variant	400073							g.chr12:110495092C>T	BC041968	CCDS9141.1	12q24.11	2012-08-16			ENSG00000174456	ENSG00000174456			33790	protein-coding gene	gene with protein product							Standard	NM_207435		Approved	FLJ40142	uc001tqe.2	Q8N812	OTTHUMG00000169315	ENST00000309050.5:c.201G>A	12.37:g.110495092C>T						C12orf76_uc001tqe.1_RNA|C12orf76_uc010sxx.1_RNA|uc001tqf.1_Intron	p.K67K	NM_207435	NP_997318	Q8N812	CL076_HUMAN			4	566	-			67						Silent	SNP	ENST00000309050.5	37	c.201G>A	CCDS9141.1																																																																																				PASS	0.522	C12orf76-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403439.2	NM_207435		4	12	4	12	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112654880	112654880	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:112654880G>A	ENST00000430131.2	-	45	7073	c.5928C>T	c.(5926-5928)ccC>ccT	p.P1976P	HECTD4_ENST00000550722.1_Silent_p.P2252P|HECTD4_ENST00000377560.5_Silent_p.P2226P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1976					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P2226P(1)|p.P1976P(1)									AAGTGCCCCGGGGCAGGCCTC	0.547																																						uc009zwc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(5926-5928)CCC>CCT		chromosome 12 open reading frame 51							25.0	28.0	27.0					12																	112654880		1914	4130	6044	SO:0001819	synonymous_variant	283450							g.chr12:112654880G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5928C>T	12.37:g.112654880G>A						C12orf51_uc001ttr.1_Silent_p.P151P	p.P1976P	NM_001109662	NP_001103132					39	5946	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.5928C>T		.	.	.	.	.	.	.	.	.	.	G	9.844	1.191865	0.21954	.	.	ENSG00000173064	ENST00000550968	.	.	.	5.81	0.688	0.18027	.	.	.	.	.	T	0.58963	0.2159	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58482	-0.7629	5	0.72032	D	0.01	.	5.1165	0.14836	0.4247:0.0:0.4397:0.1356	.	.	.	.	L	143	.	ENSP00000449652:P143L	P	-	2	0	C12orf51	111139263	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.650000	0.24858	0.387000	0.25024	0.655000	0.94253	CCC		PASS	0.547	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		10	17	10	17	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115114170	115114170	+	Silent	SNP	G	G	A	rs367844041		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:115114170G>A	ENST00000257566.3	-	6	1436	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	TBX3_ENST00000349155.2_Silent_p.F329F	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	349					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F349F(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AAGCCTGGGCGAAGCAGTTGA	0.527																																						uc001tvt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1045-1047)TTC>TTT		T-box 3 protein isoform 2		G	,	0,4406		0,0,2203	142.0	132.0	136.0		987,1047	-7.3	0.5	12		136	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TBX3	NM_005996.3,NM_016569.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	329/724,349/744	115114170	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115114170G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1047C>T	12.37:g.115114170G>A						TBX3_uc001tvu.1_Silent_p.F329F	p.F349F	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	6	2011	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		349					Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	c.1047C>T	CCDS9176.1																																																																																				PASS	0.527	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		15	48	15	48	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115120647	115120647	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:115120647C>A	ENST00000257566.3	-	1	748	c.359G>T	c.(358-360)gGc>gTc	p.G120V	TBX3_ENST00000349155.2_Missense_Mutation_p.G120V	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	120					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G120V(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CATCTCGGTGCCCCGCTTGTG	0.547																																						uc001tvt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(358-360)GGC>GTC		T-box 3 protein isoform 2							51.0	54.0	53.0					12																	115120647		2202	4298	6500	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120647C>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.359G>T	12.37:g.115120647C>A	ENSP00000257566:p.Gly120Val					TBX3_uc001tvu.1_Missense_Mutation_p.G120V|TBX3_uc010syw.1_Missense_Mutation_p.G120V	p.G120V	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1323	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		120			T-box; first part.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.359G>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651414	0.88056	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88431	-2.38;-2.38	5.35	5.35	0.76521	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95872	0.8656	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96587	0.9435	10	0.87932	D	0	.	19.0625	0.93099	0.0:1.0:0.0:0.0	.	120;120;120	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	V	120	ENSP00000257567:G120V;ENSP00000257566:G120V	ENSP00000257566:G120V	G	-	2	0	TBX3	113605030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.727000	0.68523	2.497000	0.84241	0.563000	0.77884	GGC		PASS	0.547	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		13	30	13	30	---	---	---	---
HSPB8	26353	broad.mit.edu	37	12	119624881	119624881	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:119624881C>A	ENST00000281938.2	+	2	1090	c.419C>A	c.(418-420)aCa>aAa	p.T140K	HSPB8_ENST00000542496.1_3'UTR	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	140					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.T140K(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAACTTCACAAAGAAAATC	0.507																																						uc001txb.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(418-420)ACA>AAA		heat shock 22kDa protein 8							92.0	87.0	89.0					12																	119624881		2203	4300	6503	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119624881C>A	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.419C>A	12.37:g.119624881C>A	ENSP00000281938:p.Thr140Lys					HSPB8_uc001txc.2_Intron	p.T140K	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN			2	942	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		140					B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.419C>A	CCDS9189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.871581|4.871581	0.91587|0.91587	.|.	.|.	ENSG00000152137|ENSG00000152137	ENST00000541798|ENST00000281938	.|D	.|0.91843	.|-2.92	5.7|5.7	5.7|5.7	0.88788|0.88788	.|Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93697|0.93697	0.7986|0.7986	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	.|D	.|0.52996	.|0.957	.|P	.|0.59424	.|0.857	D|D	0.92535|0.92535	0.6037|0.6037	5|9	.|.	.|.	.|.	.|.	18.0216|18.0216	0.89257|0.89257	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|140	.|Q9UJY1	.|HSPB8_HUMAN	K|K	48|140	.|ENSP00000281938:T140K	.|.	Q|T	+|+	1|2	0|0	HSPB8|HSPB8	118109264|118109264	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.913000|0.913000	0.54294|0.54294	7.093000|7.093000	0.76937|0.76937	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	CAA|ACA		PASS	0.507	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		31	35	31	35	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124303771	124303771	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:124303771G>T	ENST00000409039.3	+	22	3645	c.3620G>T	c.(3619-3621)gGt>gTt	p.G1207V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1207	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G1207V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGGCCCTGGTTCTGTTGGT	0.388																																						uc001uft.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3619-3621)GGT>GTT		dynein, axonemal, heavy chain 10							169.0	165.0	166.0					12																	124303771		1937	4147	6084	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124303771G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3620G>T	12.37:g.124303771G>T	ENSP00000386770:p.Gly1207Val						p.G1207V	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	22	3645	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1207			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3620G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133066	0.56828	.	.	ENSG00000197653	ENST00000409039	T	0.20463	2.07	5.18	5.18	0.71444	.	.	.	.	.	T	0.43478	0.1249	M	0.86268	2.805	0.80722	D	1	D	0.63046	0.992	P	0.56563	0.801	T	0.43015	-0.9417	9	0.16896	T	0.51	.	16.8684	0.86035	0.0:0.0:1.0:0.0	.	1207	Q8IVF4	DYH10_HUMAN	V	1207	ENSP00000386770:G1207V	ENSP00000386770:G1207V	G	+	2	0	DNAH10	122869724	1.000000	0.71417	0.783000	0.31826	0.258000	0.26162	7.612000	0.82975	2.398000	0.81561	0.455000	0.32223	GGT		PASS	0.388	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			12	4	12	4	---	---	---	---
UBC	7316	broad.mit.edu	37	12	125397817	125397817	+	Silent	SNP	G	G	A	rs374437342		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:125397817G>A	ENST00000536769.1	-	1	2077	c.501C>T	c.(499-501)ctC>ctT	p.L167L	UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Silent_p.L167L			P0CG48	UBC_HUMAN	ubiquitin C	167	Ubiquitin-like 3. {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)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.L167L(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCTCCACCTCGAGGGTGATGG	0.512																																						uc001ugs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(499-501)CTC>CTT		ubiquitin C		G		1,4405		0,1,2202	156.0	154.0	155.0		501	-0.7	1.0	12		155	4,8592		0,4,4294	no	coding-synonymous	UBC	NM_021009.5		0,5,6496	AA,AG,GG		0.0465,0.0227,0.0385		167/686	125397817	5,12997	2203	4298	6501	SO:0001819	synonymous_variant	7316				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.chr12:125397817G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.501C>T	12.37:g.125397817G>A						UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.L167L|UBC_uc001ugt.2_Silent_p.L167L|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.L15L	p.L167L	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	949	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		167			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.501C>T	CCDS9260.1																																																																																				PASS	0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		60	123	60	123	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126138695	126138695	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:126138695G>C	ENST00000299308.3	+	9	2684	c.2676G>C	c.(2674-2676)agG>agC	p.R892S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R404S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	892						integral component of membrane (GO:0016021)		p.R892S(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGACCTCAAGGGGGCTAACGG	0.512																																						uc001uhe.1																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2674-2676)AGG>AGC		transmembrane protein 132B							84.0	81.0	82.0					12																	126138695		1985	4168	6153	SO:0001583	missense	114795					integral to membrane		g.chr12:126138695G>C	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2676G>C	12.37:g.126138695G>C	ENSP00000299308:p.Arg892Ser					TMEM132B_uc001uhf.1_Missense_Mutation_p.R404S	p.R892S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2684	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		892			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2676G>C	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764297	0.49574	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.25085	1.82;1.82	5.43	3.56	0.40772	.	0.000000	0.64402	D	0.000001	T	0.35856	0.0946	L	0.43152	1.355	0.58432	D	0.999992	D	0.89917	1.0	D	0.74023	0.982	T	0.08994	-1.0695	10	0.46703	T	0.11	.	5.9508	0.19245	0.1581:0.1859:0.6559:0.0	.	892	Q14DG7	T132B_HUMAN	S	892;404	ENSP00000299308:R892S;ENSP00000440436:R404S	ENSP00000299308:R892S	R	+	3	2	TMEM132B	124704648	1.000000	0.71417	0.990000	0.47175	0.802000	0.45316	1.073000	0.30691	1.247000	0.43917	0.655000	0.94253	AGG		PASS	0.512	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		14	48	14	48	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129559279	129559279	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr12:129559279G>T	ENST00000422113.2	-	9	2767	c.2441C>A	c.(2440-2442)gCa>gAa	p.A814E	TMEM132D_ENST00000389441.4_Missense_Mutation_p.A352E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	814					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.A814E(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGAACCCCTGCCCCTGTGTG	0.488																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2440-2442)GCA>GAA		transmembrane protein 132D precursor							165.0	134.0	145.0					12																	129559279		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559279G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2441C>A	12.37:g.129559279G>T	ENSP00000408581:p.Ala814Glu					TMEM132D_uc001uia.2_Missense_Mutation_p.A352E	p.A814E	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2769	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	814			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2441C>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.710708	0.00094	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13901	2.55;2.55	4.05	1.94	0.25998	.	1.357460	0.05687	U	0.591496	T	0.08088	0.0202	N	0.04203	-0.255	0.09310	N	1	B;B	0.30973	0.302;0.082	B;B	0.29942	0.109;0.037	T	0.38929	-0.9638	9	.	.	.	-0.0073	13.7873	0.63117	0.0:0.4292:0.5707:0.0	.	814;352	Q14C87;Q14C87-2	T132D_HUMAN;.	E	352;814	ENSP00000374092:A352E;ENSP00000408581:A814E	.	A	-	2	0	TMEM132D	128125232	0.006000	0.16342	0.008000	0.14137	0.015000	0.08874	1.687000	0.37680	0.748000	0.32831	0.462000	0.41574	GCA		PASS	0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		9	58	9	58	---	---	---	---
IFT88	8100	broad.mit.edu	37	13	21189974	21189974	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:21189974C>G	ENST00000319980.6	+	16	1509	c.1182C>G	c.(1180-1182)ctC>ctG	p.L394L	IFT88_ENST00000537103.1_Silent_p.L366L|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000382778.4_Silent_p.L394L|IFT88_ENST00000351808.5_Silent_p.L385L	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	394					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.L394L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CTGCAAAACTCATTGCTCCTG	0.294																																						uc001unh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1180-1182)CTC>CTG		intraflagellar transport 88 homolog isoform 1							87.0	97.0	94.0					13																	21189974		2203	4295	6498	SO:0001819	synonymous_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21189974C>G	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1182C>G	13.37:g.21189974C>G						IFT88_uc001uni.2_Silent_p.L385L|IFT88_uc001unj.2_Silent_p.L384L|IFT88_uc010tcq.1_Silent_p.L365L|IFT88_uc001unk.2_Silent_p.L140L|IFT88_uc001unl.1_Silent_p.L12L	p.L394L	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	16	1578	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	394					A2A491|B4DUS2|Q5SZJ6|Q8N719	Silent	SNP	ENST00000319980.6	37	c.1182C>G	CCDS31944.1																																																																																				PASS	0.294	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		6	19	6	19	---	---	---	---
IFT88	8100	broad.mit.edu	37	13	21219051	21219051	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:21219051T>A	ENST00000319980.6	+	22	2257	c.1930T>A	c.(1930-1932)Ttt>Att	p.F644I	IFT88_ENST00000537103.1_Missense_Mutation_p.F616I|IFT88_ENST00000382778.4_Missense_Mutation_p.F644I|IFT88_ENST00000351808.5_Missense_Mutation_p.F635I	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	644					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.F644I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGACACCCAATTTTGGGAAAA	0.303																																						uc001unh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1930-1932)TTT>ATT		intraflagellar transport 88 homolog isoform 1							120.0	122.0	121.0					13																	21219051		2203	4296	6499	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21219051T>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1930T>A	13.37:g.21219051T>A	ENSP00000323580:p.Phe644Ile					IFT88_uc001uni.2_Missense_Mutation_p.F635I|IFT88_uc001unj.2_Missense_Mutation_p.F634I|IFT88_uc010tcq.1_Missense_Mutation_p.F615I	p.F644I	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	22	2326	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	644			TPR 11.		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1930T>A	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229244	0.39399	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.75589	-0.95;0.66;0.66;0.66	5.48	4.3	0.51218	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049532	0.85682	D	0.000000	T	0.65811	0.2727	L	0.35793	1.09	0.58432	D	0.999999	B;P	0.39352	0.052;0.669	B;B	0.41374	0.029;0.355	T	0.61232	-0.7104	10	0.28530	T	0.3	-15.6009	11.4807	0.50324	0.0:0.0706:0.0:0.9294	.	616;644	F5H6C2;Q13099	.;IFT88_HUMAN	I	644;635;644;616	ENSP00000372228:F644I;ENSP00000261632:F635I;ENSP00000323580:F644I;ENSP00000437719:F616I	ENSP00000323580:F644I	F	+	1	0	IFT88	20117051	1.000000	0.71417	0.986000	0.45419	0.377000	0.30045	7.990000	0.88215	1.012000	0.39366	-0.256000	0.11100	TTT		PASS	0.303	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		9	39	9	39	---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562336	21562336	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:21562336G>A	ENST00000382592.4	-	4	1988	c.1583C>T	c.(1582-1584)tCg>tTg	p.S528L	LATS2_ENST00000542899.1_Missense_Mutation_p.S528L|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.S528L(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GTACTGCTCCGACTTGCTGCG	0.716																																						uc009zzs.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10						c.(1582-1584)TCG>TTG		LATS, large tumor suppressor, homolog 2							36.0	39.0	38.0					13																	21562336		2202	4299	6501	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562336G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1583C>T	13.37:g.21562336G>A	ENSP00000372035:p.Ser528Leu					LATS2_uc001unr.3_Missense_Mutation_p.S528L	p.S528L	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1948	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	528						Missense_Mutation	SNP	ENST00000382592.4	37	c.1583C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748150	0.49257	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.59772	0.24;0.24	5.12	4.21	0.49690	.	0.310667	0.27739	N	0.018049	T	0.44180	0.1281	L	0.32530	0.975	0.09310	N	1	B	0.28880	0.226	B	0.14023	0.01	T	0.40327	-0.9569	10	0.52906	T	0.07	.	12.5643	0.56300	0.0865:0.0:0.9135:0.0	.	528	Q9NRM7	LATS2_HUMAN	L	528	ENSP00000372035:S528L;ENSP00000441817:S528L	ENSP00000372035:S528L	S	-	2	0	LATS2	20460336	0.243000	0.23878	0.002000	0.10522	0.886000	0.51366	3.490000	0.53245	1.279000	0.44446	0.549000	0.68633	TCG		PASS	0.716	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			9	14	9	14	---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25480240	25480240	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:25480240C>T	ENST00000381884.4	-	7	2121	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	CENPJ_ENST00000545981.1_Missense_Mutation_p.E646K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	646					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.E646K(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTCCTTCTCACGTGCAGTG	0.488																																						uc001upt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1936-1938)GAG>AAG		centromere protein J							111.0	106.0	108.0					13																	25480240		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480240C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1936G>A	13.37:g.25480240C>T	ENSP00000371308:p.Glu646Lys					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank	p.E646K	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	2189	-		Lung SC(185;0.0225)|Breast(139;0.0602)	646					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1936G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	6.442	0.449777	0.12223	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.35421	1.31;1.89	5.87	5.87	0.94306	.	0.531902	0.19082	N	0.123218	T	0.32823	0.0842	L	0.56769	1.78	0.09310	N	1	P	0.35433	0.501	B	0.32864	0.154	T	0.27020	-1.0086	10	0.15952	T	0.53	.	13.0038	0.58692	0.0:0.9227:0.0:0.0773	.	646	Q9HC77	CENPJ_HUMAN	K	646	ENSP00000371308:E646K;ENSP00000441090:E646K	ENSP00000371308:E646K	E	-	1	0	CENPJ	24378240	0.001000	0.12720	0.090000	0.20809	0.015000	0.08874	1.144000	0.31565	2.774000	0.95407	0.650000	0.86243	GAG		PASS	0.488	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		5	35	5	35	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29001924	29001924	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:29001924A>G	ENST00000282397.4	-	9	1492	c.1241T>C	c.(1240-1242)gTg>gCg	p.V414A	FLT1_ENST00000541932.1_Missense_Mutation_p.V414A|FLT1_ENST00000539099.1_Missense_Mutation_p.V414A	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	414	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.V414A(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTTTTAAACACATTTGACTG	0.378																																						uc001usb.3																			2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(1240-1242)GTG>GCG		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						155.0	138.0	144.0					13																	29001924		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001924A>G	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1241T>C	13.37:g.29001924A>G	ENSP00000282397:p.Val414Ala					FLT1_uc010aar.1_Missense_Mutation_p.V414A|FLT1_uc001usc.3_Missense_Mutation_p.V414A|FLT1_uc010tdp.1_Missense_Mutation_p.V414A	p.V414A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	9	1526	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	414			Ig-like C2-type 4.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1241T>C	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616933	0.46736	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.74526	-0.85;-0.26;-0.26	5.85	5.85	0.93711	Immunoglobulin subtype (1);	0.429966	0.21895	N	0.067522	T	0.59797	0.2220	N	0.16368	0.405	0.09310	N	1	B;B;B;B	0.28636	0.218;0.123;0.218;0.064	B;B;B;B	0.33620	0.167;0.167;0.167;0.111	T	0.43589	-0.9382	10	0.05525	T	0.97	.	16.2389	0.82396	1.0:0.0:0.0:0.0	.	414;414;414;414	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	A	414	ENSP00000282397:V414A;ENSP00000437631:V414A;ENSP00000442630:V414A	ENSP00000282397:V414A	V	-	2	0	FLT1	27899924	0.907000	0.30839	0.007000	0.13788	0.588000	0.36517	8.219000	0.89770	2.236000	0.73375	0.528000	0.53228	GTG		PASS	0.378	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			12	44	12	44	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38213200	38213200	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:38213200C>A	ENST00000379705.3	-	10	3045	c.2188G>T	c.(2188-2190)Ggc>Tgc	p.G730C	TRPC4_ENST00000379681.3_Missense_Mutation_p.G735C|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.G557C|TRPC4_ENST00000379679.1_Missense_Mutation_p.G557C|TRPC4_ENST00000379673.2_Missense_Mutation_p.G665C|TRPC4_ENST00000355779.2_Splice_Site_p.V730F|TRPC4_ENST00000358477.2_Missense_Mutation_p.G730C			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	730	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.G735C(1)|p.G730C(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCGGTCAGGCCTTCTTCAGTT	0.398																																						uc001uws.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(2188-2190)GGC>TGC		transient receptor potential cation channel,							266.0	254.0	258.0					13																	38213200		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38213200C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2188G>T	13.37:g.38213200C>A	ENSP00000369027:p.Gly730Cys					TRPC4_uc010abv.2_Missense_Mutation_p.G310C|TRPC4_uc001uwt.2_Missense_Mutation_p.G730C|TRPC4_uc010tey.1_Missense_Mutation_p.V730F|TRPC4_uc010abw.2_Missense_Mutation_p.G557C|TRPC4_uc010abx.2_Missense_Mutation_p.G735C|TRPC4_uc010aby.2_Missense_Mutation_p.G665C	p.G730C	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	10	2423	-			730			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2188G>T	CCDS9365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.328681|4.328681	0.81690|0.81690	.|.	.|.	ENSG00000133107|ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000358477;ENST00000379673|ENST00000355779	D;D;D;D;D;D|D	0.92099|0.87571	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97|-2.27	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83968|0.83968	0.5369|0.5369	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D;D;D|B	0.89917|0.20459	1.0;1.0;1.0;1.0;1.0|0.045	D;D;D;D;D|B	0.79784|0.34452	0.986;0.976;0.993;0.982;0.987|0.183	T|T	0.80118|0.80118	-0.1516|-0.1516	10|9	0.72032|0.52906	D|T	0.01|0.07	-20.6116|-20.6116	19.0842|19.0842	0.93196|0.93196	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	665;735;557;730;730|730	Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4|Q9UBN4-3	.;.;.;.;TRPC4_HUMAN|.	C|F	730;735;557;557;730;665|730	ENSP00000369027:G730C;ENSP00000369003:G735C;ENSP00000342580:G557C;ENSP00000369001:G557C;ENSP00000351264:G730C;ENSP00000368995:G665C|ENSP00000348025:V730F	ENSP00000342580:G557C|ENSP00000348025:V730F	G|V	-|-	1|1	0|0	TRPC4|TRPC4	37111200|37111200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.966000|5.966000	0.70395|0.70395	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	GGC|GTT		PASS	0.398	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		16	88	16	88	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39264956	39264956	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:39264956G>T	ENST00000280481.7	+	1	3691	c.3475G>T	c.(3475-3477)Gtg>Ttg	p.V1159L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1159					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1159L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTGGAACCTGTGGAGGACCG	0.443																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(3475-3477)GTG>TTG		FRAS1-related extracellular matrix protein 2							97.0	99.0	98.0					13																	39264956		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264956G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3475G>T	13.37:g.39264956G>T	ENSP00000280481:p.Val1159Leu						p.V1159L	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3784	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1159			Extracellular (Potential).|CSPG 7.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3475G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318174	0.23994	.	.	ENSG00000150893	ENST00000280481	T	0.34275	1.37	6.07	6.07	0.98685	.	0.057290	0.64402	D	0.000002	T	0.33789	0.0875	L	0.35487	1.065	0.80722	D	1	B	0.16396	0.017	B	0.18561	0.022	T	0.03374	-1.1043	10	0.35671	T	0.21	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1159	Q5SZK8	FREM2_HUMAN	L	1159	ENSP00000280481:V1159L	ENSP00000280481:V1159L	V	+	1	0	FREM2	38162956	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.652000	0.67959	2.890000	0.99128	0.650000	0.86243	GTG		PASS	0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		10	59	10	59	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39266606	39266606	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:39266606C>G	ENST00000280481.7	+	1	5341	c.5125C>G	c.(5125-5127)Ctt>Gtt	p.L1709V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1709					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1709V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACATGGATATCTTCTCAACCT	0.423																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(5125-5127)CTT>GTT		FRAS1-related extracellular matrix protein 2							118.0	116.0	117.0					13																	39266606		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266606C>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5125C>G	13.37:g.39266606C>G	ENSP00000280481:p.Leu1709Val						p.L1709V	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	5434	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1709			Extracellular (Potential).|CSPG 12.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.5125C>G	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	5.372	0.253943	0.10185	.	.	ENSG00000150893	ENST00000280481	T	0.65549	-0.16	4.99	4.99	0.66335	.	0.068684	0.64402	D	0.000013	T	0.61211	0.2329	M	0.78344	2.41	0.53688	D	0.999971	P	0.36753	0.568	B	0.35770	0.21	T	0.61302	-0.7090	10	0.27785	T	0.31	.	12.4007	0.55412	0.2938:0.7062:0.0:0.0	.	1709	Q5SZK8	FREM2_HUMAN	V	1709	ENSP00000280481:L1709V	ENSP00000280481:L1709V	L	+	1	0	FREM2	38164606	0.933000	0.31639	0.960000	0.40013	0.460000	0.32559	1.450000	0.35134	2.483000	0.83821	0.563000	0.77884	CTT		PASS	0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		19	73	19	73	---	---	---	---
SLC25A15	10166	broad.mit.edu	37	13	41379369	41379369	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:41379369G>C	ENST00000338625.4	+	4	666	c.430G>C	c.(430-432)Ggg>Cgg	p.G144R	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	144					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)	p.G144R(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	GGAGACATCAGGGAAGATAGC	0.517																																						uc001uxn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)GGG>CGG		mitochondrial ornithine transporter 1	L-Ornithine(DB00129)						100.0	92.0	95.0					13																	41379369		2203	4300	6503	SO:0001583	missense	10166				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr13:41379369G>C	AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"""Solute carriers"""	10985	protein-coding gene	gene with protein product	"""ornithine transporter 1"""	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.430G>C	13.37:g.41379369G>C	ENSP00000342267:p.Gly144Arg					SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Missense_Mutation_p.G50R|SUGT1L1_uc001uxo.1_Intron	p.G144R	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	4	752	+		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	144			Solcar 2.		Q5VZD8|Q9HC45	Missense_Mutation	SNP	ENST00000338625.4	37	c.430G>C	CCDS9373.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937896	0.73557	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	T	0.78816	-1.21	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.473928	0.24559	N	0.037489	D	0.87277	0.6137	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;0.985	D;D	0.87578	0.998;0.947	D	0.84236	0.0469	10	0.27082	T	0.32	.	18.6386	0.91386	0.0:0.0:1.0:0.0	.	84;144	B4DL63;Q9Y619	.;ORNT1_HUMAN	R	144;84	ENSP00000342267:G144R	ENSP00000342267:G144R	G	+	1	0	SLC25A15	40277369	1.000000	0.71417	0.736000	0.30914	0.308000	0.27856	9.744000	0.98853	2.651000	0.90000	0.650000	0.86243	GGG		PASS	0.517	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2	NM_014252		6	31	6	31	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58207038	58207038	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:58207038G>T	ENST00000377918.3	+	1	384	c.358G>T	c.(358-360)Gta>Tta	p.V120L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	120	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.V120L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CATGATCAAGGTAGAGATCCA	0.602																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(358-360)GTA>TTA		protocadherin 17 precursor							110.0	87.0	95.0					13																	58207038		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207038G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.358G>T	13.37:g.58207038G>T	ENSP00000367151:p.Val120Leu					PCDH17_uc010aec.1_Missense_Mutation_p.V120L	p.V120L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1250	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	120			Extracellular (Potential).|Cadherin 1.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.358G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428006	0.43122	.	.	ENSG00000118946	ENST00000377918	T	0.24350	1.86	5.12	4.25	0.50352	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.110933	0.64402	N	0.000008	T	0.28699	0.0711	L	0.59967	1.855	0.50813	D	0.999891	B;B	0.20368	0.018;0.044	B;B	0.26969	0.075;0.034	T	0.05733	-1.0867	9	.	.	.	.	15.6355	0.76949	0.0:0.1376:0.8624:0.0	.	120;120	O14917-2;O14917	.;PCD17_HUMAN	L	120	ENSP00000367151:V120L	.	V	+	1	0	PCDH17	57105039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.200000	0.72118	1.357000	0.45904	0.650000	0.86243	GTA		PASS	0.602	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		7	15	7	15	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	66879051	66879051	+	Silent	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:66879051T>A	ENST00000377865.2	-	4	3584	c.3450A>T	c.(3448-3450)ccA>ccT	p.P1150P	PCDH9_ENST00000544246.1_Silent_p.P1150P|PCDH9_ENST00000328454.5_Silent_p.P1116P|PCDH9_ENST00000456367.1_Silent_p.P1116P|PCDH9-AS1_ENST00000430861.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1150					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1150P(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGTGTTGATATGGACCCAAGC	0.517																																						uc001vik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(3448-3450)CCA>CCT		protocadherin 9 isoform 1 precursor							132.0	113.0	120.0					13																	66879051		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66879051T>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3450A>T	13.37:g.66879051T>A						PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.P1116P|PCDH9_uc010thl.1_Silent_p.P1108P	p.P1150P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4142	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1150			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.3450A>T	CCDS9444.1																																																																																				PASS	0.517	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		14	44	14	44	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77739409	77739409	+	Splice_Site	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:77739409T>A	ENST00000544440.2	-	42	6361	c.6344A>T	c.(6343-6345)gAg>gTg	p.E2115V	MYCBP2_ENST00000407578.2_Splice_Site_p.E2153V|MYCBP2_ENST00000357337.6_Splice_Site_p.E2115V|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.E2115V(2)|p.E2153V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATTCTTACCTCATCAGGTCC	0.353																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(6343-6345)GAG>GTG		MYC binding protein 2							97.0	95.0	96.0					13																	77739409		2203	4300	6503	SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77739409T>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6345+1A>T	13.37:g.77739409T>A						MYCBP2_uc010aev.2_Missense_Mutation_p.E1519V	p.E2115V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	43	6435	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2115						Missense_Mutation	SNP	ENST00000544440.2	37	c.6344A>T		.	.	.	.	.	.	.	.	.	.	T	24.8	4.572239	0.86542	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30714	1.52;1.52;1.52	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	L	0.43152	1.355	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.47774	-0.9091	10	0.72032	D	0.01	.	15.6712	0.77279	0.0:0.0:0.0:1.0	.	2115	O75592	MYCB2_HUMAN	V	2115;2153;2115	ENSP00000349892:E2115V;ENSP00000384288:E2153V;ENSP00000444596:E2115V	ENSP00000349892:E2115V	E	-	2	0	MYCBP2	76637410	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.096000	0.63516	0.528000	0.53228	GAG		PASS	0.353	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Missense_Mutation	11	30	11	30	---	---	---	---
CLDN10	9071	broad.mit.edu	37	13	96086270	96086270	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:96086270C>T	ENST00000376873.3	+	1	413	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	63					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.C61C(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			CTTTCCATTGCCGACCGCATT	0.493																																						uc001vmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(181-183)TGC>TGT		claudin 10 isoform a							114.0	110.0	112.0					13																	96086270		2203	4300	6503	SO:0001819	synonymous_variant	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96086270C>T	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.183C>T	13.37:g.96086270C>T						CLDN10_uc010tii.1_Intron	p.C61C	NM_182848	NP_878268	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		1	418	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		63			Extracellular (Potential).		Q6IBF9|Q96N78	Silent	SNP	ENST00000376873.3	37	c.183C>T	CCDS9475.1																																																																																				PASS	0.493	CLDN10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045483.3	NM_006984		10	32	10	32	---	---	---	---
TM9SF2	9375	broad.mit.edu	37	13	100181719	100181719	+	Splice_Site	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:100181719A>T	ENST00000376387.4	+	4	523		c.e4-1		TM9SF2_ENST00000463709.1_Splice_Site	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2						transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.?(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTTTTAATACAGTTTACGTTT	0.303																																						uc001voj.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e4-2		transmembrane 9 superfamily member 2 precursor							54.0	57.0	56.0					13																	100181719		2202	4290	6492	SO:0001630	splice_region_variant	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100181719A>T	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.334-1A>T	13.37:g.100181719A>T						TM9SF2_uc010afz.1_Intron	p.F112_splice	NM_004800	NP_004791	Q99805	TM9S2_HUMAN			4	467	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)							A8K399|Q2TAY5	Splice_Site	SNP	ENST00000376387.4	37	c.334_splice	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676707	0.67928	.	.	ENSG00000125304	ENST00000376387	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4696	0.75432	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TM9SF2	98979720	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	8.601000	0.90864	2.100000	0.63781	0.528000	0.53228	.		PASS	0.303	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3		Intron	3	19	3	19	---	---	---	---
PCCA	5095	broad.mit.edu	37	13	100925585	100925585	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:100925585G>C	ENST00000376285.1	+	12	1088	c.1050G>C	c.(1048-1050)atG>atC	p.M350I	PCCA_ENST00000376279.3_Missense_Mutation_p.M350I|PCCA_ENST00000376286.4_Missense_Mutation_p.M324I	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	350	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.M350I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TCTTGGAAATGAATACAAGAC	0.388																																						uc001voo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1048-1050)ATG>ATC		propionyl-Coenzyme A carboxylase, alpha	Biotin(DB00121)						65.0	69.0	68.0					13																	100925585		2203	4300	6503	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100925585G>C	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1050G>C	13.37:g.100925585G>C	ENSP00000365462:p.Met350Ile					PCCA_uc010aga.2_Missense_Mutation_p.M324I|PCCA_uc010tiz.1_Missense_Mutation_p.M350I	p.M350I	NM_000282	NP_000273	P05165	PCCA_HUMAN			12	1088	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		350			ATP-grasp.|Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.1050G>C	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216375	0.79352	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97089	-4.24;-4.24;-4.24	5.55	4.68	0.58851	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Biotin carboxylation domain (1);	0.037865	0.85682	D	0.000000	D	0.98645	0.9546	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.99647	1.0990	10	0.87932	D	0	.	15.6987	0.77521	0.0:0.0:0.8619:0.1381	.	350;324;350	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	I	324;350;350	ENSP00000365463:M324I;ENSP00000365456:M350I;ENSP00000365462:M350I	ENSP00000365456:M350I	M	+	3	0	PCCA	99723586	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.751000	0.98889	1.405000	0.46838	0.650000	0.86243	ATG		PASS	0.388	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			7	9	7	9	---	---	---	---
PROZ	8858	broad.mit.edu	37	13	113814408	113814408	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr13:113814408G>A	ENST00000375547.2	+	2	158	c.151G>A	c.(151-153)Gag>Aag	p.E51K	PROZ_ENST00000342783.4_Missense_Mutation_p.E73K	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	51	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.E51K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AGAACTCTTCGAGGGAAACTT	0.458																																						uc001vta.1																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)GAG>AAG		protein Z, vitamin K-dependent plasma	Menadione(DB00170)						117.0	129.0	125.0					13																	113814408		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113814408G>A	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.151G>A	13.37:g.113814408G>A	ENSP00000364697:p.Glu51Lys					PROZ_uc010agr.1_Missense_Mutation_p.E73K	p.E51K	NM_003891	NP_003882	P22891	PROZ_HUMAN	all cancers(43;0.104)		2	158	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	51			Gla.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.151G>A	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158379	0.01686	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.98937	-5.25;-5.25	4.0	-1.59	0.08453	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.805233	0.11334	U	0.574710	D	0.93559	0.7944	N	0.04063	-0.285	0.09310	N	0.999995	B;B	0.31611	0.331;0.046	B;B	0.28849	0.095;0.036	D	0.87994	0.2751	10	0.87932	D	0	.	10.9535	0.47343	0.0943:0.5134:0.3923:0.0	.	73;51	P22891-2;P22891	.;PROZ_HUMAN	K	51;73	ENSP00000364697:E51K;ENSP00000344458:E73K	ENSP00000344458:E73K	E	+	1	0	PROZ	112862409	0.001000	0.12720	0.063000	0.19743	0.356000	0.29392	-0.615000	0.05597	-0.278000	0.09180	0.313000	0.20887	GAG		PASS	0.458	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		34	77	34	77	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553804	19553804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:19553804G>T	ENST00000409832.3	+	1	440	c.388G>T	c.(388-390)Gag>Tag	p.E130*		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	130								p.E130*(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGCTTTCATGGAGCCGAGGTA	0.592																																						uc001vuz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(388-390)GAG>TAG		POTE ankyrin domain family, member G							199.0	230.0	219.0					14																	19553804		2201	4295	6496	SO:0001587	stop_gained	404785							g.chr14:19553804G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.388G>T	14.37:g.19553804G>T	ENSP00000386971:p.Glu130*					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.E130*	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	440	+			130					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Nonsense_Mutation	SNP	ENST00000409832.3	37	c.388G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	14.29	2.490890	0.44249	.	.	ENSG00000222036	ENST00000409832	.	.	.	1.26	-2.52	0.06346	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	8.0803	0.30741	0.0:0.5255:0.4745:0.0	.	.	.	.	X	130	.	ENSP00000386971:E130X	E	+	1	0	POTEG	18623804	0.108000	0.22018	0.000000	0.03702	0.001000	0.01503	0.711000	0.25764	-1.309000	0.02315	-0.745000	0.03516	GAG		PASS	0.592	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		13	317	13	317	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19563531	19563531	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:19563531C>A	ENST00000409832.3	+	5	1097	c.1045C>A	c.(1045-1047)Cat>Aat	p.H349N	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	349				H -> R (in Ref. 1; AAS58868/AAS58871). {ECO:0000305}.				p.H349N(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGTTTCTAGTCATCATAATGT	0.353																																						uc001vuz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1045-1047)CAT>AAT		POTE ankyrin domain family, member G							60.0	96.0	85.0					14																	19563531		1147	2489	3636	SO:0001583	missense	404785							g.chr14:19563531C>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1045C>A	14.37:g.19563531C>A	ENSP00000386971:p.His349Asn					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA	p.H349N	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			5	1097	+			349	H -> R (in Ref. 1; AAS58868/AAS58871).				A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1045C>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	1.471	-0.559754	0.03967	.	.	ENSG00000222036	ENST00000409832	T	0.61980	0.06	1.09	-1.23	0.09465	Ankyrin repeat-containing domain (4);	3.636160	0.02887	U	0.133696	T	0.41396	0.1157	N	0.03209	-0.39	0.09310	N	1	P	0.45428	0.858	P	0.51895	0.683	T	0.43669	-0.9377	10	0.02654	T	1	.	2.5589	0.04767	0.2472:0.3277:0.4251:0.0	.	349	Q6S5H5	POTEG_HUMAN	N	349	ENSP00000386971:H349N	ENSP00000386971:H349N	H	+	1	0	POTEG	18633531	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.092000	0.15066	-0.428000	0.07339	0.184000	0.17185	CAT		PASS	0.353	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		15	174	15	174	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249222	20249222	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:20249222C>A	ENST00000315957.4	+	1	822	c.741C>A	c.(739-741)acC>acA	p.T247T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T247T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCCACATTACCATTGTGGTGC	0.438																																						uc010tku.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(739-741)ACC>ACA		olfactory receptor, family 4, subfamily M,							233.0	211.0	219.0					14																	20249222		2203	4297	6500	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249222C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.741C>A	14.37:g.20249222C>A							p.T247T	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	741	+	all_cancers(95;0.00108)		247			Helical; Name=6; (Potential).		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.741C>A	CCDS32021.1																																																																																				PASS	0.438	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			9	104	9	104	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296240	20296240	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:20296240T>A	ENST00000315947.1	+	1	633	c.633T>A	c.(631-633)ttT>ttA	p.F211L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F211L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTGTGCTTTCTGGGGCTTC	0.517																																						uc010tkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(631-633)TTT>TTA		olfactory receptor, family 4, subfamily N,							128.0	128.0	128.0					14																	20296240		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296240T>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.633T>A	14.37:g.20296240T>A	ENSP00000319601:p.Phe211Leu						p.F211L	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	633	+	all_cancers(95;0.00108)		211			Helical; Name=5; (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.633T>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.971010	0.34754	.	.	ENSG00000176294	ENST00000315947	T	0.32988	1.43	4.52	-4.73	0.03259	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000082	T	0.30947	0.0781	L	0.48642	1.525	0.09310	N	1	P	0.51057	0.941	P	0.55011	0.766	T	0.22941	-1.0202	10	0.72032	D	0.01	-17.8484	6.4696	0.22001	0.1195:0.4119:0.0:0.4686	.	211	Q8NGD1	OR4N2_HUMAN	L	211	ENSP00000319601:F211L	ENSP00000319601:F211L	F	+	3	2	OR4N2	19366080	0.000000	0.05858	0.067000	0.19924	0.208000	0.24298	-2.330000	0.01110	-0.889000	0.03950	-1.262000	0.01453	TTT		PASS	0.517	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			9	63	9	63	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20444459	20444459	+	Missense_Mutation	SNP	G	G	T	rs375641256		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:20444459G>T	ENST00000305051.5	+	1	857	c.782G>T	c.(781-783)cGc>cTc	p.R261L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261L(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCGAAGGCCCGCTCCACATTG	0.463																																						uc010tkx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(781-783)CGC>CTC		olfactory receptor, family 4, subfamily K,							134.0	115.0	121.0					14																	20444459		2203	4299	6502	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444459G>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.782G>T	14.37:g.20444459G>T	ENSP00000304077:p.Arg261Leu						p.R261L	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	782	+	all_cancers(95;0.00108)		261			Helical; Name=6; (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.782G>T	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	0.040	-1.286993	0.01387	.	.	ENSG00000169488	ENST00000305051	T	0.00027	8.93	4.08	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.275499	0.26133	N	0.026154	T	0.00012	0.0000	N	0.00003	-3.5	0.21220	N	0.99975	B	0.09022	0.002	B	0.09377	0.004	T	0.48681	-0.9014	10	0.02654	T	1	.	9.7603	0.40528	0.0:0.0:0.4795:0.5205	.	261	Q8NH41	OR4KF_HUMAN	L	261	ENSP00000304077:R261L	ENSP00000304077:R261L	R	+	2	0	OR4K15	19514299	0.000000	0.05858	0.988000	0.46212	0.734000	0.41952	0.206000	0.17375	0.884000	0.36064	0.585000	0.79938	CGC		PASS	0.463	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			15	38	15	38	---	---	---	---
OR4K13	390433	broad.mit.edu	37	14	20502373	20502373	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:20502373G>T	ENST00000315693.2	-	1	546	c.545C>A	c.(544-546)cCc>cAc	p.P182H	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P182H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AATCACAAGGGGAAGGTCACA	0.473																																						uc010tkz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(544-546)CCC>CAC		olfactory receptor, family 4, subfamily K,							131.0	123.0	125.0					14																	20502373		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502373G>T		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.545C>A	14.37:g.20502373G>T	ENSP00000319322:p.Pro182His						p.P182H	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	545	-	all_cancers(95;0.00108)		182			Extracellular (Potential).		Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.545C>A	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	9.762	1.170286	0.21621	.	.	ENSG00000176253	ENST00000315693	T	0.00224	8.51	3.61	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	U	0.001535	T	0.00580	0.0019	M	0.89163	3.01	0.09310	N	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.27536	-1.0071	10	0.59425	D	0.04	.	9.8745	0.41195	0.1061:0.0:0.8939:0.0	.	182	Q8NH42	OR4KD_HUMAN	H	182	ENSP00000319322:P182H	ENSP00000319322:P182H	P	-	2	0	OR4K13	19572213	0.001000	0.12720	0.434000	0.26772	0.069000	0.16628	1.097000	0.30988	0.722000	0.32252	0.514000	0.50259	CCC		PASS	0.473	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			5	84	5	84	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23874503	23874503	+	Missense_Mutation	SNP	C	C	G	rs199923533		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:23874503C>G	ENST00000356287.3	-	4	460	c.431G>C	c.(430-432)gGc>gCc	p.G144A	MYH6_ENST00000405093.3_Missense_Mutation_p.G144A			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	144	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|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)|protein kinase binding (GO:0019901)	p.G144A(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCTTCTTGCCCCGGTAGGC	0.612																																						uc001wjv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(430-432)GGC>GCC		myosin heavy chain 6							117.0	118.0	117.0					14																	23874503		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23874503C>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.431G>C	14.37:g.23874503C>G	ENSP00000348634:p.Gly144Ala					MYH6_uc010akp.1_Missense_Mutation_p.G144A	p.G144A	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	5	498	-	all_cancers(95;2.54e-05)		144			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.431G>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	29.0	4.970006	0.92855	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.91631	-2.88;-2.88	4.41	4.41	0.53225	Myosin head, motor domain (2);	.	.	.	.	D	0.96294	0.8791	H	0.94734	3.575	0.58432	D	0.999994	P;P	0.45569	0.861;0.861	P;P	0.52856	0.711;0.711	D	0.97657	1.0158	9	0.87932	D	0	.	17.1836	0.86861	0.0:1.0:0.0:0.0	.	144;144	D9YZU2;P13533	.;MYH6_HUMAN	A	144	ENSP00000386041:G144A;ENSP00000348634:G144A	ENSP00000348634:G144A	G	-	2	0	MYH6	22944343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.352000	0.79404	2.450000	0.82876	0.543000	0.68304	GGC		PASS	0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			30	35	30	35	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23874944	23874944	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:23874944C>G	ENST00000356287.3	-	3	266	c.237G>C	c.(235-237)caG>caC	p.Q79H	MYH6_ENST00000405093.3_Missense_Mutation_p.Q79H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	79					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|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)|protein kinase binding (GO:0019901)	p.Q79H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGGTGGGTTCTGCTGCAACA	0.602																																						uc001wjv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(235-237)CAG>CAC		myosin heavy chain 6							254.0	178.0	204.0					14																	23874944		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23874944C>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.237G>C	14.37:g.23874944C>G	ENSP00000348634:p.Gln79His					MYH6_uc010akp.1_Missense_Mutation_p.Q79H	p.Q79H	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	4	304	-	all_cancers(95;2.54e-05)		79			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.237G>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	18.66	3.671456	0.67814	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.71698	-0.59;-0.59	3.91	3.91	0.45181	Myosin head, motor domain (1);	.	.	.	.	D	0.82692	0.5092	M	0.86268	2.805	0.46849	D	0.999224	D;D	0.69078	0.997;0.997	D;D	0.66847	0.947;0.947	D	0.84758	0.0760	9	0.87932	D	0	.	9.8705	0.41170	0.0:0.9025:0.0:0.0975	.	79;79	D9YZU2;P13533	.;MYH6_HUMAN	H	79	ENSP00000386041:Q79H;ENSP00000348634:Q79H	ENSP00000348634:Q79H	Q	-	3	2	MYH6	22944784	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.802000	0.55553	2.150000	0.67090	0.556000	0.70494	CAG		PASS	0.602	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			17	85	17	85	---	---	---	---
RABGGTA	5875	broad.mit.edu	37	14	24735655	24735655	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:24735655C>A	ENST00000399409.3	-	15	2019	c.1536G>T	c.(1534-1536)gaG>gaT	p.E512D	RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000560777.1_Missense_Mutation_p.E121D|RABGGTA_ENST00000216840.6_Missense_Mutation_p.E512D	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	512					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.E512D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ACAGTAGCAGCTCCTGCAGCC	0.612																																						uc001wof.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1534-1536)GAG>GAT		Rab geranylgeranyltransferase alpha							96.0	101.0	99.0					14																	24735655		2080	4216	6296	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24735655C>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1536G>T	14.37:g.24735655C>A	ENSP00000382341:p.Glu512Asp					RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.E512D|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	p.E512D	NM_004581	NP_004572	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	15	1958	-			512			LRR 4.		A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.1536G>T	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275657	0.40294	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.52295	0.67;0.67	5.81	0.955	0.19602	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.43757	1.38	0.42777	D	0.993855	B	0.30793	0.295	B	0.23018	0.043	T	0.11060	-1.0603	10	0.54805	T	0.06	-17.0511	8.3199	0.32124	0.0:0.6073:0.0:0.3927	.	512	Q92696	PGTA_HUMAN	D	512	ENSP00000216840:E512D;ENSP00000382341:E512D	ENSP00000216840:E512D	E	-	3	2	RABGGTA	23805495	1.000000	0.71417	0.960000	0.40013	0.988000	0.76386	1.174000	0.31932	0.111000	0.17947	0.462000	0.41574	GAG		PASS	0.612	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		8	61	8	61	---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29237355	29237355	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:29237355G>C	ENST00000313071.4	+	1	1069	c.870G>C	c.(868-870)gcG>gcC	p.A290A	RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Silent_p.A290A	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	290				FKRGAR -> AFRWCA (in Ref. 1; CAA52241). {ECO:0000305}.	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.A290A(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)		AGCGCGGTGCGCGCCTCACCT	0.716																																						uc001wqe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(868-870)GCG>GCC		forkhead box G1							34.0	42.0	39.0					14																	29237355		2202	4299	6501	SO:0001819	synonymous_variant	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.chr14:29237355G>C		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.870G>C	14.37:g.29237355G>C							p.A290A	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1069	+			290	FKRGAR -> AFRWCA (in Ref. 1; CAA52241).				A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.870G>C	CCDS9636.1																																																																																				PASS	0.716	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			6	37	6	37	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30100056	30100056	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:30100056T>A	ENST00000331968.5	-	10	1793	c.1564A>T	c.(1564-1566)Agt>Tgt	p.S522C	PRKD1_ENST00000415220.2_Missense_Mutation_p.S530C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	522	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S522C(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCAACGCCACTGGTGAGAACA	0.502																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1564-1566)AGT>TGT		protein kinase D1							185.0	151.0	162.0					14																	30100056		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30100056T>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1564A>T	14.37:g.30100056T>A	ENSP00000333568:p.Ser522Cys						p.S522C	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	10	1745	-	Hepatocellular(127;0.0604)		522			PH.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1564A>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334045	0.81801	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.78364	-1.17;-1.17;-1.17	5.12	5.12	0.69794	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88179	0.6367	M	0.83223	2.63	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	D	0.89660	0.3876	10	0.59425	D	0.04	-14.2014	15.2149	0.73258	0.0:0.0:0.0:1.0	.	522	Q15139	KPCD1_HUMAN	C	522;530;103	ENSP00000333568:S522C;ENSP00000390535:S530C;ENSP00000447333:S103C	ENSP00000333568:S522C	S	-	1	0	PRKD1	29169807	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.082000	0.64450	2.055000	0.61198	0.533000	0.62120	AGT		PASS	0.502	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		51	48	51	48	---	---	---	---
EGLN3	112399	broad.mit.edu	37	14	34419656	34419657	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:34419656_34419657CA>AG	ENST00000250457.3	-	1	630_631	c.302_303TG>CT	c.(301-303)cTG>cCT	p.L101P	EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000547327.2_Missense_Mutation_p.L101P	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	101	Required for interaction with ADRB2.				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.L101P(2)|p.L101L(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)	AGTAGAGGACCAGCCTGTCGAT	0.668																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	uc001wsa.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(301-303)CTG>CTT|c.(301-303)CTG>CCG		egl nine homolog 3	Vitamin C(DB00126)																																			SO:0001583	missense	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.chr14:34419656C>A|g.chr14:34419657A>G	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.302_303delinsAG	14.37:g.34419656_34419657delinsAG	ENSP00000250457:p.Leu101Pro					EGLN3_uc001wry.2_Intron|EGLN3_uc001wrz.2_Silent_p.L101L|EGLN3_uc001wsb.1_Silent_p.L101L|EGLN3_uc001wry.2_Intron|EGLN3_uc001wrz.2_Missense_Mutation_p.L101P|EGLN3_uc001wsb.1_Missense_Mutation_p.L101P	p.L101L|p.L101P	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)	1	629|628	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		101					Q2TA79|Q3B8N4|Q6P1R2	Silent|Missense_Mutation	SNP	ENST00000250457.3	37	c.303G>T|c.302T>C	CCDS9646.1																																																																																				PASS	0.668	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			8|9	23|22	8	22	---	---	---	---
CFL2	1073	broad.mit.edu	37	14	35182474	35182474	+	Silent	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:35182474T>C	ENST00000341223.3	-	2	448	c.297A>G	c.(295-297)ctA>ctG	p.L99L	CFL2_ENST00000555765.1_Silent_p.L82L|CFL2_ENST00000556161.1_Silent_p.L82L|CFL2_ENST00000298159.6_Silent_p.L99L	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	99	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)		p.L99L(1)		breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		ATATAAATACTAGGTCTTCTT	0.318																																						uc001wsg.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(295-297)CTA>CTG		cofilin 2							52.0	55.0	54.0					14																	35182474		2202	4300	6502	SO:0001819	synonymous_variant	1073					cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr14:35182474T>C	AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"""nemaline myopathy type 7"""	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.297A>G	14.37:g.35182474T>C						CFL2_uc010tpn.1_Silent_p.L82L|CFL2_uc001wsh.3_Silent_p.L99L|CFL2_uc001wsi.3_Intron|CFL2_uc001wsj.3_Intron	p.L99L	NM_021914	NP_068733	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	2	438	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		99			ADF-H.		G3V5P4	Silent	SNP	ENST00000341223.3	37	c.297A>G	CCDS9650.1																																																																																				PASS	0.318	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	NM_138638		11	42	11	42	---	---	---	---
KLHDC1	122773	broad.mit.edu	37	14	50201309	50201309	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:50201309G>A	ENST00000359332.2	+	10	916	c.826G>A	c.(826-828)Gat>Aat	p.D276N	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	276						cytoplasm (GO:0005737)		p.D276N(1)		kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					TATTGCAGGTGATGGTTGGAT	0.313																																						uc001www.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(826-828)GAT>AAT		kelch domain containing 1							96.0	94.0	94.0					14																	50201309		2203	4297	6500	SO:0001583	missense	122773					cytoplasm		g.chr14:50201309G>A	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.826G>A	14.37:g.50201309G>A	ENSP00000352282:p.Asp276Asn					SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_Missense_Mutation_p.D231N|KLHDC1_uc010tqh.1_Missense_Mutation_p.D191N	p.D276N	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN			10	854	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		276			Kelch 5.		B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	c.826G>A	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720145	0.89205	.	.	ENSG00000197776	ENST00000359332;ENST00000557128	T;T	0.77620	-1.11;-1.11	5.48	5.48	0.80851	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.89805	0.6821	M	0.85777	2.775	0.47737	D	0.999504	D;D	0.71674	0.998;0.997	D;D	0.83275	0.995;0.996	D	0.91007	0.4847	10	0.87932	D	0	-21.776	19.3526	0.94395	0.0:0.0:1.0:0.0	.	147;276	G3V3T1;Q8N7A1	.;KLDC1_HUMAN	N	276;147	ENSP00000352282:D276N;ENSP00000451407:D147N	ENSP00000352282:D276N	D	+	1	0	KLHDC1	49271059	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.655000	0.74392	2.577000	0.86979	0.561000	0.74099	GAT		PASS	0.313	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		9	18	9	18	---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50626482	50626482	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:50626482C>T	ENST00000216373.5	-	10	1793	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	SOS2_ENST00000543680.1_Missense_Mutation_p.E474K|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	507	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E507K(4)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGCTTGTGCTCACAAGTATCT	0.373																																						uc001wxs.3																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1519-1521)GAG>AAG		son of sevenless homolog 2							86.0	86.0	86.0					14																	50626482		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626482C>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1519G>A	14.37:g.50626482C>T	ENSP00000216373:p.Glu507Lys					SOS2_uc010tql.1_Missense_Mutation_p.E474K|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.E195K	p.E507K	NM_006939	NP_008870	Q07890	SOS2_HUMAN			10	1617	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		507			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1519G>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817905	0.90790	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.76186	-1.0;-1.0	5.87	5.87	0.94306	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047916	0.85682	D	0.000000	D	0.86218	0.5880	M	0.72353	2.195	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.995	D;D;P	0.70016	0.967;0.917;0.866	D	0.86393	0.1737	10	0.72032	D	0.01	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	474;537;507	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	K	507;474	ENSP00000216373:E507K;ENSP00000445328:E474K	ENSP00000216373:E507K	E	-	1	0	SOS2	49696232	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	7.391000	0.79828	2.775000	0.95449	0.650000	0.86243	GAG		PASS	0.373	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			28	46	28	46	---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50671113	50671113	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:50671113C>A	ENST00000216373.5	-	2	376	c.102G>T	c.(100-102)gtG>gtT	p.V34V	SOS2_ENST00000543680.1_Silent_p.V34V	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	34					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V34V(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAGTGGGATGCACTTGTTCCT	0.313																																						uc001wxs.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(100-102)GTG>GTT		son of sevenless homolog 2							104.0	113.0	110.0					14																	50671113		2203	4299	6502	SO:0001819	synonymous_variant	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50671113C>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.102G>T	14.37:g.50671113C>A						SOS2_uc010tql.1_Silent_p.V34V	p.V34V	NM_006939	NP_008870	Q07890	SOS2_HUMAN			2	200	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		34					B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	c.102G>T	CCDS9697.1																																																																																				PASS	0.313	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			23	61	23	61	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51219373	51219373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:51219373C>A	ENST00000382041.3	-	21	5003	c.4813G>T	c.(4813-4815)Gaa>Taa	p.E1605*	NIN_ENST00000389868.3_Nonsense_Mutation_p.E892*|NIN_ENST00000453196.1_Nonsense_Mutation_p.E1605*|NIN_ENST00000324330.9_Nonsense_Mutation_p.E1605*|NIN_ENST00000245441.5_Nonsense_Mutation_p.E1605*|NIN_ENST00000382043.4_Nonsense_Mutation_p.E892*|NIN_ENST00000530997.2_Nonsense_Mutation_p.E1605*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1605					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.E1605*(2)|p.E1611*(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCAGTTTTTCCTGGTTTTGA	0.333			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Nonsense(3)		lung(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(4813-4815)GAA>TAA		ninein isoform 5							221.0	207.0	212.0					14																	51219373		2203	4300	6503	SO:0001587	stop_gained	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51219373C>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4813G>T	14.37:g.51219373C>A	ENSP00000371472:p.Glu1605*					NIN_uc001wyi.2_Nonsense_Mutation_p.E1605*|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Nonsense_Mutation_p.E892*|NIN_uc010tqp.1_Nonsense_Mutation_p.E1611*|NIN_uc001wyo.2_Nonsense_Mutation_p.E1605*	p.E1605*	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			21	5004	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1605			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	ENST00000382041.3	37	c.4813G>T	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.146187|9.146187	0.99080|0.99080	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	.|.	.|.	.|.	5.74|5.74	3.8|3.8	0.43715|0.43715	.|.	0.392060|.	0.29066|.	N|.	0.013257|.	.|T	.|0.42562	.|0.1208	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50825	.|-0.8782	.|3	0.07030|.	T|.	0.85|.	-4.8654|-4.8654	6.2866|6.2866	0.21037|0.21037	0.0:0.6909:0.1939:0.1152|0.0:0.6909:0.1939:0.1152	.|.	.|.	.|.	.|.	X|V	1605;1588;892;892;1611;1605;1605;1605|1095	.|.	ENSP00000245441:E1605X|.	E|G	-|-	1|2	0|0	NIN|NIN	50289123|50289123	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.862000|2.862000	0.48388|0.48388	0.646000|0.646000	0.30693|0.30693	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.333	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		20	108	20	108	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53513567	53513567	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:53513567C>A	ENST00000323669.5	-	13	2621	c.2622G>T	c.(2620-2622)ttG>ttT	p.L874F	DDHD1_ENST00000357758.3_Missense_Mutation_p.L846F|DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000395606.1_Missense_Mutation_p.L853F	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	874	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L846F(1)|p.L874F(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GGGCAACATCCAAGGATGACC	0.433																																						uc001xai.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2620-2622)TTG>TTT		DDHD domain containing 1 isoform c							154.0	132.0	140.0					14																	53513567		2203	4300	6503	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53513567C>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2622G>T	14.37:g.53513567C>A	ENSP00000327104:p.Leu874Phe					DDHD1_uc001xaj.2_Missense_Mutation_p.L853F|DDHD1_uc001xah.2_Missense_Mutation_p.L846F|DDHD1_uc001xag.2_Missense_Mutation_p.L428F	p.L874F	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			13	2852	-	Breast(41;0.037)		874			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2622G>T	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067442	0.36470	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.92	5.92	0.95590	DDHD (2);	0.294009	0.34484	N	0.003926	T	0.57446	0.2054	L	0.39898	1.24	0.48040	D	0.99957	P;P;P	0.47762	0.637;0.9;0.653	B;P;B	0.48425	0.244;0.577;0.175	T	0.47497	-0.9113	9	0.10377	T	0.69	-13.4055	20.3207	0.98668	0.0:1.0:0.0:0.0	.	853;874;846	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	F	874;853;846;745	.	ENSP00000327104:L874F	L	-	3	2	DDHD1	52583317	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.567000	0.45956	2.813000	0.96785	0.561000	0.74099	TTG		PASS	0.433	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			15	42	15	42	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60069930	60069930	+	Splice_Site	SNP	C	C	G	rs11559108		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:60069930C>G	ENST00000267484.5	-	7	2564	c.2229G>C	c.(2227-2229)caG>caC	p.Q743H	RTN1_ENST00000342503.4_Splice_Site_p.Q175H|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Splice_Site_p.Q160H	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	743	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.Q743H(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TAGAACTTACCTGGTGCTTAA	0.318																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2227-2229)CAG>CAC		reticulon 1 isoform A							64.0	64.0	64.0					14																	60069930		2203	4300	6503	SO:0001630	splice_region_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60069930C>G	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2229+1G>C	14.37:g.60069930C>G						RTN1_uc001xem.1_Missense_Mutation_p.Q323H|RTN1_uc001xek.1_Missense_Mutation_p.Q175H|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.Q160H	p.Q743H	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	7	2438	-			743			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.2229G>C	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941361	0.92526	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.52983	0.64;0.64;0.64	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.987;0.998;0.978	T	0.76987	-0.2755	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	160;743;175	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	H	323;743;160;175;669	ENSP00000267484:Q743H;ENSP00000378525:Q160H;ENSP00000340716:Q175H	.	Q	-	3	2	RTN1	59139683	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.318	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		Missense_Mutation	8	18	8	18	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64606673	64606673	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:64606673C>T	ENST00000344113.4	+	80	15070	c.14858C>T	c.(14857-14859)tCg>tTg	p.S4953L	SYNE2_ENST00000357395.3_Missense_Mutation_p.S1338L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1338L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1587L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4953L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4870L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4953					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S4953L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACAGAGATTCGGATCAGTTA	0.378																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(14857-14859)TCG>TTG		spectrin repeat containing, nuclear envelope 2							113.0	105.0	108.0					14																	64606673		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64606673C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14858C>T	14.37:g.64606673C>T	ENSP00000341781:p.Ser4953Leu					SYNE2_uc001xgl.2_Missense_Mutation_p.S4953L|SYNE2_uc010apy.2_Missense_Mutation_p.S1338L|SYNE2_uc001xgn.2_5'UTR|SYNE2_uc001xgo.2_5'Flank	p.S4953L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	80	15088	+			4953			Spectrin 1.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.14858C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465270	0.26335	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.84	5.84	0.93424	.	0.348779	0.20723	N	0.086873	T	0.45296	0.1335	M	0.74881	2.28	0.80722	D	1	P;D;D	0.56968	0.925;0.97;0.978	P;P;P	0.50109	0.527;0.604;0.631	T	0.32771	-0.9894	10	0.11794	T	0.64	.	20.1392	0.98050	0.0:1.0:0.0:0.0	.	1338;4953;4953	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	L	4953;1338;4953;4870;4876;1587;1338	ENSP00000350719:S4953L;ENSP00000349969:S1338L;ENSP00000341781:S4953L;ENSP00000452570:S4870L;ENSP00000450831:S1587L;ENSP00000378249:S1338L	ENSP00000261678:S4876L	S	+	2	0	SYNE2	63676426	1.000000	0.71417	0.996000	0.52242	0.157000	0.22087	5.272000	0.65559	2.775000	0.95449	0.655000	0.94253	TCG		PASS	0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	48	5	48	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68251916	68251916	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:68251916T>A	ENST00000347230.4	-	19	3521	c.3383A>T	c.(3382-3384)cAg>cTg	p.Q1128L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.Q1128L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1128					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.Q1128L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGTCTGGATCTGCACAGGGTG	0.597																																						uc001xka.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)	11						c.(3382-3384)CAG>CTG		zinc finger, FYVE domain containing 26							75.0	70.0	72.0					14																	68251916		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68251916T>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3383A>T	14.37:g.68251916T>A	ENSP00000251119:p.Gln1128Leu					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.Q1128L	p.Q1128L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	19	3522	-			1128					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.3383A>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	5.984	0.365574	0.11352	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26223	1.9;1.75	5.54	3.13	0.36017	.	0.695796	0.14696	N	0.303861	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30297	-0.9983	10	0.24483	T	0.36	0.029	3.3946	0.07302	0.1672:0.1914:0.0:0.6414	.	1128;1128	G3V2D8;Q68DK2	.;ZFY26_HUMAN	L	1128;1107;1128	ENSP00000251119:Q1128L;ENSP00000450603:Q1128L	ENSP00000251119:Q1128L	Q	-	2	0	ZFYVE26	67321669	0.703000	0.27826	0.084000	0.20598	0.970000	0.65996	1.884000	0.39668	0.364000	0.24374	0.533000	0.62120	CAG		PASS	0.597	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		3	35	3	35	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71568774	71568774	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:71568774A>T	ENST00000304743.2	+	31	6103	c.5657A>T	c.(5656-5658)gAg>gTg	p.E1886V	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.E1814V|PCNX_ENST00000439984.3_Missense_Mutation_p.E1775V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1886						integral component of membrane (GO:0016021)		p.E1886V(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTATCTCATGAGAAGAACCTC	0.418																																						uc001xmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(5656-5658)GAG>GTG		pecanex-like 1							96.0	98.0	98.0					14																	71568774		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71568774A>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5657A>T	14.37:g.71568774A>T	ENSP00000304192:p.Glu1886Val					PCNX_uc010are.1_Missense_Mutation_p.E1775V|PCNX_uc010arf.1_Missense_Mutation_p.E674V|PCNX_uc001xmp.2_5'UTR	p.E1886V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	31	6103	+			1886					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5657A>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.3|27.3	4.814284|4.814284	0.90790|0.90790	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.44881|.	0.91;0.91;0.91|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.049180|.	0.85682|.	D|.	0.000000|.	T|.	0.75903|.	0.3913|.	M|M	0.78456|0.78456	2.415|2.415	0.37495|0.37495	D|D	0.916525|0.916525	D;D;P|.	0.61080|.	0.989;0.987;0.912|.	P;D;P|.	0.64506|.	0.787;0.926;0.597|.	T|.	0.80111|.	-0.1519|.	10|.	0.66056|.	D|.	0.02|.	.|.	15.7181|15.7181	0.77685|0.77685	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1814;1775;1886|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	V|X	1886;1814;1775|873	ENSP00000304192:E1886V;ENSP00000238570:E1814V;ENSP00000396617:E1775V|.	ENSP00000238570:E1814V|.	E|R	+|+	2|1	0|2	PCNX|PCNX	70638527|70638527	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.786000|0.786000	0.44442|0.44442	8.910000|8.910000	0.92685|0.92685	2.122000|2.122000	0.65172|0.65172	0.533000|0.533000	0.62120|0.62120	GAG|AGA		PASS	0.418	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		26	58	26	58	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74971752	74971752	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:74971752C>T	ENST00000261978.4	-	29	4689	c.4303G>A	c.(4303-4305)Gaa>Aaa	p.E1435K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E1391K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1435	TB 3.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E1435K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGCAGCATTCAGCCTGTGTG	0.662																																						uc001xqa.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(4303-4305)GAA>AAA		latent transforming growth factor beta binding							61.0	60.0	60.0					14																	74971752		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74971752C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4303G>A	14.37:g.74971752C>T	ENSP00000261978:p.Glu1435Lys						p.E1435K	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	29	4690	-			1435			TB 3.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.4303G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089833	0.76756	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.94046	-3.34;-3.34	4.73	3.84	0.44239	Matrix fibril-associated (3);TGF-beta binding (1);	0.603860	0.13592	N	0.376498	D	0.93051	0.7788	L	0.54965	1.715	0.41859	D	0.990215	P	0.40000	0.698	P	0.47102	0.537	D	0.90376	0.4384	10	0.35671	T	0.21	.	13.0262	0.58817	0.0:0.9222:0.0:0.0778	.	1435	Q14767	LTBP2_HUMAN	K	1435;1391	ENSP00000261978:E1435K;ENSP00000451477:E1391K	ENSP00000261978:E1435K	E	-	1	0	LTBP2	74041505	1.000000	0.71417	0.833000	0.33012	0.377000	0.30045	5.891000	0.69782	1.222000	0.43521	0.555000	0.69702	GAA		PASS	0.662	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		21	27	21	27	---	---	---	---
DLST	1743	broad.mit.edu	37	14	75366627	75366627	+	Splice_Site	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:75366627G>A	ENST00000334220.4	+	12	964	c.903G>A	c.(901-903)gtG>gtA	p.V301V	DLST_ENST00000334212.6_Splice_Site_p.V215V	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	301					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)	p.V301V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CTCTCATAGTGATTGACGACA	0.448																																						uc001xqv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(901-903)GTG>GTA		dihydrolipoamide S-succinyltransferase (E2							130.0	124.0	126.0					14																	75366627		2203	4300	6503	SO:0001630	splice_region_variant	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75366627G>A		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.902-1G>A	14.37:g.75366627G>A						DLST_uc001xqu.2_Silent_p.V213V|DLST_uc001xqt.2_Silent_p.V217V|DLST_uc010tuw.1_Silent_p.V215V	p.V301V	NM_001933	NP_001924	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	12	966	+			301					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	c.903G>A	CCDS9833.1																																																																																				PASS	0.448	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1		Silent	6	47	6	47	---	---	---	---
TTLL5	23093	broad.mit.edu	37	14	76286427	76286427	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:76286427C>T	ENST00000298832.9	+	28	3454	c.3249C>T	c.(3247-3249)atC>atT	p.I1083I	TTLL5_ENST00000557636.1_Silent_p.I1098I|TTLL5_ENST00000556893.1_Silent_p.I634I|TTLL5_ENST00000554510.1_Silent_p.I592I|RP11-270M14.4_ENST00000556207.1_RNA	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1083					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.I1083I(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GACCCATCATCAGTCCTAGTG	0.517																																						uc001xrx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3247-3249)ATC>ATT		tubulin tyrosine ligase-like family, member 5							98.0	87.0	91.0					14																	76286427		2203	4300	6503	SO:0001819	synonymous_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76286427C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3249C>T	14.37:g.76286427C>T						TTLL5_uc010ask.1_Silent_p.I1098I|TTLL5_uc001xrz.2_Silent_p.I658I|TTLL5_uc001xsa.2_Silent_p.I157I	p.I1083I	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	28	3454	+			1083					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	c.3249C>T	CCDS32124.1																																																																																				PASS	0.517	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		23	24	23	24	---	---	---	---
ANGEL1	23357	broad.mit.edu	37	14	77255657	77255657	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:77255657C>A	ENST00000251089.2	-	10	2039	c.1927G>T	c.(1927-1929)Gct>Tct	p.A643S	RP11-488C13.5_ENST00000556072.1_lincRNA|ANGEL1_ENST00000557179.1_Missense_Mutation_p.A208S	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	643								p.A643S(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)		CCATTGGCAGCCCAGAGTATC	0.577																																						uc001xsv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1927-1929)GCT>TCT		angel homolog 1							117.0	117.0	117.0					14																	77255657		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77255657C>A	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.1927G>T	14.37:g.77255657C>A	ENSP00000251089:p.Ala643Ser					uc001xsu.1_5'Flank|ANGEL1_uc010tvf.1_Intron	p.A643S	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	10	2040	-			643					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.1927G>T	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241843	0.22796	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;D	0.95238	1.6;-3.65	5.78	5.78	0.91487	Endonuclease/exonuclease/phosphatase (2);	0.181693	0.47093	D	0.000249	D	0.87497	0.6192	N	0.20807	0.61	0.31489	N	0.666217	B	0.25105	0.118	B	0.29353	0.101	T	0.79988	-0.1571	10	0.08381	T	0.77	-3.4548	9.5674	0.39407	0.1442:0.7818:0.0:0.074	.	643	Q9UNK9	ANGE1_HUMAN	S	643;208	ENSP00000251089:A643S;ENSP00000451534:A208S	ENSP00000251089:A643S	A	-	1	0	ANGEL1	76325410	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	0.734000	0.26101	2.724000	0.93272	0.563000	0.77884	GCT		PASS	0.577	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		29	71	29	71	---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81670361	81670361	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:81670361G>A	ENST00000553612.1	-	3	623	c.220C>T	c.(220-222)Cat>Tat	p.H74Y	GTF2A1_ENST00000434192.2_Missense_Mutation_p.H35Y|SNORA79_ENST00000408376.1_RNA	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	74	Poly-Gln.				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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.H74Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		tggggttgatgctgctgttga	0.493																																						uc001xvf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(220-222)CAT>TAT		TFIIA alpha, p55 isoform 1							156.0	95.0	116.0					14																	81670361		2203	4300	6503	SO:0001583	missense	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81670361G>A	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.220C>T	14.37:g.81670361G>A	ENSP00000452454:p.His74Tyr					GTF2A1_uc010atb.1_Missense_Mutation_p.H24Y|GTF2A1_uc001xvg.1_Missense_Mutation_p.H35Y|GTF2A1_uc001xvh.1_Missense_Mutation_p.H35Y|SNORA79_uc001xvi.1_5'Flank	p.H74Y	NM_015859	NP_056943	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	3	652	-			74			Poly-Gln.		Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	c.220C>T	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.742985	0.69418	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.43294	0.95;0.95	5.74	5.74	0.90152	.	0.585188	0.19609	N	0.110200	T	0.25232	0.0613	N	0.08118	0	0.40895	D	0.984105	B;B	0.16802	0.018;0.019	B;B	0.23150	0.043;0.044	T	0.13683	-1.0500	10	0.02654	T	1	-21.8098	19.5215	0.95187	0.0:0.0:1.0:0.0	.	35;74	P52655-2;P52655	.;TF2AA_HUMAN	Y	74;35;35	ENSP00000452454:H74Y;ENSP00000409492:H35Y	ENSP00000298173:H74Y	H	-	1	0	GTF2A1	80740114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.372000	0.73123	2.711000	0.92665	0.563000	0.77884	CAT		PASS	0.493	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		14	6	14	6	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94046632	94046632	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:94046632G>T	ENST00000393151.2	+	19	2571	c.2571G>T	c.(2569-2571)gaG>gaT	p.E857D	UNC79_ENST00000256339.4_Missense_Mutation_p.E680D|UNC79_ENST00000555664.1_Missense_Mutation_p.E857D|UNC79_ENST00000553484.1_Missense_Mutation_p.E857D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	857					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E857D(1)|p.E680D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGCAATCGAGTGCAACTTAT	0.468																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(2038-2040)GAG>GAT		hypothetical protein LOC57578							108.0	117.0	114.0					14																	94046632		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94046632G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2571G>T	14.37:g.94046632G>T	ENSP00000376858:p.Glu857Asp					KIAA1409_uc001ybs.1_Missense_Mutation_p.E680D	p.E680D	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	16	2123	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	857					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2040G>T		.	.	.	.	.	.	.	.	.	.	G	19.00	3.741420	0.69304	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.11	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	L	0.35341	1.055	0.43043	D	0.994636	D	0.61697	0.99	D	0.72982	0.979	T	0.06127	-1.0844	10	0.87932	D	0	-19.1163	4.8476	0.13521	0.307:0.0:0.693:0.0	.	857	C9JQL1	.	D	680;857;857;857;857	ENSP00000256339:E680D;ENSP00000450868:E857D;ENSP00000451360:E857D;ENSP00000376858:E857D	ENSP00000256339:E680D	E	+	3	2	KIAA1409	93116385	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.000000	0.57039	2.394000	0.81467	0.561000	0.74099	GAG		PASS	0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		18	52	18	52	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95033402	95033402	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:95033402G>T	ENST00000557004.1	+	3	1166	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	SERPINA4_ENST00000298841.5_Missense_Mutation_p.D249Y|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.D249Y			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	249					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D249Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GATGCTGCAGGACCAGGAGCA	0.493																																						uc001ydk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(745-747)GAC>TAC		serine (or cysteine) proteinase inhibitor, clade							115.0	99.0	104.0					14																	95033402		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033402G>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.745G>T	14.37:g.95033402G>T	ENSP00000450838:p.Asp249Tyr					SERPINA4_uc010avd.2_Missense_Mutation_p.D286Y|SERPINA4_uc001ydl.2_Missense_Mutation_p.D249Y	p.D249Y	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	811	+			249					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.745G>T	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275580	0.40294	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84370	-1.84;-1.84;-1.84	4.44	-2.33	0.06724	Serpin domain (3);	1.263640	0.06003	N	0.648178	D	0.82958	0.5150	L	0.46157	1.445	0.09310	N	1	P;B	0.51351	0.944;0.355	P;B	0.52672	0.706;0.053	T	0.70655	-0.4812	10	0.54805	T	0.06	.	1.813	0.03094	0.493:0.1443:0.217:0.1457	.	249;249	B2R815;P29622	.;KAIN_HUMAN	Y	249	ENSP00000450838:D249Y;ENSP00000451172:D249Y;ENSP00000298841:D249Y	ENSP00000298841:D249Y	D	+	1	0	SERPINA4	94103155	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.039000	0.12124	-0.471000	0.06891	-0.258000	0.10820	GAC		PASS	0.493	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		13	24	13	24	---	---	---	---
SERPINA13P	388007	broad.mit.edu	37	14	95109887	95109888	+	RNA	DNP	CC	CC	AA			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:95109887_95109888CC>AA	ENST00000469935.1	+	0	924_925					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P222P(1)|p.P222H(1)									GTGTGGGTGCCCATGATGAAGG	0.579																																						uc001ydt.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	lung(1)|skin(1)	2						c.(835-837)CCC>CAC|c.(835-837)CCC>CCA		RecName: Full=Serpin A13; Flags: Precursor;																																						388007							g.chr14:95109887C>A|g.chr14:95109888C>A	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191	Exception_encountered	14.37:g.95109887_95109888delinsAA							p.P279H|p.P279P	NR_015340						3	924|925	+									Missense_Mutation|Silent	SNP	ENST00000469935.1	37	c.836C>A|c.837C>A																																																																																					PASS	0.579	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		15|14	24|26	14	24	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96807901	96807901	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:96807901C>T	ENST00000359933.4	-	6	1775	c.882G>A	c.(880-882)ttG>ttA	p.L294L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	294					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.L294L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACGTGAGACTCAACTCCAACC	0.388																																						uc001yfi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(880-882)TTG>TTA		ATG2 autophagy related 2 homolog B							144.0	139.0	141.0					14																	96807901		1926	4136	6062	SO:0001819	synonymous_variant	55102							g.chr14:96807901C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.882G>A	14.37:g.96807901C>T							p.L294L	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	6	1247	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	294					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.882G>A	CCDS9944.2																																																																																				PASS	0.388	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		14	45	14	45	---	---	---	---
WARS	7453	broad.mit.edu	37	14	100808747	100808747	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:100808747C>A	ENST00000355338.2	-	9	1719	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	RP11-638I2.8_ENST00000557226.1_RNA|RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000557135.1_Missense_Mutation_p.Q367H|WARS_ENST00000344102.5_Missense_Mutation_p.Q326H|WARS_ENST00000358655.4_Missense_Mutation_p.Q326H|WARS_ENST00000556645.1_Missense_Mutation_p.Q326H|WARS_ENST00000392882.2_Missense_Mutation_p.Q367H	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	367					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.Q367H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TGGTTTTGATCTGCTTGGCCG	0.622																																						uc001yhf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1099-1101)CAG>CAT		tryptophanyl-tRNA synthetase isoform a	L-Tryptophan(DB00150)						95.0	77.0	83.0					14																	100808747		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100808747C>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1101G>T	14.37:g.100808747C>A	ENSP00000347495:p.Gln367His					WARS_uc001yhe.1_Missense_Mutation_p.Q173H|WARS_uc001yhg.1_Missense_Mutation_p.Q367H|WARS_uc001yhh.1_Missense_Mutation_p.Q367H|WARS_uc001yhi.1_Missense_Mutation_p.Q326H|WARS_uc001yhj.1_Missense_Mutation_p.Q326H|WARS_uc001yhk.1_Missense_Mutation_p.Q326H|WARS_uc001yhl.1_Missense_Mutation_p.Q367H	p.Q367H	NM_173701	NP_776049	P23381	SYWC_HUMAN			8	1185	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	367					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.1101G>T	CCDS9960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.596195|3.596195	0.66332|0.66332	.|.	.|.	ENSG00000140105|ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645|ENST00000554601	T;T;T;T;T;T|.	0.72942|.	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7|.	5.73|5.73	3.74|3.74	0.42951|0.42951	.|.	0.056280|.	0.64402|.	D|.	0.000001|.	T|T	0.81479|0.81479	0.4831|0.4831	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	P|.	0.44006|.	0.824|.	P|.	0.50659|.	0.647|.	T|T	0.82006|0.82006	-0.0671|-0.0671	10|5	0.72032|.	D|.	0.01|.	-5.5231|-5.5231	7.3656|7.3656	0.26770|0.26770	0.0:0.6029:0.0:0.3971|0.0:0.6029:0.0:0.3971	.|.	367|.	P23381|.	SYWC_HUMAN|.	H|I	367;326;367;326;367;326|120	ENSP00000376620:Q367H;ENSP00000351481:Q326H;ENSP00000347495:Q367H;ENSP00000339485:Q326H;ENSP00000451460:Q367H;ENSP00000451887:Q326H|.	ENSP00000339485:Q326H|.	Q|R	-|-	3|2	2|0	WARS|WARS	99878500|99878500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.780000|0.780000	0.44128|0.44128	1.508000|1.508000	0.35769|0.35769	0.654000|0.654000	0.30846|0.30846	-0.140000|-0.140000	0.14226|0.14226	CAG|AGA		PASS	0.622	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		14	40	14	40	---	---	---	---
WARS	7453	broad.mit.edu	37	14	100808790	100808790	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:100808790C>A	ENST00000355338.2	-	9	1676	c.1058G>T	c.(1057-1059)aGc>aTc	p.S353I	RP11-638I2.8_ENST00000557226.1_RNA|RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000557135.1_Missense_Mutation_p.S353I|WARS_ENST00000344102.5_Missense_Mutation_p.S312I|WARS_ENST00000358655.4_Missense_Mutation_p.S312I|WARS_ENST00000556645.1_Missense_Mutation_p.S312I|WARS_ENST00000392882.2_Missense_Mutation_p.S353I	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	353					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.S353I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GTTGGGGTCGCTGGCACTCAT	0.612																																						uc001yhf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1057-1059)AGC>ATC		tryptophanyl-tRNA synthetase isoform a	L-Tryptophan(DB00150)						104.0	88.0	94.0					14																	100808790		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100808790C>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1058G>T	14.37:g.100808790C>A	ENSP00000347495:p.Ser353Ile					WARS_uc001yhe.1_Missense_Mutation_p.S159I|WARS_uc001yhg.1_Missense_Mutation_p.S353I|WARS_uc001yhh.1_Missense_Mutation_p.S353I|WARS_uc001yhi.1_Missense_Mutation_p.S312I|WARS_uc001yhj.1_Missense_Mutation_p.S312I|WARS_uc001yhk.1_Missense_Mutation_p.S312I|WARS_uc001yhl.1_Missense_Mutation_p.S353I	p.S353I	NM_173701	NP_776049	P23381	SYWC_HUMAN			8	1142	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	353			KMSKS region.		A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.1058G>T	CCDS9960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.229420|5.229420	0.95173|0.95173	.|.	.|.	ENSG00000140105|ENSG00000140105	ENST00000554601|ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	.|D;D;D;D;D;D	.|0.87256	.|-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Rossmann-like alpha/beta/alpha sandwich fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96738|0.96738	0.8935|0.8935	H|H	0.98754|0.98754	4.32|4.32	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.98005|0.98005	1.0362|1.0362	5|10	.|0.87932	.|D	.|0	-1.3921|-1.3921	19.8991|19.8991	0.96978|0.96978	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|353	.|P23381	.|SYWC_HUMAN	S|I	106|353;312;353;312;353;312	.|ENSP00000376620:S353I;ENSP00000351481:S312I;ENSP00000347495:S353I;ENSP00000339485:S312I;ENSP00000451460:S353I;ENSP00000451887:S312I	.|ENSP00000339485:S312I	A|S	-|-	1|2	0|0	WARS|WARS	99878543|99878543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.792000|7.792000	0.85828|0.85828	2.708000|2.708000	0.92522|0.92522	0.655000|0.655000	0.94253|0.94253	GCG|AGC		PASS	0.612	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		42	44	42	44	---	---	---	---
BEGAIN	57596	broad.mit.edu	37	14	101010249	101010249	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:101010249G>C	ENST00000355173.2	-	5	368	c.297C>G	c.(295-297)ctC>ctG	p.L99L	BEGAIN_ENST00000443071.2_Silent_p.L99L|BEGAIN_ENST00000556751.1_Silent_p.L35L|BEGAIN_ENST00000554747.1_5'Flank	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	99						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.L99L(1)		cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GATGGCTGTTGAGGGCAACAA	0.617																																					NSCLC(159;1889 2010 9965 27479 40101)	uc010txa.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(295-297)CTC>CTG		brain-enriched guanylate kinase-associated							167.0	94.0	119.0					14																	101010249		2203	4300	6503	SO:0001819	synonymous_variant	57596					cytoplasm|membrane	protein binding	g.chr14:101010249G>C	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.297C>G	14.37:g.101010249G>C						BEGAIN_uc001yhp.2_Silent_p.L35L|BEGAIN_uc001yhq.2_Silent_p.L99L	p.L99L	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN			4	443	-		Melanoma(154;0.212)	99					Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	c.297C>G	CCDS9962.1																																																																																				PASS	0.617	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		7	11	7	11	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103406189	103406189	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:103406189C>T	ENST00000361246.2	-	33	4975	c.4687G>A	c.(4687-4689)Gaa>Aaa	p.E1563K	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.E1563K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGTCTCTCTTCCTCTGGGACC	0.612																																						uc001ymi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(4687-4689)GAA>AAA		CDC42-binding protein kinase beta							165.0	171.0	169.0					14																	103406189		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103406189C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4687G>A	14.37:g.103406189C>T	ENSP00000355237:p.Glu1563Lys						p.E1563K	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	33	4919	-		Melanoma(154;0.155)	1563						Missense_Mutation	SNP	ENST00000361246.2	37	c.4687G>A	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020445	0.75275	.	.	ENSG00000198752	ENST00000361246	T	0.65732	-0.17	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	M	0.85197	2.74	0.80722	D	1	P	0.50819	0.939	P	0.53006	0.715	T	0.77341	-0.2624	10	0.31617	T	0.26	.	17.1012	0.86651	0.0:1.0:0.0:0.0	.	1563	Q9Y5S2	MRCKB_HUMAN	K	1563	ENSP00000355237:E1563K	ENSP00000355237:E1563K	E	-	1	0	CDC42BPB	102475942	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.668000	0.83897	2.091000	0.63221	0.655000	0.94253	GAA		PASS	0.612	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		42	65	42	65	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103406192	103406192	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:103406192C>T	ENST00000361246.2	-	33	4972	c.4684G>A	c.(4684-4686)Gag>Aag	p.E1562K	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.E1562K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTCTCTTCCTCTGGGACCTTG	0.617																																						uc001ymi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(4684-4686)GAG>AAG		CDC42-binding protein kinase beta							166.0	172.0	170.0					14																	103406192		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103406192C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4684G>A	14.37:g.103406192C>T	ENSP00000355237:p.Glu1562Lys						p.E1562K	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	33	4916	-		Melanoma(154;0.155)	1562						Missense_Mutation	SNP	ENST00000361246.2	37	c.4684G>A	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935047	0.73442	.	.	ENSG00000198752	ENST00000361246	T	0.67171	-0.25	4.29	4.29	0.51040	.	0.051227	0.85682	D	0.000000	T	0.75110	0.3805	M	0.72118	2.19	0.80722	D	1	P	0.43633	0.813	P	0.49953	0.627	T	0.79780	-0.1659	10	0.66056	D	0.02	.	17.1012	0.86651	0.0:1.0:0.0:0.0	.	1562	Q9Y5S2	MRCKB_HUMAN	K	1562	ENSP00000355237:E1562K	ENSP00000355237:E1562K	E	-	1	0	CDC42BPB	102475945	1.000000	0.71417	0.906000	0.35671	0.573000	0.36030	7.668000	0.83897	2.091000	0.63221	0.655000	0.94253	GAG		PASS	0.617	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		42	68	42	68	---	---	---	---
TDRD9	122402	broad.mit.edu	37	14	104470664	104470664	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:104470664G>C	ENST00000409874.4	+	14	1621	c.1573G>C	c.(1573-1575)Gag>Cag	p.E525Q	TDRD9_ENST00000339063.5_Missense_Mutation_p.E525Q	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	525	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E525Q(1)|p.E240Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGTTGTTCCTGAGATGTTGGT	0.403																																						uc001yom.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1573-1575)GAG>CAG		tudor domain containing 9							111.0	88.0	96.0					14																	104470664		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104470664G>C	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1573G>C	14.37:g.104470664G>C	ENSP00000387303:p.Glu525Gln					TDRD9_uc001yon.3_Missense_Mutation_p.E263Q	p.E525Q	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			14	1603	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	525			Helicase C-terminal.		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.1573G>C	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.860468|4.860468	0.91433|0.91433	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000409874;ENST00000339063|ENST00000557332	T;T|.	0.13901|.	2.55;2.55|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Helicase, C-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|.	0.86606|.	0.5973|.	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	P;D|.	0.70935|.	0.908;0.971|.	D|.	0.88235|.	0.2906|.	10|.	0.87932|.	D|.	0|.	.|.	20.2033|20.2033	0.98269|0.98269	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	525;525|.	Q8NDG6-2;Q8NDG6|.	.;TDRD9_HUMAN|.	Q|S	525|251	ENSP00000387303:E525Q;ENSP00000343545:E525Q|.	ENSP00000343545:E525Q|.	E|X	+|+	1|2	0|2	TDRD9|TDRD9	103540417|103540417	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.984000|0.984000	0.73092|0.73092	7.073000|7.073000	0.76784|0.76784	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GAG|TGA		PASS	0.403	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		4	12	4	12	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105410407	105410407	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:105410407T>C	ENST00000333244.5	-	7	11500	c.11381A>G	c.(11380-11382)aAg>aGg	p.K3794R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3794						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.K3794R(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)			AGTCACATCCTTGTCGGCCAG	0.582																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(11380-11382)AAG>AGG		AHNAK nucleoprotein 2							228.0	228.0	228.0					14																	105410407		2002	4163	6165	SO:0001583	missense	113146					nucleus		g.chr14:105410407T>C	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.11381A>G	14.37:g.105410407T>C	ENSP00000353114:p.Lys3794Arg					AHNAK2_uc001ypx.2_Missense_Mutation_p.K3694R	p.K3794R	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	11501	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3794					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11381A>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	11.73	1.725060	0.30593	.	.	ENSG00000185567	ENST00000333244	T	0.00882	5.58	4.3	1.73	0.24493	.	1.172930	0.06823	U	0.792542	T	0.02193	0.0068	M	0.83692	2.655	0.09310	N	1	P	0.50819	0.939	P	0.48425	0.577	T	0.42849	-0.9427	10	0.16420	T	0.52	.	1.3088	0.02094	0.1827:0.1019:0.19:0.5254	.	3794	Q8IVF2	AHNK2_HUMAN	R	3794	ENSP00000353114:K3794R	ENSP00000353114:K3794R	K	-	2	0	AHNAK2	104481452	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.035000	0.12205	0.051000	0.15978	0.397000	0.26171	AAG		PASS	0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		100	179	100	179	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105414568	105414568	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:105414568G>C	ENST00000333244.5	-	7	7339	c.7220C>G	c.(7219-7221)cCc>cGc	p.P2407R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2407						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.P2407R(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)			CTTGAAACTGGGCATCTGCAG	0.627																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7219-7221)CCC>CGC		AHNAK nucleoprotein 2							128.0	141.0	137.0					14																	105414568		1844	4099	5943	SO:0001583	missense	113146					nucleus		g.chr14:105414568G>C	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.7220C>G	14.37:g.105414568G>C	ENSP00000353114:p.Pro2407Arg					AHNAK2_uc001ypx.2_Missense_Mutation_p.P2307R	p.P2407R	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	7340	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2407					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7220C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	13.43	2.234135	0.39498	.	.	ENSG00000185567	ENST00000333244	T	0.03212	4.01	3.7	3.7	0.42460	.	.	.	.	.	T	0.23806	0.0576	M	0.90977	3.165	0.35053	D	0.760855	D	0.89917	1.0	D	0.91635	0.999	T	0.51834	-0.8655	9	0.56958	D	0.05	.	15.5196	0.75854	0.0:0.0:1.0:0.0	.	2407	Q8IVF2	AHNK2_HUMAN	R	2407	ENSP00000353114:P2407R	ENSP00000353114:P2407R	P	-	2	0	AHNAK2	104485613	1.000000	0.71417	0.916000	0.36221	0.012000	0.07955	3.817000	0.55668	1.627000	0.50400	0.306000	0.20318	CCC		PASS	0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		33	165	33	165	---	---	---	---
IGHV3-9	28451	broad.mit.edu	37	14	106552558	106552558	+	RNA	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:106552558C>A	ENST00000390600.2	-	0	160									immunoglobulin heavy variable 3-9																		CCAAGCCTCCCCCAGACTCCA	0.552																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							92.0	67.0	76.0					14																	106552558		1844	3509	5353			8755							g.chr14:106552558C>A	M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552558C>A														1447		-									RNA	SNP	ENST00000390600.2	37	c.30277G>T																																																																																					PASS	0.552	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325679.1	NG_001019		21	35	21	35	---	---	---	---
IGHV3-13	28449	broad.mit.edu	37	14	106586427	106586427	+	RNA	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:106586427C>T	ENST00000390602.2	-	0	137									immunoglobulin heavy variable 3-13																		AGCTGCACCTCACACTGGACA	0.517																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							120.0	117.0	118.0					14																	106586427		1924	4127	6051			8755							g.chr14:106586427C>T	X92217		14q32.33	2012-02-08			ENSG00000211942	ENSG00000211942		"""Immunoglobulins / IGH locus"""	5581	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152295		14.37:g.106586427C>T						uc001ysv.2_RNA								1286		-									RNA	SNP	ENST00000390602.2	37	c.27803G>A																																																																																					PASS	0.517	IGHV3-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325683.1	NG_001019		28	105	28	105	---	---	---	---
IGHV3-23	28442	broad.mit.edu	37	14	106725423	106725423	+	RNA	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:106725423G>C	ENST00000390609.2	-	0	207									immunoglobulin heavy variable 3-23																		TGAATCCAGAGGCTGCACAGG	0.577																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							119.0	151.0	141.0					14																	106725423		1970	4166	6136			8755							g.chr14:106725423G>C	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725423G>C														588		-									RNA	SNP	ENST00000390609.2	37	c.18124C>G																																																																																					PASS	0.577	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		23	101	23	101	---	---	---	---
IGHV3-33	28434	broad.mit.edu	37	14	106815779	106815779	+	RNA	SNP	C	C	A	rs546372821	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:106815779C>A	ENST00000390615.2	-	0	373									immunoglobulin heavy variable 3-33																		TTTGCAGATACAGCGTGTTCT	0.498																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							117.0	167.0	151.0					14																	106815779		1900	4103	6003			8755							g.chr14:106815779C>A	L06618		14q32.33	2012-02-10			ENSG00000211955	ENSG00000211955		"""Immunoglobulins / IGH locus"""	5596	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152077		14.37:g.106815779C>A														342		-									RNA	SNP	ENST00000390615.2	37	c.13380G>T																																																																																					PASS	0.498	IGHV3-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325171.1	NG_001019		23	108	23	108	---	---	---	---
IGHV3-43	28426	broad.mit.edu	37	14	106926233	106926233	+	RNA	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:106926233G>T	ENST00000434710.1	-	0	388									immunoglobulin heavy variable 3-43																		TTCTCAGACTGTTCATTTGCA	0.488																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							303.0	216.0	244.0					14																	106926233		2036	4181	6217			8755							g.chr14:106926233G>T	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926233G>T						uc010tyu.1_Intron								235		-									RNA	SNP	ENST00000434710.1	37	c.10322C>A																																																																																					PASS	0.488	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		17	136	17	136	---	---	---	---
ARHGAP11B	89839	broad.mit.edu	37	15	30919108	30919108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:30919108C>T	ENST00000428041.2	+	1	230	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	RP11-932O9.7_ENST00000501830.2_RNA	NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	29					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q29*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TGTCCGTGGGCAGTGCGATCG	0.502																																						uc001zet.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(85-87)CAG>TAG		Rho GTPase activating protein 11B							59.0	56.0	57.0					15																	30919108		2202	4297	6499	SO:0001587	stop_gained	89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30919108C>T	BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.85C>T	15.37:g.30919108C>T	ENSP00000392760:p.Gln29*					ARHGAP11B_uc010azv.1_Intron|ARHGAP11B_uc001zeu.2_RNA	p.Q29*	NM_001039841	NP_001034930	Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	1	230	+		all_lung(180;2.71e-09)|Breast(32;0.00116)	29						Nonsense_Mutation	SNP	ENST00000428041.2	37	c.85C>T	CCDS32185.1	.	.	.	.	.	.	.	.	.	.	.	16.73	3.204029	0.58234	.	.	ENSG00000187951	ENST00000428041	.	.	.	2.21	2.21	0.28008	.	0.146305	0.23151	U	0.051353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	8.0067	0.30329	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000392760:Q29X	Q	+	1	0	ARHGAP11B	28706400	0.438000	0.25602	0.999000	0.59377	0.293000	0.27360	1.674000	0.37544	1.536000	0.49237	0.184000	0.17185	CAG		PASS	0.502	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	NM_001039841		4	18	4	18	---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32929102	32929102	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:32929102G>C	ENST00000361627.3	+	12	2850	c.2128G>C	c.(2128-2130)Gat>Cat	p.D710H	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.D521H|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.D521H	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	710					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D710H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TATGCCAAAAGATTATTTAAG	0.284																																					Colon(45;757 1134 30003 36652)	uc001zgy.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|breast(2)|urinary_tract(1)	6						c.(2128-2130)GAT>CAT		Rho GTPase activating protein 11A isoform 1							28.0	31.0	30.0					15																	32929102		2198	4287	6485	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929102G>C	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2128G>C	15.37:g.32929102G>C	ENSP00000355090:p.Asp710His					ARHGAP11A_uc010ubw.1_Missense_Mutation_p.D521H|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.D521H	p.D710H	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2850	+		all_lung(180;1.3e-11)	710					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2128G>C	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	13.69	2.311154	0.40895	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.12147	2.71	4.97	4.05	0.47172	.	0.429406	0.21877	N	0.067797	T	0.28466	0.0704	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	P	0.60173	0.87	T	0.04017	-1.0984	10	0.72032	D	0.01	.	10.8558	0.46798	0.1527:0.0:0.8473:0.0	.	710	Q6P4F7	RHGBA_HUMAN	H	710;521	ENSP00000355090:D710H	ENSP00000355090:D710H	D	+	1	0	ARHGAP11A	30716394	0.160000	0.22878	0.003000	0.11579	0.695000	0.40330	2.232000	0.43018	1.449000	0.47699	0.650000	0.86243	GAT		PASS	0.284	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		14	11	14	11	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33991934	33991934	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:33991934C>A	ENST00000389232.4	+	41	6349	c.6279C>A	c.(6277-6279)tgC>tgA	p.C2093*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.C2093*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2093	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.C2093*(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGCTGCTGCCGTTTCC	0.438																																						uc001zhi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6277-6279)TGC>TGA		ryanodine receptor 3							113.0	103.0	106.0					15																	33991934		1889	4121	6010	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33991934C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6279C>A	15.37:g.33991934C>A	ENSP00000373884:p.Cys2093*					RYR3_uc010bar.2_Nonsense_Mutation_p.C2093*	p.C2093*	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	41	6349	+		all_lung(180;7.18e-09)	2093			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.6279C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	47	13.655247	0.99755	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	4.9	1.64	0.23874	.	0.052959	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8258	0.35054	0.0:0.4922:0.0:0.5078	.	.	.	.	X	2093	.	ENSP00000354735:C2093X	C	+	3	2	RYR3	31779226	0.972000	0.33761	1.000000	0.80357	0.998000	0.95712	0.112000	0.15479	0.231000	0.21079	0.643000	0.83706	TGC		PASS	0.438	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	14	8	14	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34065783	34065783	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:34065783C>A	ENST00000389232.4	+	64	9174	c.9104C>A	c.(9103-9105)tCc>tAc	p.S3035Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3035Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3035					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.S3035Y(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCCTCTACTCCCTTGGGACG	0.388																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9103-9105)TCC>TAC		ryanodine receptor 3							107.0	94.0	98.0					15																	34065783		1923	4139	6062	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34065783C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9104C>A	15.37:g.34065783C>A	ENSP00000373884:p.Ser3035Tyr					RYR3_uc010bar.2_Missense_Mutation_p.S3035Y	p.S3035Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	64	9174	+		all_lung(180;7.18e-09)	3035					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9104C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014340	0.93404	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.96885	-0.33;-4.16	6.17	6.17	0.99709	.	0.125775	0.56097	D	0.000033	D	0.96932	0.8998	M	0.78916	2.43	0.58432	D	0.999997	P;P	0.52316	0.952;0.913	P;P	0.47075	0.536;0.459	D	0.96785	0.9578	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	3035;3035	Q15413-2;Q15413	.;RYR3_HUMAN	Y	3035	ENSP00000373884:S3035Y;ENSP00000399610:S3035Y	ENSP00000354735:S3035Y	S	+	2	0	RYR3	31853075	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.895000	0.63214	2.941000	0.99782	0.655000	0.94253	TCC		PASS	0.388	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	18	8	18	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34131112	34131112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:34131112G>T	ENST00000389232.4	+	89	13001	c.12931G>T	c.(12931-12933)Gaa>Taa	p.E4311*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E4306*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4311					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E4310*(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGCAAGGATGAACCCCCTAC	0.453																																						uc001zhi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(12931-12933)GAA>TAA		ryanodine receptor 3							54.0	52.0	53.0					15																	34131112		1901	4113	6014	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34131112G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12931G>T	15.37:g.34131112G>T	ENSP00000373884:p.Glu4311*					RYR3_uc010bar.2_Nonsense_Mutation_p.E4306*	p.E4311*	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	13001	+		all_lung(180;7.18e-09)	4311					O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.12931G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	54	21.639780	0.99942	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	.	.	.	4.67	4.67	0.58626	.	0.544862	0.17693	N	0.165219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	8.9097	0.35546	0.1371:0.0:0.8629:0.0	.	.	.	.	X	4311;4307	.	ENSP00000354735:E4307X	E	+	1	0	RYR3	31918404	0.953000	0.32496	0.983000	0.44433	0.938000	0.57974	2.190000	0.42630	2.415000	0.81967	0.655000	0.94253	GAA		PASS	0.453	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			16	30	16	30	---	---	---	---
MEIS2	4212	broad.mit.edu	37	15	37187378	37187378	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:37187378T>A	ENST00000561208.1	-	11	1539	c.1121A>T	c.(1120-1122)cAg>cTg	p.Q374L	MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.Q367L|MEIS2_ENST00000397620.2_Missense_Mutation_p.Q279L|MEIS2_ENST00000340545.5_Missense_Mutation_p.Q354L|MEIS2_ENST00000559085.1_Missense_Mutation_p.Q361L|MEIS2_ENST00000219869.9_Missense_Mutation_p.Q228L|MEIS2_ENST00000397624.3_Missense_Mutation_p.Q279L|MEIS2_ENST00000444725.1_Missense_Mutation_p.Q367L|MEIS2_ENST00000382766.2_Missense_Mutation_p.Q367L|MEIS2_ENST00000557796.2_Missense_Mutation_p.Q354L|MEIS2_ENST00000559561.1_Missense_Mutation_p.Q367L|MEIS2_ENST00000424352.2_Missense_Mutation_p.Q374L			O14770	MEIS2_HUMAN	Meis homeobox 2	374	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q374L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CATGTGTTGCTGACCATCCAA	0.562																																						uc001zjr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1120-1122)CAG>CTG		Meis homeobox 2 isoform c							110.0	102.0	105.0					15																	37187378		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37187378T>A	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1121A>T	15.37:g.37187378T>A	ENSP00000453793:p.Gln374Leu					MEIS2_uc001zjl.2_Missense_Mutation_p.Q361L|MEIS2_uc010ucj.1_Missense_Mutation_p.Q354L|MEIS2_uc001zjm.2_Missense_Mutation_p.Q279L|MEIS2_uc001zjn.2_Missense_Mutation_p.Q228L|MEIS2_uc001zjo.2_Missense_Mutation_p.Q374L|MEIS2_uc001zjp.2_Missense_Mutation_p.Q367L|MEIS2_uc001zjs.2_Missense_Mutation_p.Q367L|MEIS2_uc001zju.2_Missense_Mutation_p.Q354L|MEIS2_uc001zjt.2_Missense_Mutation_p.Q367L|MEIS2_uc001zjj.2_Missense_Mutation_p.Q70L|MEIS2_uc001zjk.2_Missense_Mutation_p.Q63L	p.Q374L	NM_170675	NP_733775	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	11	2158	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	374					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.1121A>T	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219881	0.39201	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	D;D;D;D;D;D;D	0.89415	-2.29;-2.29;-2.17;-2.25;-2.25;-2.22;-2.51	5.77	5.77	0.91146	.	0.119564	0.64402	D	0.000015	D	0.93703	0.7988	M	0.68952	2.095	0.80722	D	1	B;B;D;B;P;P;D;B;B;D	0.89917	0.026;0.166;0.999;0.096;0.902;0.895;0.985;0.058;0.204;1.0	B;B;D;B;B;P;D;B;B;D	0.91635	0.033;0.261;0.978;0.106;0.442;0.573;0.983;0.049;0.143;0.999	D	0.94214	0.7461	10	0.72032	D	0.01	-1.3125	16.0926	0.81101	0.0:0.0:0.0:1.0	.	354;367;374;367;374;228;279;361;354;70	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98;B7Z6F6;Q6V703	.;.;MEIS2_HUMAN;.;.;.;.;.;.;.	L	374;367;367;374;367;354;361;279;228	ENSP00000341400:Q367L;ENSP00000372216:Q367L;ENSP00000404185:Q374L;ENSP00000391887:Q367L;ENSP00000339549:Q354L;ENSP00000380745:Q279L;ENSP00000219869:Q228L	ENSP00000219869:Q228L	Q	-	2	0	MEIS2	34974670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.208000	0.71279	0.533000	0.62120	CAG		PASS	0.562	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		27	39	27	39	---	---	---	---
MEIS2	4212	broad.mit.edu	37	15	37390191	37390191	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:37390191C>A	ENST00000561208.1	-	2	640	c.222G>T	c.(220-222)aaG>aaT	p.K74N	MEIS2_ENST00000338564.5_Missense_Mutation_p.K74N|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000340545.5_Missense_Mutation_p.K61N|MEIS2_ENST00000559085.1_Missense_Mutation_p.K61N|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000444725.1_Missense_Mutation_p.K74N|MEIS2_ENST00000382766.2_Missense_Mutation_p.K74N|MEIS2_ENST00000557796.2_Missense_Mutation_p.K61N|MEIS2_ENST00000559561.1_Missense_Mutation_p.K74N|MEIS2_ENST00000424352.2_Missense_Mutation_p.K74N			O14770	MEIS2_HUMAN	Meis homeobox 2	74	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.K74N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCTTGTCCCGCTTCAAGGCGT	0.627																																						uc001zjr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(220-222)AAG>AAT		Meis homeobox 2 isoform c							69.0	62.0	64.0					15																	37390191		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37390191C>A	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.222G>T	15.37:g.37390191C>A	ENSP00000453793:p.Lys74Asn					MEIS2_uc001zjl.2_Missense_Mutation_p.K61N|MEIS2_uc010ucj.1_Missense_Mutation_p.K61N|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.K74N|MEIS2_uc001zjp.2_Missense_Mutation_p.K74N|MEIS2_uc001zjs.2_Missense_Mutation_p.K74N|MEIS2_uc001zju.2_Missense_Mutation_p.K61N|MEIS2_uc001zjt.2_Missense_Mutation_p.K74N	p.K74N	NM_170675	NP_733775	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	2	1259	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	74					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.222G>T	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651085	0.88056	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;T	0.35605	1.3;1.5;1.5;1.3;1.3;1.51	5.51	1.43	0.22495	.	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.979;0.987;0.999;0.991;0.999;0.979	T	0.54098	-0.8344	10	0.62326	D	0.03	-12.3976	6.6865	0.23148	0.1129:0.6209:0.0:0.2662	.	61;74;74;74;74;61	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	N	74;74;74;74;74;61;61	ENSP00000326296:K74N;ENSP00000341400:K74N;ENSP00000372216:K74N;ENSP00000404185:K74N;ENSP00000391887:K74N;ENSP00000339549:K61N	ENSP00000326296:K74N	K	-	3	2	MEIS2	35177483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.445000	0.44899	0.270000	0.21984	0.655000	0.94253	AAG		PASS	0.627	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		7	14	7	14	---	---	---	---
NDUFAF1	51103	broad.mit.edu	37	15	41680695	41680695	+	Missense_Mutation	SNP	G	G	C	rs201756363		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:41680695G>C	ENST00000260361.4	-	4	1166	c.785C>G	c.(784-786)tCt>tGt	p.S262C		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	262					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)	p.S262C(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TCCTCGATTAGAGAAGAAAAA	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		19278	0.001		0.0	False		,,,				2504	0.0					uc001znx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(784-786)TCT>TGT		NADH dehydrogenase (ubiquinone) 1 alpha							56.0	59.0	58.0					15																	41680695		2203	4300	6503	SO:0001583	missense	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41680695G>C	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.785C>G	15.37:g.41680695G>C	ENSP00000260361:p.Ser262Cys					NDUFAF1_uc010bcf.2_RNA	p.S262C	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	4	1167	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	262					Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	c.785C>G	CCDS10075.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.8	4.044898	0.75732	.	.	ENSG00000137806	ENST00000260361	T	0.77877	-1.13	5.43	4.51	0.55191	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.111425	0.64402	D	0.000008	D	0.88544	0.6465	M	0.84846	2.72	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.90289	0.4321	10	0.87932	D	0	0.3062	14.1573	0.65426	0.0722:0.0:0.9278:0.0	.	262	Q9Y375	CIA30_HUMAN	C	262	ENSP00000260361:S262C	ENSP00000260361:S262C	S	-	2	0	NDUFAF1	39467987	1.000000	0.71417	0.997000	0.53966	0.801000	0.45260	7.360000	0.79487	1.299000	0.44798	0.557000	0.71058	TCT		PASS	0.338	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		14	23	14	23	---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42442310	42442310	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:42442310C>A	ENST00000382396.4	-	10	1001	c.915G>T	c.(913-915)gtG>gtT	p.V305V	PLA2G4F_ENST00000397272.3_Silent_p.V305V			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	305					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.V305V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACCTCATTTCCACCTTCATGC	0.592																																						uc001zoz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(913-915)GTG>GTT		phospholipase A2, group IVF							90.0	79.0	83.0					15																	42442310		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42442310C>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.915G>T	15.37:g.42442310C>A						PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Silent_p.V56V|PLA2G4F_uc001zpa.2_Silent_p.V56V|PLA2G4F_uc010bcs.2_Silent_p.V92V	p.V305V	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	10	978	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	305					Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.915G>T	CCDS32204.1																																																																																				PASS	0.592	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		14	9	14	9	---	---	---	---
ADAL	161823	broad.mit.edu	37	15	43641146	43641146	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:43641146G>A	ENST00000562188.1	+	8	691	c.675G>A	c.(673-675)ctG>ctA	p.L225L	ADAL_ENST00000389651.4_Silent_p.L225L|ADAL_ENST00000428046.3_Silent_p.L198L|ADAL_ENST00000422466.2_Silent_p.L225L			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	225					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)	p.L225L(1)|p.L198L(1)		endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TCCTGGATCTGCTTCCTGACA	0.458																																						uc010udo.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(592-594)CTG>CTA		adenosine deaminase-like isoform 1							109.0	103.0	105.0					15																	43641146		2201	4299	6500	SO:0001819	synonymous_variant	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43641146G>A		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.675G>A	15.37:g.43641146G>A						ADAL_uc001zrh.2_Silent_p.L225L|ADAL_uc001zri.1_Silent_p.L110L	p.L198L	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	10	1168	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	225					A6NHZ3|B4DQM8	Silent	SNP	ENST00000562188.1	37	c.594G>A																																																																																					PASS	0.458	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		25	26	25	26	---	---	---	---
SLC27A2	11001	broad.mit.edu	37	15	50475061	50475061	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:50475061G>A	ENST00000267842.5	+	1	669	c.437G>A	c.(436-438)tGc>tAc	p.C146Y	SLC27A2_ENST00000380902.4_Missense_Mutation_p.C146Y	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	146					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.C146Y(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTGCTGCACTGCTTCCAGTGC	0.662																																						uc001zxw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(436-438)TGC>TAC		solute carrier family 27 (fatty acid							89.0	98.0	95.0					15																	50475061		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50475061G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.437G>A	15.37:g.50475061G>A	ENSP00000267842:p.Cys146Tyr					SLC27A2_uc010bes.2_Missense_Mutation_p.C146Y	p.C146Y	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	1	669	+		all_lung(180;0.00177)	146			Lumenal (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.437G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524754	0.85600	.	.	ENSG00000140284	ENST00000380902;ENST00000267842	T;T	0.40476	1.03;1.03	4.42	4.42	0.53409	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.986	T	0.79678	-0.1703	10	0.87932	D	0	.	14.8898	0.70600	0.0:0.0:1.0:0.0	.	146;146	Q6PF09;O14975	.;S27A2_HUMAN	Y	146	ENSP00000370289:C146Y;ENSP00000267842:C146Y	ENSP00000267842:C146Y	C	+	2	0	SLC27A2	48262353	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.828000	0.62730	2.446000	0.82766	0.561000	0.74099	TGC		PASS	0.662	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		41	44	41	44	---	---	---	---
SCG3	29106	broad.mit.edu	37	15	51973991	51973991	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:51973991A>G	ENST00000220478.3	+	1	442	c.39A>G	c.(37-39)ttA>ttG	p.L13L	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	13					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.L13L(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTCTGGTGTTAGTGCTCCCGA	0.522																																						uc002abh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(37-39)TTA>TTG		secretogranin III isoform 1 precursor							116.0	95.0	102.0					15																	51973991		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51973991A>G	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.39A>G	15.37:g.51973991A>G						SCG3_uc010ufz.1_5'UTR	p.L13L	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	1	447	+			13					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.39A>G	CCDS10142.1																																																																																				PASS	0.522	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		16	11	16	11	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307002	54307002	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:54307002G>C	ENST00000260323.11	+	1	1902	c.1902G>C	c.(1900-1902)gtG>gtC	p.V634V	UNC13C_ENST00000545554.1_Silent_p.V634V|UNC13C_ENST00000537900.1_Silent_p.V634V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	634					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.V634V(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)		ATGGCATGGTGTGTGCATCTG	0.458																																						uc002ack.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(1900-1902)GTG>GTC		unc-13 homolog C							159.0	157.0	157.0					15																	54307002		2077	4208	6285	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307002G>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.1902G>C	15.37:g.54307002G>C							p.V634V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1902	+			634					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.1902G>C	CCDS45264.1																																																																																				PASS	0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		38	57	38	57	---	---	---	---
GCNT3	9245	broad.mit.edu	37	15	59910815	59910815	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:59910815A>G	ENST00000396065.1	+	3	826	c.378A>G	c.(376-378)aaA>aaG	p.K126K	GCNT3_ENST00000560585.1_Silent_p.K126K	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	126					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.K126K(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACTGAGCAAAGAAGAGGTGG	0.468																																						uc002age.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(376-378)AAA>AAG		glucosaminyl (N-acetyl) transferase 3, mucin							84.0	90.0	88.0					15																	59910815		2190	4290	6480	SO:0001819	synonymous_variant	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59910815A>G	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.378A>G	15.37:g.59910815A>G						GCNT3_uc002agd.2_Silent_p.K126K	p.K126K	NM_004751	NP_004742	O95395	GCNT3_HUMAN			3	827	+			126			Lumenal (Potential).			Silent	SNP	ENST00000396065.1	37	c.378A>G	CCDS10172.1																																																																																				PASS	0.468	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		21	30	21	30	---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73614857	73614857	+	Missense_Mutation	SNP	C	C	G	rs200507617		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:73614857C>G	ENST00000261917.3	-	8	4570	c.3577G>C	c.(3577-3579)Gag>Cag	p.E1193Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1193					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.E1193Q(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCACTGGCTCAGGCCTGGCC	0.567																																						uc002avp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)	6						c.(3577-3579)GAG>CAG		hyperpolarization activated cyclic		C	GLN/GLU	0,4386		0,0,2193	16.0	17.0	17.0		3577	3.5	1.0	15		17	2,8578		0,2,4288	yes	missense	HCN4	NM_005477.2	29	0,2,6481	GG,GC,CC		0.0233,0.0,0.0154	possibly-damaging	1193/1204	73614857	2,12964	2193	4290	6483	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73614857C>G	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3577G>C	15.37:g.73614857C>G	ENSP00000261917:p.Glu1193Gln						p.E1193Q	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4571	-			1193			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.3577G>C	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839818	0.32513	0.0	2.33E-4	ENSG00000138622	ENST00000261917	D	0.97710	-4.5	3.52	3.52	0.40303	.	.	.	.	.	D	0.94404	0.8200	L	0.34521	1.04	0.37689	D	0.923768	B	0.29162	0.235	B	0.19666	0.026	D	0.94716	0.7896	9	0.62326	D	0.03	.	13.1926	0.59719	0.0:1.0:0.0:0.0	.	1193	Q9Y3Q4	HCN4_HUMAN	Q	1193	ENSP00000261917:E1193Q	ENSP00000261917:E1193Q	E	-	1	0	HCN4	71401910	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.840000	0.55843	1.660000	0.50760	0.305000	0.20034	GAG		PASS	0.567	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		6	4	6	4	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74574143	74574143	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:74574143G>A	ENST00000398814.3	+	10	1479	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	CCDC33_ENST00000321288.5_Missense_Mutation_p.D553N	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	553								p.D553N(1)|p.D350N(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AACTATCAATGATGAGGCCCC	0.592																																						uc002axo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(1048-1050)GAT>AAT		coiled-coil domain containing 33 isoform 1							78.0	79.0	78.0					15																	74574143		1931	4125	6056	SO:0001583	missense	80125						protein binding	g.chr15:74574143G>A	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1048G>A	15.37:g.74574143G>A	ENSP00000381795:p.Asp350Asn					CCDC33_uc002axp.2_Missense_Mutation_p.D172N	p.D350N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			10	1442	+			553					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.1048G>A	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	G	6.282	0.420198	0.11928	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.23348	1.91;2.25	4.75	3.83	0.44106	.	0.189633	0.35349	N	0.003273	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.15484	0.001;0.013	T	0.17561	-1.0365	10	0.39692	T	0.17	.	8.8029	0.34920	0.102:0.0:0.898:0.0	.	553;350	C9JFX2;Q8N5R6-6	.;.	N	553;350	ENSP00000325012:D553N;ENSP00000381795:D350N	ENSP00000325012:D553N	D	+	1	0	CCDC33	72361196	0.892000	0.30473	0.031000	0.17742	0.109000	0.19521	2.335000	0.43929	1.222000	0.43521	0.561000	0.74099	GAT		PASS	0.592	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		40	37	40	37	---	---	---	---
CRABP1	1381	broad.mit.edu	37	15	78635882	78635882	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:78635882G>T	ENST00000299529.6	+	3	396	c.291G>T	c.(289-291)acG>acT	p.T97T		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	97					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.T97T(1)		breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	TCCACTGCACGCAAACTCTTC	0.512																																					Ovarian(146;578 3231 38536)	uc002bdp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(289-291)ACG>ACT		cellular retinoic acid binding protein 1	Alitretinoin(DB00523)|Etretinate(DB00926)						88.0	71.0	77.0					15																	78635882		2196	4293	6489	SO:0001819	synonymous_variant	1381				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	g.chr15:78635882G>T		CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"""Fatty acid binding protein family"""	2338	protein-coding gene	gene with protein product		180230	"""cellular retinoic acid-binding protein 1"""	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.291G>T	15.37:g.78635882G>T							p.T97T	NM_004378	NP_004369	P29762	RABP1_HUMAN			3	396	+			97					Q6IAY7|Q8WTV5	Silent	SNP	ENST00000299529.6	37	c.291G>T	CCDS10301.1																																																																																				PASS	0.512	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2	NM_004378		11	28	11	28	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79290512	79290512	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:79290512G>T	ENST00000419573.3	-	20	3214	c.2940C>A	c.(2938-2940)atC>atA	p.I980I	RASGRF1_ENST00000394745.3_Silent_p.I196I|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.I964I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	980					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I980I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCAGGAAGCCGATCACCTTGC	0.557																																						uc002beq.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(2938-2940)ATC>ATA		Ras protein-specific guanine							157.0	126.0	137.0					15																	79290512		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79290512G>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2940C>A	15.37:g.79290512G>T						RASGRF1_uc002bep.2_Silent_p.I964I|RASGRF1_uc010blm.1_Silent_p.I889I|RASGRF1_uc002ber.3_Silent_p.I964I|RASGRF1_uc010unh.1_Silent_p.I375I|RASGRF1_uc002beo.2_Silent_p.I196I	p.I980I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			20	3315	-			982					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2940C>A	CCDS10309.1																																																																																				PASS	0.557	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		13	36	13	36	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79750590	79750590	+	Nonsense_Mutation	SNP	A	A	T	rs369027269		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:79750590A>T	ENST00000305428.3	+	2	2176	c.2101A>T	c.(2101-2103)Aaa>Taa	p.K701*		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	701						integral component of membrane (GO:0016021)		p.K701*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCTTAAAAAAAAGCCTCTT	0.552																																						uc002bew.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2101-2103)AAA>TAA		hypothetical protein LOC23251							116.0	113.0	114.0					15																	79750590		2196	4293	6489	SO:0001587	stop_gained	23251					integral to membrane		g.chr15:79750590A>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2101A>T	15.37:g.79750590A>T	ENSP00000307461:p.Lys701*					KIAA1024_uc010unk.1_Nonsense_Mutation_p.K701*	p.K701*	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	2176	+			701					A7MD43	Nonsense_Mutation	SNP	ENST00000305428.3	37	c.2101A>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	A	37	5.992758	0.97179	.	.	ENSG00000169330	ENST00000305428	.	.	.	5.68	4.52	0.55395	.	0.048949	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7303	0.57195	0.8625:0.1375:0.0:0.0	.	.	.	.	X	701	.	.	K	+	1	0	KIAA1024	77537645	1.000000	0.71417	0.087000	0.20705	0.306000	0.27790	6.714000	0.74692	0.933000	0.37291	0.533000	0.62120	AAA		PASS	0.552	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		48	80	48	80	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81578086	81578086	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:81578086T>A	ENST00000302987.4	+	9	1247	c.1247T>A	c.(1246-1248)cTg>cAg	p.L416Q	IL16_ENST00000394660.2_Missense_Mutation_p.L416Q			Q14005	IL16_HUMAN	interleukin 16	416	Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L416Q(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTGCACTGCCTGACGCTCAAT	0.502																																						uc002bgh.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(1246-1248)CTG>CAG		interleukin 16 isoform 2							163.0	163.0	163.0					15																	81578086		2086	4202	6288	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81578086T>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1247T>A	15.37:g.81578086T>A	ENSP00000302935:p.Leu416Gln					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.L416Q|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.L458Q|IL16_uc002bgg.2_Missense_Mutation_p.L416Q|IL16_uc002bgi.1_5'UTR	p.L416Q	NM_172217	NP_757366	Q14005	IL16_HUMAN			10	1623	+			416			PDZ 2.|Interaction with GRIN2A.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1247T>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128052	0.37533	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.20069	2.1;2.1	5.07	5.07	0.68467	PDZ/DHR/GLGF (3);	0.366272	0.23175	N	0.051086	T	0.17195	0.0413	L	0.39898	1.24	0.80722	D	1	B;B	0.26258	0.09;0.145	B;B	0.27887	0.039;0.084	T	0.07404	-1.0774	10	0.66056	D	0.02	.	6.3269	0.21248	0.1411:0.0764:0.0:0.7824	.	416;416	Q14005;Q14005-2	IL16_HUMAN;.	Q	416;416;248;416	ENSP00000378155:L416Q;ENSP00000302935:L416Q	ENSP00000302935:L416Q	L	+	2	0	IL16	79365141	1.000000	0.71417	0.996000	0.52242	0.661000	0.39034	2.339000	0.43965	2.134000	0.65973	0.533000	0.62120	CTG		PASS	0.502	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		39	26	39	26	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81625278	81625278	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:81625278C>T	ENST00000359440.5	-	22	2920	c.2785G>A	c.(2785-2787)Gca>Aca	p.A929T	RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A930T|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.A933T(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACCCGGGATGCATATTGTCGC	0.522																																						uc002bgo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(2785-2787)GCA>ACA		transmembrane channel-like 3							47.0	48.0	48.0					15																	81625278		1947	4127	6074	SO:0001583	missense	342125					integral to membrane		g.chr15:81625278C>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2785G>A	15.37:g.81625278C>T	ENSP00000352413:p.Ala929Thr					TMC3_uc010blr.1_RNA	p.A929T	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			22	2785	-			929			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.2785G>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557754	0.27827	.	.	ENSG00000188869	ENST00000359440	T	0.62105	0.05	5.31	0.214	0.15249	.	1.611500	0.04670	U	0.410484	T	0.53286	0.1787	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42916	-0.9423	10	0.52906	T	0.07	-2.3587	6.3461	0.21351	0.1247:0.5351:0.0:0.3402	.	929	Q7Z5M5	TMC3_HUMAN	T	929	ENSP00000352413:A929T	ENSP00000352413:A929T	A	-	1	0	TMC3	79412333	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.093000	0.15086	0.134000	0.18681	-0.140000	0.14226	GCA		PASS	0.522	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		15	24	15	24	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81637256	81637256	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:81637256G>T	ENST00000359440.5	-	13	1504	c.1369C>A	c.(1369-1371)Cgg>Agg	p.R457R	TMC3_ENST00000558726.1_Silent_p.R458R|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.R457R(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATTCCAGGCCGAGATGTGGAC	0.478																																						uc002bgo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|liver(1)	2						c.(1369-1371)CGG>AGG		transmembrane channel-like 3							103.0	98.0	100.0					15																	81637256		1924	4136	6060	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81637256G>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1369C>A	15.37:g.81637256G>T						TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.R457R	p.R457R	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			13	1369	-			457			Cytoplasmic (Potential).			Silent	SNP	ENST00000359440.5	37	c.1369C>A	CCDS45324.1																																																																																				PASS	0.478	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		7	27	7	27	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86697678	86697678	+	Missense_Mutation	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:86697678A>C	ENST00000441037.2	+	3	237	c.142A>C	c.(142-144)Aag>Cag	p.K48Q	AGBL1_ENST00000421325.2_Missense_Mutation_p.K48Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	48					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.K48Q(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GATTGGACGGAAGGCCCTAGA	0.448																																						uc002blz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)AAG>CAG		ATP/GTP binding protein-like 1							82.0	83.0	83.0					15																	86697678		1920	4126	6046	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86697678A>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.142A>C	15.37:g.86697678A>C	ENSP00000413001:p.Lys48Gln						p.K48Q	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			3	222	+			48					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.142A>C	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477187	0.44044	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.34275	1.37	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.60907	0.2305	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65569	-0.6136	9	0.66056	D	0.02	-18.8703	12.106	0.53813	1.0:0.0:0.0:0.0	.	48	Q96MI9	CBPC4_HUMAN	Q	77;48	ENSP00000397173:K48Q	ENSP00000397173:K48Q	K	+	1	0	AGBL1	84498682	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	5.107000	0.64603	2.167000	0.68274	0.528000	0.53228	AAG		PASS	0.448	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		5	30	5	30	---	---	---	---
MSLN	10232	broad.mit.edu	37	16	818700	818700	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:818700C>T	ENST00000382862.3	+	17	1955	c.1860C>T	c.(1858-1860)gtC>gtT	p.V620V	MSLN_ENST00000566549.1_Silent_p.V612V|MSLN_ENST00000545450.2_Silent_p.V612V|MIR662_ENST00000384847.1_RNA|MSLN_ENST00000563941.1_Silent_p.V612V	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	620					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V620V(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TTCTCACCGTCCTGGCACTGC	0.701																																						uc002cjw.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1858-1860)GTC>GTT		mesothelin isoform 2 preproprotein							71.0	60.0	64.0					16																	818700		2194	4293	6487	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:818700C>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1860C>T	16.37:g.818700C>T						MSLN_uc002cjt.1_Silent_p.V612V|MSLN_uc002cju.1_Silent_p.V612V|MSLN_uc010brd.1_Silent_p.V611V|MSLN_uc002cjv.1_Silent_p.V602V|MSLN_uc002cjx.1_Silent_p.V612V|MSLN_uc002cjy.1_Missense_Mutation_p.P305S|MIR662_hsa-mir-662|MI0003670_5'Flank	p.V620V	NM_013404	NP_037536	Q13421	MSLN_HUMAN			17	1911	+		Hepatocellular(780;0.00335)	620					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.1860C>T	CCDS32356.1																																																																																				PASS	0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			22	12	22	12	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2373534	2373534	+	Silent	SNP	G	G	T	rs200729333	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:2373534G>T	ENST00000301732.5	-	7	1303	c.603C>A	c.(601-603)ggC>ggA	p.G201G	ABCA3_ENST00000567910.1_Silent_p.G201G|ABCA3_ENST00000382381.3_Silent_p.G201G	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	201					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G201G(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CAGGTTCTCCGCCATCAGGGG	0.532																																						uc002cpy.1																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(601-603)GGC>GGA		ATP-binding cassette, sub-family A member 3							185.0	197.0	193.0					16																	2373534		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2373534G>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.603C>A	16.37:g.2373534G>T						ABCA3_uc010bsk.1_Silent_p.G201G|ABCA3_uc010bsl.1_Silent_p.G201G|ABCA3_uc002cpz.1_Silent_p.G201G	p.G201G	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			7	1315	-		Ovarian(90;0.17)	201					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.603C>A	CCDS10466.1																																																																																				PASS	0.532	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		116	110	116	110	---	---	---	---
SEC14L5	9717	broad.mit.edu	37	16	5058478	5058478	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:5058478G>T	ENST00000251170.7	+	14	1809	c.1629G>T	c.(1627-1629)ctG>ctT	p.L543L	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	543	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.L543L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TTGACATCCTGCGAGGGGACG	0.647																																						uc002cye.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1627-1629)CTG>CTT		SEC14-like 5							40.0	47.0	45.0					16																	5058478		2038	4184	6222	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5058478G>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1629G>T	16.37:g.5058478G>T							p.L543L	NM_014692	NP_055507	O43304	S14L5_HUMAN			14	1809	+			543			GOLD.			Silent	SNP	ENST00000251170.7	37	c.1629G>T	CCDS45403.1																																																																																				PASS	0.647	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			17	6	17	6	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14989462	14989462	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:14989462C>T	ENST00000287667.7	+	31	3800	c.3629C>T	c.(3628-3630)gCa>gTa	p.A1210V		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1210						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.A1210V(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CCAGAAGATGCAAAGAGACAA	0.582																																						uc002dcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3628-3630)GCA>GTA		nodal modulator 1 precursor							252.0	320.0	297.0					16																	14989462		2193	4297	6490	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14989462C>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3629C>T	16.37:g.14989462C>T	ENSP00000287667:p.Ala1210Val						p.A1210V	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			31	3695	+			1210			Cytoplasmic (Potential).		P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.3629C>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	C	8.732	0.916873	0.17907	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.55413	0.52	2.99	-0.367	0.12541	.	0.272984	0.34507	N	0.003914	T	0.29684	0.0741	L	0.27053	0.805	0.34712	D	0.727802	B	0.02656	0.0	B	0.04013	0.001	T	0.22730	-1.0208	10	0.11182	T	0.66	-1.4188	6.7214	0.23332	0.0:0.5951:0.0:0.4049	.	1210	Q15155	NOMO1_HUMAN	V	1210;1210;1043	ENSP00000287667:A1210V	ENSP00000287667:A1210V	A	+	2	0	NOMO1	14896963	0.781000	0.28676	0.315000	0.25238	0.986000	0.74619	1.417000	0.34770	0.094000	0.17404	0.384000	0.25694	GCA		PASS	0.582	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			71	177	71	177	---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17202698	17202698	+	Missense_Mutation	SNP	C	C	A	rs375891355		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:17202698C>A	ENST00000261381.6	-	12	2818	c.2734G>T	c.(2734-2736)Ggg>Tgg	p.G912W		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	912					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.G912W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCCACATCCCGCCCACCAAC	0.682																																						uc002dfa.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2734-2736)GGG>TGG		xylosyltransferase I							60.0	51.0	54.0					16																	17202698		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17202698C>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2734G>T	16.37:g.17202698C>A	ENSP00000261381:p.Gly912Trp						p.G912W	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			12	2819	-			912			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2734G>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.060201	0.55432	.	.	ENSG00000103489	ENST00000261381	T	0.04603	3.59	5.7	1.42	0.22433	.	0.570147	0.21217	N	0.078209	T	0.12732	0.0309	L	0.53249	1.67	0.09310	N	0.999998	D	0.76494	0.999	D	0.65684	0.937	T	0.04191	-1.0970	10	0.72032	D	0.01	-12.878	8.5872	0.33666	0.0:0.4508:0.0:0.5492	.	912	Q86Y38	XYLT1_HUMAN	W	912	ENSP00000261381:G912W	ENSP00000261381:G912W	G	-	1	0	XYLT1	17110199	0.027000	0.19231	0.110000	0.21437	0.951000	0.60555	0.154000	0.16343	0.021000	0.15133	0.655000	0.94253	GGG		PASS	0.682	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		10	12	10	12	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20329729	20329729	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:20329729C>T	ENST00000381362.4	-	8	1116	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.G200E|GP2_ENST00000341642.5_Missense_Mutation_p.G197E|GP2_ENST00000302555.5_Missense_Mutation_p.G344E	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	347	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.G344E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTCTCCATTCCCGTCCACACT	0.473																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1039-1041)GGG>GAG		zymogen granule membrane glycoprotein 2 isoform							231.0	200.0	211.0					16																	20329729		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20329729C>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1040G>A	16.37:g.20329729C>T	ENSP00000370767:p.Gly347Glu					GP2_uc002dgw.2_Missense_Mutation_p.G344E|GP2_uc002dgx.2_Missense_Mutation_p.G200E|GP2_uc002dgy.2_Missense_Mutation_p.G197E	p.G347E	NM_001007240	NP_001007241	P55259	GP2_HUMAN			8	1123	-			347			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1040G>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130063	0.77549	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.8	4.85	0.62838	Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.88459	0.6442	M	0.79475	2.455	0.48341	D	0.999631	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.99;0.997	D	0.88450	0.3048	9	0.56958	D	0.05	-32.1939	11.8947	0.52650	0.0:0.9169:0.0:0.0831	.	197;325;344;347	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	E	344;347;200;197;325	ENSP00000304044:G344E;ENSP00000370767:G347E;ENSP00000370765:G200E;ENSP00000343861:G197E	ENSP00000304044:G344E	G	-	2	0	GP2	20237230	0.011000	0.17503	0.240000	0.24138	0.027000	0.11550	1.106000	0.31098	2.741000	0.93983	0.650000	0.86243	GGG		PASS	0.473	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		29	154	29	154	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21093016	21093016	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:21093016G>A	ENST00000261383.3	-	20	2909	c.2910C>T	c.(2908-2910)ccC>ccT	p.P970P	DNAH3_ENST00000415178.1_Silent_p.P970P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	970	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.P970P(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCGTTTCGGTGGGCTTTATCT	0.438																																						uc010vbe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(2908-2910)CCC>CCT		dynein, axonemal, heavy chain 3							170.0	162.0	165.0					16																	21093016		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21093016G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2910C>T	16.37:g.21093016G>A							p.P970P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	20	2910	-			970			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.2910C>T	CCDS10594.1																																																																																				PASS	0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		14	108	14	108	---	---	---	---
EEF2K	29904	broad.mit.edu	37	16	22260121	22260121	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:22260121C>G	ENST00000263026.5	+	4	867	c.393C>G	c.(391-393)atC>atG	p.I131M		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	131	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.I131M(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AAGTTCTGATCAAGATGGCAT	0.567																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(391-393)ATC>ATG		elongation factor-2 kinase							137.0	107.0	117.0					16																	22260121		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22260121C>G	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.393C>G	16.37:g.22260121C>G	ENSP00000263026:p.Ile131Met					EEF2K_uc002dkh.2_RNA	p.I131M	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	4	878	+			131			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.393C>G	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	9.995	1.231959	0.22626	.	.	ENSG00000103319	ENST00000263026	T	0.08546	3.08	4.97	4.97	0.65823	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.102382	0.64402	D	0.000005	T	0.12050	0.0293	M	0.80183	2.485	0.53005	D	0.999963	P	0.35124	0.485	B	0.30646	0.118	T	0.01397	-1.1365	10	0.87932	D	0	-9.7493	8.6531	0.34046	0.1517:0.7705:0.0:0.0778	.	131	O00418	EF2K_HUMAN	M	131	ENSP00000263026:I131M	ENSP00000263026:I131M	I	+	3	3	EEF2K	22167622	0.996000	0.38824	1.000000	0.80357	0.288000	0.27193	0.427000	0.21379	2.463000	0.83235	0.462000	0.41574	ATC		PASS	0.567	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		18	24	18	24	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24802560	24802560	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:24802560G>T	ENST00000395799.3	+	6	2726	c.2597G>T	c.(2596-2598)tGg>tTg	p.W866L	TNRC6A_ENST00000315183.7_Missense_Mutation_p.W866L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	866	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|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)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.W866L(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AATAACCATTGGGGTGAGGCC	0.463																																						uc002dmm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2596-2598)TGG>TTG		trinucleotide repeat containing 6A							83.0	80.0	81.0					16																	24802560		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802560G>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2597G>T	16.37:g.24802560G>T	ENSP00000379144:p.Trp866Leu					TNRC6A_uc010bxs.2_Missense_Mutation_p.W613L|TNRC6A_uc010vcc.1_Missense_Mutation_p.W613L|TNRC6A_uc002dmn.2_Missense_Mutation_p.W613L|TNRC6A_uc002dmo.2_Missense_Mutation_p.W613L	p.W866L	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2711	+			866			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.2597G>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521653	0.44866	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13307	2.6;2.6	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.41710	1.295	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.929;0.994	T	0.01382	-1.1369	10	0.02654	T	1	-3.5562	20.3854	0.98941	0.0:0.0:1.0:0.0	.	613;866;866	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	L	866	ENSP00000326900:W866L;ENSP00000379144:W866L	ENSP00000326900:W866L	W	+	2	0	TNRC6A	24710061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.168000	0.94781	2.825000	0.97269	0.655000	0.94253	TGG		PASS	0.463	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		20	19	20	19	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24953356	24953356	+	Missense_Mutation	SNP	C	C	A	rs367801427		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:24953356C>A	ENST00000289968.6	-	16	1511	c.1442G>T	c.(1441-1443)cGg>cTg	p.R481L	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R481L|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	481					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.R481L(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTAGCAGGCCGCTTCCTCTC	0.483																																						uc002dnb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1441-1443)CGG>CTG		nadrin isoform 1							106.0	98.0	101.0					16																	24953356		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24953356C>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1442G>T	16.37:g.24953356C>A	ENSP00000289968:p.Arg481Leu					ARHGAP17_uc002dmz.2_5'Flank|ARHGAP17_uc002dna.2_Missense_Mutation_p.R208L|ARHGAP17_uc002dnc.2_Missense_Mutation_p.R481L|ARHGAP17_uc010vcf.1_Missense_Mutation_p.R302L	p.R481L	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	16	1535	-			481					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1442G>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272101	0.95429	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.26660	1.72;1.91	5.85	5.85	0.93711	.	0.000000	0.37577	N	0.002030	T	0.50069	0.1594	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.35500	-0.9786	10	0.48119	T	0.1	.	17.6572	0.88181	0.0:1.0:0.0:0.0	.	481;481	Q68EM7-2;Q68EM7	.;RHG17_HUMAN	L	481	ENSP00000289968:R481L;ENSP00000303130:R481L	ENSP00000289968:R481L	R	-	2	0	ARHGAP17	24860857	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.969000	0.76092	2.773000	0.95371	0.655000	0.94253	CGG		PASS	0.483	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		43	30	43	30	---	---	---	---
C16orf82	162083	broad.mit.edu	37	16	27078550	27078550	+	lincRNA	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:27078550G>A	ENST00000505035.1	+	0	523				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		AGCACCCGAGGCCAGAGGAGG	0.647																																						uc010vcm.1																			0					0						c.(232-234)AGG>AGA		hypothetical protein LOC162083							21.0	29.0	27.0					16																	27078550		2192	4289	6481			162083							g.chr16:27078550G>A	BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27078550G>A							p.R78R	NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN			1	332	+			141					B9EGC2|Q8NEF0	Silent	SNP	ENST00000505035.1	37	c.234G>A																																																																																					PASS	0.647	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545		3	3	3	3	---	---	---	---
SPN	6693	broad.mit.edu	37	16	29675658	29675658	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:29675658C>A	ENST00000360121.3	+	2	701	c.609C>A	c.(607-609)ccC>ccA	p.P203P	SPN_ENST00000395389.2_Silent_p.P203P	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	148	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P203P(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCACTGGACCCCCTGTTACCA	0.567																																						uc002dtm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(607-609)CCC>CCA		sialophorin precursor							98.0	107.0	104.0					16																	29675658		2197	4300	6497	SO:0001819	synonymous_variant	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675658C>A	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.609C>A	16.37:g.29675658C>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Silent_p.P203P|SPN_uc010bzd.2_RNA	p.P203P	NM_001030288	NP_001025459	P16150	LEUK_HUMAN			2	745	+			203			Extracellular (Potential).		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000360121.3	37	c.609C>A	CCDS10650.1																																																																																				PASS	0.567	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			90	54	90	54	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31435470	31435470	+	Silent	SNP	C	C	T	rs575673930		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:31435470C>T	ENST00000389202.2	+	28	3256	c.3207C>T	c.(3205-3207)ttC>ttT	p.F1069F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1069					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.F1069F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAATTACGTTCGACACATCCG	0.557																																						uc002ebv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3205-3207)TTC>TTT		integrin, alpha D precursor							111.0	94.0	100.0					16																	31435470		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31435470C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3207C>T	16.37:g.31435470C>T						ITGAD_uc010cap.1_Silent_p.F1070F	p.F1069F	NM_005353	NP_005344	Q13349	ITAD_HUMAN			28	3256	+			1069			Extracellular (Potential).		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.3207C>T	CCDS32438.1																																																																																				PASS	0.557	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	33	7	33	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31435806	31435806	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:31435806G>A	ENST00000389202.2	+	29	3329	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1094					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.E1094K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTGCTAGAAGAAGACGAGGT	0.542																																						uc002ebv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3280-3282)GAA>AAA		integrin, alpha D precursor							117.0	96.0	103.0					16																	31435806		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31435806G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3280G>A	16.37:g.31435806G>A	ENSP00000373854:p.Glu1094Lys					ITGAD_uc010cap.1_Missense_Mutation_p.E1095K	p.E1094K	NM_005353	NP_005344	Q13349	ITAD_HUMAN			29	3329	+			1094			Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.3280G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	1.208	-0.630431	0.03610	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.40756	1.02	5.15	0.117	0.14652	.	.	.	.	.	T	0.17619	0.0423	N	0.11201	0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29941	-0.9995	9	0.02654	T	1	.	7.4702	0.27344	0.1032:0.4325:0.4642:0.0	.	1110;1094	Q59H14;Q13349	.;ITAD_HUMAN	K	1110;1094	ENSP00000373854:E1094K	ENSP00000373854:E1094K	E	+	1	0	ITGAD	31343307	0.010000	0.17322	0.010000	0.14722	0.011000	0.07611	0.472000	0.22116	0.461000	0.27071	0.563000	0.77884	GAA		PASS	0.542	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		11	22	11	22	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647500	33647500	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:33647500C>A	ENST00000558425.1	-	2	99	c.100G>T	c.(100-102)Ggg>Tgg	p.G34W																								AGGGACCCCCCAGGCTGTACC	0.572																																						uc010vga.1																			0													Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0002h.							77.0	89.0	85.0					16																	33647500		1827	4087	5914	SO:0001583	missense	0							g.chr16:33647500C>A																												ENST00000558425.1:c.100G>T	16.37:g.33647500C>A	ENSP00000475107:p.Gly34Trp													1		-									RNA	SNP	ENST00000558425.1	37	c.43G>T																																																																																					PASS	0.572	RP11-812E19.9-201	KNOWN	basic	protein_coding	protein_coding				26	76	26	76	---	---	---	---
NETO2	81831	broad.mit.edu	37	16	47117419	47117419	+	Missense_Mutation	SNP	C	C	A	rs555638989		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:47117419C>A	ENST00000562435.1	-	9	1675	c.1291G>T	c.(1291-1293)Gcc>Tcc	p.A431S	NETO2_ENST00000303155.5_Missense_Mutation_p.A424S	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	431					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.A431S(1)|p.A431T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CAGCGGGAGGCGGTGGAGGAG	0.527										HNSCC(25;0.065)																												uc002eer.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1291-1293)GCC>TCC		neuropilin- and tolloid-like protein 2							96.0	88.0	91.0					16																	47117419		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47117419C>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1291G>T	16.37:g.47117419C>A	ENSP00000455169:p.Ala431Ser	HNSCC(25;0.065)				NETO2_uc002eeq.1_Missense_Mutation_p.A166S|NETO2_uc010vgf.1_Missense_Mutation_p.A288S	p.A431S	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN			9	1676	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	431			Cytoplasmic (Potential).		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.1291G>T	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	8.549	0.875067	0.17395	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.78	3.8	0.43715	.	0.168392	0.56097	D	0.000021	T	0.17959	0.0431	N	0.08118	0	0.32811	D	0.501452	B;B;B	0.27013	0.02;0.02;0.166	B;B;B	0.29663	0.018;0.03;0.105	T	0.31833	-0.9929	9	0.02654	T	1	.	7.2357	0.26067	0.1386:0.7228:0.0:0.1386	.	288;431;107	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	S	431	.	ENSP00000306726:A431S	A	-	1	0	NETO2	45674920	0.897000	0.30589	0.697000	0.30258	0.416000	0.31233	1.719000	0.38011	0.771000	0.33359	0.655000	0.94253	GCC		PASS	0.527	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		20	36	20	36	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50746191	50746191	+	Missense_Mutation	SNP	G	G	T	rs5743279	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:50746191G>T	ENST00000300589.2	+	4	2474	c.2369G>T	c.(2368-2370)cGg>cTg	p.R790L	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	790			R -> Q (in dbSNP:rs5743279).		activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.R790L(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAGCACCTCCGGCGGCCCGTG	0.607																																						uc002egm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2368-2370)CGG>CTG		nucleotide-binding oligomerization domain							95.0	88.0	90.0					16																	50746191		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50746191G>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2369G>T	16.37:g.50746191G>T	ENSP00000300589:p.Arg790Leu					NOD2_uc010cbk.1_Missense_Mutation_p.R763L|NOD2_uc002egl.1_Missense_Mutation_p.R568L|NOD2_uc010cbl.1_Missense_Mutation_p.R568L|NOD2_uc010cbm.1_Missense_Mutation_p.R568L|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_RNA|NOD2_uc010cbq.1_5'UTR|NOD2_uc010cbr.1_RNA	p.R790L	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	2474	+		all_cancers(37;0.0156)	790					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2369G>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	5.876	0.345805	0.11126	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.52295	0.67	5.3	-0.17	0.13335	.	0.234851	0.28983	N	0.013509	T	0.49201	0.1543	M	0.72479	2.2	0.09310	N	1	B;P;P	0.46142	0.418;0.873;0.765	B;P;B	0.47430	0.081;0.547;0.211	T	0.47195	-0.9136	10	0.62326	D	0.03	.	8.9611	0.35847	0.5027:0.0:0.4973:0.0	.	574;763;790	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	L	763;790	ENSP00000300589:R790L	ENSP00000300589:R790L	R	+	2	0	NOD2	49303692	0.000000	0.05858	0.988000	0.46212	0.065000	0.16274	0.196000	0.17176	0.076000	0.16826	-0.254000	0.11334	CGG		PASS	0.607	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		32	53	32	53	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58559117	58559117	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:58559117G>C	ENST00000317147.5	-	46	7082	c.6750C>G	c.(6748-6750)atC>atG	p.I2250M	CNOT1_ENST00000245138.4_Missense_Mutation_p.I1101M|CNOT1_ENST00000569240.1_Missense_Mutation_p.I2245M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2250					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.I2250M(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AATTCTGGAAGATATCCATGT	0.493																																						uc002env.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(6748-6750)ATC>ATG		CCR4-NOT transcription complex, subunit 1							204.0	158.0	174.0					16																	58559117		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58559117G>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6750C>G	16.37:g.58559117G>C	ENSP00000320949:p.Ile2250Met					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.I2245M|CNOT1_uc002ent.2_Missense_Mutation_p.I188M|CNOT1_uc010vik.1_Missense_Mutation_p.I1207M	p.I2250M	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	46	7043	-			2250					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6750C>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095587	0.76870	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.54675	0.56	6.08	4.09	0.47781	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.91635	0.999;0.986;0.999	T	0.75286	-0.3371	10	0.42905	T	0.14	-5.0687	14.9243	0.70866	0.0:0.0:0.7406:0.2594	.	1101;2250;2245	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	M	2250;944;255;1101	ENSP00000320949:I2250M	ENSP00000245138:I1101M	I	-	3	3	CNOT1	57116618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.456000	0.66665	0.833000	0.34828	0.591000	0.81541	ATC		PASS	0.493	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		27	64	27	64	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61687817	61687817	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:61687817C>A	ENST00000577390.1	-	12	3049	c.2095G>T	c.(2095-2097)Gat>Tat	p.D699Y	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Missense_Mutation_p.D699Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	699					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.D699Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGTTTAATATCCTTACGGGGT	0.428																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(2095-2097)GAT>TAT		cadherin 8, type 2 preproprotein							106.0	106.0	106.0					16																	61687817		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687817C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2095G>T	16.37:g.61687817C>A	ENSP00000462701:p.Asp699Tyr						p.D699Y	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2347	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	699			Cytoplasmic (Potential).		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2095G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227773	0.58668	.	.	ENSG00000150394	ENST00000299345	T	0.79247	-1.25	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90665	0.7072	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92028	0.5631	10	0.87932	D	0	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	699	P55286	CADH8_HUMAN	Y	699	ENSP00000299345:D699Y	ENSP00000299345:D699Y	D	-	1	0	CDH8	60245318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.727000	0.68523	2.679000	0.91253	0.655000	0.94253	GAT		PASS	0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		20	75	20	75	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72153940	72153940	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:72153940C>G	ENST00000237353.10	-	20	3078	c.2817G>C	c.(2815-2817)ctG>ctC	p.L939L	PMFBP1_ENST00000355636.6_Silent_p.L814L|PMFBP1_ENST00000537465.1_Silent_p.L944L|PMFBP1_ENST00000537792.1_Intron	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	944						cytoplasm (GO:0005737)		p.L939L(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCTCCTTCTTCAGCTTCTTGT	0.537																																						uc002fcc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2830-2832)CTG>CTC		polyamine modulated factor 1 binding protein 1							232.0	215.0	221.0					16																	72153940		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72153940C>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2817G>C	16.37:g.72153940C>G						PMFBP1_uc002fcd.2_Silent_p.L939L|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.L814L	p.L944L	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			20	3004	-		Ovarian(137;0.179)	944			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.2832G>C	CCDS32483.1																																																																																				PASS	0.537	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		25	56	25	56	---	---	---	---
NUDT7	283927	broad.mit.edu	37	16	77769814	77769814	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:77769814C>A	ENST00000268533.5	+	3	348	c.279C>A	c.(277-279)gcC>gcA	p.A93A	NUDT7_ENST00000437314.3_Intron|NUDT7_ENST00000564085.1_Silent_p.A93A|NUDT7_ENST00000568787.1_Silent_p.A93A|NUDT7_ENST00000563839.1_Intron	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	93	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.A93A(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TCCGGGAAGCCCAGGAGGAAG	0.542																																						uc010chd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(277-279)GCC>GCA		nudix motif 7							115.0	121.0	119.0					16																	77769814		2025	4181	6206	SO:0001819	synonymous_variant	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77769814C>A	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.279C>A	16.37:g.77769814C>A						NUDT7_uc010vnj.1_Intron	p.A93A	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN			3	348	+			93			Nudix hydrolase.|Nudix box.		B4DLE5|H3BUB8	Silent	SNP	ENST00000268533.5	37	c.279C>A	CCDS42195.1																																																																																				PASS	0.542	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			21	63	21	63	---	---	---	---
VAT1L	57687	broad.mit.edu	37	16	77913097	77913097	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:77913097G>T	ENST00000302536.2	+	6	1011	c.858G>T	c.(856-858)aaG>aaT	p.K286N	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	286							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.K286N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GAGAGACCAAGAGCTTCTTCA	0.383																																						uc002ffg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(856-858)AAG>AAT		vesicle amine transport protein 1 homolog (T.							193.0	179.0	184.0					16																	77913097		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77913097G>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.858G>T	16.37:g.77913097G>T	ENSP00000303129:p.Lys286Asn						p.K286N	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			6	955	+			286					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.858G>T	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131659	0.77662	.	.	ENSG00000171724	ENST00000302536	T	0.27720	1.65	5.91	4.95	0.65309	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	M	0.80847	2.515	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.55547	-0.8124	10	0.87932	D	0	-21.7494	6.0233	0.19640	0.2489:0.0:0.7511:0.0	.	286	Q9HCJ6	VAT1L_HUMAN	N	286	ENSP00000303129:K286N	ENSP00000303129:K286N	K	+	3	2	VAT1L	76470598	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.700000	0.68318	2.793000	0.96121	0.655000	0.94253	AAG		PASS	0.383	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		25	84	25	84	---	---	---	---
WWOX	51741	broad.mit.edu	37	16	79245630	79245630	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:79245630C>G	ENST00000566780.1	+	9	1548	c.1182C>G	c.(1180-1182)gcC>gcG	p.A394A	RP11-679B19.2_ENST00000569677.1_lincRNA|WWOX_ENST00000402655.2_Missense_Mutation_p.P179A|WWOX_ENST00000539474.2_Missense_Mutation_p.P204R|WWOX_ENST00000406884.2_Silent_p.A214A	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	394	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)	p.A394A(1)|p.P236A(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		AAGAGACGGCCCGGACCCTGT	0.627																																						uc002ffk.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(1180-1182)GCC>GCG		WW domain-containing oxidoreductase isoform 1							52.0	56.0	55.0					16																	79245630		2002	4165	6167	SO:0001819	synonymous_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:79245630C>G	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1182C>G	16.37:g.79245630C>G						WWOX_uc010vnk.1_Silent_p.A281A|WWOX_uc002ffl.2_Silent_p.A214A|WWOX_uc010che.2_Missense_Mutation_p.P179A	p.A394A	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	9	1307	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	394			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	37	c.1182C>G	CCDS42196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.50|10.50	1.367451|1.367451	0.24771|0.24771	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000402655;ENST00000299644|ENST00000539474	T|T	0.39787|0.39997	1.06|1.05	5.67|5.67	-0.269|-0.269	0.12930|0.12930	.|.	.|.	.|.	.|.	.|.	T|T	0.50034|0.50034	0.1592|0.1592	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.11235|.	0.004|.	B|.	0.11329|.	0.006|.	T|T	0.53443|0.53443	-0.8438|-0.8438	8|6	0.72032|0.87932	D|D	0.01|0	.|.	9.5136|9.5136	0.39091|0.39091	0.1067:0.3111:0.5207:0.0615|0.1067:0.3111:0.5207:0.0615	.|.	179|.	Q9NZC7-6|.	.|.	A|R	179;236|204	ENSP00000384238:P179A|ENSP00000445210:P204R	ENSP00000299644:P236A|ENSP00000445210:P204R	P|P	+|+	1|2	0|0	WWOX|WWOX	77803131|77803131	0.000000|0.000000	0.05858|0.05858	0.996000|0.996000	0.52242|0.52242	0.665000|0.665000	0.39181|0.39181	-0.655000|-0.655000	0.05348|0.05348	0.021000|0.021000	0.15133|0.15133	0.563000|0.563000	0.77884|0.77884	CCG|CCC		PASS	0.627	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			9	39	9	39	---	---	---	---
KCNG4	93107	broad.mit.edu	37	16	84271026	84271026	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:84271026A>G	ENST00000308251.4	-	2	134	c.66T>C	c.(64-66)ccT>ccC	p.P22P	KCNG4_ENST00000568181.1_Silent_p.P22P	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	22					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P22P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCTGACTCCAAGGGCTGTGGG	0.627																																						uc010voc.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(64-66)CCT>CCC		potassium voltage-gated channel, subfamily G,							47.0	51.0	50.0					16																	84271026		2200	4300	6500	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84271026A>G	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.66T>C	16.37:g.84271026A>G						KCNG4_uc002fhu.1_Silent_p.P22P	p.P22P	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	187	-			22			Cytoplasmic (Potential).		Q96H24	Silent	SNP	ENST00000308251.4	37	c.66T>C	CCDS10945.1																																																																																				PASS	0.627	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		12	29	12	29	---	---	---	---
BANP	54971	broad.mit.edu	37	16	88061218	88061218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:88061218C>A	ENST00000393207.1	+	8	1222	c.1001C>A	c.(1000-1002)tCg>tAg	p.S334*	BANP_ENST00000355163.5_Nonsense_Mutation_p.S309*|BANP_ENST00000479780.2_Nonsense_Mutation_p.S303*|BANP_ENST00000286122.7_Nonsense_Mutation_p.S334*|BANP_ENST00000355022.4_Nonsense_Mutation_p.S303*|BANP_ENST00000393208.2_Nonsense_Mutation_p.S303*|BANP_ENST00000538234.1_Nonsense_Mutation_p.S342*	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	334	Interaction with CUX1 and HDAC1. {ECO:0000250}.|Necessary and sufficient for TP53 activation. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S334*(1)|p.S303*(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AAGAGCTTCTCGCGGAGAACG	0.677																																						uc002fkr.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(997-999)TCG>TAG		BTG3 associated nuclear protein isoform b							59.0	64.0	62.0					16																	88061218		2198	4300	6498	SO:0001587	stop_gained	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88061218C>A	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1001C>A	16.37:g.88061218C>A	ENSP00000376902:p.Ser334*					BANP_uc002fkp.2_Nonsense_Mutation_p.S303*|BANP_uc002fkq.2_Nonsense_Mutation_p.S303*|BANP_uc010vow.1_Nonsense_Mutation_p.S341*|BANP_uc002fks.3_Nonsense_Mutation_p.S302*|BANP_uc002fko.1_Nonsense_Mutation_p.S239*|BANP_uc010vov.1_Nonsense_Mutation_p.S308*	p.S333*	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	8	1222	+			334			Necessary and sufficient for TP53 activation (By similarity).|Interaction with CUX1 and HDAC1 (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Nonsense_Mutation	SNP	ENST00000393207.1	37	c.998C>A	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	39	7.778725	0.98483	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5861	0.87982	0.0:1.0:0.0:0.0	.	.	.	.	X	334;309;299;303;303;303;303;342;334	.	ENSP00000286122:S334X	S	+	2	0	BANP	86618719	1.000000	0.71417	0.961000	0.40146	0.968000	0.65278	7.146000	0.77373	2.378000	0.81104	0.462000	0.41574	TCG		PASS	0.677	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		17	41	17	41	---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88691009	88691009	+	Splice_Site	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:88691009G>C	ENST00000301011.5	+	12	2098		c.e12-1		ZC3H18_ENST00000452588.2_Splice_Site	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18							nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTGTCTCACAGAGAGAAGTCA	0.662																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e12-1		zinc finger CCCH-type containing 18							37.0	52.0	47.0					16																	88691009		2198	4299	6497	SO:0001630	splice_region_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88691009G>C	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1899-1G>C	16.37:g.88691009G>C						ZC3H18_uc010voz.1_Splice_Site_p.G657_splice|ZC3H18_uc010chw.2_Splice_Site|ZC3H18_uc002fkz.2_5'Flank	p.G633_splice	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	12	2099	+								Q96DG4|Q96MP7	Splice_Site	SNP	ENST00000301011.5	37	c.1899_splice	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499943	0.26861	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3162	0.87225	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZC3H18	87218510	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	4.884000	0.63135	2.527000	0.85204	0.655000	0.94253	.		PASS	0.662	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	Intron	6	9	6	9	---	---	---	---
MVD	4597	broad.mit.edu	37	16	88722558	88722558	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr16:88722558C>G	ENST00000301012.3	-	5	587	c.558G>C	c.(556-558)gtG>gtC	p.V186V	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	186					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)	p.V186V(1)		endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACTCGGGGGCCACTTGCCGAG	0.682																																						uc002flg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(556-558)GTG>GTC		diphosphomevalonate decarboxylase							77.0	68.0	71.0					16																	88722558		2198	4300	6498	SO:0001819	synonymous_variant	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88722558C>G	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.558G>C	16.37:g.88722558C>G						MVD_uc002flf.1_Silent_p.V55V	p.V186V	NM_002461	NP_002452	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	5	565	-			186					Q53Y65	Silent	SNP	ENST00000301012.3	37	c.558G>C	CCDS10968.1																																																																																				PASS	0.682	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		11	34	11	34	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2541586	2541586	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:2541586G>T	ENST00000397195.5	+	2	455	c.4G>T	c.(4-6)Gtg>Ttg	p.V2L	PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)									p.V2L(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGCCAAGATGGTGCTGTCCCA	0.358																																						uc002fuw.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(4-6)GTG>TTG		platelet-activating factor acetylhydrolase,							89.0	82.0	85.0					17																	2541586		2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2541586G>T	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.4G>T	17.37:g.2541586G>T	ENSP00000380378:p.Val2Leu					PAFAH1B1_uc010ckb.1_RNA	p.V2L	NM_000430	NP_000421	P43034	LIS1_HUMAN			2	572	+			2			Required for self-association and interaction with PAFAH1B2 and PAFAH1B3 (By similarity).|Interaction with NDEL1 (By similarity).|Interaction with NDE1 (By similarity).			Missense_Mutation	SNP	ENST00000397195.5	37	c.4G>T	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588874	0.46110	.	.	ENSG00000007168	ENST00000397195	D	0.81499	-1.5	5.28	5.28	0.74379	.	0.058916	0.64402	D	0.000002	T	0.77301	0.4110	L	0.55990	1.75	0.80722	D	1	B	0.22746	0.074	B	0.24701	0.055	T	0.71600	-0.4544	10	0.21014	T	0.42	.	16.7398	0.85456	0.0:0.0:1.0:0.0	.	2	P43034	LIS1_HUMAN	L	2	ENSP00000380378:V2L	ENSP00000380378:V2L	V	+	1	0	PAFAH1B1	2488336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.634000	0.74290	2.620000	0.88729	0.591000	0.81541	GTG		PASS	0.358	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		4	25	4	25	---	---	---	---
SLC16A11	162515	broad.mit.edu	37	17	6946295	6946295	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:6946295G>T	ENST00000308009.1	-	2	709	c.372C>A	c.(370-372)ttC>ttA	p.F124L	SLC16A11_ENST00000447225.1_Missense_Mutation_p.F100L	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	124					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.F124L(1)		endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GATCGCTGGCGAAAGCCGAGA	0.687																																						uc002gei.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(370-372)TTC>TTA		solute carrier family 16, member 11							23.0	28.0	26.0					17																	6946295		2202	4298	6500	SO:0001583	missense	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6946295G>T	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.372C>A	17.37:g.6946295G>T	ENSP00000310490:p.Phe124Leu						p.F124L	NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN			2	710	-			124			Helical; (Potential).			Missense_Mutation	SNP	ENST00000308009.1	37	c.372C>A	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299860	0.40694	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.60672	0.17;0.17	5.18	1.88	0.25563	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.130238	0.56097	D	0.000031	T	0.55737	0.1939	L	0.28274	0.84	0.33755	D	0.621071	D	0.71674	0.998	D	0.68621	0.959	T	0.62062	-0.6933	10	0.42905	T	0.14	.	5.8001	0.18410	0.4589:0.0:0.5411:0.0	.	124	Q8NCK7	MOT11_HUMAN	L	124;100	ENSP00000310490:F124L;ENSP00000394449:F100L	ENSP00000310490:F124L	F	-	3	2	SLC16A11	6887019	0.996000	0.38824	1.000000	0.80357	0.591000	0.36615	0.417000	0.21214	0.699000	0.31761	-0.263000	0.10527	TTC		PASS	0.687	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		6	7	6	7	---	---	---	---
TMEM102	284114	broad.mit.edu	37	17	7339853	7339853	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:7339853C>G	ENST00000323206.1	+	3	828	c.555C>G	c.(553-555)gaC>gaG	p.D185E	RP11-104H15.8_ENST00000576615.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.D185E|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575235.1_5'Flank|FGF11_ENST00000293829.4_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	185					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)		p.D185E(1)		kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GTTCCAAGGACTGGCAAAGCT	0.582																																						uc002ggx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)GAC>GAG		transmembrane protein 102							91.0	89.0	89.0					17																	7339853		2203	4300	6503	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7339853C>G	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.555C>G	17.37:g.7339853C>G	ENSP00000315387:p.Asp185Glu					FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Missense_Mutation_p.D185E	p.D185E	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN			3	828	+		Prostate(122;0.173)	185			Extracellular (Potential).		D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.555C>G	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	C	7.526	0.657679	0.14645	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.42131	0.98;0.98	4.94	-0.939	0.10408	.	0.979822	0.08359	N	0.957946	T	0.27454	0.0674	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29640	-1.0005	10	0.08837	T	0.75	-25.9214	1.4668	0.02408	0.1481:0.4494:0.1442:0.2582	.	185	Q8N9M5	TM102_HUMAN	E	185	ENSP00000315387:D185E;ENSP00000379815:D185E	ENSP00000315387:D185E	D	+	3	2	TMEM102	7280577	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	-0.936000	0.03946	-0.177000	0.10690	0.655000	0.94253	GAC		PASS	0.582	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		24	42	24	42	---	---	---	---
ODF4	146852	broad.mit.edu	37	17	8243550	8243550	+	Missense_Mutation	SNP	C	C	A	rs147153349		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:8243550C>A	ENST00000328248.2	+	1	369	c.181C>A	c.(181-183)Cgc>Agc	p.R61S	RP11-849F2.4_ENST00000585275.1_lincRNA|ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	61					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)		p.R61S(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592																																						uc002gle.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(181-183)CGC>AGC		outer dense fiber of sperm tails 4							83.0	76.0	79.0					17																	8243550		2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8243550C>A	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.181C>A	17.37:g.8243550C>A	ENSP00000331086:p.Arg61Ser						p.R61S	NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN			1	363	+			61					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.181C>A	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601066	0.46423	.	.	ENSG00000184650	ENST00000328248	T	0.27890	1.64	4.34	1.26	0.21427	.	0.790513	0.11133	N	0.596122	T	0.34571	0.0902	L	0.48642	1.525	0.09310	N	1	D	0.59767	0.986	P	0.52881	0.712	T	0.15492	-1.0435	10	0.72032	D	0.01	-3.2119	6.0197	0.19623	0.0:0.6743:0.0:0.3257	.	61	Q2M2E3	ODFP4_HUMAN	S	61	ENSP00000331086:R61S	ENSP00000331086:R61S	R	+	1	0	ODF4	8184275	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.276000	0.18716	0.581000	0.29539	0.655000	0.94253	CGC		PASS	0.592	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1			12	22	12	22	---	---	---	---
PIK3R5	23533	broad.mit.edu	37	17	8784233	8784233	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:8784233C>A	ENST00000447110.1	-	18	2608	c.2484G>T	c.(2482-2484)caG>caT	p.Q828H	PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q827H|PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q828H	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	828					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.Q828H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGACTACACTCTGCAGGATCT	0.577																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2482-2484)CAG>CAT		phosphoinositide-3-kinase, regulatory subunit 5							94.0	89.0	91.0					17																	8784233		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8784233C>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2484G>T	17.37:g.8784233C>A	ENSP00000392812:p.Gln828His					PIK3R5_uc010vuz.1_Missense_Mutation_p.Q828H|PIK3R5_uc002glu.3_Missense_Mutation_p.Q442H	p.Q828H	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			18	2551	-			828					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.2484G>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.587960	0.28268	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.79749	-1.3	5.02	4.05	0.47172	.	0.000000	0.85682	D	0.000000	D	0.83036	0.5167	L	0.32530	0.975	0.53005	D	0.999966	D	0.89917	1.0	D	0.91635	0.999	D	0.83641	0.0150	10	0.72032	D	0.01	-26.1241	10.6824	0.45821	0.0:0.841:0.0:0.159	.	828	Q8WYR1	PI3R5_HUMAN	H	828	ENSP00000392812:Q828H	ENSP00000269300:Q828H	Q	-	3	2	PIK3R5	8724958	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.778000	0.47726	1.100000	0.41517	0.561000	0.74099	CAG		PASS	0.577	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		21	20	21	20	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10298521	10298521	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:10298521G>T	ENST00000403437.2	-	34	4985	c.4891C>A	c.(4891-4893)Cag>Aag	p.Q1631K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1631					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.Q1631K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGTTCAGCTGGATTTCCATT	0.468									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(4891-4893)CAG>AAG		myosin, heavy chain 8, skeletal muscle,							301.0	271.0	282.0					17																	10298521		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298521G>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4891C>A	17.37:g.10298521G>T	ENSP00000384330:p.Gln1631Lys					uc002gml.1_Intron	p.Q1631K	NM_002472	NP_002463	P13535	MYH8_HUMAN			34	4986	-			1631			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4891C>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951948	0.92660	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77620	-1.11	4.85	4.85	0.62838	Myosin tail (1);	0.000000	0.39615	U	0.001319	D	0.85741	0.5767	M	0.90198	3.095	0.58432	D	0.999996	P	0.42203	0.773	P	0.45913	0.497	D	0.89105	0.3492	10	0.72032	D	0.01	.	18.1679	0.89734	0.0:0.0:1.0:0.0	.	1631	P13535	MYH8_HUMAN	K	1631	ENSP00000384330:Q1631K	ENSP00000252173:Q1631K	Q	-	1	0	MYH8	10239246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.589000	0.98235	2.521000	0.84997	0.650000	0.86243	CAG		PASS	0.468	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		31	71	31	71	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10302972	10302972	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:10302972C>A	ENST00000403437.2	-	28	3844	c.3750G>T	c.(3748-3750)aaG>aaT	p.K1250N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1250					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.K1250N(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCGGCACATCTTTTCAAGGT	0.418									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(3748-3750)AAG>AAT		myosin, heavy chain 8, skeletal muscle,							116.0	103.0	108.0					17																	10302972		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10302972C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3750G>T	17.37:g.10302972C>A	ENSP00000384330:p.Lys1250Asn					uc002gml.1_Intron	p.K1250N	NM_002472	NP_002463	P13535	MYH8_HUMAN			28	3845	-			1250			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3750G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153910	0.57259	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82893	-1.66	5.38	1.15	0.20763	Myosin tail (1);	0.000000	0.43579	U	0.000558	D	0.91533	0.7326	M	0.93550	3.43	0.41522	D	0.988404	D	0.63046	0.992	D	0.70227	0.968	D	0.91268	0.5042	10	0.87932	D	0	.	10.0003	0.41924	0.0:0.6622:0.0:0.3378	.	1250	P13535	MYH8_HUMAN	N	1250	ENSP00000384330:K1250N	ENSP00000252173:K1250N	K	-	3	2	MYH8	10243697	0.886000	0.30341	1.000000	0.80357	0.718000	0.41266	0.031000	0.13710	0.422000	0.26005	-0.136000	0.14681	AAG		PASS	0.418	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		8	31	8	31	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10356530	10356530	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:10356530T>A	ENST00000255381.2	-	24	3160	c.3050A>T	c.(3049-3051)gAg>gTg	p.E1017V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1017					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.E1017V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTGTCCTCCTCCATCTGCAG	0.488																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3049-3051)GAG>GTG		myosin, heavy polypeptide 4, skeletal muscle							301.0	275.0	284.0					17																	10356530		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356530T>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3050A>T	17.37:g.10356530T>A	ENSP00000255381:p.Glu1017Val					uc002gml.1_Intron	p.E1017V	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			24	3161	-			1017			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.3050A>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082048	0.76528	.	.	ENSG00000141048	ENST00000255381	D	0.91237	-2.81	5.28	5.28	0.74379	.	0.000000	0.37669	U	0.001993	D	0.96796	0.8954	H	0.95950	3.745	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.98107	1.0418	10	0.87932	D	0	.	15.5054	0.75735	0.0:0.0:0.0:1.0	.	1017	Q9Y623	MYH4_HUMAN	V	1017	ENSP00000255381:E1017V	ENSP00000255381:E1017V	E	-	2	0	MYH4	10297255	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.892000	0.87324	2.116000	0.64780	0.533000	0.62120	GAG		PASS	0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		26	122	26	122	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10398576	10398576	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:10398576C>T	ENST00000226207.5	-	36	5322	c.5228G>A	c.(5227-5229)gGa>gAa	p.G1743E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1743					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G1743E(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCCATCTCTCCCTGGATTTG	0.453																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5227-5229)GGA>GAA		myosin, heavy chain 1, skeletal muscle, adult							242.0	206.0	218.0					17																	10398576		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10398576C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5228G>A	17.37:g.10398576C>T	ENSP00000226207:p.Gly1743Glu					uc002gml.1_Intron	p.G1743E	NM_005963	NP_005954	P12882	MYH1_HUMAN			36	5322	-			1743			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5228G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802269	0.50315	.	.	ENSG00000109061	ENST00000226207	T	0.74947	-0.89	5.28	5.28	0.74379	Myosin tail (1);	0.162590	0.28700	U	0.014422	T	0.71728	0.3374	L	0.37630	1.12	0.29866	N	0.82723	B	0.20368	0.044	B	0.32289	0.143	T	0.68561	-0.5376	10	0.52906	T	0.07	.	19.2728	0.94018	0.0:1.0:0.0:0.0	.	1743	P12882	MYH1_HUMAN	E	1743	ENSP00000226207:G1743E	ENSP00000226207:G1743E	G	-	2	0	MYH1	10339301	0.266000	0.24112	1.000000	0.80357	0.998000	0.95712	0.495000	0.22483	2.618000	0.88619	0.561000	0.74099	GGA		PASS	0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		30	57	30	57	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10404776	10404776	+	Missense_Mutation	SNP	C	C	G	rs199524427		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:10404776C>G	ENST00000226207.5	-	27	3483	c.3389G>C	c.(3388-3390)cGg>cCg	p.R1130P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1130					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1130P(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCGGGAGGCCCGCTCTGCCTC	0.567																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(3388-3390)CGG>CCG		myosin, heavy chain 1, skeletal muscle, adult							37.0	42.0	41.0					17																	10404776		2203	4296	6499	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404776C>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3389G>C	17.37:g.10404776C>G	ENSP00000226207:p.Arg1130Pro					uc002gml.1_Intron	p.R1130P	NM_005963	NP_005954	P12882	MYH1_HUMAN			27	3483	-			1130			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3389G>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812714	0.90707	.	.	ENSG00000109061	ENST00000226207	D	0.83837	-1.77	5.3	5.3	0.74995	Myosin tail (1);	0.000000	0.39475	U	0.001347	D	0.94971	0.8373	H	0.98089	4.145	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.96641	0.9474	10	0.87932	D	0	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	1130	P12882	MYH1_HUMAN	P	1130	ENSP00000226207:R1130P	ENSP00000226207:R1130P	R	-	2	0	MYH1	10345501	0.966000	0.33281	1.000000	0.80357	0.997000	0.91878	6.010000	0.70753	2.641000	0.89580	0.650000	0.86243	CGG		PASS	0.567	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		19	8	19	8	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10432232	10432232	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:10432232C>A	ENST00000245503.5	-	27	3903	c.3519G>T	c.(3517-3519)cgG>cgT	p.R1173R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.R1173R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1173					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1173R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACTCAGCCTCCCGCTTCTTGT	0.602																																						uc010coi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3517-3519)CGG>CGT		myosin heavy chain IIa							71.0	79.0	76.0					17																	10432232		2203	4297	6500	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432232C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3519G>T	17.37:g.10432232C>A						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.R1173R|MYH2_uc010coj.2_Intron	p.R1173R	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			27	3647	-			1173			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.3519G>T	CCDS11156.1																																																																																				PASS	0.602	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		7	78	7	78	---	---	---	---
TMEM220	388335	broad.mit.edu	37	17	10628381	10628381	+	Silent	SNP	C	C	A	rs200144019		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:10628381C>A	ENST00000341871.3	-	4	698	c.234G>T	c.(232-234)gcG>gcT	p.A78A	TMEM220_ENST00000578345.1_Silent_p.A68A|TMEM220_ENST00000455996.2_Silent_p.A68A|TMEM220_ENST00000580186.1_5'UTR	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	78						integral component of membrane (GO:0016021)		p.A78A(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						AGAGGTAGGACGCCAAGCCAA	0.443																																						uc002gmx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(232-234)GCG>GCT		transmembrane protein 220							196.0	171.0	179.0					17																	10628381		2203	4300	6503	SO:0001819	synonymous_variant	388335					integral to membrane		g.chr17:10628381C>A		CCDS32567.1	17p13.1	2008-08-08			ENSG00000187824	ENSG00000187824			33757	protein-coding gene	gene with protein product							Standard	NM_001004313		Approved		uc002gmx.3	Q6QAJ8		ENST00000341871.3:c.234G>T	17.37:g.10628381C>A						TMEM220_uc002gmy.2_Silent_p.A68A	p.A78A	NM_001004313	NP_001004313	Q6QAJ8	TM220_HUMAN			4	712	-			78			Helical; (Potential).		A1YRJ4|B2RNE4|B4DJ52|B9EGW3	Silent	SNP	ENST00000341871.3	37	c.234G>T	CCDS32567.1																																																																																				PASS	0.443	TMEM220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440333.1	NM_001004313		9	38	9	38	---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16323463	16323463	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:16323463C>A	ENST00000338560.7	+	3	634	c.235C>A	c.(235-237)Ctc>Atc	p.L79I	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	79	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.L79I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCGAGATCGGCTCTTCAATGC	0.572																																						uc002gpy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(235-237)CTC>ATC		transient receptor potential cation channel,							88.0	81.0	83.0					17																	16323463		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16323463C>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.235C>A	17.37:g.16323463C>A	ENSP00000342222:p.Leu79Ile					TRPV2_uc002gpz.2_5'UTR	p.L79I	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	3	602	+			79			Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 1.		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.235C>A	CCDS32576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.553684|2.553684	0.45487|0.45487	.|.	.|.	ENSG00000187688|ENSG00000187688	ENST00000455666|ENST00000338560	.|D	.|0.88509	.|-2.39	5.41|5.41	4.4|4.4	0.53042|0.53042	.|Ankyrin repeat-containing domain (1);	.|0.064020	.|0.64402	.|D	.|0.000007	D|D	0.86936|0.86936	0.6053|0.6053	L|L	0.33093|0.33093	0.98|0.98	0.80722|0.80722	D|D	1|1	.|B	.|0.32031	.|0.352	.|P	.|0.47705	.|0.555	T|T	0.79852|0.79852	-0.1628|-0.1628	5|10	.|0.09084	.|T	.|0.74	-34.0717|-34.0717	12.6617|12.6617	0.56817|0.56817	0.164:0.836:0.0:0.0|0.164:0.836:0.0:0.0	.|.	.|79	.|Q9Y5S1	.|TRPV2_HUMAN	D|I	36|79	.|ENSP00000342222:L79I	.|ENSP00000342222:L79I	A|L	+|+	2|1	0|0	TRPV2|TRPV2	16264188|16264188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	3.858000|3.858000	0.55979|0.55979	2.535000|2.535000	0.85469|0.85469	0.655000|0.655000	0.94253|0.94253	GCT|CTC		PASS	0.572	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		30	55	30	55	---	---	---	---
MAP2K3	5606	broad.mit.edu	37	17	21203906	21203906	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:21203906G>T	ENST00000342679.4	+	4	464	c.215G>T	c.(214-216)cGt>cTt	p.R72L	MAP2K3_ENST00000316920.6_Missense_Mutation_p.R43L|MAP2K3_ENST00000361818.5_Missense_Mutation_p.R43L	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R76L(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GAACTGGGCCGTGGAGCCTAT	0.602																																						uc002gys.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)CGT>CTT		mitogen-activated protein kinase kinase 3							59.0	54.0	56.0					17																	21203906		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21203906G>T	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.215G>T	17.37:g.21203906G>T	ENSP00000345083:p.Arg72Leu					MAP2K3_uc002gyt.2_Missense_Mutation_p.R43L|MAP2K3_uc002gyu.2_Missense_Mutation_p.R43L	p.R72L	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	4	480	+			72			ATP (By similarity).|Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.215G>T	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229887	0.58777	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	T;T;T	0.66815	-0.23;-0.23;-0.23	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	D	0.85004	0.5598	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87285	0.2295	10	0.87932	D	0	-11.4475	19.3291	0.94278	0.0:0.0:1.0:0.0	.	72	P46734	MP2K3_HUMAN	L	72;43;43;43;76	ENSP00000345083:R72L;ENSP00000355081:R43L;ENSP00000434068:R43L	ENSP00000319139:R76L	R	+	2	0	MAP2K3	21144499	1.000000	0.71417	0.875000	0.34327	0.746000	0.42486	9.698000	0.98700	2.582000	0.87167	0.655000	0.94253	CGT		PASS	0.602	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		4	12	4	12	---	---	---	---
SEZ6	124925	broad.mit.edu	37	17	27306729	27306729	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:27306729G>A	ENST00000317338.12	-	3	1255	c.827C>T	c.(826-828)tCt>tTt	p.S276F	SEZ6_ENST00000335960.6_Missense_Mutation_p.S276F|SEZ6_ENST00000442608.3_Missense_Mutation_p.S276F|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.S276F			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	276					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.S276F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGGGTAGACAGAGATGTAGAA	0.547																																						uc002hdp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(826-828)TCT>TTT		seizure related 6 homolog isoform 1							61.0	64.0	63.0					17																	27306729		2006	4178	6184	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27306729G>A	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.827C>T	17.37:g.27306729G>A	ENSP00000312942:p.Ser276Phe					SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.S276F|SEZ6_uc002hdq.1_Missense_Mutation_p.S151F|SEZ6_uc010crz.1_Missense_Mutation_p.S276F	p.S276F	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		3	1021	-	Lung NSC(42;0.0137)		276			Extracellular (Potential).		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.827C>T	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683944	0.68157	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T	0.52526	0.66;0.66;0.66	5.26	5.26	0.73747	CUB (2);	0.276947	0.29100	N	0.013143	T	0.60287	0.2257	M	0.65498	2.005	0.28954	N	0.890231	P;P;P	0.45212	0.676;0.853;0.712	P;P;B	0.55455	0.776;0.628;0.429	T	0.60752	-0.7201	10	0.66056	D	0.02	.	11.4587	0.50197	0.0:0.0:0.8201:0.1799	.	276;276;276	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	F	276;276;151;276;276	ENSP00000403784:S276F;ENSP00000353440:S276F;ENSP00000337407:S276F	ENSP00000312942:S151F	S	-	2	0	SEZ6	24330855	1.000000	0.71417	0.978000	0.43139	0.949000	0.60115	5.631000	0.67812	2.469000	0.83416	0.563000	0.77884	TCT		PASS	0.547	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			28	13	28	13	---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27869857	27869857	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:27869857C>T	ENST00000261716.3	+	20	3342	c.2823C>T	c.(2821-2823)ccC>ccT	p.P941P	TAOK1_ENST00000536202.1_Silent_p.P793P	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	941					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.P941P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AAGGTGGACCCCAGCCATGGG	0.622																																						uc002hdz.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2821-2823)CCC>CCT		TAO kinase 1							34.0	34.0	34.0					17																	27869857		2203	4300	6503	SO:0001819	synonymous_variant	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27869857C>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2823C>T	17.37:g.27869857C>T						TAOK1_uc010wbe.1_Silent_p.P793P|TAOK1_uc010wbf.1_Silent_p.P941P	p.P941P	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		20	3017	+			941					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	ENST00000261716.3	37	c.2823C>T	CCDS32601.1																																																																																				PASS	0.622	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		5	24	5	24	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29684054	29684054	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:29684054G>T	ENST00000358273.4	+	53	8198	c.7815G>T	c.(7813-7815)ttG>ttT	p.L2605F	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.L398F|NF1_ENST00000356175.3_Missense_Mutation_p.L2584F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2605					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.L2605F(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGTTCTCTTGGATGAAGAAG	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(7813-7815)TTG>TTT		neurofibromin isoform 1							189.0	180.0	183.0					17																	29684054		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29684054G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7815G>T	17.37:g.29684054G>T	ENSP00000351015:p.Leu2605Phe	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.L2584F|NF1_uc010cso.2_Missense_Mutation_p.L793F|NF1_uc010wbt.1_Missense_Mutation_p.L83F|NF1_uc010wbu.1_RNA	p.L2605F	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	53	8148	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2605					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7815G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584318	0.65992	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.66280	2.11;2.25;1.94;-0.2	5.87	2.6	0.31112	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.72479	0.3465	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.87578	0.997;0.991;0.998	T	0.70004	-0.4991	10	0.44086	T	0.13	.	6.5998	0.22695	0.1405:0.0:0.625:0.2345	.	398;2584;2605	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	F	2605;2584;2250;398	ENSP00000351015:L2605F;ENSP00000348498:L2584F;ENSP00000389907:L2250F;ENSP00000396481:L398F	ENSP00000348498:L2584F	L	+	3	2	NF1	26708180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.377000	0.34317	0.906000	0.36621	0.655000	0.94253	TTG		PASS	0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		18	84	18	84	---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33738500	33738500	+	Nonsense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:33738500T>A	ENST00000394562.1	-	6	2117	c.1594A>T	c.(1594-1596)Aaa>Taa	p.K532*	SLFN12_ENST00000460530.1_5'UTR|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000304905.5_Nonsense_Mutation_p.K532*|SLFN12_ENST00000452764.3_Nonsense_Mutation_p.K532*			Q8IYM2	SLN12_HUMAN	schlafen family member 12	532							ATP binding (GO:0005524)	p.K532*(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAAGGGCTTTCAGCAAGTAT	0.388																																						uc002hji.3																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1594-1596)AAA>TAA		schlafen family member 12							58.0	59.0	58.0					17																	33738500		2203	4299	6502	SO:0001587	stop_gained	55106						ATP binding	g.chr17:33738500T>A	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1594A>T	17.37:g.33738500T>A	ENSP00000378063:p.Lys532*					SLFN12_uc002hjj.3_Nonsense_Mutation_p.K532*|SLFN12_uc010cts.2_Nonsense_Mutation_p.K532*	p.K532*	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1971	-		Ovarian(249;0.17)	532					A8K711|Q9NP47	Nonsense_Mutation	SNP	ENST00000394562.1	37	c.1594A>T	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608072	0.87258	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	.	.	.	2.74	-4.13	0.03904	.	.	.	.	.	.	.	.	.	.	.	0.47407	D	0.999413	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	5.6468	0.17594	0.0:0.1347:0.5731:0.2922	.	.	.	.	X	532	.	ENSP00000302077:K532X	K	-	1	0	SLFN12	30762613	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.791000	0.00098	-0.568000	0.06038	-0.419000	0.06015	AAA		PASS	0.388	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		30	24	30	24	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34072205	34072206	+	Missense_Mutation	DNP	TG	TG	AC	rs267604813		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:34072205_34072206TG>AC	ENST00000254466.6	-	6	2337_2338	c.2310_2311CA>GT	c.(2308-2313)tcCAtc>tcGTtc	p.I771F	GAS2L2_ENST00000587565.1_Missense_Mutation_p.I755F	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	771					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)	p.I771F(2)|p.S770S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCTTGTAGATGGACGGGACCC	0.604																																						uc002hjv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(2311-2313)ATC>TTC|c.(2308-2310)TCC>TCG		growth arrest-specific 2 like 2																																				SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072205T>A|g.chr17:34072206G>C	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2310_2311delinsAC	17.37:g.34072205_34072206delinsAC	ENSP00000254466:p.Ile771Phe						p.I771F|p.S770S	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2339|2338	-		Ovarian(249;0.17)	771|770					Q8NHY4	Missense_Mutation|Silent	SNP	ENST00000254466.6	37	c.2311A>T|c.2310C>G	CCDS11298.1																																																																																				PASS	0.604	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		34	95|92	34	92	---	---	---	---
TNS4	84951	broad.mit.edu	37	17	38638626	38638626	+	Missense_Mutation	SNP	G	G	C	rs142919679	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:38638626G>C	ENST00000254051.6	-	7	1702	c.1544C>G	c.(1543-1545)tCg>tGg	p.S515W		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	515	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.S515W(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TTTGGCAGACGACTCGATGAG	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19418	0.0		0.0	False		,,,				2504	0.002					uc010cxb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1543-1545)TCG>TGG		tensin 4 precursor							101.0	93.0	96.0					17																	38638626		2203	4300	6503	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38638626G>C	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1544C>G	17.37:g.38638626G>C	ENSP00000254051:p.Ser515Trp					TNS4_uc002huu.3_5'Flank	p.S515W	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		7	1708	-		Breast(137;0.000496)	515			SH2.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.1544C>G	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262427	0.80358	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	D	0.89939	-2.59	5.47	5.47	0.80525	SH2 motif (4);	0.224065	0.32608	N	0.005862	D	0.93595	0.7955	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93631	0.6956	10	0.66056	D	0.02	-16.5671	19.312	0.94192	0.0:0.0:1.0:0.0	.	515	Q8IZW8	TENS4_HUMAN	W	515	ENSP00000254051:S515W	ENSP00000254051:S515W	S	-	2	0	TNS4	35892152	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.165000	0.64959	2.724000	0.93272	0.561000	0.74099	TCG		PASS	0.582	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		6	61	6	61	---	---	---	---
KRT39	390792	broad.mit.edu	37	17	39116541	39116541	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:39116541C>T	ENST00000355612.2	-	6	1244	c.1209G>A	c.(1207-1209)tcG>tcA	p.S403S	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	403	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S403S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ACTTGCCATCCGAGCTCTCCA	0.468																																						uc002hvo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1207-1209)TCG>TCA		type I hair keratin KA35							103.0	93.0	96.0					17																	39116541		2203	4296	6499	SO:0001819	synonymous_variant	390792					intermediate filament	structural molecule activity	g.chr17:39116541C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1209G>A	17.37:g.39116541C>T						KRT39_uc010wfm.1_Silent_p.S136S	p.S403S	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			6	1245	-		Breast(137;0.00043)|Ovarian(249;0.15)	403			Coil 2.|Rod.		B2RXK6|Q6IFU6	Silent	SNP	ENST00000355612.2	37	c.1209G>A	CCDS11382.1																																																																																				PASS	0.468	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		15	55	15	55	---	---	---	---
KRT40	125115	broad.mit.edu	37	17	39140113	39140113	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:39140113C>G	ENST00000398486.2	-	3	573	c.413G>C	c.(412-414)cGt>cCt	p.R138P	KRT40_ENST00000377755.4_Missense_Mutation_p.R138P	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	138	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R138P(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTGAAGTAACGCTGATAATC	0.483																																						uc010cxh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)CGT>CCT		type I hair keratin KA36							182.0	176.0	178.0					17																	39140113		2159	4271	6430	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39140113C>G	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.413G>C	17.37:g.39140113C>G	ENSP00000381500:p.Arg138Pro					KRT40_uc002hvq.1_RNA	p.R138P	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			3	574	-		Breast(137;0.00043)	138			Rod.|Coil 1B.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.413G>C	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	3.561	-0.089744	0.07053	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.88509	-2.39;-2.39	5.3	3.32	0.38043	Filament (1);	0.844176	0.09752	N	0.760421	T	0.77491	0.4138	N	0.12853	0.265	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.62656	-0.6808	10	0.23891	T	0.37	.	6.7152	0.23300	0.0:0.6501:0.1295:0.2204	.	138	Q6A162	K1C40_HUMAN	P	138	ENSP00000366984:R138P;ENSP00000381500:R138P	ENSP00000366984:R138P	R	-	2	0	KRT40	36393639	0.000000	0.05858	0.925000	0.36789	0.005000	0.04900	0.408000	0.21065	0.745000	0.32763	-0.952000	0.02654	CGT		PASS	0.483	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		85	48	85	48	---	---	---	---
KRT36	8689	broad.mit.edu	37	17	39642717	39642717	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:39642717C>A	ENST00000328119.6	-	7	1314	c.1315G>T	c.(1315-1317)Gtt>Ttt	p.V439F	KRT36_ENST00000393986.2_Missense_Mutation_p.V389F	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	439	Tail.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)	p.V439F(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGAGTGCCAACCTGGGGAGCC	0.622																																						uc002hwt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1315-1317)GTT>TTT		keratin 36							47.0	41.0	43.0					17																	39642717		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39642717C>A	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.1315G>T	17.37:g.39642717C>A	ENSP00000329165:p.Val439Phe						p.V439F	NM_003771	NP_003762	O76013	KRT36_HUMAN			7	1315	-		Breast(137;0.000286)	439			Tail.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.1315G>T	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847216	0.32606	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;T	0.82433	-1.61;-1.48	5.93	-6.56	0.01848	.	0.681987	0.12623	N	0.452846	T	0.54498	0.1862	N	0.08118	0	0.24160	N	0.995669	B	0.25955	0.138	B	0.29785	0.107	T	0.56177	-0.8022	10	0.10111	T	0.7	.	2.5132	0.04661	0.0983:0.3173:0.291:0.2934	.	439	O76013	KRT36_HUMAN	F	389;439	ENSP00000377555:V389F;ENSP00000329165:V439F	ENSP00000329165:V439F	V	-	1	0	KRT36	36896243	0.138000	0.22547	0.023000	0.16930	0.005000	0.04900	-1.285000	0.02791	-1.009000	0.03400	-0.304000	0.09214	GTT		PASS	0.622	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		10	26	10	26	---	---	---	---
PTRF	284119	broad.mit.edu	37	17	40556972	40556972	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:40556972C>A	ENST00000357037.5	-	2	1325	c.906G>T	c.(904-906)acG>acT	p.T302T		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.T302T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGTGGTCGGGCGTGAAGGATT	0.642																																						uc002hzo.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(904-906)ACG>ACT		polymerase I and transcript release factor							111.0	95.0	101.0					17																	40556972		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40556972C>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.906G>T	17.37:g.40556972C>A						PTRF_uc010wgi.1_Silent_p.T284T	p.T302T	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1065	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	302						Silent	SNP	ENST00000357037.5	37	c.906G>T	CCDS11425.1																																																																																				PASS	0.642	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		12	52	12	52	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41244070	41244070	+	Nonsense_Mutation	SNP	T	T	A	rs80357781|rs273899707		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:41244070T>A	ENST00000357654.3	-	10	3596	c.3478A>T	c.(3478-3480)Aag>Tag	p.K1160*	BRCA1_ENST00000346315.3_Nonsense_Mutation_p.K1160*|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.K1113*|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.K1160*|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000309486.4_Nonsense_Mutation_p.K864*|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.K1160*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1160					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K1160*(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTATCTTCCTTTATTTCACCA	0.398			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Nonsense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(3478-3480)AAG>TAG	Homologous_recombination	breast cancer 1, early onset isoform 1							123.0	118.0	120.0					17																	41244070		2203	4300	6503	SO:0001587	stop_gained	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244070T>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3478A>T	17.37:g.41244070T>A	ENSP00000350283:p.Lys1160*	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Nonsense_Mutation_p.K1089*|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Nonsense_Mutation_p.K1113*|BRCA1_uc002ict.2_Nonsense_Mutation_p.K1160*|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Nonsense_Mutation_p.K1160*|BRCA1_uc002ide.1_Nonsense_Mutation_p.K991*|BRCA1_uc010cyy.1_Nonsense_Mutation_p.K1160*|BRCA1_uc010whs.1_Nonsense_Mutation_p.K1160*|BRCA1_uc010cyz.2_Nonsense_Mutation_p.K1113*|BRCA1_uc010cza.2_Nonsense_Mutation_p.K1134*|BRCA1_uc010wht.1_Nonsense_Mutation_p.K864*	p.K1160*	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	3710	-		Breast(137;0.000717)	1160					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	c.3478A>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	40	8.363652	0.98779	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	.	.	.	5.09	3.99	0.46301	.	0.338031	0.25366	N	0.031193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7425	0.18102	0.0:0.0934:0.1802:0.7264	.	.	.	.	X	1160;1160;1160;1160;864;1160;1113	.	ENSP00000310938:K864X	K	-	1	0	BRCA1	38497596	0.046000	0.20272	0.929000	0.37066	0.603000	0.37013	1.372000	0.34261	0.944000	0.37579	0.533000	0.62120	AAG		PASS	0.398	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		10	84	10	84	---	---	---	---
NBR1	4077	broad.mit.edu	37	17	41341074	41341074	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:41341074C>G	ENST00000422280.1	+	7	877	c.418C>G	c.(418-420)Cca>Gca	p.P140A	NBR1_ENST00000589872.1_Missense_Mutation_p.P140A|NBR1_ENST00000542611.1_Missense_Mutation_p.P119A|NBR1_ENST00000389312.4_Missense_Mutation_p.P140A|NBR1_ENST00000590996.1_Missense_Mutation_p.P140A|NBR1_ENST00000341165.6_Missense_Mutation_p.P140A	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	140					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.P140A(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TCCACTTGTTCCATGTGACAC	0.448																																						uc010czd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(418-420)CCA>GCA		neighbor of BRCA1 gene 1							103.0	104.0	104.0					17																	41341074		1878	4117	5995	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41341074C>G	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.418C>G	17.37:g.41341074C>G	ENSP00000411250:p.Pro140Ala					NBR1_uc010diz.2_Missense_Mutation_p.P140A|NBR1_uc010whu.1_Missense_Mutation_p.P140A|NBR1_uc010whv.1_Missense_Mutation_p.P140A|NBR1_uc010whw.1_Missense_Mutation_p.P119A|NBR1_uc010whx.1_5'Flank	p.P140A	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	7	558	+		Breast(137;0.00086)	140					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.418C>G	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	0.945	-0.708401	0.03230	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.42513	1.57;0.97;1.57;1.56	5.12	0.871	0.19107	.	0.370005	0.31145	N	0.008177	T	0.31009	0.0783	M	0.64997	1.995	0.09310	N	1	B;B;B	0.25563	0.129;0.035;0.055	B;B;B	0.20384	0.02;0.029;0.02	T	0.23048	-1.0199	10	0.45353	T	0.12	-7.2094	1.571	0.02615	0.2912:0.4068:0.1415:0.1606	.	119;140;140	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	A	140;119;140;140;140	ENSP00000411250:P140A;ENSP00000437545:P119A;ENSP00000343479:P140A;ENSP00000373963:P140A	ENSP00000343479:P140A	P	+	1	0	NBR1	38594600	0.005000	0.15991	0.004000	0.12327	0.038000	0.13279	0.502000	0.22594	0.062000	0.16340	-0.974000	0.02594	CCA		PASS	0.448	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		5	67	5	67	---	---	---	---
HOXB3	3213	broad.mit.edu	37	17	46628422	46628422	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:46628422C>A	ENST00000470495.1	-	2	2017	c.570G>T	c.(568-570)cgG>cgT	p.R190R	HOXB3_ENST00000476342.1_Silent_p.R190R|HOXB3_ENST00000472863.1_Silent_p.R117R|HOXB3_ENST00000498678.1_Silent_p.R190R|HOXB3_ENST00000460160.1_Silent_p.R58R|HOXB3_ENST00000485909.2_Silent_p.R58R|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Silent_p.R56R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Silent_p.R117R|HOXB3_ENST00000311626.4_Silent_p.R190R			P14651	HXB3_HUMAN	homeobox B3	190					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R190R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCGTCCGCGCCCGCTTGGACG	0.741																																						uc002inn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(568-570)CGG>CGT		homeobox B3							39.0	42.0	41.0					17																	46628422		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628422C>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.570G>T	17.37:g.46628422C>A						HOXB3_uc010wlm.1_Silent_p.R117R|HOXB3_uc010dbf.2_Silent_p.R190R|HOXB3_uc010dbg.2_Silent_p.R190R|HOXB3_uc002ino.2_Silent_p.R190R|HOXB3_uc010wlk.1_Silent_p.R58R|HOXB3_uc010wll.1_Silent_p.R117R	p.R190R	NM_002146	NP_002137	P14651	HXB3_HUMAN			2	970	-			190			Homeobox.		A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.570G>T	CCDS11528.1																																																																																				PASS	0.741	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			11	34	11	34	---	---	---	---
HOXB6	3216	broad.mit.edu	37	17	46673923	46673923	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:46673923C>A	ENST00000484302.2	-	3	1149	c.527G>T	c.(526-528)cGc>cTc	p.R176L	HOXB6_ENST00000490419.1_5'Flank|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB5_ENST00000239151.5_5'Flank|HOXB-AS3_ENST00000477144.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.R176L|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA			P17509	HXB6_HUMAN	homeobox B6	176					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R176L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GATCTCGATGCGCCGCCGCCG	0.607																																						uc002ins.1																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CGC>CTC		homeobox B6							137.0	126.0	130.0					17																	46673923		2203	4300	6503	SO:0001583	missense	3216				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46673923C>A		CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"""Homeoboxes / ANTP class : HOXL subclass"""	5117	protein-coding gene	gene with protein product		142961	"""homeo box B6"""	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.527G>T	17.37:g.46673923C>A	ENSP00000420009:p.Arg176Leu					HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Missense_Mutation_p.R176L|HOXB6_uc002int.1_3'UTR	p.R176L	NM_018952	NP_061825	P17509	HXB6_HUMAN			4	852	-			176			Homeobox.		A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Missense_Mutation	SNP	ENST00000484302.2	37	c.527G>T	CCDS11531.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800939	0.90538	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	D;D	0.97232	-4.3;-4.3	4.84	3.85	0.44370	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	H	0.94771	3.58	0.80722	D	1	B	0.31256	0.316	P	0.48454	0.578	D	0.99904	1.1173	10	0.87932	D	0	.	14.0041	0.64451	0.1528:0.8472:0.0:0.0	.	176	P17509	HXB6_HUMAN	L	176	ENSP00000420009:R176L;ENSP00000225648:R176L	ENSP00000225648:R176L	R	-	2	0	HOXB6	44028922	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.835000	0.69368	1.224000	0.43551	0.563000	0.77884	CGC		PASS	0.607	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358146.2			45	27	45	27	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51900869	51900869	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:51900869C>A	ENST00000268919.4	+	1	631	c.475C>A	c.(475-477)Cag>Aag	p.Q159K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	159					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q159K(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTGCAGGAGCAGCGGGAAAA	0.557																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(475-477)CAG>AAG		kinesin family member 2B							54.0	59.0	57.0					17																	51900869		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900869C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.475C>A	17.37:g.51900869C>A	ENSP00000268919:p.Gln159Lys					uc010wna.1_RNA	p.Q159K	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	631	+			159			Potential.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.475C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	0.094	-1.161819	0.01673	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.71461	-0.57	5.52	5.52	0.82312	.	0.136360	0.33477	N	0.004879	T	0.49167	0.1541	N	0.16201	0.385	0.32466	N	0.543424	B	0.16166	0.016	B	0.14023	0.01	T	0.45804	-0.9236	10	0.02654	T	1	.	13.3429	0.60555	0.1579:0.8421:0.0:0.0	.	159	Q8N4N8	KIF2B_HUMAN	K	159;82	ENSP00000268919:Q159K	ENSP00000268919:Q159K	Q	+	1	0	KIF2B	49255868	1.000000	0.71417	0.993000	0.49108	0.144000	0.21451	1.653000	0.37323	2.739000	0.93911	0.655000	0.94253	CAG		PASS	0.557	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		11	23	11	23	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901186	51901186	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:51901186C>A	ENST00000268919.4	+	1	948	c.792C>A	c.(790-792)ttC>ttA	p.F264L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	264	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F264L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCAGACCTTCTGCTTCGACC	0.557																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(790-792)TTC>TTA		kinesin family member 2B							135.0	111.0	119.0					17																	51901186		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901186C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.792C>A	17.37:g.51901186C>A	ENSP00000268919:p.Phe264Leu					uc010wna.1_Intron	p.F264L	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	948	+			264			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.792C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249585	0.59212	.	.	ENSG00000141200	ENST00000268919	T	0.32272	1.46	5.93	-1.32	0.09201	Kinesin, motor domain (4);	0.000000	0.53938	D	0.000047	T	0.62109	0.2401	H	0.96239	3.79	0.32544	N	0.533224	D	0.89917	1.0	D	0.85130	0.997	T	0.71133	-0.4681	10	0.87932	D	0	.	10.4495	0.44513	0.0:0.475:0.0:0.525	.	264	Q8N4N8	KIF2B_HUMAN	L	264	ENSP00000268919:F264L	ENSP00000268919:F264L	F	+	3	2	KIF2B	49256185	0.083000	0.21467	0.880000	0.34516	0.516000	0.34256	-0.488000	0.06497	-0.165000	0.10908	0.655000	0.94253	TTC		PASS	0.557	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		15	19	15	19	---	---	---	---
MSI2	124540	broad.mit.edu	37	17	55693342	55693342	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:55693342G>C	ENST00000284073.2	+	9	758	c.549G>C	c.(547-549)aaG>aaC	p.K183N	RN7SL449P_ENST00000464937.2_RNA|MSI2_ENST00000416426.2_Missense_Mutation_p.K161N|MSI2_ENST00000579180.1_Missense_Mutation_p.K79N|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000322684.3_Missense_Mutation_p.K179N|MSI2_ENST00000442934.2_Missense_Mutation_p.K122N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	183	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.K183N(1)|p.K179N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TAGAATGTAAGAAAGCTCAGC	0.483			T	HOXA9	CML																																	uc002iuz.1				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(547-549)AAG>AAC		musashi 2 isoform a							111.0	106.0	108.0					17																	55693342		2203	4300	6503	SO:0001583	missense	124540					cytoplasm	nucleotide binding|RNA binding	g.chr17:55693342G>C	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.549G>C	17.37:g.55693342G>C	ENSP00000284073:p.Lys183Asn					MSI2_uc010wnm.1_Missense_Mutation_p.K161N|MSI2_uc002iva.2_Missense_Mutation_p.K179N	p.K183N	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	9	722	+	Breast(9;1.78e-08)		183			RRM 2.		Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.549G>C	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323843	0.81580	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.986;0.979;0.987	D	0.93989	0.7265	10	0.87932	D	0	.	19.7748	0.96388	0.0:0.0:1.0:0.0	.	161;179;183	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	N	161;183;179;122	ENSP00000414671:K161N;ENSP00000284073:K183N;ENSP00000313616:K179N;ENSP00000392607:K122N	ENSP00000284073:K183N	K	+	3	2	MSI2	53048341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.682000	0.91365	0.551000	0.68910	AAG		PASS	0.483	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			22	19	22	19	---	---	---	---
MKS1	54903	broad.mit.edu	37	17	56293532	56293532	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:56293532G>A	ENST00000393119.2	-	4	408	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	MKS1_ENST00000537529.2_Silent_p.L102L|MKS1_ENST00000337050.7_Silent_p.L112L|MKS1_ENST00000313863.6_Silent_p.L112L|LPO_ENST00000582328.1_5'Flank|MKS1_ENST00000546108.1_5'UTR	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	112					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.L112L(2)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAGCTTCAGGATCTCCTGA	0.428																																						uc002ivr.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(334-336)CTG>TTG		Meckel syndrome type 1 protein isoform 1							171.0	158.0	162.0					17																	56293532		1869	4100	5969	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56293532G>A	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.334C>T	17.37:g.56293532G>A						MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Silent_p.L112L	p.L112L	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			4	409	-			112					B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	c.334C>T	CCDS11603.2																																																																																				PASS	0.428	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		22	27	22	27	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814365	60814365	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:60814365G>T	ENST00000311269.5	-	6	1138	c.864C>A	c.(862-864)agC>agA	p.S288R	MARCH10_ENST00000583600.1_Missense_Mutation_p.S326R|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.S287R|MARCH10_ENST00000456609.2_Missense_Mutation_p.S288R|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	288					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S288R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAGTGTCATCGCTTTCTCTTC	0.473																																						uc010ddr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)AGC>AGA		ring finger protein 190							232.0	232.0	232.0					17																	60814365		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60814365G>T	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.864C>A	17.37:g.60814365G>T	ENSP00000311496:p.Ser288Arg					MARCH10_uc002jag.3_Missense_Mutation_p.S288R|MARCH10_uc010dds.2_Missense_Mutation_p.S326R|MARCH10_uc002jah.2_Missense_Mutation_p.S287R|uc002jaj.1_RNA|uc002jak.2_RNA	p.S288R	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			6	1102	-			288					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.864C>A	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	6.425	0.446472	0.12223	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.33654	1.4;1.4;1.4	4.98	-1.49	0.08718	.	1.804280	0.02625	N	0.103601	T	0.33206	0.0855	L	0.50333	1.59	0.09310	N	1	P;P;P	0.42620	0.678;0.785;0.678	B;B;B	0.40702	0.182;0.338;0.137	T	0.25117	-1.0141	10	0.59425	D	0.04	0.1075	4.2648	0.10757	0.4697:0.0:0.3722:0.1581	.	287;287;288	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	R	288;288;287	ENSP00000416177:S288R;ENSP00000311496:S288R;ENSP00000443746:S287R	ENSP00000311496:S288R	S	-	3	2	MARCH10	58168097	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.834000	0.04391	-0.568000	0.06038	-1.395000	0.01148	AGC		PASS	0.473	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		75	93	75	93	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62049739	62049739	+	Missense_Mutation	SNP	C	C	A	rs374529559		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:62049739C>A	ENST00000435607.1	-	2	441	c.365G>T	c.(364-366)cGc>cTc	p.R122L	SCN4A_ENST00000578147.1_Missense_Mutation_p.R122L|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	122					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R122L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATGGCCCCGCGCCTGACTAC	0.612																																						uc002jds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(364-366)CGC>CTC		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						62.0	66.0	65.0					17																	62049739		2153	4260	6413	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049739C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.365G>T	17.37:g.62049739C>A	ENSP00000396320:p.Arg122Leu						p.R122L	NM_000334	NP_000325	P35499	SCN4A_HUMAN			2	442	-			122					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.365G>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452456	0.63290	.	.	ENSG00000007314	ENST00000435607	D	0.97114	-4.25	4.23	4.23	0.50019	.	0.190420	0.45606	D	0.000353	D	0.97084	0.9047	M	0.91561	3.22	0.54753	D	0.999986	P	0.41929	0.765	B	0.38683	0.279	D	0.98435	1.0584	10	0.72032	D	0.01	.	15.7671	0.78135	0.0:1.0:0.0:0.0	.	122	P35499	SCN4A_HUMAN	L	122	ENSP00000396320:R122L	ENSP00000396320:R122L	R	-	2	0	SCN4A	59403471	0.998000	0.40836	0.802000	0.32245	0.203000	0.24098	3.890000	0.56220	2.188000	0.69820	0.313000	0.20887	CGC		PASS	0.612	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		13	9	13	9	---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66878019	66878019	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:66878019A>G	ENST00000269080.2	-	29	3948	c.3811T>C	c.(3811-3813)Ttc>Ctc	p.F1271L	ABCA8_ENST00000430352.2_Missense_Mutation_p.F1311L|ABCA8_ENST00000586539.1_Missense_Mutation_p.F1311L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1271	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.F1271L(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTAACACAGAAGGAGACATTT	0.483																																						uc002jhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3811-3813)TTC>CTC		ATP-binding cassette, sub-family A member 8							163.0	150.0	155.0					17																	66878019		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66878019A>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3811T>C	17.37:g.66878019A>G	ENSP00000269080:p.Phe1271Leu					ABCA8_uc002jhq.2_Missense_Mutation_p.F1311L|ABCA8_uc010wqq.1_Missense_Mutation_p.F1306L	p.F1271L	NM_007168	NP_009099	O94911	ABCA8_HUMAN			29	3990	-	Breast(10;4.56e-13)		1271			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.3811T>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134462	0.56828	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.92805	-3.11;-3.11	4.75	4.75	0.60458	ABC transporter-like (1);	0.000000	0.56097	D	0.000031	T	0.76688	0.4022	N	0.02842	-0.48	0.42806	D	0.993946	P;B;B	0.41848	0.763;0.188;0.394	B;B;B	0.36567	0.224;0.101;0.228	T	0.77848	-0.2435	10	0.11182	T	0.66	.	10.0051	0.41953	0.9174:0.0:0.0826:0.0	.	1311;1311;1271	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	L	1271;1311	ENSP00000269080:F1271L;ENSP00000402814:F1311L	ENSP00000269080:F1271L	F	-	1	0	ABCA8	64389614	0.996000	0.38824	1.000000	0.80357	0.975000	0.68041	3.491000	0.53252	2.119000	0.64992	0.460000	0.39030	TTC		PASS	0.483	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		24	30	24	30	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	66982358	66982358	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:66982358C>A	ENST00000340001.4	-	32	4366	c.4155G>T	c.(4153-4155)gtG>gtT	p.V1385V	ABCA9_ENST00000453985.2_Silent_p.V1347V|ABCA9_ENST00000370732.2_Silent_p.V1385V|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1385	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V1385V(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CGGCAGCGTACACCTCCAGGT	0.617																																						uc002jhu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(4153-4155)GTG>GTT		ATP-binding cassette, sub-family A, member 9							149.0	118.0	129.0					17																	66982358		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66982358C>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4155G>T	17.37:g.66982358C>A						ABCA9_uc010dez.2_Silent_p.V1347V	p.V1385V	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			32	4298	-	Breast(10;1.47e-12)		1385			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4155G>T	CCDS11681.1																																																																																				PASS	0.617	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		16	27	16	27	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67029935	67029935	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:67029935A>T	ENST00000340001.4	-	9	1419	c.1208T>A	c.(1207-1209)cTt>cAt	p.L403H	ABCA9_ENST00000453985.2_Missense_Mutation_p.L403H|ABCA9_ENST00000370732.2_Missense_Mutation_p.L403H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	403					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L403H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAACATGAAAAGAGTAGCTAT	0.333																																						uc002jhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1207-1209)CTT>CAT		ATP-binding cassette, sub-family A, member 9							114.0	126.0	122.0					17																	67029935		2203	4297	6500	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67029935A>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1208T>A	17.37:g.67029935A>T	ENSP00000342216:p.Leu403His					ABCA9_uc010dez.2_Missense_Mutation_p.L403H	p.L403H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			9	1351	-	Breast(10;1.47e-12)		403			Helical; (Potential).		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1208T>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	2.153	-0.393973	0.04899	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.91521	-2.7;-2.86	4.53	3.43	0.39272	.	0.782714	0.10743	N	0.639170	D	0.88433	0.6435	M	0.62723	1.935	0.09310	N	0.999998	B;B	0.13145	0.002;0.007	B;B	0.24394	0.008;0.053	T	0.80046	-0.1546	10	0.72032	D	0.01	.	6.5625	0.22493	0.687:0.1595:0.0:0.1535	.	403;403	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	H	403;386;403;398	ENSP00000342216:L403H;ENSP00000359767:L403H	ENSP00000342216:L403H	L	-	2	0	ABCA9	64541530	0.317000	0.24589	0.151000	0.22473	0.027000	0.11550	2.689000	0.46993	0.679000	0.31345	0.491000	0.48974	CTT		PASS	0.333	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		22	30	22	30	---	---	---	---
GPR142	350383	broad.mit.edu	37	17	72368181	72368181	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:72368181G>T	ENST00000335666.4	+	4	879	c.831G>T	c.(829-831)cgG>cgT	p.R277R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	277						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R277R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGACCCGCCGGGCCATTGCTG	0.657																																						uc010wqy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(829-831)CGG>CGT		G protein-coupled receptor 142							64.0	55.0	58.0					17																	72368181		2203	4300	6503	SO:0001819	synonymous_variant	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368181G>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.831G>T	17.37:g.72368181G>T						GPR142_uc010wqx.1_Silent_p.R189R	p.R277R	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	831	+			277			Cytoplasmic (Potential).		A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	c.831G>T	CCDS11698.1																																																																																				PASS	0.657	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		4	9	4	9	---	---	---	---
ENPP7	339221	broad.mit.edu	37	17	77704931	77704931	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:77704931G>C	ENST00000328313.5	+	1	251	c.30G>C	c.(28-30)gtG>gtC	p.V10V		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.V10V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTCACTGTGGCTCTGGCCA	0.657																																						uc002jxa.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(28-30)GTG>GTC		ectonucleotide pyrophosphatase/phosphodiesterase							15.0	17.0	16.0					17																	77704931		2176	4248	6424	SO:0001819	synonymous_variant	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77704931G>C	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.30G>C	17.37:g.77704931G>C							p.V10V	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	50	+			10						Silent	SNP	ENST00000328313.5	37	c.30G>C	CCDS11763.1																																																																																				PASS	0.657	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		7	10	7	10	---	---	---	---
ENPP7	339221	broad.mit.edu	37	17	77711788	77711788	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:77711788G>C	ENST00000328313.5	+	5	1541	c.1320G>C	c.(1318-1320)agG>agC	p.R440S		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.R440S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCAGCAGCAGGCCCCTCCTCG	0.607																																						uc002jxa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1318-1320)AGG>AGC		ectonucleotide pyrophosphatase/phosphodiesterase							92.0	86.0	88.0					17																	77711788		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77711788G>C	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1320G>C	17.37:g.77711788G>C	ENSP00000332656:p.Arg440Ser						p.R440S	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1340	+			440			Helical; (Potential).			Missense_Mutation	SNP	ENST00000328313.5	37	c.1320G>C	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	2.624	-0.287830	0.05605	.	.	ENSG00000182156	ENST00000328313	T	0.73047	-0.71	2.65	1.68	0.24146	.	5.175600	0.00575	N	0.000308	T	0.51517	0.1679	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40308	-0.9570	10	0.21540	T	0.41	.	7.5854	0.27989	0.0:0.2656:0.7344:0.0	.	440	Q6UWV6	ENPP7_HUMAN	S	440	ENSP00000332656:R440S	ENSP00000332656:R440S	R	+	3	2	ENPP7	75326383	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.013000	0.12678	0.693000	0.31634	-0.371000	0.07208	AGG		PASS	0.607	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		21	36	21	36	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78323667	78323667	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:78323667A>G	ENST00000582970.1	+	30	10192	c.10049A>G	c.(10048-10050)cAg>cGg	p.Q3350R	RNF213_ENST00000336301.6_Missense_Mutation_p.Q1423R|RNF213_ENST00000508628.2_Missense_Mutation_p.Q3399R|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3350					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1423R(1)|p.Q3399R(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGTGGCTGCAGCAGTTTGAC	0.557																																						uc002jyh.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(4267-4269)CAG>CGG		ring finger protein 213							89.0	86.0	87.0					17																	78323667		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78323667A>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10049A>G	17.37:g.78323667A>G	ENSP00000464087:p.Gln3350Arg						p.Q1423R	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		5	4491	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.4268A>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773250	0.31411	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T;T	0.17213	2.29;2.32	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	M	0.82517	2.595	0.40809	D	0.983401	D	0.53312	0.959	P	0.49887	0.625	T	0.38714	-0.9648	10	0.62326	D	0.03	.	15.8488	0.78910	1.0:0.0:0.0:0.0	.	1423	Q63HN8	RN213_HUMAN	R	3350;3399;1423	ENSP00000425956:Q3350R;ENSP00000338218:Q1423R	ENSP00000338218:Q1423R	Q	+	2	0	RNF213	75938262	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	8.596000	0.90844	2.142000	0.66516	0.533000	0.62120	CAG		PASS	0.557	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		18	21	18	21	---	---	---	---
SLC25A10	1468	broad.mit.edu	37	17	79686896	79686896	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:79686896C>G	ENST00000350690.5	+	10	827	c.741C>G	c.(739-741)ctC>ctG	p.L247L	SLC25A10_ENST00000571730.1_Silent_p.L402L|SLC25A10_ENST00000545862.1_Silent_p.L204L|SLC25A10_ENST00000331531.5_Silent_p.L256L|SLC25A10_ENST00000541223.1_Silent_p.L402L	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	247					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)	p.L247L(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CAGCGAAGCTCGGGCCTCTGG	0.582																																						uc002kbi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(739-741)CTC>CTG		solute carrier family 25 (mitochondrial carrier;	Succinic acid(DB00139)						138.0	160.0	152.0					17																	79686896		2203	4300	6503	SO:0001819	synonymous_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79686896C>G		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.741C>G	17.37:g.79686896C>G						SLC25A10_uc010wut.1_Silent_p.L402L|SLC25A10_uc010dif.2_Silent_p.L256L|SLC25A10_uc010wuu.1_Silent_p.L201L	p.L247L	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		10	827	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		247			Solcar 3.		Q542Z3|Q96BA1|Q96IP1	Silent	SNP	ENST00000350690.5	37	c.741C>G	CCDS11786.1																																																																																				PASS	0.582	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			47	50	47	50	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8819111	8819111	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:8819111G>A	ENST00000306329.11	+	11	3967	c.3967G>A	c.(3967-3969)Gaa>Aaa	p.E1323K	SOGA2_ENST00000306285.7_Missense_Mutation_p.E329K|SOGA2_ENST00000359865.3_Missense_Mutation_p.E1004K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E963K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E963K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E329K														p.E1004K(1)									CATCCCGTTTGAAGACCGGCC	0.607																																						uc002knr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3010-3012)GAA>AAA		hypothetical protein LOC23255							49.0	46.0	47.0					18																	8819111		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8819111G>A																												ENST00000306329.11:c.3967G>A	18.37:g.8819111G>A	ENSP00000305027:p.Glu1323Lys					KIAA0802_uc002knq.2_Missense_Mutation_p.E963K|KIAA0802_uc002kns.2_Missense_Mutation_p.E344K	p.E1004K	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			13	3152	+			1314						Missense_Mutation	SNP	ENST00000306329.11	37	c.3010G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.008723	0.75046	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	6.07	6.07	0.98685	.	0.000000	0.52532	D	0.000071	T	0.50171	0.1600	L	0.56769	1.78	0.50313	D	0.999866	P;P	0.48503	0.799;0.911	B;P	0.49999	0.318;0.628	T	0.32666	-0.9898	10	0.08179	T	0.78	-26.5798	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1314;1004	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1025;963;1004;963;329	ENSP00000429556:E963K;ENSP00000352927:E1004K;ENSP00000382924:E963K;ENSP00000303670:E329K	ENSP00000303670:E329K	E	+	1	0	CCDC165	8809111	1.000000	0.71417	0.996000	0.52242	0.355000	0.29361	6.261000	0.72509	2.884000	0.98904	0.655000	0.94253	GAA		PASS	0.607	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			18	14	18	14	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21957471	21957471	+	Silent	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:21957471A>T	ENST00000319481.3	-	2	233	c.27T>A	c.(25-27)ctT>ctA	p.L9L	OSBPL1A_ENST00000399441.4_Silent_p.L9L|OSBPL1A_ENST00000582618.1_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	9	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.L9L(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)					CGTGATGGAGAAGCTGTTGCT	0.353																																						uc002kve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(25-27)CTT>CTA		oxysterol-binding protein-like 1A isoform B							145.0	115.0	125.0					18																	21957471		2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21957471A>T	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.27T>A	18.37:g.21957471A>T							p.L9L	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			2	201	-	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)		9					B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.27T>A	CCDS11884.1																																																																																				PASS	0.353	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		37	19	37	19	---	---	---	---
DSG2	1829	broad.mit.edu	37	18	29099864	29099864	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:29099864G>C	ENST00000261590.8	+	3	389	c.180G>C	c.(178-180)gaG>gaC	p.E60D	DSG2_ENST00000585206.1_Missense_Mutation_p.E60D	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	60	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E60D(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTCTTCGGGAGGGAGAGGATC	0.463																																						uc002kwu.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(178-180)GAG>GAC		desmoglein 2 preproprotein							69.0	72.0	71.0					18																	29099864		1885	4112	5997	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099864G>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.180G>C	18.37:g.29099864G>C	ENSP00000261590:p.Glu60Asp						p.E60D	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	368	+			60			Extracellular (Potential).|Cadherin 1.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.180G>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118116	0.37339	.	.	ENSG00000046604	ENST00000261590	T	0.75477	-0.94	5.21	-3.65	0.04502	Cadherin-like (1);	0.000000	0.39407	U	0.001368	D	0.84800	0.5552	M	0.87038	2.855	0.37216	D	0.905048	D	0.63880	0.993	D	0.73380	0.98	D	0.85992	0.1489	10	0.87932	D	0	.	14.2821	0.66219	0.7683:0.0:0.2317:0.0	.	60	Q14126	DSG2_HUMAN	D	60	ENSP00000261590:E60D	ENSP00000261590:E60D	E	+	3	2	DSG2	27353862	0.936000	0.31750	0.914000	0.36105	0.986000	0.74619	-0.114000	0.10757	-0.888000	0.03956	0.561000	0.74099	GAG		PASS	0.463	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		65	52	65	52	---	---	---	---
ELP2	55250	broad.mit.edu	37	18	33725955	33725955	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:33725955G>T	ENST00000358232.6	+	10	1000	c.937G>T	c.(937-939)Gat>Tat	p.D313Y	ELP2_ENST00000350494.6_Missense_Mutation_p.D352Y|ELP2_ENST00000423854.2_Missense_Mutation_p.D243Y|ELP2_ENST00000542824.1_Missense_Mutation_p.D287Y|ELP2_ENST00000351393.6_Missense_Mutation_p.D287Y|ELP2_ENST00000442325.2_Missense_Mutation_p.D378Y	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	313					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.D313Y(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGCTTCCATGGATAAAACCAT	0.363																																						uc002kzk.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(937-939)GAT>TAT		elongator protein 2							157.0	169.0	165.0					18																	33725955		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33725955G>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.937G>T	18.37:g.33725955G>T	ENSP00000350967:p.Asp313Tyr					ELP2_uc010xcg.1_Missense_Mutation_p.D378Y|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.D287Y|ELP2_uc010xch.1_Missense_Mutation_p.D352Y|ELP2_uc002kzn.1_Missense_Mutation_p.D287Y|ELP2_uc002kzo.1_Missense_Mutation_p.D243Y	p.D313Y	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			10	947	+			313			WD 6.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.937G>T	CCDS11918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.276117|4.276117	0.80580|0.80580	.|.	.|.	ENSG00000134759|ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824|ENST00000535093	D;D;D;D;D;D|.	0.89415|.	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51|.	5.37|5.37	5.37|5.37	0.77165|0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86435|0.86435	0.5932|0.5932	M|M	0.93808|0.93808	3.46|3.46	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.89861|0.89861	0.4016|0.4016	10|5	0.87932|.	D|.	0|.	-22.4769|-22.4769	16.6003|16.6003	0.84812|0.84812	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	352;378;243;287;287;313|.	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86|.	.;.;.;.;.;ELP2_HUMAN|.	Y|C	313;287;378;243;352;287|133	ENSP00000350967:D313Y;ENSP00000257191:D287Y;ENSP00000414851:D378Y;ENSP00000391202:D243Y;ENSP00000316051:D352Y;ENSP00000443800:D287Y|.	ENSP00000316051:D352Y|.	D|W	+|+	1|3	0|0	ELP2|ELP2	31979953|31979953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	8.813000|8.813000	0.91963|0.91963	2.516000|2.516000	0.84829|0.84829	0.305000|0.305000	0.20034|0.20034	GAT|TGG		PASS	0.363	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		39	256	39	256	---	---	---	---
RIT2	6014	broad.mit.edu	37	18	40503725	40503725	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:40503725C>G	ENST00000326695.5	-	4	409	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q	RIT2_ENST00000282028.4_Missense_Mutation_p.E80Q|RIT2_ENST00000590910.1_Missense_Mutation_p.Q100H|RIT2_ENST00000589109.1_Missense_Mutation_p.E80Q	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	80					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E80Q(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGTGAATTCTGCCTGCAGG	0.383																																						uc002lav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)GAA>CAA		Ras-like without CAAX 2							120.0	128.0	126.0					18																	40503725		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40503725C>G	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.238G>C	18.37:g.40503725C>G	ENSP00000321805:p.Glu80Gln					RIT2_uc010dnf.2_Missense_Mutation_p.E80Q	p.E80Q	NM_002930	NP_002921	Q99578	RIT2_HUMAN			4	411	-			80					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.238G>C	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568334	0.65651	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	T;T	0.78481	-1.18;-1.18	5.45	5.45	0.79879	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000008	T	0.77110	0.4082	M	0.61703	1.905	0.50039	D	0.999849	B;B	0.32071	0.355;0.05	B;B	0.34931	0.192;0.026	T	0.72663	-0.4225	10	0.19590	T	0.45	.	19.2442	0.93895	0.0:1.0:0.0:0.0	.	80;80	Q99578-2;Q99578	.;RIT2_HUMAN	Q	80	ENSP00000321805:E80Q;ENSP00000282028:E80Q	ENSP00000282028:E80Q	E	-	1	0	RIT2	38757723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.396000	0.73234	2.717000	0.92951	0.655000	0.94253	GAA		PASS	0.383	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		282	67	282	67	---	---	---	---
FECH	2235	broad.mit.edu	37	18	55247367	55247367	+	Silent	SNP	G	G	A	rs147500247		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:55247367G>A	ENST00000262093.5	-	2	283	c.132C>T	c.(130-132)gcC>gcT	p.A44A	FECH_ENST00000382873.3_Silent_p.A44A|FECH_ENST00000585699.1_Intron	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	44					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)	p.A44A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				CTGTGGTGACGGCCGCTGCAG	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18805	0.0		0.0	False		,,,				2504	0.0					uc002lgq.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(130-132)GCC>GCT		ferrochelatase isoform b precursor		G	,	0,4406		0,0,2203	117.0	107.0	110.0		132,132	-7.7	0.0	18	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FECH	NM_000140.3,NM_001012515.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	44/424,44/430	55247367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55247367G>A	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.132C>T	18.37:g.55247367G>A						FECH_uc002lgp.3_Silent_p.A44A|FECH_uc002lgr.3_5'UTR	p.A44A	NM_000140	NP_000131	P22830	HEMH_HUMAN			2	249	-		Colorectal(73;0.227)	44					A8KA72|Q8IXN1|Q8NAN0	Silent	SNP	ENST00000262093.5	37	c.132C>T	CCDS11964.1																																																																																				PASS	0.507	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			5	17	5	17	---	---	---	---
SERPINB12	89777	broad.mit.edu	37	18	61226897	61226897	+	Nonsense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:61226897C>G	ENST00000269491.1	+	3	330	c.330C>G	c.(328-330)taC>taG	p.Y110*	SERPINB12_ENST00000382768.1_Nonsense_Mutation_p.Y130*	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	110					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y110*(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGACTGATTACACACTGAGTA	0.458																																						uc010xen.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(328-330)TAC>TAG		serine (or cysteine) proteinase inhibitor, clade							121.0	100.0	107.0					18																	61226897		2203	4300	6503	SO:0001587	stop_gained	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61226897C>G	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.330C>G	18.37:g.61226897C>G	ENSP00000269491:p.Tyr110*					SERPINB12_uc010xeo.1_Nonsense_Mutation_p.Y130*	p.Y110*	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			3	330	+			110					Q3SYB4	Nonsense_Mutation	SNP	ENST00000269491.1	37	c.330C>G	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843814	0.51164	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	.	.	.	5.54	1.15	0.20763	.	0.209202	0.33792	N	0.004549	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2762	0.31874	0.0:0.5899:0.0:0.4101	.	.	.	.	X	110;130	.	ENSP00000269491:Y110X	Y	+	3	2	SERPINB12	59377877	0.000000	0.05858	0.991000	0.47740	0.254000	0.26022	-0.503000	0.06383	0.301000	0.22738	-0.781000	0.03364	TAC		PASS	0.458	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		7	33	7	33	---	---	---	---
SERPINB4	6318	broad.mit.edu	37	18	61305083	61305084	+	Missense_Mutation	DNP	GC	GC	CT	rs200350590	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:61305083_61305084GC>CT	ENST00000341074.5	-	8	1157_1158	c.1042_1043GC>AG	c.(1042-1044)GCt>AGt	p.A348S	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A296S	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	348					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A348T(1)|p.A348G(1)|p.A348S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TACTACTACAGCGGTGGCAGCT	0.47																																						uc002ljf.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|lung(1)	3						c.(1042-1044)GCT>GGT|c.(1042-1044)GCT>ACT		serine (or cysteine) proteinase inhibitor, clade																																				SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61305083G>C|g.chr18:61305084C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1042_1043delinsCT	18.37:g.61305083_61305084delinsCT	ENSP00000343445:p.Ala348Ser					SERPINB4_uc002lje.2_Missense_Mutation_p.A327G|SERPINB4_uc002ljg.2_Missense_Mutation_p.A348G|SERPINB4_uc002lje.2_Missense_Mutation_p.A327T|SERPINB4_uc002ljg.2_Missense_Mutation_p.A348T	p.A348G|p.A348T	NM_002974	NP_002965	P48594	SPB4_HUMAN			8	1129|1128	-			348					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.1043C>G|c.1042G>A	CCDS11986.1																																																																																				PASS	0.470	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		9|8	15	8	15	---	---	---	---
SERPINB4	6318	broad.mit.edu	37	18	61306500	61306500	+	Silent	SNP	G	G	T	rs190123237		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:61306500G>T	ENST00000341074.5	-	7	802	c.687C>A	c.(685-687)gcC>gcA	p.A229A	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	229					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A229A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CCAGGACCTTGGCCTGTACAT	0.398																																						uc002ljf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(685-687)GCC>GCA		serine (or cysteine) proteinase inhibitor, clade							152.0	129.0	137.0					18																	61306500		2203	4300	6503	SO:0001819	synonymous_variant	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61306500G>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.687C>A	18.37:g.61306500G>T						SERPINB4_uc002lje.2_Silent_p.A208A|SERPINB4_uc002ljg.2_Intron	p.A229A	NM_002974	NP_002965	P48594	SPB4_HUMAN			7	773	-			229					A8K847	Silent	SNP	ENST00000341074.5	37	c.687C>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.417726	0.01136	.	.	ENSG00000206073	ENST00000413673	.	.	.	3.61	0.785	0.18584	.	.	.	.	.	T	0.30510	0.0767	.	.	.	0.23325	N	0.997902	.	.	.	.	.	.	T	0.24835	-1.0149	4	.	.	.	.	5.8341	0.18597	0.1749:0.0:0.6706:0.1545	.	.	.	.	Q	210	.	.	P	-	2	0	SERPINB4	59457480	0.000000	0.05858	0.119000	0.21687	0.010000	0.07245	-0.810000	0.04505	0.144000	0.18951	-1.218000	0.01608	CCA		PASS	0.398	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		10	23	10	23	---	---	---	---
SERPINB7	8710	broad.mit.edu	37	18	61459629	61459629	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:61459629G>T	ENST00000398019.2	+	3	496	c.171G>T	c.(169-171)ttG>ttT	p.L57F	SERPINB7_ENST00000540675.1_Intron|SERPINB7_ENST00000336429.2_Missense_Mutation_p.L57F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L57F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	57					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L57F(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GTTTACAGTTGCTTCATGTTA	0.368																																						uc002ljl.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(169-171)TTG>TTT		serine (or cysteine) proteinase inhibitor, clade							141.0	119.0	127.0					18																	61459629		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61459629G>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.171G>T	18.37:g.61459629G>T	ENSP00000381101:p.Leu57Phe					SERPINB7_uc002ljm.2_Missense_Mutation_p.L57F|SERPINB7_uc010xet.1_Intron|SERPINB7_uc010dqg.2_Missense_Mutation_p.L57F	p.L57F	NM_001040147	NP_001035237	O75635	SPB7_HUMAN			3	267	+		Esophageal squamous(42;0.129)	57					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.171G>T	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446864	0.25987	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000447428;ENST00000546027;ENST00000431370	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	4.94	-1.93	0.07594	Serpin domain (3);	1.654510	0.03680	N	0.245372	T	0.76637	0.4015	N	0.25380	0.74	0.09310	N	1	B	0.22909	0.077	B	0.28011	0.085	T	0.63037	-0.6726	10	0.87932	D	0	.	4.6416	0.12552	0.4029:0.2927:0.3044:0.0	.	57	O75635	SPB7_HUMAN	F	57	ENSP00000397301:L57F;ENSP00000337212:L57F;ENSP00000381101:L57F;ENSP00000402362:L57F;ENSP00000444861:L57F;ENSP00000393947:L57F	ENSP00000337212:L57F	L	+	3	2	SERPINB7	59610609	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-1.157000	0.03157	-0.520000	0.06435	0.655000	0.94253	TTG		PASS	0.368	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		7	21	7	21	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70532107	70532107	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:70532107G>T	ENST00000327305.6	-	3	813	c.156C>A	c.(154-156)atC>atA	p.I52I	NETO1_ENST00000397929.1_Silent_p.I51I|NETO1_ENST00000583169.1_Silent_p.I52I|NETO1_ENST00000299430.2_Silent_p.I51I|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	52	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.I51I(1)|p.I52I(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAGAGGTAAAGATACCTCCCT	0.423																																						uc002lkw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(154-156)ATC>ATA		neuropilin- and tolloid-like protein 1 isoform 3							121.0	110.0	114.0					18																	70532107		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70532107G>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.156C>A	18.37:g.70532107G>T						NETO1_uc002lkx.1_Silent_p.I51I|NETO1_uc002lky.1_Silent_p.I52I|NETO1_uc002lkz.2_Silent_p.I51I	p.I52I	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	3	440	-		Esophageal squamous(42;0.129)	52			CUB 1.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.156C>A	CCDS12000.1																																																																																				PASS	0.423	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		7	31	7	31	---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72998837	72998837	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:72998837G>T	ENST00000580243.1	+	2	1823	c.1475G>T	c.(1474-1476)gGg>gTg	p.G492V	TSHZ1_ENST00000322038.5_Missense_Mutation_p.G447V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	492					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G447V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCTCCCGCGGGGTCCACGACT	0.607																																						uc002lly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1339-1341)GGG>GTG		teashirt family zinc finger 1							58.0	72.0	67.0					18																	72998837		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998837G>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1475G>T	18.37:g.72998837G>T	ENSP00000464391:p.Gly492Val						p.G447V	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1903	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	492					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1340G>T		.	.	.	.	.	.	.	.	.	.	G	0.022	-1.416398	0.01136	.	.	ENSG00000179981	ENST00000322038	T	0.28255	1.62	5.35	4.47	0.54385	.	0.285346	0.34338	N	0.004043	T	0.29458	0.0734	L	0.60455	1.87	0.18873	N	0.999982	B	0.28713	0.22	B	0.28139	0.086	T	0.24977	-1.0145	10	0.32370	T	0.25	-31.1191	9.6183	0.39706	0.0741:0.143:0.7829:0.0	.	492	Q6ZSZ6	TSH1_HUMAN	V	447	ENSP00000323584:G447V	ENSP00000323584:G447V	G	+	2	0	TSHZ1	71127825	1.000000	0.71417	0.000000	0.03702	0.009000	0.06853	3.193000	0.50997	-1.101000	0.03027	-0.304000	0.09214	GGG		PASS	0.607	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		8	35	8	35	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74622041	74622042	+	Missense_Mutation	DNP	CA	CA	TT			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:74622041_74622042CA>TT	ENST00000253159.8	+	15	2761_2762	c.2563_2564CA>TT	c.(2563-2565)CAg>TTg	p.Q855L	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q857L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	855					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q855L(4)|p.Q855*(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGTGGCTCCACAGGACCCTCTG	0.515																																						uc002lmi.2																			6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(6)	ovary(4)	4						c.(2563-2565)CAG>TAG|c.(2563-2565)CAG>CTG		zinc finger protein 236																																				SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74622041C>T|g.chr18:74622042A>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		Exception_encountered	18.37:g.74622041_74622042delinsTT	ENSP00000253159:p.Gln855Leu					ZNF236_uc002lmj.2_RNA	p.Q855*|p.Q855L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	15	2761|2762	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	855					B2RTX9|Q9UL37	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000253159.8	37	c.2563C>T|c.2564A>T	CCDS42447.1																																																																																				PASS	0.515	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			15	54	15	54	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74631815	74631815	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:74631815G>T	ENST00000253159.8	+	20	3550	c.3352G>T	c.(3352-3354)Gag>Tag	p.E1118*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.E1120*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1118					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E1118*(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTTCACGGAGGAGGAGACAGC	0.532																																						uc002lmi.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)	4						c.(3352-3354)GAG>TAG		zinc finger protein 236							89.0	91.0	90.0					18																	74631815		2118	4221	6339	SO:0001587	stop_gained	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74631815G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3352G>T	18.37:g.74631815G>T	ENSP00000253159:p.Glu1118*					ZNF236_uc002lmj.2_RNA	p.E1118*	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	20	3550	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1118					B2RTX9|Q9UL37	Nonsense_Mutation	SNP	ENST00000253159.8	37	c.3352G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	43	10.002198	0.99314	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.9308	0.97118	0.0:0.0:1.0:0.0	.	.	.	.	X	1118	.	ENSP00000253159:E1118X	E	+	1	0	ZNF236	72760803	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.468000	0.97676	2.715000	0.92844	0.585000	0.79938	GAG		PASS	0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			10	68	10	68	---	---	---	---
RBFA	79863	broad.mit.edu	37	18	77794505	77794505	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr18:77794505G>T	ENST00000306735.5	+	1	148	c.10G>T	c.(10-12)Gcg>Tcg	p.A4S	RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.A4S|TXNL4A_ENST00000592957.1_5'Flank|TXNL4A_ENST00000589926.1_5'Flank|RP11-795F19.5_ENST00000569722.1_Missense_Mutation_p.A4S|TXNL4A_ENST00000585474.1_5'Flank	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	4					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.A4S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CATGTGGGCTGCGGCGGGCGG	0.751																																						uc002lns.2																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)GCG>TCG		hypothetical protein LOC79863 precursor							6.0	9.0	8.0					18																	77794505		1663	3507	5170	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77794505G>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.10G>T	18.37:g.77794505G>T	ENSP00000305696:p.Ala4Ser					TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.A4S|C18orf22_uc010dri.1_RNA	p.A4S	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	1	148	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	4					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.10G>T	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	g	10.87	1.472011	0.26423	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.53423	0.62;1.75	2.73	-0.681	0.11342	.	.	.	.	.	T	0.23926	0.0579	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.06405	0.002;0.002	T	0.15867	-1.0422	9	0.54805	T	0.06	1.1139	5.5415	0.17041	0.1372:0.4672:0.3956:0.0	.	4;4	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	S	4	ENSP00000262197:A4S;ENSP00000305696:A4S	ENSP00000262197:A4S	A	+	1	0	RBFA	75895493	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.321000	0.19558	-0.321000	0.08627	-0.319000	0.08680	GCG		PASS	0.751	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		3	4	3	4	---	---	---	---
MIER2	54531	broad.mit.edu	37	19	313641	313641	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:313641A>G	ENST00000264819.4	-	8	668	c.658T>C	c.(658-660)Tac>Cac	p.Y220H		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	220	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y220H(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTTCTCGTAGACTGCACAA	0.607																																						uc002lok.1																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)TAC>CAC		mesoderm induction early response 1, family							66.0	66.0	66.0					19																	313641		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:313641A>G	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.658T>C	19.37:g.313641A>G	ENSP00000264819:p.Tyr220His						p.Y220H	NM_017550	NP_060020	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	667	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	220			ELM2.		Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.658T>C	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.314895	0.60524	.	.	ENSG00000105556	ENST00000264819	T	0.29917	1.55	4.9	3.86	0.44501	ELM2 domain (2);	0.336359	0.21450	N	0.074353	T	0.55513	0.1925	M	0.80616	2.505	0.44149	D	0.996942	D	0.89917	1.0	D	0.85130	0.997	T	0.57533	-0.7795	10	0.87932	D	0	-14.3827	10.9031	0.47065	0.8419:0.1581:0.0:0.0	.	220	Q8N344	MIER2_HUMAN	H	220	ENSP00000264819:Y220H	ENSP00000264819:Y220H	Y	-	1	0	MIER2	264641	1.000000	0.71417	0.877000	0.34402	0.632000	0.37999	6.140000	0.71738	0.707000	0.31934	0.255000	0.18592	TAC		PASS	0.607	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		11	35	11	35	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1043053	1043053	+	Missense_Mutation	SNP	G	G	T	rs541040666		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:1043053G>T	ENST00000263094.6	+	8	824	c.593G>T	c.(592-594)cGc>cTc	p.R198L	ABCA7_ENST00000433129.1_Missense_Mutation_p.R198L|ABCA7_ENST00000435683.2_Missense_Mutation_p.R60L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	198					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.R198L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCGCTGCGCAGCCTGGTG	0.667																																						uc002lqw.3																			1	Substitution - Missense(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(592-594)CGC>CTC		ATP-binding cassette, sub-family A, member 7							28.0	31.0	30.0					19																	1043053		2202	4298	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043053G>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.593G>T	19.37:g.1043053G>T	ENSP00000263094:p.Arg198Leu					ABCA7_uc010dsb.1_Missense_Mutation_p.R60L	p.R198L	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	824	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	198			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.593G>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	5.215	0.225110	0.09916	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86497	-2.13;-2.13	4.1	1.92	0.25849	.	.	.	.	.	T	0.72366	0.3451	N	0.08118	0	0.19575	N	0.999965	B;B	0.10296	0.001;0.003	B;B	0.09377	0.001;0.004	T	0.60337	-0.7283	9	0.42905	T	0.14	.	7.3426	0.26646	0.1915:0.6197:0.1888:0.0	.	60;198	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	198	ENSP00000263094:R198L;ENSP00000414062:R198L	ENSP00000263094:R198L	R	+	2	0	ABCA7	994053	0.000000	0.05858	0.978000	0.43139	0.001000	0.01503	0.628000	0.24522	0.344000	0.23847	-1.964000	0.00472	CGC		PASS	0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		5	18	5	18	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1056367	1056367	+	Silent	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:1056367C>G	ENST00000263094.6	+	33	4686	c.4455C>G	c.(4453-4455)gcC>gcG	p.A1485A	ABCA7_ENST00000433129.1_Silent_p.A1485A|ABCA7_ENST00000435683.2_Silent_p.A1347A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1485					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.A1485A(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATGGTGGCCTTTGTCAACC	0.612																																						uc002lqw.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(4453-4455)GCC>GCG		ATP-binding cassette, sub-family A, member 7							107.0	97.0	101.0					19																	1056367		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056367C>G	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4455C>G	19.37:g.1056367C>G						ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank	p.A1485A	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	33	4686	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1485			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.4455C>G	CCDS12055.1																																																																																				PASS	0.612	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		6	20	6	20	---	---	---	---
CACTIN	58509	broad.mit.edu	37	19	3611925	3611925	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:3611925C>A	ENST00000429344.2	-	10	2325	c.2273G>T	c.(2272-2274)cGg>cTg	p.R758L	CACTIN_ENST00000248420.5_Missense_Mutation_p.R758L|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Splice_Site_p.R690L	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	758					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R690L(1)|p.R758L(1)									GGGCCGTCACCGCCGATAGCG	0.647																																						uc002lyh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2272-2274)CGG>CTG		chromosome 19 open reading frame 29							32.0	37.0	35.0					19																	3611925		1998	4142	6140	SO:0001583	missense	58509					catalytic step 2 spliceosome	protein binding	g.chr19:3611925C>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2273G>T	19.37:g.3611925C>A	ENSP00000415078:p.Arg758Leu					C19orf29_uc010xho.1_Missense_Mutation_p.R217L|C19orf29_uc010dtn.2_Missense_Mutation_p.R606L|C19orf29_uc002lyi.3_Missense_Mutation_p.R758L|C19orf29_uc010dto.2_RNA	p.R758L	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	10	2326	-		Hepatocellular(1079;0.137)	758					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.2273G>T	CCDS45920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.418472|4.418472	0.83559|0.83559	.|.	.|.	ENSG00000226800|ENSG00000105298	ENST00000447295|ENST00000429344;ENST00000248420;ENST00000221899	.|.	.|.	.|.	4.31|4.31	2.09|2.09	0.27110|0.27110	.|Cactin protein, cactus-binding domain, C-terminal (1);	.|0.067266	.|0.56097	.|U	.|0.000025	T|T	0.78317|0.78317	0.4264|0.4264	M|M	0.89095|0.89095	3.005|3.005	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.997;1.0	T|T	0.77515|0.77515	-0.2559|-0.2559	5|9	.|0.87932	.|D	.|0	.|.	7.3802|7.3802	0.26851|0.26851	0.1677:0.7414:0.0:0.0909|0.1677:0.7414:0.0:0.0909	.|.	.|758;758	.|Q8WUQ7-2;Q8WUQ7	.|.;CS029_HUMAN	Q|L	66|758;758;690	.|.	.|ENSP00000221899:R690L	P|R	+|-	2|2	0|0	C19orf29OS|C19orf29	3562925|3562925	0.998000|0.998000	0.40836|0.40836	0.821000|0.821000	0.32701|0.32701	0.007000|0.007000	0.05969|0.05969	7.125000|7.125000	0.77193|0.77193	0.530000|0.530000	0.28619|0.28619	0.643000|0.643000	0.83706|0.83706	CCG|CGG		PASS	0.647	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			10	14	10	14	---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5456134	5456134	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:5456134C>T	ENST00000222033.4	+	1	709	c.632C>T	c.(631-633)tCa>tTa	p.S211L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	211	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S211L(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCCATCCCCTCAGTGTTCGTG	0.677																																						uc002mca.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(631-633)TCA>TTA		zinc and ring finger 4 precursor							68.0	69.0	69.0					19																	5456134		2165	4263	6428	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456134C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.632C>T	19.37:g.5456134C>T	ENSP00000222033:p.Ser211Leu						p.S211L	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	709	+			211			Extracellular (Potential).|PA.		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.632C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322294	0.60634	.	.	ENSG00000105428	ENST00000222033	T	0.06768	3.26	4.44	4.44	0.53790	Protease-associated domain, PA (1);	0.075358	0.56097	U	0.000040	T	0.24624	0.0597	H	0.94620	3.56	0.09310	N	1	P	0.42078	0.77	B	0.43413	0.419	T	0.35798	-0.9774	10	0.87932	D	0	.	13.7664	0.62997	0.0:1.0:0.0:0.0	.	211	Q8WWF5	ZNRF4_HUMAN	L	211	ENSP00000222033:S211L	ENSP00000222033:S211L	S	+	2	0	ZNRF4	5407134	0.021000	0.18746	0.027000	0.17364	0.888000	0.51559	2.933000	0.48948	2.021000	0.59480	0.491000	0.48974	TCA		PASS	0.677	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		11	43	11	43	---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5622569	5622569	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:5622569T>A	ENST00000252542.4	-	1	422	c.158A>T	c.(157-159)aAg>aTg	p.K53M	SAFB_ENST00000538656.1_5'Flank|SAFB_ENST00000292123.5_5'Flank|SAFB_ENST00000454510.1_5'Flank|SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000588852.1_5'Flank|SAFB_ENST00000433404.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	53	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K53M(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CAGGACGCTCTTGTTGCCGCC	0.726																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)AAG>ATG		scaffold attachment factor B2							25.0	24.0	24.0					19																	5622569		2203	4300	6503	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5622569T>A	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.158A>T	19.37:g.5622569T>A	ENSP00000252542:p.Lys53Met					SAFB_uc010xiq.1_5'Flank|SAFB_uc002mcf.2_5'Flank|SAFB_uc002mcg.2_5'Flank|SAFB_uc002mce.3_5'Flank|SAFB_uc010xir.1_5'Flank|SAFB_uc010xis.1_5'Flank|SAFB_uc010xit.1_5'Flank|SAFB_uc010xiu.1_5'Flank|SAFB2_uc010xio.1_Missense_Mutation_p.K53M|SAFB2_uc010xip.1_RNA	p.K53M	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	1	370	-			53			SAP.		B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.158A>T	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.868014	0.91587	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542;ENST00000536849	T	0.28666	1.6	3.98	3.98	0.46160	DNA-binding SAP (4);	0.000000	0.48286	D	0.000194	T	0.68393	0.2996	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.80542	-0.1336	10	0.87932	D	0	-30.1501	13.3255	0.60457	0.0:0.0:0.0:1.0	.	53;53	A0PJ47;Q14151	.;SAFB2_HUMAN	M	53;53;53;53;32	ENSP00000252542:K53M	ENSP00000252542:K53M	K	-	2	0	SAFB2	5573569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.224000	0.72265	1.796000	0.52611	0.459000	0.35465	AAG		PASS	0.726	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		5	8	5	8	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8175984	8175984	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:8175984C>G	ENST00000600128.1	-	33	4582	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q	FBN3_ENST00000601739.1_Missense_Mutation_p.E1390Q|FBN3_ENST00000270509.2_Missense_Mutation_p.E1390Q			Q75N90	FBN3_HUMAN	fibrillin 3	1390	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1390Q(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						AAGCCCATCTCACATTCACAG	0.642																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(4168-4170)GAG>CAG		fibrillin 3 precursor							73.0	67.0	69.0					19																	8175984		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8175984C>G		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.4168G>C	19.37:g.8175984C>G	ENSP00000470498:p.Glu1390Gln						p.E1390Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			32	4189	-			1390			EGF-like 21; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4168G>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993779	0.35131	.	.	ENSG00000142449	ENST00000270509	D	0.92299	-3.01	3.67	1.42	0.22433	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.88179	0.6367	N	0.20357	0.565	0.48975	D	0.999736	D	0.59767	0.986	P	0.55260	0.772	D	0.83931	0.0306	10	0.39692	T	0.17	.	8.1612	0.31201	0.0:0.7493:0.1597:0.091	.	1390	Q75N90	FBN3_HUMAN	Q	1390	ENSP00000270509:E1390Q	ENSP00000270509:E1390Q	E	-	1	0	FBN3	8081984	1.000000	0.71417	0.029000	0.17559	0.024000	0.10985	5.511000	0.67024	0.162000	0.19483	-0.502000	0.04539	GAG		PASS	0.642	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		6	16	6	16	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9010658	9010658	+	Silent	SNP	G	G	A	rs561116953	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:9010658G>A	ENST00000397910.4	-	38	39206	c.39003C>T	c.(39001-39003)ccC>ccT	p.P13001P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13003					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.P13001P(1)|p.P153P(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						TTGTGGGGCTGGGGAGGGAGG	0.483													G|||	6	0.00119808	0.0	0.0	5008	,	,		20738	0.0		0.0	False		,,,				2504	0.0061					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.(39001-39003)CCC>CCT		mucin 16							83.0	75.0	78.0					19																	9010658		1921	4129	6050	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9010658G>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.39003C>T	19.37:g.9010658G>A						MUC16_uc010xki.1_Intron	p.P13001P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			38	39207	-			13003			Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39003C>T	CCDS54212.1																																																																																				PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	10	16	10	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9069470	9069470	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:9069470C>A	ENST00000397910.4	-	3	18179	c.17976G>T	c.(17974-17976)gaG>gaT	p.E5992D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5994	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.E5992D(2)|p.E1625D(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						AAGTGAGTATCTCACCTGAGA	0.458																																						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.(17974-17976)GAG>GAT		mucin 16							164.0	161.0	162.0					19																	9069470		1938	4138	6076	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069470C>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.17976G>T	19.37:g.9069470C>A	ENSP00000381008:p.Glu5992Asp						p.E5992D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18180	-			5994			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17976G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.856	-0.030819	0.07543	.	.	ENSG00000181143	ENST00000397910	T	0.31247	1.5	0.9	-0.554	0.11811	.	.	.	.	.	T	0.16428	0.0395	N	0.19112	0.55	.	.	.	P	0.49961	0.93	B	0.40444	0.329	T	0.19549	-1.0302	8	0.87932	D	0	.	4.7787	0.13192	0.0:0.6059:0.3941:0.0	.	5992	B5ME49	.	D	5992	ENSP00000381008:E5992D	ENSP00000381008:E5992D	E	-	3	2	MUC16	8930470	0.000000	0.05858	0.001000	0.08648	0.128000	0.20619	-0.391000	0.07323	-0.076000	0.12775	0.281000	0.19383	GAG		PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	92	21	92	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9083474	9083474	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:9083474C>G	ENST00000397910.4	-	1	8544	c.8341G>C	c.(8341-8343)Gag>Cag	p.E2781Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2781	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E2781Q(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						GATGCCCTCTCAAGCCCAGCT	0.493																																						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.(8341-8343)GAG>CAG		mucin 16							67.0	63.0	64.0					19																	9083474		1913	4136	6049	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083474C>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.8341G>C	19.37:g.9083474C>G	ENSP00000381008:p.Glu2781Gln						p.E2781Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8545	-			2781			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8341G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.347	0.830098	0.16749	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.235	0.235	0.15431	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.59546	0.859	T	0.46005	-0.9222	7	0.87932	D	0	.	.	.	.	.	2781	B5ME49	.	Q	2781	ENSP00000381008:E2781Q	ENSP00000381008:E2781Q	E	-	1	0	MUC16	8944474	0.411000	0.25384	0.688000	0.30117	0.697000	0.40408	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	GAG		PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	22	23	22	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10076996	10076996	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:10076996A>T	ENST00000264828.3	-	64	4861	c.4776T>A	c.(4774-4776)ttT>ttA	p.F1592L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1592	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.F1592L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCACGATCTCAAACTTCTTGT	0.577																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(4774-4776)TTT>TTA		collagen, type V, alpha 3 preproprotein							77.0	55.0	63.0					19																	10076996		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10076996A>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4776T>A	19.37:g.10076996A>T	ENSP00000264828:p.Phe1592Leu						p.F1592L	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		64	4862	-			1592			Fibrillar collagen NC1.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4776T>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	7.160	0.585425	0.13749	.	.	ENSG00000080573	ENST00000264828	D	0.88741	-2.42	4.1	0.491	0.16867	Fibrillar collagen, C-terminal (3);	0.331422	0.27105	N	0.020919	D	0.83198	0.5202	L	0.34521	1.04	0.34373	D	0.692267	P	0.38978	0.652	B	0.44224	0.444	T	0.79240	-0.1885	10	0.31617	T	0.26	.	9.1456	0.36930	0.7438:0.0:0.2562:0.0	.	1592	P25940	CO5A3_HUMAN	L	1592	ENSP00000264828:F1592L	ENSP00000264828:F1592L	F	-	3	2	COL5A3	9937996	0.001000	0.12720	0.994000	0.49952	0.293000	0.27360	-0.190000	0.09615	-0.423000	0.07394	-2.025000	0.00428	TTT		PASS	0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		27	16	27	16	---	---	---	---
SLC44A2	57153	broad.mit.edu	37	19	10753987	10753987	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:10753987G>A	ENST00000335757.5	+	22	2423	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	SLC44A2_ENST00000407327.4_Missense_Mutation_p.E681K|SLC44A2_ENST00000586078.1_3'UTR			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	683					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.E683K(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGCTCGGCCGAGAGGCCTTA	0.607																																						uc002mpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2047-2049)GAG>AAG		solute carrier family 44, member 2 isoform 1	Choline(DB00122)						38.0	34.0	36.0					19																	10753987		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10753987G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.2047G>A	19.37:g.10753987G>A	ENSP00000336888:p.Glu683Lys					SLC44A2_uc002mpe.3_Missense_Mutation_p.E681K|SLC44A2_uc002mpg.1_3'UTR|SLC44A2_uc002mph.2_Missense_Mutation_p.E232K|SLC44A2_uc002mpi.2_3'UTR	p.E683K	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		22	2186	+			683			Cytoplasmic (Potential).		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.2047G>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535702	0.96460	.	.	ENSG00000129353	ENST00000407327;ENST00000335757	T;T	0.11495	2.77;2.77	5.19	5.19	0.71726	.	0.099641	0.64402	D	0.000002	T	0.36026	0.0952	M	0.85299	2.745	0.80722	D	1	P;D	0.67145	0.879;0.996	B;P	0.62491	0.324;0.903	T	0.29150	-1.0021	10	0.62326	D	0.03	.	17.4847	0.87684	0.0:0.0:1.0:0.0	.	683;681	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	K	681;683	ENSP00000385135:E681K;ENSP00000336888:E683K	ENSP00000336888:E683K	E	+	1	0	SLC44A2	10614987	1.000000	0.71417	0.961000	0.40146	0.936000	0.57629	7.359000	0.79477	2.427000	0.82271	0.563000	0.77884	GAG		PASS	0.607	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			3	8	3	8	---	---	---	---
DNASE2	1777	broad.mit.edu	37	19	12989370	12989370	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:12989370G>T	ENST00000222219.3	-	5	627	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.P124T	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	179					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)	p.P179T(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						TAGACCCAGGGGTAGGTGTAG	0.547																																						uc002mvn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)CCC>ACC	Direct_reversal_of_damage	deoxyribonuclease II, lysosomal precursor							75.0	70.0	72.0					19																	12989370		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12989370G>T	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.535C>A	19.37:g.12989370G>T	ENSP00000222219:p.Pro179Thr					DNASE2_uc010xmr.1_Missense_Mutation_p.P124T	p.P179T	NM_001375	NP_001366	O00115	DNS2A_HUMAN			5	681	-			179					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.535C>A	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012239	0.54468	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.16073	2.37;2.37	5.49	5.49	0.81192	.	0.113829	0.64402	D	0.000010	T	0.43612	0.1255	M	0.83852	2.665	0.58432	D	0.999996	D;D	0.89917	1.0;0.967	D;P	0.79784	0.993;0.897	T	0.40213	-0.9575	10	0.62326	D	0.03	.	11.8874	0.52610	0.0:0.0:0.8257:0.1743	.	124;179	B7Z4K6;O00115	.;DNS2A_HUMAN	T	179;124	ENSP00000222219:P179T;ENSP00000445988:P124T	ENSP00000222219:P179T	P	-	1	0	DNASE2	12850370	1.000000	0.71417	0.297000	0.24988	0.365000	0.29674	3.270000	0.51600	2.580000	0.87095	0.563000	0.77884	CCC		PASS	0.547	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			5	38	5	38	---	---	---	---
SLC1A6	6511	broad.mit.edu	37	19	15072908	15072908	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:15072908C>G	ENST00000221742.3	-	5	848	c.841G>C	c.(841-843)Gtc>Ctc	p.V281L	SLC1A6_ENST00000544886.2_Missense_Mutation_p.V281L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V281L|SLC1A6_ENST00000430939.2_Missense_Mutation_p.V217L|SLC1A6_ENST00000598504.1_Missense_Mutation_p.V281L	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	281					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.V281L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CCACCAATGACCAGCCCAAAG	0.562																																						uc002naa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|ovary(2)|skin(1)	6						c.(841-843)GTC>CTC		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)						105.0	97.0	100.0					19																	15072908		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15072908C>G		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.841G>C	19.37:g.15072908C>G	ENSP00000221742:p.Val281Leu					SLC1A6_uc010dzu.1_Missense_Mutation_p.V281L|SLC1A6_uc010xod.1_Missense_Mutation_p.V217L|SLC1A6_uc002nab.2_Missense_Mutation_p.V281L|SLC1A6_uc002nac.2_Missense_Mutation_p.V281L	p.V281L	NM_005071	NP_005062	P48664	EAA4_HUMAN			5	849	-			281			Helical; (Potential).		Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.841G>C	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	13.95	2.389104	0.42410	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.59224	0.28;0.3;0.3	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.38953	1.18	0.58432	D	0.999996	B;P;B	0.50272	0.377;0.933;0.095	B;P;B	0.49477	0.241;0.612;0.05	T	0.49952	-0.8884	10	0.25106	T	0.35	-34.5558	14.8577	0.70351	0.0:1.0:0.0:0.0	.	217;281;281	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	L	217;281;281	ENSP00000409386:V217L;ENSP00000221742:V281L;ENSP00000446175:V281L	ENSP00000221742:V281L	V	-	1	0	SLC1A6	14933908	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.538000	0.36094	2.362000	0.80069	0.460000	0.39030	GTC		PASS	0.562	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		36	36	36	36	---	---	---	---
CCDC105	126402	broad.mit.edu	37	19	15133834	15133834	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:15133834G>A	ENST00000292574.3	+	7	1485	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	468						extracellular vesicular exosome (GO:0070062)		p.R468Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTGCGCCAGCGGCAACCGCAC	0.687																																						uc002nae.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1402-1404)CGG>CAG		coiled-coil domain containing 105							27.0	22.0	24.0					19																	15133834		2199	4292	6491	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15133834G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1403G>A	19.37:g.15133834G>A	ENSP00000292574:p.Arg468Gln						p.R468Q	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			7	1502	+			468					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.1403G>A	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	g	12.03	1.816390	0.32145	.	.	ENSG00000160994	ENST00000292574	T	0.14893	2.47	4.12	-0.689	0.11313	.	1.351000	0.05091	N	0.485224	T	0.11922	0.0290	L	0.36672	1.1	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.32348	-0.9910	10	0.23302	T	0.38	-6.4437	3.3422	0.07123	0.3084:0.0:0.5087:0.1829	.	468	Q8IYK2	CC105_HUMAN	Q	468	ENSP00000292574:R468Q	ENSP00000292574:R468Q	R	+	2	0	CCDC105	14994834	0.005000	0.15991	0.218000	0.23776	0.787000	0.44495	0.252000	0.18278	-0.094000	0.12374	0.479000	0.44913	CGG		PASS	0.687	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		4	9	4	9	---	---	---	---
OR10H5	284433	broad.mit.edu	37	19	15905716	15905716	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:15905716C>A	ENST00000308940.8	+	1	956	c.858C>A	c.(856-858)ctC>ctA	p.L286L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L286L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CACCCTTCCTCAGCCCCATCA	0.532																																						uc010xos.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(856-858)CTC>CTA		olfactory receptor, family 10, subfamily H,							79.0	67.0	71.0					19																	15905716		2203	4297	6500	SO:0001819	synonymous_variant	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905716C>A	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.858C>A	19.37:g.15905716C>A							p.L286L	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			1	858	+			286			Helical; Name=7; (Potential).		Q6IFJ0|Q96R60	Silent	SNP	ENST00000308940.8	37	c.858C>A	CCDS32940.1																																																																																				PASS	0.532	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			8	37	8	37	---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17212909	17212909	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:17212909C>A	ENST00000594824.1	+	2	529	c.382C>A	c.(382-384)Cag>Aag	p.Q128K	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.Q128K|MYO9B_ENST00000595618.1_Missense_Mutation_p.Q128K			Q13459	MYO9B_HUMAN	myosin IXB	128					actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.Q128K(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTGGTGGCGCAGGCCACAGC	0.627																																						uc010eak.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(382-384)CAG>AAG		myosin IXB isoform 1							32.0	34.0	33.0					19																	17212909		2036	4178	6214	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17212909C>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.382C>A	19.37:g.17212909C>A	ENSP00000471367:p.Gln128Lys					MYO9B_uc002nfi.2_Missense_Mutation_p.Q128K|MYO9B_uc002nfj.1_Missense_Mutation_p.Q128K	p.Q128K	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			2	534	+			128			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.382C>A		.	.	.	.	.	.	.	.	.	.	C	6.961	0.547245	0.13312	.	.	ENSG00000099331	ENST00000397274	D	0.83673	-1.75	5.62	2.22	0.28083	.	0.141877	0.31495	N	0.007541	T	0.45498	0.1345	N	0.00621	-1.32	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.47686	-0.9098	10	0.07325	T	0.83	.	2.8787	0.05640	0.2236:0.4381:0.247:0.0913	.	128;128;134	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	K	128	ENSP00000380444:Q128K	ENSP00000380444:Q128K	Q	+	1	0	MYO9B	17073909	0.052000	0.20516	0.024000	0.17045	0.948000	0.59901	0.550000	0.23345	1.365000	0.46057	0.655000	0.94253	CAG		PASS	0.627	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			6	27	6	27	---	---	---	---
B3GNT3	10331	broad.mit.edu	37	19	17922653	17922653	+	Missense_Mutation	SNP	G	G	A	rs370538223		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:17922653G>A	ENST00000318683.6	+	3	988	c.841G>A	c.(841-843)Gct>Act	p.A281T	B3GNT3_ENST00000595387.1_Missense_Mutation_p.A281T	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	281					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 plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.A281T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CTTCACGGCCGCTGCCCTGCG	0.572																																						uc002nhk.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(841-843)GCT>ACT		UDP-GlcNAc:betaGal		G	THR/ALA	0,4406		0,0,2203	97.0	85.0	89.0		841	-9.4	0.0	19		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	B3GNT3	NM_014256.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	281/373	17922653	1,13005	2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922653G>A	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.841G>A	19.37:g.17922653G>A	ENSP00000321874:p.Ala281Thr					B3GNT3_uc002nhl.1_Missense_Mutation_p.A281T|B3GNT3_uc010ebd.1_Missense_Mutation_p.A281T|B3GNT3_uc010ebe.1_Missense_Mutation_p.A281T	p.A281T	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			3	926	+			281			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.841G>A	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	7.275	0.607873	0.14002	0.0	1.16E-4	ENSG00000179913	ENST00000318683	T	0.43294	0.95	5.23	-9.42	0.00610	.	1.295680	0.05355	N	0.532633	T	0.18676	0.0448	N	0.16708	0.43	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.20638	-1.0269	10	0.12430	T	0.62	.	6.9907	0.24753	0.3922:0.4079:0.2:0.0	.	281	Q9Y2A9	B3GN3_HUMAN	T	281	ENSP00000321874:A281T	ENSP00000321874:A281T	A	+	1	0	B3GNT3	17783653	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.770000	0.01791	-0.612000	0.05701	-0.219000	0.12488	GCT		PASS	0.572	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		28	25	28	25	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22156135	22156135	+	Silent	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:22156135G>T	ENST00000397126.4	-	4	1849	c.1701C>A	c.(1699-1701)acC>acA	p.T567T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	567					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.T467T(2)|p.T567T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GATAACTAAGGGTTGAGGACC	0.343																																						uc002nqp.2																			3	Substitution - coding silent(3)		lung(3)	ovary(5)|skin(2)	7						c.(1399-1401)ACC>ACA		zinc finger protein 208							24.0	24.0	24.0					19																	22156135		1924	4103	6027	SO:0001819	synonymous_variant	7757							g.chr19:22156135G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1701C>A	19.37:g.22156135G>T						ZNF208_uc002nqo.1_Intron	p.T467T	NM_007153	NP_009084					5	1550	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1401C>A	CCDS54240.1																																																																																				PASS	0.343	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		14	11	14	11	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31040208	31040208	+	Missense_Mutation	SNP	G	G	T	rs563418287		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:31040208G>T	ENST00000355537.3	+	4	3829	c.3682G>T	c.(3682-3684)Gca>Tca	p.A1228S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1228					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.A1228S(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)					TTTATCCCAAGCACCGGAGAA	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16772	0.0		0.0	False		,,,				2504	0.0					uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3682-3684)GCA>TCA		zinc finger protein 536							36.0	35.0	35.0					19																	31040208		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040208G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3682G>T	19.37:g.31040208G>T	ENSP00000347730:p.Ala1228Ser					ZNF536_uc010edd.1_Missense_Mutation_p.A1228S	p.A1228S	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3820	+	Esophageal squamous(110;0.0834)		1228					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3682G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	6.028	0.373491	0.11409	.	.	ENSG00000198597	ENST00000355537	T	0.09255	3.0	4.96	2.61	0.31194	.	0.656635	0.16039	N	0.232506	T	0.06917	0.0176	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.17038	0.008;0.02	B;B	0.14023	0.007;0.01	T	0.30909	-0.9962	10	0.38643	T	0.18	-6.1456	8.1609	0.31198	0.1194:0.1645:0.7161:0.0	.	1228;1228	A7E228;O15090	.;ZN536_HUMAN	S	1228	ENSP00000347730:A1228S	ENSP00000347730:A1228S	A	+	1	0	ZNF536	35732048	0.081000	0.21417	0.043000	0.18650	0.587000	0.36485	0.834000	0.27518	1.034000	0.39945	0.650000	0.86243	GCA		PASS	0.672	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	16	6	16	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31767965	31767965	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:31767965C>A	ENST00000240587.4	-	2	3061	c.2734G>T	c.(2734-2736)Gcc>Tcc	p.A912S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	912					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A912S(1)|p.A729S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGGAGGCTGGCGGCAAACTGG	0.627																																						uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2734-2736)GCC>TCC		zinc finger protein 537							37.0	38.0	38.0					19																	31767965		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767965C>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2734G>T	19.37:g.31767965C>A	ENSP00000240587:p.Ala912Ser						p.A912S	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2799	-	Esophageal squamous(110;0.226)		912			Homeobox; atypical.		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2734G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	2.542	-0.306005	0.05458	.	.	ENSG00000121297	ENST00000240587	D	0.91740	-2.9	5.39	5.39	0.77823	Homeobox (2);Homeodomain-like (1);	0.109599	0.64402	D	0.000007	T	0.74427	0.3715	N	0.00453	-1.485	0.58432	D	0.999995	B	0.19706	0.038	B	0.18871	0.023	T	0.76033	-0.3107	10	0.02654	T	1	-26.3472	19.1608	0.93531	0.0:1.0:0.0:0.0	.	912	Q63HK5	TSH3_HUMAN	S	912	ENSP00000240587:A912S	ENSP00000240587:A912S	A	-	1	0	TSHZ3	36459805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.598000	0.61069	2.509000	0.84616	0.591000	0.81541	GCC		PASS	0.627	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		6	16	6	16	---	---	---	---
CEBPA	1050	broad.mit.edu	37	19	33792245	33792245	+	Nonstop_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:33792245C>G	ENST00000498907.2	-	1	1225	c.1076G>C	c.(1075-1077)tGa>tCa	p.*359S	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	0					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.?(5)|p.*359S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CCGCGCGCCTCACGCGCAGTT	0.706			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													uc002nun.2				Dom	yes		19	19q13.1	1050	Mis|N|F	"""CCAAT/enhancer binding protein (C/EBP), alpha"""			L			AML|MDS		6	Unknown(5)|Nonstop extension(1)	p.?(5)	haematopoietic_and_lymphoid_tissue(5)|lung(1)	haematopoietic_and_lymphoid_tissue(728)|lung(4)|stomach(1)|prostate(1)	734						c.(1075-1077)TGA>TCA		CCAAT/enhancer binding protein alpha							10.0	12.0	11.0					19																	33792245		2039	4167	6206	SO:0001578	stop_lost	1050	Acute_Myeloid_Leukemia_Familial_associated_with_CEBPA_germline_mutation	Familial Cancer Database	Familial AML	cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter		sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:33792245C>G	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.1076G>C	19.37:g.33792245C>G						LOC80054_uc002nuo.2_5'Flank	p.*359S	NM_004364	NP_004355	P49715	CEBPA_HUMAN			1	1186	-	Esophageal squamous(110;0.137)		359					A7LNP2|P78319|Q05CA4	Nonstop_Mutation	SNP	ENST00000498907.2	37	c.1076G>C	CCDS54243.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577031	0.45902	.	.	ENSG00000245848	ENST00000498907	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0484	0.25059	0.0:0.8028:0.0:0.1972	.	.	.	.	S	359	.	.	X	-	2	2	CEBPA	38484085	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.230000	0.32612	2.191000	0.70037	0.462000	0.41574	TGA		PASS	0.706	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1	NM_004364		7	7	7	7	---	---	---	---
PEPD	5184	broad.mit.edu	37	19	33984220	33984220	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:33984220C>A	ENST00000244137.7	-	5	450	c.417G>T	c.(415-417)caG>caT	p.Q139H	PEPD_ENST00000436370.3_Missense_Mutation_p.Q75H|PEPD_ENST00000397032.4_Missense_Mutation_p.Q139H	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	139					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.Q139H(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CAGAGGGCTTCTGTGACGTCA	0.542																																						uc002nur.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(415-417)CAG>CAT		prolidase isoform 1							59.0	62.0	61.0					19																	33984220		1972	4153	6125	SO:0001583	missense	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33984220C>A	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.417G>T	19.37:g.33984220C>A	ENSP00000244137:p.Gln139His					PEPD_uc010xrr.1_Missense_Mutation_p.Q139H|PEPD_uc010xrs.1_Missense_Mutation_p.Q75H	p.Q139H	NM_000285	NP_000276	P12955	PEPD_HUMAN			5	552	-	Esophageal squamous(110;0.137)		139					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	c.417G>T	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	C	9.506	1.104538	0.20632	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.78924	-1.04;-1.04;-1.22	4.67	3.63	0.41609	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.633886	0.15501	N	0.259007	T	0.55369	0.1916	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.43782	-0.9370	10	0.15066	T	0.55	-2.6541	9.2404	0.37493	0.0:0.8974:0.0:0.1026	.	75;139;139	E9PCE8;A8MX47;P12955	.;.;PEPD_HUMAN	H	139;139;75	ENSP00000244137:Q139H;ENSP00000380226:Q139H;ENSP00000391890:Q75H	ENSP00000244137:Q139H	Q	-	3	2	PEPD	38676060	0.586000	0.26782	0.737000	0.30932	0.566000	0.35808	1.530000	0.36007	1.100000	0.41517	0.563000	0.77884	CAG		PASS	0.542	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		5	12	5	12	---	---	---	---
HAUS5	23354	broad.mit.edu	37	19	36110360	36110360	+	Missense_Mutation	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:36110360A>G	ENST00000203166.5	+	14	1239	c.1214A>G	c.(1213-1215)aAg>aGg	p.K405R	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	405					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.K405R(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTGCTCATCAAGGGAAACTCG	0.642																																						uc002oam.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1213-1215)AAG>AGG		HAUS augmin-like complex, subunit 5							35.0	42.0	39.0					19																	36110360		1984	4146	6130	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36110360A>G	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1214A>G	19.37:g.36110360A>G	ENSP00000439056:p.Lys405Arg						p.K405R	NM_015302	NP_056117	O94927	HAUS5_HUMAN			14	1265	+			405					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1214A>G	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451406	0.84209	.	.	ENSG00000249115	ENST00000203166	T	0.44083	0.93	5.05	5.05	0.67936	.	0.054100	0.64402	D	0.000001	T	0.62527	0.2435	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66606	-0.5881	10	0.87932	D	0	-21.2034	11.1019	0.48179	1.0:0.0:0.0:0.0	.	405	O94927	HAUS5_HUMAN	R	405	ENSP00000439056:K405R	ENSP00000439056:K405R	K	+	2	0	HAUS5	40802200	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.619000	0.61218	2.125000	0.65367	0.460000	0.39030	AAG		PASS	0.642	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			4	15	4	15	---	---	---	---
SARS2	54938	broad.mit.edu	37	19	39421117	39421117	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:39421117G>A	ENST00000221431.6	-	1	419	c.260C>T	c.(259-261)cCc>cTc	p.P87L	CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000407800.2_5'Flank|MRPS12_ENST00000308018.4_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.P87L|SARS2_ENST00000430193.3_Missense_Mutation_p.P87L|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000594171.1_5'Flank|MRPS12_ENST00000402029.3_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	87					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)	p.P87L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACGATCGCGGGCAGGTCCGC	0.672											OREG0025455|OREG0032101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										uc002oka.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(259-261)CCC>CTC		seryl-tRNA synthetase 2 isoform b precursor							24.0	28.0	27.0					19																	39421117		2193	4279	6472	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421117G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.260C>T	19.37:g.39421117G>A	ENSP00000221431:p.Pro87Leu		OREG0032101|OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	885	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_Missense_Mutation_p.P87L|SARS2_uc002okb.2_Missense_Mutation_p.P87L|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_Missense_Mutation_p.P87L|MRPS12_uc002okc.2_5'Flank|MRPS12_uc002okd.2_5'Flank|MRPS12_uc002oke.2_5'Flank	p.P87L	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	420	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		87					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.260C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527684	0.44969	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.42131	0.98;0.98;0.98	5.51	3.25	0.37280	tRNA-binding arm (1);Seryl-tRNA synthetase, class IIa, N-terminal (1);	0.388897	0.26210	N	0.025681	T	0.51363	0.1670	M	0.72118	2.19	.	.	.	D;D;P	0.61080	0.96;0.989;0.731	P;P;B	0.52909	0.59;0.713;0.238	T	0.65492	-0.6155	9	0.51188	T	0.08	.	10.6826	0.45823	0.0:0.0:0.5823:0.4177	.	87;87;87	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	L	87	ENSP00000406754:P87L;ENSP00000221431:P87L;ENSP00000414954:P87L	ENSP00000221431:P87L	P	-	2	0	FBXO17	44112957	0.646000	0.27295	0.672000	0.29872	0.488000	0.33401	0.804000	0.27098	0.710000	0.31997	0.561000	0.74099	CCC		PASS	0.672	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		4	11	4	11	---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41083301	41083301	+	Splice_Site	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:41083301G>T	ENST00000291842.5	+	3	189		c.e3-1		SHKBP1_ENST00000600733.1_Splice_Site	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1						protein homooligomerization (GO:0051260)			p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTCCCTGCAGTCTTCTGAGC	0.617																																						uc002oob.2																			1	Unknown(1)		lung(1)	ovary(1)|pancreas(1)	2						c.e3-1		SH3KBP1 binding protein 1							49.0	44.0	46.0					19																	41083301		2203	4300	6503	SO:0001630	splice_region_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41083301G>T	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.141-1G>T	19.37:g.41083301G>T						SHKBP1_uc002ooc.2_Splice_Site_p.S47_splice|SHKBP1_uc002ood.2_Splice_Site_p.S47_splice|SHKBP1_uc010xvl.1_Splice_Site|SHKBP1_uc002ooe.2_5'UTR|SHKBP1_uc002oof.2_5'Flank|SHKBP1_uc010xvm.1_5'Flank|SHKBP1_uc010xvn.1_5'Flank	p.S47_splice	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	190	+								Q8N2I6|Q8WY93|Q96IB8	Splice_Site	SNP	ENST00000291842.5	37	c.141_splice	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	.	17.98	3.521486	0.64747	.	.	ENSG00000160410	ENST00000291842	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1242	0.81382	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SHKBP1	45775141	1.000000	0.71417	0.947000	0.38551	0.557000	0.35523	8.217000	0.89766	2.113000	0.64589	0.306000	0.20318	.		PASS	0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	Intron	5	16	5	16	---	---	---	---
ADCK4	79934	broad.mit.edu	37	19	41220008	41220008	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:41220008G>A	ENST00000324464.3	-	4	554	c.253C>T	c.(253-255)Cct>Tct	p.P85S	ITPKC_ENST00000263370.2_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.P85S|ADCK4_ENST00000450541.1_Missense_Mutation_p.P85S	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	85						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)	p.P85S(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGGGAGGCAGGCACCTTGCGT	0.567																																						uc002oor.2																			2	Substitution - Missense(2)		lung(2)		0						c.(253-255)CCT>TCT		aarF domain containing kinase 4 isoform a							91.0	84.0	86.0					19																	41220008		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41220008G>A	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.253C>T	19.37:g.41220008G>A	ENSP00000315118:p.Pro85Ser					ADCK4_uc002ooq.1_Missense_Mutation_p.P85S|ADCK4_uc002oos.2_Missense_Mutation_p.P85S|ITPKC_uc002oot.2_5'Flank	p.P85S	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		4	555	-			85					Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.253C>T	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	g	33	5.230027	0.95173	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.81247	-1.37;-1.47;-1.47	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93625	0.6951	10	0.87932	D	0	-0.9609	16.2208	0.82257	0.0:0.0:1.0:0.0	.	85;85	Q96D53;Q96D53-2	ADCK4_HUMAN;.	S	85	ENSP00000315118:P85S;ENSP00000412839:P85S;ENSP00000243583:P85S	ENSP00000243583:P85S	P	-	1	0	ADCK4	45911848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.266000	0.89871	2.567000	0.86603	0.556000	0.70494	CCT		PASS	0.567	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		9	21	9	21	---	---	---	---
PHLDB3	653583	broad.mit.edu	37	19	44001416	44001416	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:44001416C>A	ENST00000292140.5	-	6	1039	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	PHLDB3_ENST00000599242.1_Missense_Mutation_p.D227Y	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	227							enzyme binding (GO:0019899)	p.D227Y(2)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TGGGCCACATCCAGTTGTTCC	0.622																																						uc002own.3																			2	Substitution - Missense(2)		lung(2)		0						c.(679-681)GAT>TAT		pleckstrin homology-like domain, family B,							30.0	27.0	28.0					19																	44001416		2203	4299	6502	SO:0001583	missense	653583							g.chr19:44001416C>A		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.679G>T	19.37:g.44001416C>A	ENSP00000292140:p.Asp227Tyr					PHLDB3_uc010eit.2_5'Flank|PHLDB3_uc002owo.2_Missense_Mutation_p.D227Y	p.D227Y	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN			6	938	-		Prostate(69;0.0153)	227			Potential.		Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.679G>T	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	c	15.43	2.830680	0.50845	.	.	ENSG00000176531	ENST00000292140	T	0.55052	0.54	4.51	4.51	0.55191	.	0.427436	0.19864	N	0.104355	T	0.62024	0.2394	L	0.54323	1.7	0.26743	N	0.97035	D;D	0.69078	0.997;0.996	P;P	0.57548	0.823;0.75	T	0.57522	-0.7797	10	0.66056	D	0.02	.	13.1615	0.59547	0.0:1.0:0.0:0.0	.	227;227	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	Y	227	ENSP00000292140:D227Y	ENSP00000292140:D227Y	D	-	1	0	PHLDB3	48693256	1.000000	0.71417	0.991000	0.47740	0.681000	0.39784	4.113000	0.57851	2.235000	0.73313	0.299000	0.19835	GAT		PASS	0.622	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			6	8	6	8	---	---	---	---
PLAUR	5329	broad.mit.edu	37	19	44159726	44159726	+	Splice_Site	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:44159726C>T	ENST00000340093.3	-	5	702		c.e5-1		PLAUR_ENST00000601723.1_Splice_Site|PLAUR_ENST00000221264.4_Intron|PLAUR_ENST00000339082.3_Splice_Site	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor						attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.?(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTTGGACGCCCTATGGGGGCC	0.552																																						uc002oxf.1																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e5-1		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)						55.0	48.0	50.0					19																	44159726		2203	4300	6503	SO:0001630	splice_region_variant	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44159726C>T		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.473-1G>A	19.37:g.44159726C>T						PLAUR_uc002oxd.1_Splice_Site_p.G158_splice|PLAUR_uc002oxe.1_Splice_Site_p.G153_splice|PLAUR_uc002oxg.1_Intron	p.G158_splice	NM_002659	NP_002650	Q03405	UPAR_HUMAN			5	703	-		Prostate(69;0.0153)						A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Splice_Site	SNP	ENST00000340093.3	37	c.473_splice	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718301	0.30503	.	.	ENSG00000011422	ENST00000339082;ENST00000340093	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1798	0.59647	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLAUR	48851566	0.355000	0.24921	0.045000	0.18777	0.003000	0.03518	2.132000	0.42083	2.476000	0.83614	0.561000	0.74099	.		PASS	0.552	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659	Intron	7	17	7	17	---	---	---	---
IRGC	56269	broad.mit.edu	37	19	44223323	44223323	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:44223323G>C	ENST00000244314.5	+	2	812	c.613G>C	c.(613-615)Gcc>Ccc	p.A205P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	205	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.A205P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCTGCGGGAGGCCGGCGTGGC	0.706																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(613-615)GCC>CCC		immunity-related GTPase family, cinema							25.0	28.0	27.0					19																	44223323		2155	4231	6386	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223323G>C	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.613G>C	19.37:g.44223323G>C	ENSP00000244314:p.Ala205Pro						p.A205P	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	760	+		Prostate(69;0.0435)	205					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.613G>C	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187945	0.21954	.	.	ENSG00000124449	ENST00000244314	T	0.09817	2.94	4.82	1.45	0.22620	.	1.159190	0.06269	N	0.695258	T	0.14787	0.0357	L	0.58510	1.815	0.09310	N	1	P	0.43938	0.822	P	0.45195	0.473	T	0.27297	-1.0078	10	0.31617	T	0.26	.	5.6984	0.17869	0.173:0.0:0.6585:0.1685	.	205	Q6NXR0	IIGP5_HUMAN	P	205	ENSP00000244314:A205P	ENSP00000244314:A205P	A	+	1	0	IRGC	48915163	0.993000	0.37304	0.000000	0.03702	0.078000	0.17371	2.442000	0.44873	0.299000	0.22661	0.655000	0.94253	GCC		PASS	0.706	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		7	9	7	9	---	---	---	---
ZNF222	7673	broad.mit.edu	37	19	44537160	44537160	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:44537160T>C	ENST00000187879.8	+	4	1495	c.1333T>C	c.(1333-1335)Tca>Cca	p.S445P	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.S485P	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	445					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.S485P(1)|p.S445P(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TATAATTTTATCAttattttt	0.338																																						uc002oyc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1333-1335)TCA>CCA		zinc finger protein 222 isoform 2							20.0	23.0	22.0					19																	44537160		2197	4294	6491	SO:0001583	missense	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44537160T>C	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.1333T>C	19.37:g.44537160T>C	ENSP00000187879:p.Ser445Pro					ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.S485P|ZNF222_uc002oyd.2_Missense_Mutation_p.S391P	p.S445P	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	1516	+		Prostate(69;0.0435)	445					G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.1333T>C	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290080	0.40494	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.06218	3.33;3.39	1.71	-0.786	0.10946	.	.	.	.	.	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	P;P	0.46220	0.874;0.774	P;P	0.48270	0.572;0.544	T	0.33266	-0.9875	9	0.87932	D	0	.	2.6873	0.05111	0.2062:0.2014:0.0:0.5924	.	485;445	G5E9B9;Q9UK12	.;ZN222_HUMAN	P	485;445;391	ENSP00000375822:S485P;ENSP00000187879:S445P	ENSP00000187879:S445P	S	+	1	0	ZNF222	49229000	0.101000	0.21875	0.004000	0.12327	0.450000	0.32258	0.613000	0.24299	-0.494000	0.06669	0.172000	0.16884	TCA		PASS	0.338	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			9	18	9	18	---	---	---	---
MYADM	91663	broad.mit.edu	37	19	54377402	54377402	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:54377402G>T	ENST00000391769.2	+	3	899	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	MYADM_ENST00000391768.2_Missense_Mutation_p.V207L|MYADM_ENST00000336967.3_Missense_Mutation_p.V207L|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_Missense_Mutation_p.V207L|MYADM_ENST00000391770.4_Missense_Mutation_p.V207L	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	207	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.V207L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GGAGTGGTGCGTGGCGGTGTA	0.627																																						uc002qcl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)GTG>TTG		myeloid-associated differentiation marker							154.0	132.0	139.0					19																	54377402		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377402G>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.619G>T	19.37:g.54377402G>T	ENSP00000375649:p.Val207Leu					MYADM_uc002qcm.2_Missense_Mutation_p.V207L|MYADM_uc002qcn.2_Missense_Mutation_p.V207L|MYADM_uc002qco.2_Missense_Mutation_p.V207L|MYADM_uc002qcp.2_Missense_Mutation_p.V207L	p.V207L	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	767	+	Ovarian(34;0.19)		207			MARVEL 2.|Helical; (Potential).		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.619G>T	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978461	0.34942	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72	4.28	3.1	0.35709	Marvel (1);MARVEL-like domain (1);	0.169988	0.42420	D	0.000720	T	0.18045	0.0433	L	0.43923	1.385	0.31963	N	0.608143	B	0.14012	0.009	B	0.17433	0.018	T	0.07195	-1.0785	10	0.22706	T	0.39	-2.687	6.3953	0.21609	0.0:0.2586:0.5617:0.1797	.	207	Q96S97	MYADM_HUMAN	L	207;207;207;207;207;170;207;207	ENSP00000398269:V207L;ENSP00000337222:V207L;ENSP00000375650:V207L;ENSP00000416919:V207L;ENSP00000375651:V207L;ENSP00000375649:V207L;ENSP00000375648:V207L	ENSP00000337222:V207L	V	+	1	0	MYADM	59069214	0.895000	0.30542	1.000000	0.80357	0.716000	0.41182	1.588000	0.36633	2.133000	0.65898	0.306000	0.20318	GTG		PASS	0.627	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		19	26	19	26	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54782788	54782788	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:54782788C>T	ENST00000391749.4	-	6	1105	c.834G>A	c.(832-834)caG>caA	p.Q278Q	LILRB2_ENST00000391748.1_Silent_p.Q278Q|LILRB2_ENST00000391746.1_Silent_p.Q278Q|LILRB2_ENST00000434421.1_Silent_p.Q162Q|LILRB2_ENST00000314446.5_Silent_p.Q278Q|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	278	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.Q278Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAAGTTGGCCTGGGAGAGCC	0.637																																						uc002qfb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(832-834)CAG>CAA		leukocyte immunoglobulin-like receptor,							45.0	48.0	47.0					19																	54782788		2203	4299	6502	SO:0001819	synonymous_variant	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782788C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.834G>A	19.37:g.54782788C>T						LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.Q278Q|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.Q278Q|LILRB2_uc010yet.1_Silent_p.Q162Q|LILRB2_uc010yeu.1_RNA	p.Q278Q	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1100	-	Ovarian(34;0.19)		278			Extracellular (Potential).|Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.834G>A	CCDS12886.1																																																																																				PASS	0.637	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			6	19	6	19	---	---	---	---
LILRA3	11026	broad.mit.edu	37	19	54803513	54803513	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:54803513G>C	ENST00000251390.3	-	3	402	c.311C>G	c.(310-312)aCt>aGt	p.T104S	LILRA3_ENST00000391745.1_Missense_Mutation_p.T121S|LILRA3_ENST00000391744.3_Missense_Mutation_p.T104S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	104	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.T104S(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGGCCTGCAGTGTGGCTGCC	0.607																																						uc002qfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(310-312)ACT>AGT		leukocyte immunoglobulin-like receptor,							80.0	69.0	73.0					19																	54803513		2194	4152	6346	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54803513G>C	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.311C>G	19.37:g.54803513G>C	ENSP00000251390:p.Thr104Ser					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.T104S	p.T104S	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	376	-	Ovarian(34;0.19)		104			Ig-like C2-type 1.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.311C>G	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.557983	0.00910	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.12147	2.71;2.71;2.71	2.5	-0.055	0.13811	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.307360	0.05247	N	0.513250	T	0.06234	0.0161	N	0.04355	-0.22	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.13407	0.009;0.003	T	0.38585	-0.9654	10	0.28530	T	0.3	.	4.5662	0.12187	0.0:0.2286:0.4964:0.275	.	104;104	E7EU74;Q8N6C8	.;LIRA3_HUMAN	S	104;104;121	ENSP00000251390:T104S;ENSP00000375624:T104S;ENSP00000375625:T121S	ENSP00000251390:T104S	T	-	2	0	LILRA3	59495325	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.549000	0.00930	-0.030000	0.13804	0.485000	0.47835	ACT		PASS	0.607	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			4	25	4	25	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54848834	54848834	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:54848834G>A	ENST00000291759.4	-	5	845	c.789C>T	c.(787-789)ctC>ctT	p.L263L	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	263	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.L263L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGCGCTGGGGGAGGCCATCGG	0.657																																						uc002qfj.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(787-789)CTC>CTT		leukocyte immunoglobulin-like receptor subfamily							22.0	25.0	24.0					19																	54848834		2203	4298	6501	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54848834G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.789C>T	19.37:g.54848834G>A						LILRA4_uc002qfi.2_Silent_p.L197L	p.L263L	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	846	-	Ovarian(34;0.19)		263			Extracellular (Potential).|Ig-like C2-type 3.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.789C>T	CCDS12890.1																																																																																				PASS	0.657	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		4	15	4	15	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086444	55086444	+	Missense_Mutation	SNP	C	C	T	rs369853004	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:55086444C>T	ENST00000251377.3	+	5	732	c.599C>T	c.(598-600)tCg>tTg	p.S200L	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S188L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S200L|LILRA2_ENST00000391738.3_Missense_Mutation_p.S200L			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	200	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S200L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCTTATGACTCGAACTCTCCC	0.577													c|||	6	0.00119808	0.0045	0.0	5008	,	,		18436	0.0		0.0	False		,,,				2504	0.0					uc002qgg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)TCG>TTG		leukocyte immunoglobulin-like receptor,		C	LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	175.0	168.0	170.0		599,599	-1.6	0.0	19		170	0,8600		0,0,4300	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	145,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	200/484,200/467	55086444	2,13004	2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086444C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.599C>T	19.37:g.55086444C>T	ENSP00000251377:p.Ser200Leu					LILRA2_uc010ern.2_Missense_Mutation_p.S200L|LILRA2_uc002qgf.2_Missense_Mutation_p.S200L|LILRA2_uc010yfe.1_Missense_Mutation_p.S200L|LILRA2_uc010yff.1_Missense_Mutation_p.S188L|LILRA2_uc010ero.2_Missense_Mutation_p.S188L|LILRA2_uc010yfg.1_Missense_Mutation_p.S200L	p.S200L	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	4	688	+			200			Extracellular (Potential).|Ig-like C2-type 2.		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.599C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.638	0.895280	0.17613	4.54E-4	0.0	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00784	5.7;5.7;5.7;5.7;5.7	2.65	-1.6	0.08426	Immunoglobulin-like fold (1);	2.597690	0.01483	N	0.016765	T	0.01387	0.0045	M	0.73217	2.22	0.09310	N	1	B;B;B;B	0.18166	0.005;0.016;0.019;0.026	B;B;B;B	0.26310	0.01;0.068;0.046;0.025	T	0.49826	-0.8898	9	.	.	.	.	3.5933	0.07997	0.2804:0.214:0.5056:0.0	.	200;188;200;200	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	L	200;200;200;200;188	ENSP00000388131:S200L;ENSP00000251377:S200L;ENSP00000375618:S200L;ENSP00000251376:S200L;ENSP00000375617:S188L	.	S	+	2	0	LILRA2	59778256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.925000	0.03992	-0.350000	0.08262	-0.723000	0.03601	TCG		PASS	0.577	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			29	34	29	34	---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701752	56701752	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:56701752G>T	ENST00000586855.2	-	5	1245	c.932C>A	c.(931-933)cCt>cAt	p.P311H	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.P311H			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	311					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.P311H(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCTCCTTGAGGCTCTTCTTG	0.547																																						uc010ygh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(931-933)CCT>CAT		zinc finger and SCAN domain containing 5B							104.0	110.0	108.0					19																	56701752		2203	4300	6503	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701752G>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.932C>A	19.37:g.56701752G>T	ENSP00000466072:p.Pro311His						p.P311H	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	932	-			311						Missense_Mutation	SNP	ENST00000586855.2	37	c.932C>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257770	0.22965	.	.	ENSG00000197213	ENST00000358992	T	0.08102	3.13	1.99	0.871	0.19107	.	.	.	.	.	T	0.15912	0.0383	M	0.73962	2.25	0.09310	N	1	D	0.71674	0.998	P	0.60173	0.87	T	0.19484	-1.0304	9	0.08179	T	0.78	.	4.2425	0.10656	0.0:0.2615:0.4723:0.2662	.	311	A6NJL1	ZSA5B_HUMAN	H	311	ENSP00000351883:P311H	ENSP00000351883:P311H	P	-	2	0	ZSCAN5B	61393564	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-1.427000	0.02441	0.376000	0.24707	0.306000	0.20318	CCT		PASS	0.547	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		12	48	12	48	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327351	57327351	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:57327351G>T	ENST00000326441.9	-	10	2822	c.2459C>A	c.(2458-2460)gCt>gAt	p.A820D	PEG3_ENST00000593695.1_Missense_Mutation_p.A694D|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A696D|PEG3_ENST00000423103.2_Missense_Mutation_p.A820D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	820					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A820D(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTCCCTCCAGCACGAACTCT	0.463																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2458-2460)GCT>GAT		paternally expressed 3 isoform 1							125.0	119.0	121.0					19																	57327351		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327351G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2459C>A	19.37:g.57327351G>T	ENSP00000326581:p.Ala820Asp					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A791D|PEG3_uc002qnv.2_Missense_Mutation_p.A820D|PEG3_uc002qnw.2_Missense_Mutation_p.A696D|PEG3_uc002qnx.2_Missense_Mutation_p.A694D|PEG3_uc010etr.2_Missense_Mutation_p.A820D	p.A820D	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2810	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	820					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2459C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014834	0.35511	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02709	4.19;4.19	4.08	-0.768	0.11013	.	0.616098	0.14580	N	0.310944	T	0.05547	0.0146	M	0.64997	1.995	.	.	.	B;P;P	0.50066	0.148;0.931;0.905	B;P;P	0.49752	0.076;0.621;0.449	T	0.20338	-1.0278	9	0.87932	D	0	-0.6407	5.8203	0.18524	0.1825:0.2997:0.5178:0.0	.	696;820;755	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	820	ENSP00000326581:A820D;ENSP00000403051:A820D	ENSP00000326581:A820D	A	-	2	0	ZIM2	62019163	0.004000	0.15560	0.000000	0.03702	0.040000	0.13550	0.661000	0.25023	-0.006000	0.14370	-0.237000	0.12165	GCT		PASS	0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			26	47	26	47	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328094	57328094	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:57328094G>C	ENST00000326441.9	-	10	2079	c.1716C>G	c.(1714-1716)ttC>ttG	p.F572L	PEG3_ENST00000593695.1_Missense_Mutation_p.F446L|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.F448L|PEG3_ENST00000423103.2_Missense_Mutation_p.F572L|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	572					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.F572L(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACTATGAAGGAAGGTTTCCT	0.468																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1714-1716)TTC>TTG		paternally expressed 3 isoform 1							123.0	103.0	110.0					19																	57328094		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328094G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1716C>G	19.37:g.57328094G>C	ENSP00000326581:p.Phe572Leu					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.F543L|PEG3_uc002qnv.2_Missense_Mutation_p.F572L|PEG3_uc002qnw.2_Missense_Mutation_p.F448L|PEG3_uc002qnx.2_Missense_Mutation_p.F446L|PEG3_uc010etr.2_Missense_Mutation_p.F572L	p.F572L	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2067	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	572			C2H2-type 3.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1716C>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368864	0.61624	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.04015	3.73;3.73	4.14	2.02	0.26589	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000175	T	0.14874	0.0359	M	0.69523	2.12	.	.	.	D;D;D	0.89917	1.0;0.992;0.999	D;D;D	0.81914	0.995;0.987;0.995	T	0.07233	-1.0783	9	0.87932	D	0	-15.4798	5.6936	0.17843	0.3401:0.0:0.6599:0.0	.	448;572;507	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	L	572	ENSP00000326581:F572L;ENSP00000403051:F572L	ENSP00000326581:F572L	F	-	3	2	ZIM2	62019906	0.898000	0.30612	0.994000	0.49952	0.969000	0.65631	1.173000	0.31920	0.685000	0.31468	-0.142000	0.14014	TTC		PASS	0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			6	32	6	32	---	---	---	---
ZNF749	388567	broad.mit.edu	37	19	57955212	57955212	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:57955212G>A	ENST00000334181.4	+	3	946	c.696G>A	c.(694-696)ttG>ttA	p.L232L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	232					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.L232L(1)|p.L145L(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GTGGGGAATTGTTTAGGTACA	0.428																																						uc002qoq.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(694-696)TTG>TTA		zinc finger protein 749							57.0	54.0	55.0					19																	57955212		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955212G>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.696G>A	19.37:g.57955212G>A						ZNF547_uc002qpm.3_Intron	p.L232L	NM_001023561	NP_001018855	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	950	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	232			C2H2-type 3; degenerate.			Silent	SNP	ENST00000334181.4	37	c.696G>A	CCDS33132.2																																																																																				PASS	0.428	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		21	23	21	23	---	---	---	---
ZNF530	348327	broad.mit.edu	37	19	58118382	58118382	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:58118382G>A	ENST00000332854.6	+	3	1709	c.1489G>A	c.(1489-1491)Ggg>Agg	p.G497R	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	497					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.G497R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGTGTATGTGGGAAATCTTT	0.428																																						uc002qpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1489-1491)GGG>AGG		zinc finger protein 530							74.0	69.0	70.0					19																	58118382		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58118382G>A	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1489G>A	19.37:g.58118382G>A	ENSP00000332861:p.Gly497Arg					ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	p.G497R	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1709	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	497			C2H2-type 10.		O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.1489G>A	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171150	0.57584	.	.	ENSG00000183647	ENST00000332854	T	0.03524	3.9	2.39	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	M	0.75777	2.31	0.37502	D	0.916826	D	0.89917	1.0	D	0.87578	0.998	T	0.02075	-1.1218	9	0.87932	D	0	.	8.1114	0.30917	0.1333:0.0:0.8667:0.0	.	497	Q6P9A1	ZN530_HUMAN	R	497	ENSP00000332861:G497R	ENSP00000332861:G497R	G	+	1	0	ZNF530	62810194	1.000000	0.71417	0.411000	0.26484	0.076000	0.17211	3.666000	0.54540	0.345000	0.23873	-0.192000	0.12808	GGG		PASS	0.428	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		22	25	22	25	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961250	1961250	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:1961250A>T	ENST00000217305.2	-	4	709	c.484T>A	c.(484-486)Tat>Aat	p.Y162N	PDYN_ENST00000540134.1_Missense_Mutation_p.Y162N|PDYN_ENST00000539905.1_Missense_Mutation_p.Y162N|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	162					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.Y162N(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGCGAGATAGAGTGTGCCA	0.597																																						uc010gaj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(484-486)TAT>AAT		beta-neoendorphin-dynorphin preproprotein							113.0	109.0	110.0					20																	1961250		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961250A>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.484T>A	20.37:g.1961250A>T	ENSP00000217305:p.Tyr162Asn					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.Y162N|PDYN_uc010zpt.1_Missense_Mutation_p.Y7N	p.Y162N	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	726	-			162					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.484T>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	A	6.769	0.510821	0.12883	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80123	-1.34;-1.34;-1.34	4.71	-0.784	0.10954	.	1.592280	0.03223	N	0.177935	T	0.61689	0.2367	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.22706	T	0.39	-0.3444	1.0357	0.01548	0.1487:0.3465:0.152:0.3528	.	162	P01213	PDYN_HUMAN	N	162	ENSP00000440185:Y162N;ENSP00000442259:Y162N;ENSP00000217305:Y162N	ENSP00000217305:Y162N	Y	-	1	0	PDYN	1909250	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.315000	0.19451	-0.271000	0.09272	-1.250000	0.01514	TAT		PASS	0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			41	34	41	34	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9401951	9401951	+	Nonsense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:9401951C>G	ENST00000378493.1	+	23	2141	c.2126C>G	c.(2125-2127)tCa>tGa	p.S709*	PLCB4_ENST00000378473.3_Nonsense_Mutation_p.S721*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.S721*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.S709*|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.S709*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.S709*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	709	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S709*(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGGTTATATCAGGTCAATTC	0.413																																						uc002wnf.2																			1	Substitution - Nonsense(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(2125-2127)TCA>TGA		phospholipase C beta 4 isoform b							84.0	81.0	82.0					20																	9401951		2203	4300	6503	SO:0001587	stop_gained	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9401951C>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2126C>G	20.37:g.9401951C>G	ENSP00000367754:p.Ser709*					PLCB4_uc010gbw.1_Nonsense_Mutation_p.S709*|PLCB4_uc010gbx.2_Nonsense_Mutation_p.S721*|PLCB4_uc002wne.2_Nonsense_Mutation_p.S709*|PLCB4_uc002wnh.2_Nonsense_Mutation_p.S556*	p.S709*	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			25	2262	+			709			C2.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	37	c.2126C>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	43	10.071594	0.99330	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.68	5.68	0.88126	.	0.126333	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7897	0.96452	0.0:1.0:0.0:0.0	.	.	.	.	X	709;721;709;709;709;557	.	ENSP00000278655:S709X	S	+	2	0	PLCB4	9349951	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.818000	0.86416	2.694000	0.91930	0.467000	0.42956	TCA		PASS	0.413	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	13	16	13	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20171995	20171995	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:20171995C>A	ENST00000245957.5	+	15	1598	c.1522C>A	c.(1522-1524)Ctg>Atg	p.L508M	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		508								p.L508M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGATGGAACACTGCTGCAGGC	0.358																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1522-1524)CTG>ATG		hypothetical protein LOC26074							118.0	112.0	114.0					20																	20171995		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20171995C>A																												ENST00000245957.5:c.1522C>A	20.37:g.20171995C>A	ENSP00000245957:p.Leu508Met					C20orf26_uc010zse.1_Missense_Mutation_p.L488M	p.L508M	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	15	1598	+			508					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1522C>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646875	0.29246	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.09538	2.97	5.81	1.15	0.20763	.	0.665977	0.15145	N	0.278073	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	P;B	0.46395	0.877;0.01	P;B	0.46940	0.532;0.009	T	0.23976	-1.0173	10	0.49607	T	0.09	.	5.1819	0.15165	0.1229:0.6239:0.1127:0.1405	.	488;508	F8W6K4;Q8NHU2	.;CT026_HUMAN	M	448;488;508	ENSP00000245957:L508M	ENSP00000245957:L508M	L	+	1	2	C20orf26	20119995	0.000000	0.05858	0.147000	0.22382	0.538000	0.34931	1.117000	0.31234	0.357000	0.24183	0.650000	0.86243	CTG		PASS	0.358	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			11	16	11	16	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20621385	20621385	+	Silent	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:20621385T>A	ENST00000202677.7	-	6	517	c.510A>T	c.(508-510)acA>acT	p.T170T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	170					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.T170T(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGTCTCCAGTGTGCAAGGGC	0.463																																						uc002wrz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(508-510)ACA>ACT		akt substrate AS250							101.0	101.0	101.0					20																	20621385		1927	4132	6059	SO:0001819	synonymous_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20621385T>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.510A>T	20.37:g.20621385T>A						RALGAPA2_uc010zsg.1_5'UTR	p.T170T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			6	653	-			170					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	c.510A>T	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	T	8.620	0.891219	0.17613	.	.	ENSG00000188559	ENST00000432524	.	.	.	5.62	-8.35	0.00984	.	0.000000	0.85682	U	0.000000	T	0.39226	0.1070	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48410	-0.9038	6	0.39692	T	0.17	.	1.9839	0.03432	0.2004:0.3362:0.1033:0.36	.	.	.	.	S	22	.	ENSP00000414319:T22S	T	-	1	0	RALGAPA2	20569385	0.121000	0.22262	0.641000	0.29422	0.615000	0.37417	-0.735000	0.04888	-2.143000	0.00803	-0.326000	0.08463	ACT		PASS	0.463	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		19	31	19	31	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21687608	21687608	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:21687608C>A	ENST00000398485.2	+	2	873	c.819C>A	c.(817-819)gtC>gtA	p.V273V	PAX1_ENST00000444366.2_Silent_p.V249V|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	273					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V179V(1)|p.V273V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACCCCGGGGTCCCGGGCACGG	0.677																																						uc002wsj.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|kidney(1)	2						c.(817-819)GTC>GTA		paired box 1							19.0	23.0	22.0					20																	21687608		2195	4291	6486	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687608C>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.819C>A	20.37:g.21687608C>A						PAX1_uc010zsl.1_Silent_p.V273V|PAX1_uc010zsm.1_Silent_p.V249V	p.V273V	NM_006192	NP_006183	P15863	PAX1_HUMAN			2	873	+			273					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.819C>A	CCDS13146.2																																																																																				PASS	0.677	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			6	11	6	11	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25456757	25456757	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:25456757T>G	ENST00000278886.6	-	17	3243	c.3170A>C	c.(3169-3171)gAc>gCc	p.D1057A	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1057					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.D1057A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGTTTCCATGTCATCCTTCTC	0.532																																						uc002wux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3169-3171)GAC>GCC		ninein-like							128.0	109.0	115.0					20																	25456757		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25456757T>G		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3170A>C	20.37:g.25456757T>G	ENSP00000278886:p.Asp1057Ala					NINL_uc010gdn.1_Intron	p.D1057A	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			17	3244	-			1057			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3170A>C	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	1.990	-0.432074	0.04669	.	.	ENSG00000101004	ENST00000278886	T	0.05199	3.48	4.85	1.23	0.21249	.	0.923379	0.09285	N	0.823206	T	0.03263	0.0095	N	0.19112	0.55	0.09310	N	1	P	0.34662	0.462	B	0.26094	0.066	T	0.45293	-0.9271	10	0.23302	T	0.38	-2.3712	3.3746	0.07233	0.1653:0.2773:0.0:0.5574	.	1057	Q9Y2I6	NINL_HUMAN	A	1057	ENSP00000278886:D1057A	ENSP00000278886:D1057A	D	-	2	0	NINL	25404757	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.201000	0.17276	-0.062000	0.13088	-0.379000	0.06801	GAC		PASS	0.532	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		7	55	7	55	---	---	---	---
CCM2L	140706	broad.mit.edu	37	20	30602789	30602789	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:30602789C>A	ENST00000300415.8	+	2	126	c.113C>A	c.(112-114)cCc>cAc	p.P38H	CCM2L_ENST00000262659.8_Missense_Mutation_p.P38H			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	38								p.P38H(2)									AGCCGCCGGCCCCTGCACTCG	0.637																																						uc002wxf.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(112-114)CCC>CAC		hypothetical protein LOC140706							74.0	73.0	74.0					20																	30602789		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30602789C>A	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.113C>A	20.37:g.30602789C>A	ENSP00000300415:p.Pro38His						p.P38H	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN			2	126	+			38					Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.113C>A		.	.	.	.	.	.	.	.	.	.	C	27.8	4.861100	0.91433	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.60797	0.16;0.16	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.77164	0.4090	M	0.79926	2.475	0.58432	D	0.999992	D	0.89917	1.0	D	0.76575	0.988	T	0.81204	-0.1039	10	0.87932	D	0	-29.219	16.7122	0.85388	0.0:1.0:0.0:0.0	.	38	Q9NUG4-2	.	H	38	ENSP00000300415:P38H;ENSP00000262659:P38H	ENSP00000262659:P38H	P	+	2	0	C20orf160	30066450	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.154000	0.77437	2.418000	0.82041	0.655000	0.94253	CCC		PASS	0.637	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		10	42	10	42	---	---	---	---
SUN5	140732	broad.mit.edu	37	20	31590677	31590677	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:31590677G>A	ENST00000356173.3	-	2	218	c.126C>T	c.(124-126)tcC>tcT	p.S42S	SUN5_ENST00000375523.3_Silent_p.S42S|SUN5_ENST00000375519.2_Silent_p.S42S	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	42					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S42S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCATGTTTGGGGAGGTGTCCT	0.547																																						uc002wyi.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(124-126)TCC>TCT		sperm associated antigen 4-like							128.0	114.0	118.0					20																	31590677		2203	4300	6503	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31590677G>A	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.126C>T	20.37:g.31590677G>A							p.S42S	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			2	219	-			42					A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.126C>T	CCDS13209.1																																																																																				PASS	0.547	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		5	30	5	30	---	---	---	---
BPIFB2	80341	broad.mit.edu	37	20	31607502	31607502	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:31607502G>T	ENST00000170150.3	+	11	1221	c.1026G>T	c.(1024-1026)gaG>gaT	p.E342D		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	342						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.E342D(1)									CCTTCGTGGAGGTCCTGGCCA	0.642																																						uc002wyj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1024-1026)GAG>GAT		bactericidal/permeability-increasing							44.0	42.0	43.0					20																	31607502		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31607502G>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1026G>T	20.37:g.31607502G>T	ENSP00000170150:p.Glu342Asp						p.E342D	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			11	1220	+			342					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.1026G>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800382	0.31869	.	.	ENSG00000078898	ENST00000170150	T	0.09255	3.0	4.98	-5.63	0.02474	.	0.119041	0.37623	N	0.002010	T	0.07098	0.0180	L	0.49640	1.575	0.26239	N	0.978895	B	0.31256	0.316	B	0.35931	0.214	T	0.19224	-1.0312	10	0.40728	T	0.16	-17.6339	0.9375	0.01348	0.417:0.121:0.2163:0.2457	.	342	Q8N4F0	BPIB2_HUMAN	D	342	ENSP00000170150:E342D	ENSP00000170150:E342D	E	+	3	2	BPIFB2	31071163	0.994000	0.37717	0.918000	0.36340	0.771000	0.43674	-0.032000	0.12266	-0.573000	0.05998	-0.291000	0.09656	GAG		PASS	0.642	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		13	10	13	10	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31671497	31671497	+	Missense_Mutation	SNP	C	C	T	rs143050216	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:31671497C>T	ENST00000375483.3	+	3	494	c.494C>T	c.(493-495)gCg>gTg	p.A165V		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	165	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A126V(1)									GCCACTGGGGCGGTGGGCCCA	0.677													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15608	0.0		0.0	False		,,,				2504	0.0					uc010zue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)GCG>GTG		antimicrobial peptide RY2G5 precursor		C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	32.0	35.0	34.0		494	3.3	0.9	20	dbSNP_134	34	0,8600		0,0,4300	yes	missense	BPIFB4	NM_182519.2	64	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	165/615	31671497	3,13003	2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671497C>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.494C>T	20.37:g.31671497C>T	ENSP00000364632:p.Ala165Val						p.A165V	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	509	+			165			Gly-rich.		Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.494C>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117336	0.37339	6.81E-4	0.0	ENSG00000186191	ENST00000375483	T	0.01516	4.81	3.28	3.28	0.37604	.	0.000000	0.39544	N	0.001326	T	0.04452	0.0122	L	0.32530	0.975	0.28811	N	0.898242	D	0.76494	0.999	D	0.65874	0.939	T	0.10268	-1.0637	10	0.66056	D	0.02	-15.1342	10.1994	0.43073	0.0:1.0:0.0:0.0	.	165	P59827	BPIB4_HUMAN	V	165	ENSP00000364632:A165V	ENSP00000364632:A165V	A	+	2	0	BPIFB4	31135158	0.959000	0.32827	0.870000	0.34147	0.028000	0.11728	2.129000	0.42055	1.827000	0.53221	0.462000	0.41574	GCG		PASS	0.677	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		13	27	13	27	---	---	---	---
BPIFA3	128861	broad.mit.edu	37	20	31811649	31811649	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:31811649G>A	ENST00000375454.3	+	2	370	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.E54K	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	54						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.E54K(1)									GCACAACGCAGAAAGCCGAAT	0.542																																						uc002wyr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(160-162)GAA>AAA		short long palate, lung and nasal epithelium							116.0	96.0	103.0					20																	31811649		2203	4300	6503	SO:0001583	missense	128861					extracellular region	lipid binding	g.chr20:31811649G>A		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.160G>A	20.37:g.31811649G>A	ENSP00000364603:p.Glu54Lys					C20orf71_uc002wys.2_Missense_Mutation_p.E54K	p.E54K	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			2	368	+			54					Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	c.160G>A	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	G	9.890	1.203998	0.22205	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.37915	3.4;1.17	4.17	3.21	0.36854	.	0.000000	0.45606	D	0.000344	T	0.44912	0.1316	L	0.32530	0.975	0.09310	N	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	T	0.16335	-1.0406	10	0.59425	D	0.04	-19.5475	10.0662	0.42306	0.0:0.2043:0.7957:0.0	.	54;54	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	K	54	ENSP00000364603:E54K;ENSP00000364601:E54K	ENSP00000364601:E54K	E	+	1	0	BPIFA3	31275310	0.992000	0.36948	0.010000	0.14722	0.001000	0.01503	3.690000	0.54713	1.331000	0.45412	-0.175000	0.13238	GAA		PASS	0.542	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		9	83	9	83	---	---	---	---
BPIFB1	92747	broad.mit.edu	37	20	31873902	31873902	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:31873902C>G	ENST00000253354.1	+	2	184	c.23C>G	c.(22-24)aCc>aGc	p.T8S		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	8					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.T8S(1)									TGGACCTTCACCCTTCTCTGT	0.587																																						uc002wyw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)	4						c.(22-24)ACC>AGC		LPLUNC1 protein precursor							127.0	108.0	114.0					20																	31873902		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31873902C>G	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.23C>G	20.37:g.31873902C>G	ENSP00000253354:p.Thr8Ser					C20orf114_uc010gej.1_Missense_Mutation_p.T8S	p.T8S	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			2	184	+			8					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.23C>G	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	2.230	-0.376360	0.05000	.	.	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.31769	1.48;4.0	4.92	-2.28	0.06826	.	1.153170	0.06205	N	0.684074	T	0.27697	0.0681	M	0.63428	1.95	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.13407	0.009;0.009	T	0.31998	-0.9923	10	0.40728	T	0.16	-10.2675	5.8145	0.18486	0.0:0.3554:0.4008:0.2439	.	8;8	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	S	8	ENSP00000390471:T8S;ENSP00000253354:T8S	ENSP00000253354:T8S	T	+	2	0	BPIFB1	31337563	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.472000	0.06623	-0.431000	0.07307	-0.727000	0.03589	ACC		PASS	0.587	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		26	59	26	59	---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34242934	34242934	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:34242934C>A	ENST00000374114.3	-	3	574	c.311G>T	c.(310-312)aGa>aTa	p.R104I	CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.R104I|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397445.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R104I	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	104						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R104I(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TGGTCCTGATCTACTGGCATT	0.438											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002xdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(310-312)AGA>ATA		RNA binding motif protein 12							184.0	176.0	179.0					20																	34242934		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242934C>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.311G>T	20.37:g.34242934C>A	ENSP00000363228:p.Arg104Ile		OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	846	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.R104I|RBM12_uc002xds.2_Missense_Mutation_p.R104I	p.R104I	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	543	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		104					B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.311G>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352668	0.41700	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458;ENST00000431148;ENST00000435161	T;T;T;T;T;T	0.26518	2.36;2.36;2.36;1.73;2.09;2.12	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.03000	-1.1084	10	0.18710	T	0.47	-11.4333	19.4929	0.95059	0.0:1.0:0.0:0.0	.	104	Q9NTZ6	RBM12_HUMAN	I	104	ENSP00000363228:R104I;ENSP00000352668:R104I;ENSP00000363217:R104I;ENSP00000411036:R104I;ENSP00000392642:R104I;ENSP00000411692:R104I	ENSP00000352668:R104I	R	-	2	0	RBM12	33706348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.095000	0.76952	2.835000	0.97688	0.650000	0.86243	AGA		PASS	0.438	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		77	84	77	84	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41306547	41306547	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:41306547C>A	ENST00000373187.1	-	7	1111	c.1112G>T	c.(1111-1113)gGa>gTa	p.G371V	PTPRT_ENST00000373184.1_Missense_Mutation_p.G371V|PTPRT_ENST00000373190.1_Missense_Mutation_p.G371V|PTPRT_ENST00000373193.3_Missense_Mutation_p.G371V|PTPRT_ENST00000356100.2_Missense_Mutation_p.G371V|PTPRT_ENST00000373198.4_Missense_Mutation_p.G371V|PTPRT_ENST00000373201.1_Missense_Mutation_p.G371V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	371	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.G371V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCTGGCGGTCCCGTACCCCC	0.547																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(1111-1113)GGA>GTA		protein tyrosine phosphatase, receptor type, T							89.0	89.0	89.0					20																	41306547		1925	4130	6055	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306547C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1112G>T	20.37:g.41306547C>A	ENSP00000362283:p.Gly371Val					PTPRT_uc010ggj.2_Missense_Mutation_p.G371V	p.G371V	NM_007050	NP_008981	O14522	PTPRT_HUMAN			7	1296	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	371			Extracellular (Potential).|Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1112G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816983	0.90790	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94761	0.8309	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95236	0.8347	10	0.87932	D	0	.	19.1814	0.93625	0.0:1.0:0.0:0.0	.	371;371	O14522-1;O14522	.;PTPRT_HUMAN	V	371	ENSP00000362286:G371V;ENSP00000362283:G371V;ENSP00000362289:G371V;ENSP00000348408:G371V;ENSP00000362294:G371V;ENSP00000362280:G371V;ENSP00000362297:G371V	ENSP00000348408:G371V	G	-	2	0	PTPRT	40739961	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	7.776000	0.85560	2.705000	0.92388	0.655000	0.94253	GGA		PASS	0.547	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			22	100	22	100	---	---	---	---
MYBL2	4605	broad.mit.edu	37	20	42315650	42315650	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:42315650C>T	ENST00000217026.4	+	5	565	c.438C>T	c.(436-438)atC>atT	p.I146I	MYBL2_ENST00000396863.4_Silent_p.I122I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	146	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I146I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCGCATCATCTGCGAGGCCC	0.627																																						uc002xlb.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|kidney(2)	5						c.(436-438)ATC>ATT		MYB-related protein B							47.0	40.0	42.0					20																	42315650		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42315650C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.438C>T	20.37:g.42315650C>T						MYBL2_uc010zwj.1_Silent_p.I122I|MYBL2_uc002xla.1_Silent_p.I146I	p.I146I	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		5	653	+		Myeloproliferative disorder(115;0.00452)	146			HTH myb-type 3.		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.438C>T	CCDS13322.1																																																																																				PASS	0.627	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		11	24	11	24	---	---	---	---
ACOT8	10005	broad.mit.edu	37	20	44483870	44483870	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:44483870G>C	ENST00000217455.4	-	2	280	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	ZSWIM3_ENST00000255152.2_5'Flank|ZSWIM3_ENST00000454862.2_5'Flank	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	64					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.L64V(1)		kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GCAGCCACCAGGGCCTGGCCC	0.592																																						uc002xqa.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(190-192)CTG>GTG		peroxisomal acyl-CoA thioesterase 1 isoform a							110.0	105.0	107.0					20																	44483870		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44483870G>C	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.190C>G	20.37:g.44483870G>C	ENSP00000217455:p.Leu64Val					ACOT8_uc010zxe.1_Missense_Mutation_p.L64V|ACOT8_uc002xqc.1_Intron|ACOT8_uc010zxf.1_Intron|ZSWIM3_uc002xqd.2_5'Flank|ZSWIM3_uc010zxg.1_5'Flank	p.L64V	NM_005469	NP_005460	O14734	ACOT8_HUMAN			2	271	-		Myeloproliferative disorder(115;0.0122)	64					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.190C>G	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.09|18.09	3.546636|3.546636	0.65198|0.65198	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000217455;ENST00000426915;ENST00000372531|ENST00000457981	.|.	.|.	.|.	4.98|4.98	0.715|0.715	0.18186|0.18186	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72471|0.72471	0.3464|0.3464	M|M	0.83603|0.83603	2.65|2.65	0.58432|0.58432	D|D	0.999999|0.999999	P;D|.	0.52996|.	0.626;0.957|.	B;P|.	0.52823|.	0.383;0.71|.	T|T	0.72228|0.72228	-0.4354|-0.4354	9|5	0.66056|.	D|.	0.02|.	.|.	10.5076|10.5076	0.44842|0.44842	0.2732:0.0:0.7268:0.0|0.2732:0.0:0.7268:0.0	.|.	64;64|.	B4DLF4;O14734|.	.;ACOT8_HUMAN|.	V|R	64;62;64|24	.|.	ENSP00000217455:L64V|.	L|P	-|-	1|2	2|0	ACOT8|ACOT8	43917277|43917277	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	3.309000|3.309000	0.51903|0.51903	0.290000|0.290000	0.22444|0.22444	0.561000|0.561000	0.74099|0.74099	CTG|CCT		PASS	0.592	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		13	73	13	73	---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	45016067	45016067	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:45016067C>G	ENST00000290246.6	-	8	629	c.435G>C	c.(433-435)gaG>gaC	p.E145D	ELMO2_ENST00000372176.1_Missense_Mutation_p.E57D|ELMO2_ENST00000352077.2_Missense_Mutation_p.E143D|ELMO2_ENST00000396391.1_Missense_Mutation_p.E145D|ELMO2_ENST00000445496.2_Intron|ELMO2_ENST00000488853.1_Intron|ELMO2_ENST00000439931.2_Missense_Mutation_p.E145D	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	145					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)	p.E145D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATGCCAGCATCTCACTGTAGC	0.468																																						uc002xrt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)GAG>GAC		engulfment and cell motility 2							81.0	63.0	69.0					20																	45016067		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45016067C>G	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.435G>C	20.37:g.45016067C>G	ENSP00000290246:p.Glu145Asp					ELMO2_uc002xru.1_Missense_Mutation_p.E145D|ELMO2_uc010zxr.1_Missense_Mutation_p.E145D|ELMO2_uc010zxs.1_Intron|ELMO2_uc002xrw.2_5'Flank|ELMO2_uc002xrx.1_Missense_Mutation_p.E145D	p.E145D	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			8	645	-		Myeloproliferative disorder(115;0.0122)	145					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.435G>C	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678230	0.29783	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.18	4.24	0.50183	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	L	0.31926	0.97	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.20384	0.029;0.029	T	0.08659	-1.0711	10	0.21014	T	0.42	-33.6469	16.0519	0.80769	0.0:0.9284:0.0:0.0716	.	145;145	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	D	145;57;145;145;143;145	ENSP00000290246:E145D;ENSP00000361249:E57D;ENSP00000379673:E145D;ENSP00000396519:E145D;ENSP00000326172:E143D;ENSP00000416181:E145D	ENSP00000290246:E145D	E	-	3	2	ELMO2	44449474	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.898000	0.28404	0.771000	0.33359	-1.128000	0.01989	GAG		PASS	0.468	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		17	24	17	24	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47990134	47990134	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:47990134C>T	ENST00000371741.4	-	2	2129	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	655					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.E655K(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TTGGGGCTCTCGATGAAGAAA	0.567																																						uc002xur.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1963-1965)GAG>AAG		potassium voltage-gated channel, Shab-related							51.0	52.0	51.0					20																	47990134		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990134C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1963G>A	20.37:g.47990134C>T	ENSP00000360806:p.Glu655Lys					KCNB1_uc002xus.1_Missense_Mutation_p.E655K	p.E655K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2127	-			655			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1963G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505934	0.44558	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.38887	1.11	5.7	5.7	0.88788	.	1.561450	0.03111	N	0.162523	T	0.68668	0.3026	M	0.71581	2.175	0.45490	D	0.998458	D	0.65815	0.995	P	0.59115	0.852	T	0.55829	-0.8079	10	0.72032	D	0.01	.	19.4319	0.94775	0.0:1.0:0.0:0.0	.	655	Q14721	KCNB1_HUMAN	K	655;610	ENSP00000360806:E655K	ENSP00000360806:E655K	E	-	1	0	KCNB1	47423541	1.000000	0.71417	0.957000	0.39632	0.510000	0.34073	4.806000	0.62569	2.692000	0.91855	0.655000	0.94253	GAG		PASS	0.567	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		17	56	17	56	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50776752	50776752	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:50776752G>A	ENST00000216923.4	-	5	1022	c.673C>T	c.(673-675)Cac>Tac	p.H225Y	ZFP64_ENST00000371515.4_Missense_Mutation_p.H223Y|ZFP64_ENST00000346617.4_Missense_Mutation_p.H171Y|ZFP64_ENST00000361387.2_Missense_Mutation_p.H225Y|ZFP64_ENST00000371518.2_Missense_Mutation_p.H225Y|ZFP64_ENST00000477786.1_5'UTR	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	225					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.H225Y(3)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGTCCGAGTGGATCCTCAGG	0.617																																						uc002xwl.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(673-675)CAC>TAC		zinc finger protein 64 isoform a							137.0	134.0	135.0					20																	50776752		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50776752G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.673C>T	20.37:g.50776752G>A	ENSP00000216923:p.His225Tyr					ZFP64_uc002xwk.2_Missense_Mutation_p.H225Y|ZFP64_uc002xwm.2_Missense_Mutation_p.H223Y|ZFP64_uc002xwn.2_Missense_Mutation_p.H171Y	p.H225Y	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			5	1022	-			225			C2H2-type 2.		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.673C>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852508	0.91355	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.93	4.98	0.66077	Zinc finger, C2H2-like (2);Zinc finger, C2H2 (4);Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.108661	0.40554	N	0.001074	D	0.84692	0.5528	M	0.90650	3.135	0.58432	D	0.999997	D;D;D;B	0.76494	0.995;0.999;0.999;0.032	D;D;D;B	0.87578	0.995;0.998;0.998;0.028	D	0.88175	0.2867	10	0.87932	D	0	-20.7281	14.9935	0.71412	0.068:0.0:0.932:0.0	.	171;223;225;225	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	Y	225;225;225;171;223;67;378	ENSP00000360573:H225Y;ENSP00000355179:H225Y;ENSP00000216923:H225Y;ENSP00000344615:H171Y;ENSP00000360570:H223Y	ENSP00000216923:H225Y	H	-	1	0	ZFP64	50210159	1.000000	0.71417	0.809000	0.32408	0.912000	0.54170	9.869000	0.99810	1.518000	0.48934	0.655000	0.94253	CAC		PASS	0.617	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		47	51	47	51	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55027043	55027043	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:55027043G>T	ENST00000360314.3	+	6	1036	c.811G>T	c.(811-813)Gct>Tct	p.A271S	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.A271S	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	271					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.A271S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAGGCCCCACGCTCTCCCCAG	0.507																																						uc002xxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(811-813)GCT>TCT		HEF-like protein isoform a							64.0	68.0	67.0					20																	55027043		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027043G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.811G>T	20.37:g.55027043G>T	ENSP00000353462:p.Ala271Ser					CASS4_uc002xxq.3_Missense_Mutation_p.A271S|CASS4_uc002xxr.2_Missense_Mutation_p.A271S|CASS4_uc010zze.1_Missense_Mutation_p.A217S|CASS4_uc010gio.2_Intron	p.A271S	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1036	+			271					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.811G>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	4.249	0.045271	0.08196	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.12879	2.64;2.64	5.33	-5.51	0.02568	.	0.889922	0.09654	N	0.773261	T	0.07052	0.0179	L	0.40543	1.245	0.09310	N	1	B;B;B	0.18610	0.017;0.029;0.017	B;B;B	0.18263	0.014;0.021;0.006	T	0.45469	-0.9259	10	0.08381	T	0.77	0.2269	2.6329	0.04950	0.4317:0.1839:0.2846:0.0998	.	217;271;271	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	S	271	ENSP00000353462:A271S;ENSP00000360387:A271S	ENSP00000353462:A271S	A	+	1	0	CASS4	54460450	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.645000	0.24782	-1.341000	0.02225	-1.008000	0.02478	GCT		PASS	0.507	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		25	27	25	27	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099117	56099117	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:56099117C>A	ENST00000608263.1	-	1	806	c.145G>T	c.(145-147)Gcc>Tcc	p.A49S	CTCFL_ENST00000371196.2_Missense_Mutation_p.A49S|CTCFL_ENST00000429804.3_Missense_Mutation_p.A49S|CTCFL_ENST00000608440.1_Missense_Mutation_p.A49S|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000432255.2_Missense_Mutation_p.A49S|CTCFL_ENST00000422869.2_Missense_Mutation_p.A49S|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Missense_Mutation_p.A49S|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.A49S|CTCFL_ENST00000481655.2_Missense_Mutation_p.A49S|CTCFL_ENST00000608425.1_Missense_Mutation_p.A49S|CTCFL_ENST00000423479.3_Missense_Mutation_p.A49S|CTCFL_ENST00000608158.1_Missense_Mutation_p.A49S|CTCFL_ENST00000608858.1_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	49					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.A49S(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTACGCTCGGCCTCCAACTCA	0.577																																						uc010gix.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(145-147)GCC>TCC		CCCTC-binding factor-like protein							161.0	175.0	171.0					20																	56099117		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099117C>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.145G>T	20.37:g.56099117C>A	ENSP00000476783:p.Ala49Ser					CTCFL_uc010giw.1_Missense_Mutation_p.A49S|CTCFL_uc002xym.2_Missense_Mutation_p.A49S|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.A49S|CTCFL_uc010gjb.1_Missense_Mutation_p.A49S|CTCFL_uc010gjc.1_Missense_Mutation_p.A49S|CTCFL_uc010gjd.1_Missense_Mutation_p.A49S|CTCFL_uc010gje.2_Missense_Mutation_p.A49S|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.A49S|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.A49S|CTCFL_uc010gjk.1_Missense_Mutation_p.A49S|CTCFL_uc010gjl.1_Missense_Mutation_p.A49S	p.A49S	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	807	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		49					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.145G>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124518	0.56613	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.13538	2.58;2.64;2.64;2.77;2.7;2.94;2.67;3.19;2.7	4.39	2.39	0.29439	.	0.502966	0.16627	N	0.206209	T	0.22975	0.0555	L	0.57536	1.79	0.09310	N	1	P;P;P;D;P;P;P;P	0.67145	0.798;0.798;0.941;0.996;0.798;0.941;0.798;0.58	B;B;P;P;B;P;B;B	0.57620	0.374;0.374;0.453;0.824;0.3;0.453;0.3;0.196	T	0.05068	-1.0908	10	0.42905	T	0.14	-9.7344	7.0462	0.25046	0.0:0.729:0.1743:0.0967	.	49;49;49;49;49;49;49;49	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	S	49	ENSP00000415579:A49S;ENSP00000243914:A49S;ENSP00000360239:A49S;ENSP00000415329:A49S;ENSP00000392034:A49S;ENSP00000413713:A49S;ENSP00000403369:A49S;ENSP00000409344:A49S;ENSP00000399061:A49S	ENSP00000243914:A49S	A	-	1	0	CTCFL	55532523	0.001000	0.12720	0.007000	0.13788	0.022000	0.10575	0.946000	0.29069	0.445000	0.26639	0.655000	0.94253	GCC		PASS	0.577	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		79	121	79	121	---	---	---	---
STX16	8675	broad.mit.edu	37	20	57242623	57242623	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:57242623A>G	ENST00000371141.4	+	3	946	c.222A>G	c.(220-222)ccA>ccG	p.P74P	STX16-NPEPL1_ENST00000530122.1_Silent_p.P74P|STX16_ENST00000361830.3_Silent_p.P74P|STX16_ENST00000355957.5_Silent_p.P57P|STX16_ENST00000359617.4_Silent_p.P21P|STX16_ENST00000361770.5_Silent_p.P57P|STX16_ENST00000358029.4_Silent_p.P70P|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000371132.4_Silent_p.P53P	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	74					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.P53P(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CAAAACGGCCACCTCCTAAGT	0.418																																						uc002xzi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(220-222)CCA>CCG		syntaxin 16 isoform a							145.0	134.0	138.0					20																	57242623		2203	4300	6503	SO:0001819	synonymous_variant	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57242623A>G	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.222A>G	20.37:g.57242623A>G						STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Silent_p.P57P|STX16_uc002xzm.2_Silent_p.P70P|STX16_uc002xzj.2_Silent_p.P53P|STX16_uc002xzl.2_5'UTR	p.P74P	NM_001001433	NP_001001433	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		3	957	+	all_lung(29;0.0175)		74			Cytoplasmic (Potential).		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Silent	SNP	ENST00000371141.4	37	c.222A>G	CCDS13468.1																																																																																				PASS	0.418	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		10	33	10	33	---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60503462	60503462	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:60503462G>T	ENST00000360469.5	+	12	2074	c.1986G>T	c.(1984-1986)tgG>tgT	p.W662C	CDH4_ENST00000543233.1_Missense_Mutation_p.W588C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	662	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W662C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAAGAACTGGACCATCACCC	0.672																																						uc002ybn.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(1984-1986)TGG>TGT		cadherin 4, type 1 preproprotein							51.0	51.0	51.0					20																	60503462		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60503462G>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1986G>T	20.37:g.60503462G>T	ENSP00000353656:p.Trp662Cys					CDH4_uc002ybp.1_Missense_Mutation_p.W588C	p.W662C	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		12	2000	+			662			Extracellular (Potential).|Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1986G>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952391	0.73787	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.61510	0.1;0.1	4.68	4.68	0.58851	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88642	0.3176	9	.	.	.	.	17.5703	0.87933	0.0:0.0:1.0:0.0	.	662	P55283	CADH4_HUMAN	C	662;570;588	ENSP00000353656:W662C;ENSP00000443301:W588C	.	W	+	3	0	CDH4	59936857	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.503000	0.97984	2.131000	0.65755	0.655000	0.94253	TGG		PASS	0.672	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		16	19	16	19	---	---	---	---
C20orf166-AS1	253868	broad.mit.edu	37	20	61143700	61143700	+	RNA	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:61143700G>T	ENST00000475015.1	-	0	638				C20orf166-AS1_ENST00000436101.1_RNA|C20orf166-AS1_ENST00000412495.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1									p.P50T(1)									AGACCGGATGGTGTGGCCCCG	0.662																																						uc002ycz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)CCA>ACA		hypothetical protein LOC253868							60.0	58.0	59.0					20																	61143700		2203	4299	6502			253868							g.chr20:61143700G>T	AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143700G>T						C20orf200_uc002ycy.2_RNA	p.P50T	NM_152757	NP_689970			BRCA - Breast invasive adenocarcinoma(19;7.17e-06)		3	639	-	Breast(26;2.05e-08)							Q52LN1	Missense_Mutation	SNP	ENST00000475015.1	37	c.148C>A																																																																																					PASS	0.662	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263		8	19	8	19	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62842683	62842683	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr20:62842683C>T	ENST00000328439.1	+	8	1780	c.1416C>T	c.(1414-1416)atC>atT	p.I472I	MYT1_ENST00000536311.1_Silent_p.I472I|MYT1_ENST00000360149.4_Silent_p.I174I	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I472I(1)|p.E475fs*7(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGATAGGATCCCCCCAGAGA	0.587																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2																			2	Substitution - coding silent(1)|Insertion - Frameshift(1)		large_intestine(1)|lung(1)	ovary(2)	2						c.(1414-1416)ATC>ATT		myelin transcription factor 1							120.0	95.0	103.0					20																	62842683		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62842683C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1416C>T	20.37:g.62842683C>T						MYT1_uc002yih.2_Silent_p.I174I|MYT1_uc002yij.2_Silent_p.I104I	p.I472I	NM_004535	NP_004526	Q01538	MYT1_HUMAN			8	1780	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		472					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1416C>T	CCDS13558.1																																																																																				PASS	0.587	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		36	56	36	56	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10910396	10910396	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr21:10910396G>T	ENST00000361285.4	-	22	1689	c.1360C>A	c.(1360-1362)Ctt>Att	p.L454I	TPTE_ENST00000298232.7_Missense_Mutation_p.L436I|TPTE_ENST00000342420.5_Missense_Mutation_p.L416I|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	454	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L436I(1)|p.L454I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGTTATCAAGTACCTATGAA	0.318																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1360-1362)CTT>ATT		transmembrane phosphatase with tensin homology							202.0	177.0	185.0					21																	10910396		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10910396G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1360C>A	21.37:g.10910396G>T	ENSP00000355208:p.Leu454Ile					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L436I|TPTE_uc002yir.1_Missense_Mutation_p.L416I|TPTE_uc010gkv.1_Missense_Mutation_p.L316I	p.L454I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	22	1728	-			454			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1360C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	2.769	-0.256212	0.05829	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85556	-2.0;-2.0;-2.0	2.25	-1.87	0.07737	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.224745	0.46442	D	0.000286	T	0.67144	0.2862	N	0.16478	0.41	0.09310	N	1	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.15870	0.008;0.008;0.014	T	0.51403	-0.8710	10	0.17832	T	0.49	-0.0188	7.6243	0.28204	0.4405:0.0:0.5595:0.0	.	416;436;454	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	436;454;416	ENSP00000298232:L436I;ENSP00000355208:L454I;ENSP00000344441:L416I	ENSP00000298232:L436I	L	-	1	0	TPTE	9932267	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-1.123000	0.03263	-0.914000	0.03827	-1.451000	0.01035	CTT		PASS	0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			12	87	12	87	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15554098	15554098	+	Silent	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr21:15554098G>C	ENST00000536861.1	-	4	623	c.624C>G	c.(622-624)gtC>gtG	p.V208V	LIPI_ENST00000344577.2_Silent_p.V229V			Q6XZB0	LIPI_HUMAN	lipase, member I	208					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.V229V(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CAGAATGGATGACATCCACAA	0.403																																						uc002yjm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(685-687)GTC>GTG		lipase, member I							100.0	93.0	95.0					21																	15554098		2203	4300	6503	SO:0001819	synonymous_variant	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15554098G>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.624C>G	21.37:g.15554098G>C						LIPI_uc010gkw.1_Silent_p.V162V	p.V229V	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	4	697	-			208					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Silent	SNP	ENST00000536861.1	37	c.687C>G		.	.	.	.	.	.	.	.	.	.	G	3.164	-0.171532	0.06421	.	.	ENSG00000188992	ENST00000400211	.	.	.	5.46	3.61	0.41365	.	.	.	.	.	T	0.47340	0.1440	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42103	-0.9471	4	.	.	.	.	3.7795	0.08674	0.149:0.1306:0.586:0.1344	.	.	.	.	D	88	.	.	H	-	1	0	LIPI	14475969	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	0.600000	0.24104	1.421000	0.47157	0.655000	0.94253	CAT		PASS	0.403	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		3	19	3	19	---	---	---	---
JAM2	58494	broad.mit.edu	37	21	27066164	27066164	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr21:27066164C>A	ENST00000480456.1	+	4	888	c.338C>A	c.(337-339)gCc>gAc	p.A113D	JAM2_ENST00000400532.1_Missense_Mutation_p.A113D|JAM2_ENST00000425221.2_Missense_Mutation_p.A77D|JAM2_ENST00000312957.5_Missense_Mutation_p.A113D	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	113	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A113D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GAAGTTAGTGCCCCATCTGAG	0.428																																						uc002ylp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)GCC>GAC		junctional adhesion molecule 2 precursor							181.0	186.0	184.0					21																	27066164		2030	4170	6200	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27066164C>A	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.338C>A	21.37:g.27066164C>A	ENSP00000420419:p.Ala113Asp					JAM2_uc011ace.1_Missense_Mutation_p.A113D|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.A77D|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.A113D|JAM2_uc010gli.1_Missense_Mutation_p.A113D	p.A113D	NM_021219	NP_067042	P57087	JAM2_HUMAN			4	883	+			113			Ig-like V-type.|Extracellular (Potential).		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.338C>A	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511768	0.64522	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.56	3.56	0.40772	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.154190	0.56097	D	0.000022	T	0.35158	0.0922	L	0.33485	1.01	0.43054	D	0.994663	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.991;0.997	D;D;D;P;D	0.72982	0.939;0.979;0.979;0.864;0.956	T	0.11941	-1.0567	10	0.62326	D	0.03	.	9.0817	0.36556	0.0:0.8115:0.0:0.1885	.	77;113;113;113;113	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	D	113;113;113;113;113;77	ENSP00000420419:A113D;ENSP00000383376:A113D;ENSP00000318416:A113D;ENSP00000392611:A77D	ENSP00000318416:A113D	A	+	2	0	JAM2	25988035	0.721000	0.28007	0.742000	0.31022	0.984000	0.73092	2.020000	0.41010	1.516000	0.48900	0.655000	0.94253	GCC		PASS	0.428	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			12	48	12	48	---	---	---	---
GABPA	2551	broad.mit.edu	37	21	27141330	27141330	+	Silent	SNP	G	G	T	rs372224151		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr21:27141330G>T	ENST00000354828.3	+	10	1679	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	GABPA_ENST00000400075.3_Silent_p.G384G	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	384					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|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 regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.G384G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ATTACGATGGGGACATGATTT	0.348																																						uc002ylx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1150-1152)GGG>GGT		GA binding protein transcription factor, alpha							80.0	85.0	83.0					21																	27141330		2203	4299	6502	SO:0001819	synonymous_variant	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27141330G>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1152G>T	21.37:g.27141330G>T						GABPA_uc002yly.3_Silent_p.G384G	p.G384G	NM_002040	NP_002031	Q06546	GABPA_HUMAN			10	1679	+			384			ETS.		Q12939	Silent	SNP	ENST00000354828.3	37	c.1152G>T	CCDS13575.1																																																																																				PASS	0.348	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		14	57	14	57	---	---	---	---
APP	351	broad.mit.edu	37	21	27372439	27372439	+	Nonsense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr21:27372439G>C	ENST00000346798.3	-	7	957	c.924C>G	c.(922-924)taC>taG	p.Y308*	APP_ENST00000439274.2_Nonsense_Mutation_p.Y252*|APP_ENST00000354192.3_Intron|APP_ENST00000359726.3_Intron|APP_ENST00000357903.3_Nonsense_Mutation_p.Y308*|APP_ENST00000440126.3_Nonsense_Mutation_p.Y303*|APP_ENST00000348990.5_Intron|APP_ENST00000358918.3_Nonsense_Mutation_p.Y308*|APP_ENST00000448388.2_Intron	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	308	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.Y308*(1)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCACATCAAAGTACCAGCGGG	0.532																																						uc002ylz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(922-924)TAC>TAG		amyloid beta A4 protein isoform a precursor							100.0	83.0	89.0					21																	27372439		2203	4300	6503	SO:0001587	stop_gained	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27372439G>C	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.924C>G	21.37:g.27372439G>C	ENSP00000284981:p.Tyr308*					APP_uc010glk.2_Nonsense_Mutation_p.Y303*|APP_uc002yma.2_Nonsense_Mutation_p.Y308*|APP_uc011ach.1_Nonsense_Mutation_p.Y252*|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron	p.Y308*	NM_000484	NP_000475	P05067	A4_HUMAN			7	1124	-		Breast(209;0.00295)	308			Extracellular (Potential).|BPTI/Kunitz inhibitor.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Nonsense_Mutation	SNP	ENST00000346798.3	37	c.924C>G	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.539533|6.539533	0.97646|0.97646	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000448850|ENST00000346798;ENST00000357903;ENST00000358918;ENST00000440126;ENST00000439274	.|.	.|.	.|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.133970	.|0.52532	.|D	.|0.000073	T|.	0.33294|.	0.0858|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17899|.	-1.0354|.	4|.	.|0.02654	.|T	.|1	-20.5258|-20.5258	11.7045|11.7045	0.51590|0.51590	0.0811:0.0:0.9189:0.0|0.0811:0.0:0.9189:0.0	.|.	.|.	.|.	.|.	V|X	230|308;308;308;303;252	.|.	.|ENSP00000284981:Y308X	L|Y	-|-	1|3	0|2	APP|APP	26294310|26294310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.252000|6.252000	0.72447|0.72447	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	CTT|TAC		PASS	0.532	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		4	13	4	13	---	---	---	---
SON	6651	broad.mit.edu	37	21	34924260	34924260	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr21:34924260C>T	ENST00000356577.4	+	3	3198	c.2723C>T	c.(2722-2724)tCa>tTa	p.S908L	SON_ENST00000290239.6_Missense_Mutation_p.S908L|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.S908L|SON_ENST00000381679.4_Missense_Mutation_p.S908L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	908					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S908L(4)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATGTTGGGTTCAAAATCTCCT	0.473																																						uc002yse.1																			4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(2)	6						c.(2722-2724)TCA>TTA		SON DNA-binding protein isoform F							63.0	60.0	61.0					21																	34924260		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34924260C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2723C>T	21.37:g.34924260C>T	ENSP00000348984:p.Ser908Leu					SON_uc002ysb.1_Missense_Mutation_p.S908L|SON_uc002ysc.2_Missense_Mutation_p.S908L|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.S908L	NM_138927	NP_620305	P18583	SON_HUMAN			3	2772	+			908					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2723C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248466	0.59103	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.13420	2.78;2.78;2.77;2.59	6.01	6.01	0.97437	.	0.155853	0.30519	N	0.009456	T	0.20210	0.0486	L	0.44542	1.39	0.33056	D	0.533364	D;D;B	0.63880	0.988;0.993;0.216	P;P;B	0.53102	0.714;0.718;0.254	T	0.03587	-1.1022	10	0.10902	T	0.67	.	16.0817	0.81010	0.0:1.0:0.0:0.0	.	908;908;908	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	L	908	ENSP00000348984:S908L;ENSP00000290239:S908L;ENSP00000300278:S908L;ENSP00000371095:S908L	ENSP00000290239:S908L	S	+	2	0	SON	33846130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.114000	0.50383	2.873000	0.98535	0.644000	0.83932	TCA		PASS	0.473	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		7	15	7	15	---	---	---	---
KRTAP10-4	386672	broad.mit.edu	37	21	45994747	45994747	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr21:45994747C>A	ENST00000400374.3	+	1	1142	c.1112C>A	c.(1111-1113)cCc>cAc	p.P371H	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	371	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P371H(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGTGCAGGCCCGCCTGCTGC	0.692																																						uc002zfk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)CCC>CAC		keratin associated protein 10-4							63.0	79.0	74.0					21																	45994747		2203	4300	6503	SO:0001583	missense	386672					keratin filament		g.chr21:45994747C>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.1112C>A	21.37:g.45994747C>A	ENSP00000383225:p.Pro371His					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P371H	NM_198687	NP_941960	P60372	KR104_HUMAN			1	1142	+			371			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.1112C>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	c	11.62	1.692600	0.30052	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.04809	3.55	4.39	3.5	0.40072	.	.	.	.	.	T	0.18425	0.0442	M	0.79475	2.455	0.09310	N	0.999998	D	0.76494	0.999	D	0.70487	0.969	T	0.03534	-1.1027	9	0.62326	D	0.03	.	8.4437	0.32830	0.0:0.8895:0.0:0.1105	.	371	P60372	KR104_HUMAN	H	371;167	ENSP00000383225:P371H	ENSP00000333987:P167H	P	+	2	0	KRTAP10-4	44819175	0.089000	0.21612	0.019000	0.16419	0.665000	0.39181	3.131000	0.50515	0.956000	0.37904	0.563000	0.77884	CCC		PASS	0.692	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		17	60	17	60	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46925829	46925829	+	Silent	SNP	C	C	T	rs542663933		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr21:46925829C>T	ENST00000359759.4	+	36	4431	c.4410C>T	c.(4408-4410)gcC>gcT	p.A1470A	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.A1055A|COL18A1_ENST00000355480.5_Silent_p.A1235A			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1470	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.A1235A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCTTCGTGGCCGAGCAGGAGG	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11742	0.0		0.0	False		,,,				2504	0.0					uc011afs.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(4399-4401)GCC>GCT		alpha 1 type XVIII collagen isoform 3 precursor							83.0	98.0	93.0					21																	46925829		2095	4190	6285	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46925829C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4410C>T	21.37:g.46925829C>T						COL18A1_uc002zhg.2_Silent_p.A1052A|COL18A1_uc002zhi.2_Silent_p.A1232A|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_Silent_p.A33A|COL18A1_uc002zhk.2_5'Flank	p.A1467A	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	37	4422	+			1470			Nonhelical region 11 (NC11).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.4401C>T		.	.	.	.	.	.	.	.	.	.	C	10.19	1.282474	0.23392	.	.	ENSG00000182871	ENST00000423214	.	.	.	3.93	-6.09	0.02145	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	T	0.41305	-0.9516	4	.	.	.	.	2.3851	0.04364	0.119:0.1491:0.2362:0.4957	.	.	.	.	L	51	.	.	P	+	2	0	COL18A1	45750257	0.000000	0.05858	0.224000	0.23877	0.912000	0.54170	-6.208000	0.00076	-0.801000	0.04427	0.491000	0.48974	CCG		PASS	0.657	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			6	26	6	26	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47836082	47836082	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr21:47836082A>T	ENST00000359568.5	+	30	6357	c.6250A>T	c.(6250-6252)Atg>Ttg	p.M2084L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2084					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.M2084L(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCTGTATTCCATGACCTTCCA	0.507																																						uc002zji.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(6250-6252)ATG>TTG		pericentrin							91.0	85.0	87.0					21																	47836082		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47836082A>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6250A>T	21.37:g.47836082A>T	ENSP00000352572:p.Met2084Leu					PCNT_uc002zjj.2_Missense_Mutation_p.M1966L	p.M2084L	NM_006031	NP_006022	O95613	PCNT_HUMAN			30	6357	+	Breast(49;0.112)		2084					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.6250A>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.258378	0.23051	.	.	ENSG00000160299	ENST00000359568	T	0.01430	4.9	5.25	-7.44	0.01379	.	.	.	.	.	T	0.00845	0.0028	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.49744	-0.8907	9	0.02654	T	1	.	7.9803	0.30179	0.3432:0.2244:0.4324:0.0	.	1966;2084	O95613-2;O95613	.;PCNT_HUMAN	L	2084	ENSP00000352572:M2084L	ENSP00000352572:M2084L	M	+	1	0	PCNT	46660510	0.025000	0.19082	0.000000	0.03702	0.006000	0.05464	0.040000	0.13905	-1.320000	0.02283	-0.912000	0.02778	ATG		PASS	0.507	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	19	6	19	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47918562	47918562	+	Silent	SNP	C	C	A	rs372839046		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr21:47918562C>A	ENST00000417564.2	+	5	492	c.471C>A	c.(469-471)ctC>ctA	p.L157L	DIP2A_ENST00000466639.1_Silent_p.L157L|DIP2A_ENST00000435722.3_Silent_p.L157L|DIP2A_ENST00000427143.2_Silent_p.L93L|DIP2A_ENST00000318711.7_Silent_p.L157L|DIP2A_ENST00000457905.3_Silent_p.L157L|DIP2A_ENST00000400274.1_Silent_p.L157L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	157					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.L157L(2)|p.L93L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCACTCCGCTCCAGAGCCATT	0.592																																						uc002zjo.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(469-471)CTC>CTA		disco-interacting protein 2A isoform a							98.0	116.0	110.0					21																	47918562		2100	4204	6304	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918562C>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.471C>A	21.37:g.47918562C>A						DIP2A_uc011afy.1_Silent_p.L93L|DIP2A_uc011afz.1_Silent_p.L157L|DIP2A_uc002zjl.2_Silent_p.L157L|DIP2A_uc002zjm.2_Silent_p.L157L|DIP2A_uc010gql.2_Silent_p.L157L|DIP2A_uc002zjn.2_Silent_p.L157L	p.L157L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	5	654	+	Breast(49;0.0933)		157					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.471C>A	CCDS46655.1																																																																																				PASS	0.592	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		15	74	15	74	---	---	---	---
GAB4	128954	broad.mit.edu	37	22	17447154	17447154	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:17447154G>T	ENST00000400588.1	-	6	1231	c.1124C>A	c.(1123-1125)gCa>gAa	p.A375E	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	375								p.A375E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ATCATCGCCTGCTTGCTTCAC	0.582																																						uc002zlw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1123-1125)GCA>GAA		GRB2-associated binding protein family, member							46.0	52.0	50.0					22																	17447154		2023	4194	6217	SO:0001583	missense	128954							g.chr22:17447154G>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1124C>A	22.37:g.17447154G>T	ENSP00000383431:p.Ala375Glu					GAB4_uc010gqs.1_3'UTR	p.A375E	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			6	1232	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	375						Missense_Mutation	SNP	ENST00000400588.1	37	c.1124C>A	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	4.144	0.025095	0.08054	.	.	ENSG00000215568	ENST00000400588	T	0.16597	2.33	2.96	1.75	0.24633	.	1.184340	0.06061	N	0.658303	T	0.13927	0.0337	L	0.27053	0.805	0.09310	N	0.999993	D	0.59357	0.985	P	0.50270	0.636	T	0.17228	-1.0376	10	0.07813	T	0.8	.	3.7098	0.08416	0.1536:0.2617:0.5847:0.0	.	375	Q2WGN9	GAB4_HUMAN	E	375	ENSP00000383431:A375E	ENSP00000383431:A375E	A	-	2	0	GAB4	15827154	0.317000	0.24589	0.384000	0.26145	0.020000	0.10135	2.160000	0.42348	1.582000	0.49881	0.411000	0.27672	GCA		PASS	0.582	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		13	14	13	14	---	---	---	---
CLDN5	7122	broad.mit.edu	37	22	19511547	19511547	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:19511547G>T	ENST00000406028.1	-	2	1547	c.487C>A	c.(487-489)Cag>Aag	p.Q163K	CLDN5_ENST00000413119.2_Missense_Mutation_p.Q163K|CLDN5_ENST00000403084.1_Missense_Mutation_p.Q163K			O00501	CLD5_HUMAN	claudin 5	78					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.Q78K(1)|p.Q163K(1)		liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					CGCGCCGCCTGCACCTCGGTG	0.697																																						uc002zpu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(487-489)CAG>AAG		claudin 5							16.0	15.0	15.0					22																	19511547		2195	4296	6491	SO:0001583	missense	7122				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr22:19511547G>T	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"""Claudins"""	2047	protein-coding gene	gene with protein product		602101	"""transmembrane protein deleted in velocardiofacial syndrome"""	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.487C>A	22.37:g.19511547G>T	ENSP00000385477:p.Gln163Lys					CLDN5_uc010grr.2_Missense_Mutation_p.Q163K	p.Q163K	NM_003277	NP_003268	O00501	CLD5_HUMAN			2	702	-	Colorectal(54;0.0993)		78			Extracellular (Potential).		B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	c.487C>A	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977920	0.92982	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.89050	-2.46;-2.46;-2.46	4.96	4.96	0.65561	.	0.061066	0.64402	D	0.000003	D	0.94739	0.8302	M	0.87381	2.88	0.80722	D	1	D	0.55605	0.972	D	0.64042	0.921	D	0.95563	0.8631	10	0.72032	D	0.01	.	17.184	0.86862	0.0:0.0:1.0:0.0	.	163	D3DX19	.	K	163	ENSP00000385477:Q163K;ENSP00000384554:Q163K;ENSP00000400612:Q163K	ENSP00000384554:Q163K	Q	-	1	0	CLDN5	17891547	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.776000	0.99001	2.315000	0.78130	0.462000	0.41574	CAG		PASS	0.697	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3	NM_003277		10	8	10	8	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21096603	21096603	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:21096603G>A	ENST00000572273.1	-	32	3710	c.3480C>T	c.(3478-3480)ccC>ccT	p.P1160P	PI4KA_ENST00000255882.6_Silent_p.P1218P			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1160					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.P1160P(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACATCCGGAGGGGACCCCAGC	0.587											OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - coding silent(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(3478-3480)CCC>CCT		phosphatidylinositol 4-kinase type 3 alpha							94.0	98.0	97.0					22																	21096603		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21096603G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3480C>T	22.37:g.21096603G>A			OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	745		p.P1160P	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		32	3711	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1160					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.3480C>T																																																																																					PASS	0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		35	92	35	92	---	---	---	---
CRKL	1399	broad.mit.edu	37	22	21288526	21288526	+	Silent	SNP	A	A	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:21288526A>C	ENST00000354336.3	+	2	1280	c.771A>C	c.(769-771)gcA>gcC	p.A257A		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	257	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.A257A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CTGCCTTGGCATTAGAGGTAA	0.393																																					Pancreas(85;3 1441 23889 42519 42763)	uc002ztf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(769-771)GCA>GCC		v-crk sarcoma virus CT10 oncogene homolog							54.0	51.0	52.0					22																	21288526		2203	4300	6503	SO:0001819	synonymous_variant	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21288526A>C		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.771A>C	22.37:g.21288526A>C						CRKL_uc002ztg.1_RNA	p.A257A	NM_005207	NP_005198	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		2	1280	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	257			SH3 2.		A8KA44|D3DX35	Silent	SNP	ENST00000354336.3	37	c.771A>C	CCDS13785.1																																																																																				PASS	0.393	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		15	41	15	41	---	---	---	---
RSPH14	27156	broad.mit.edu	37	22	23401853	23401853	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:23401853C>A	ENST00000216036.4	-	7	1030	c.834G>T	c.(832-834)ctG>ctT	p.L278L		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		278								p.L278L(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCAGCAGCTCCAGGAGCAGGC	0.662																																						uc002zwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(832-834)CTG>CTT		rhabdoid tumor deletion region protein 1							76.0	72.0	74.0					22																	23401853		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23401853C>A																												ENST00000216036.4:c.834G>T	22.37:g.23401853C>A							p.L278L	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	992	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		278						Silent	SNP	ENST00000216036.4	37	c.834G>T	CCDS13803.1																																																																																				PASS	0.662	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			59	30	59	30	---	---	---	---
RASL10A	10633	broad.mit.edu	37	22	29707967	29707967	+	IGR	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:29707967C>T	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407647.2_Missense_Mutation_p.S509L|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000407854.1_Missense_Mutation_p.S509L|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000403764.1_Missense_Mutation_p.S509L|GAS2L1_ENST00000471961.1_Missense_Mutation_p.S509L|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L508L(1)		NS(1)	1						CCCTGCAGCTCGACCCGCAGC	0.687																																						uc003afa.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1525-1527)CTC>CTT		growth arrest-specific 2 like 1 isoform a							28.0	37.0	34.0					22																	29707967		2067	4194	6261	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29707967C>T	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29707967C>T						GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.L509L|GAS2L1_uc003afd.1_Missense_Mutation_p.S509L|GAS2L1_uc003afe.1_Missense_Mutation_p.S509L	p.L509L	NM_152236	NP_689422	Q99501	GA2L1_HUMAN			7	1726	+			509					Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	c.1527C>T	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165442	0.21538	.	.	ENSG00000185340	ENST00000407647;ENST00000403764;ENST00000471961;ENST00000407854	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	3.3	-2.28	0.06826	.	.	.	.	.	T	0.19644	0.0472	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12142	-1.0559	8	.	.	.	-8.8107	4.8899	0.13722	0.0:0.2614:0.4601:0.2785	.	509	E7EQM6	.	L	509	ENSP00000385554:S509L;ENSP00000385358:S509L;ENSP00000450152:S509L;ENSP00000385023:S509L	.	S	+	2	0	GAS2L1	28037967	0.023000	0.18921	0.996000	0.52242	0.912000	0.54170	-0.791000	0.04599	-0.248000	0.09583	-0.339000	0.08088	TCG		PASS	0.687	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			15	27	15	27	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30035098	30035098	+	Nonsense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:30035098C>G	ENST00000338641.4	+	3	701	c.260C>G	c.(259-261)tCa>tGa	p.S87*	NF2_ENST00000403435.1_Nonsense_Mutation_p.S87*|NF2_ENST00000361676.4_Nonsense_Mutation_p.S45*|NF2_ENST00000397789.3_Nonsense_Mutation_p.S87*|NF2_ENST00000361166.4_Nonsense_Mutation_p.S87*|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000403999.3_Nonsense_Mutation_p.S87*|NF2_ENST00000334961.7_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000413209.2_Nonsense_Mutation_p.S87*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	87	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.S87*(3)|p.?(3)|p.H84_F100del(1)|p.V86_Q111>E(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CATGATGTTTCAAAGGAAGAA	0.428			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													uc003age.3			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	D|Mis|N|F|S|O	neurofibromatosis type 2 gene			O		meningioma|acoustic neuroma	meningioma|acoustic neuroma|renal 		8	Substitution - Nonsense(3)|Unknown(3)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.H84_F100del(1)|p.V86_Q111>E(1)|p.S87fs*36(1)|p.S87*(1)	lung(3)|soft_tissue(2)|stomach(1)|large_intestine(1)|bone(1)	meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						c.(259-261)TCA>TGA		neurofibromin 2 isoform 1							131.0	113.0	119.0					22																	30035098		2203	4300	6503	SO:0001587	stop_gained	4771	Neurofibromatosis_type_2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30035098C>G	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.260C>G	22.37:g.30035098C>G	ENSP00000344666:p.Ser87*					NF2_uc003afy.3_Nonsense_Mutation_p.S87*|NF2_uc003afz.3_Intron|NF2_uc003agf.3_Nonsense_Mutation_p.S87*|NF2_uc003agb.3_Nonsense_Mutation_p.S10*|NF2_uc003agc.3_Nonsense_Mutation_p.S49*|NF2_uc003agd.3_Intron|NF2_uc003agg.3_Nonsense_Mutation_p.S87*|NF2_uc003aga.3_Nonsense_Mutation_p.S45*|NF2_uc003agh.3_Intron|NF2_uc003agi.3_Intron|NF2_uc003agj.3_Nonsense_Mutation_p.S87*|NF2_uc003agk.3_Nonsense_Mutation_p.S49*	p.S87*	NM_000268	NP_000259	P35240	MERL_HUMAN			3	703	+			87			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	37	c.260C>G	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	41	8.726506	0.98931	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000403435;ENST00000397822;ENST00000403999;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.95	5.95	0.96441	.	0.058431	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	87;87;87;87;87;87;45;87	.	.	S	+	2	0	NF2	28365098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.824000	0.97209	0.655000	0.94253	TCA		PASS	0.428	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		34	17	34	17	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36691011	36691011	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:36691011C>A	ENST00000216181.5	-	27	3827	c.3597G>T	c.(3595-3597)gaG>gaT	p.E1199D		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1199					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E1199D(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCGCCAGCTCCTCCACGGCCT	0.647			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(3595-3597)GAG>GAT		myosin, heavy polypeptide 9, non-muscle							117.0	112.0	113.0					22																	36691011		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36691011C>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3597G>T	22.37:g.36691011C>A	ENSP00000216181:p.Glu1199Asp						p.E1199D	NM_002473	NP_002464	P35579	MYH9_HUMAN			27	3828	-			1199			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.3597G>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040254	0.35989	.	.	ENSG00000100345	ENST00000216181	T	0.78595	-1.19	4.92	1.66	0.24008	Myosin tail (1);	0.104862	0.64402	D	0.000006	T	0.68384	0.2995	L	0.46670	1.46	0.80722	D	1	B	0.09022	0.002	B	0.20577	0.03	T	0.61964	-0.6954	10	0.72032	D	0.01	.	7.6762	0.28486	0.0:0.5222:0.0:0.4778	.	1199	P35579	MYH9_HUMAN	D	1199	ENSP00000216181:E1199D	ENSP00000216181:E1199D	E	-	3	2	MYH9	35020957	0.990000	0.36364	1.000000	0.80357	0.962000	0.63368	0.263000	0.18478	0.219000	0.20840	-0.254000	0.11334	GAG		PASS	0.647	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		89	44	89	44	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36692951	36692951	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:36692951C>A	ENST00000216181.5	-	25	3440	c.3210G>T	c.(3208-3210)caG>caT	p.Q1070H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1070			Missing (in MHA and SBS). {ECO:0000269|PubMed:12792306}.		actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.Q1070H(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCGCGATCTGGGCCTGGA	0.677			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(3208-3210)CAG>CAT		myosin, heavy polypeptide 9, non-muscle							48.0	48.0	48.0					22																	36692951		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36692951C>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3210G>T	22.37:g.36692951C>A	ENSP00000216181:p.Gln1070His						p.Q1070H	NM_002473	NP_002464	P35579	MYH9_HUMAN			25	3441	-			1070		Missing (in MHA and SBS).	Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.3210G>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543221	0.86022	.	.	ENSG00000100345	ENST00000216181	D	0.84298	-1.83	5.54	5.54	0.83059	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	M	0.82517	2.595	0.80722	D	1	D	0.60575	0.988	D	0.63033	0.91	D	0.92541	0.6042	10	0.87932	D	0	.	13.7435	0.62862	0.0:0.9263:0.0:0.0737	.	1070	P35579	MYH9_HUMAN	H	1070	ENSP00000216181:Q1070H	ENSP00000216181:Q1070H	Q	-	3	2	MYH9	35022897	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.976000	0.63785	2.616000	0.88540	0.467000	0.42956	CAG		PASS	0.677	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		11	31	11	31	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38130844	38130844	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:38130844G>A	ENST00000406386.3	+	9	4756	c.4501G>A	c.(4501-4503)Gag>Aag	p.E1501K		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1501					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.E1501K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCCACTCATGAGCTCCCCAG	0.652																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(4501-4503)GAG>AAG		TRIO and F-actin binding protein isoform 6							21.0	24.0	23.0					22																	38130844		1871	4087	5958	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38130844G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4501G>A	22.37:g.38130844G>A	ENSP00000384312:p.Glu1501Lys					TRIOBP_uc003atu.2_Missense_Mutation_p.E1329K	p.E1501K	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			9	4772	+	Melanoma(58;0.0574)		1501					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.4501G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	8.529	0.870603	0.17322	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19105	2.17	4.75	2.64	0.31445	.	.	.	.	.	T	0.13841	0.0335	L	0.27053	0.805	0.09310	N	0.999999	B	0.22003	0.063	B	0.19666	0.026	T	0.28235	-1.0050	9	0.31617	T	0.26	.	7.5332	0.27695	0.1999:0.0:0.8001:0.0	.	1501	Q9H2D6	TARA_HUMAN	K	1501;1462	ENSP00000384312:E1501K	ENSP00000384312:E1501K	E	+	1	0	TRIOBP	36460790	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.111000	0.10807	0.432000	0.26286	0.563000	0.77884	GAG		PASS	0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			27	20	27	20	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38130997	38130997	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:38130997G>C	ENST00000406386.3	+	9	4909	c.4654G>C	c.(4654-4656)Gag>Cag	p.E1552Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1552					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.E1552Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCGTGGCTCTGAGAGGCGACC	0.687											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(4654-4656)GAG>CAG		TRIO and F-actin binding protein isoform 6							54.0	62.0	59.0					22																	38130997		2033	4175	6208	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38130997G>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4654G>C	22.37:g.38130997G>C	ENSP00000384312:p.Glu1552Gln		OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	TRIOBP_uc003atu.2_Missense_Mutation_p.E1380Q	p.E1552Q	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			9	4925	+	Melanoma(58;0.0574)		1552					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.4654G>C	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486527	0.63962	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24723	1.84	5.64	3.56	0.40772	.	.	.	.	.	T	0.23611	0.0571	L	0.27053	0.805	0.26739	N	0.970423	D	0.59767	0.986	P	0.49637	0.617	T	0.05162	-1.0902	9	0.39692	T	0.17	.	8.8584	0.35242	0.1717:0.0:0.8283:0.0	.	1552	Q9H2D6	TARA_HUMAN	Q	1552;1513	ENSP00000384312:E1552Q	ENSP00000384312:E1552Q	E	+	1	0	TRIOBP	36460943	0.787000	0.28750	0.011000	0.14972	0.097000	0.18754	1.429000	0.34903	0.740000	0.32651	0.563000	0.77884	GAG		PASS	0.687	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			25	20	25	20	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38131246	38131246	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:38131246G>A	ENST00000406386.3	+	9	5158	c.4903G>A	c.(4903-4905)Gag>Aag	p.E1635K		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1635					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.E1635K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGGCTGGGCCGAGGCCACCCC	0.657											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(4903-4905)GAG>AAG		TRIO and F-actin binding protein isoform 6							41.0	52.0	48.0					22																	38131246		2123	4237	6360	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38131246G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4903G>A	22.37:g.38131246G>A	ENSP00000384312:p.Glu1635Lys		OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	TRIOBP_uc003atu.2_Missense_Mutation_p.E1463K	p.E1635K	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			9	5174	+	Melanoma(58;0.0574)		1635					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.4903G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	5.542	0.284879	0.10513	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19532	2.14	4.85	1.57	0.23409	.	.	.	.	.	T	0.10423	0.0255	N	0.14661	0.345	0.09310	N	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.38499	-0.9658	9	0.17369	T	0.5	.	6.943	0.24502	0.3098:0.0:0.6902:0.0	.	1635	Q9H2D6	TARA_HUMAN	K	1635;1596	ENSP00000384312:E1635K	ENSP00000384312:E1635K	E	+	1	0	TRIOBP	36461192	0.002000	0.14202	0.056000	0.19401	0.024000	0.10985	0.483000	0.22292	0.296000	0.22592	0.563000	0.77884	GAG		PASS	0.657	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			33	14	33	14	---	---	---	---
PDGFB	5155	broad.mit.edu	37	22	39629506	39629506	+	Silent	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:39629506G>A	ENST00000331163.6	-	3	971	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	PDGFB_ENST00000381551.4_Silent_p.L47L	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	62					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.L62L(2)|p.L47L(1)	COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GTCATGTTCAGGTCCAACTCG	0.627			T	COL1A1	DFSP																																	uc003axf.2				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(372)	3	Substitution - coding silent(3)		lung(3)	soft_tissue(372)|central_nervous_system(1)	373						c.(184-186)CTG>TTG		platelet-derived growth factor beta isoform 1	Becaplermin(DB00102)						61.0	62.0	62.0					22																	39629506		2203	4300	6503	SO:0001819	synonymous_variant	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39629506G>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.184C>T	22.37:g.39629506G>A						PDGFB_uc003axe.2_Silent_p.L47L	p.L62L	NM_002608	NP_002599	P01127	PDGFB_HUMAN			3	1173	-	Melanoma(58;0.04)		62					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	c.184C>T	CCDS13987.1																																																																																				PASS	0.627	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		17	19	17	19	---	---	---	---
DENND6B	414918	broad.mit.edu	37	22	50750580	50750580	+	Silent	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr22:50750580C>T	ENST00000413817.3	-	20	1817	c.1746G>A	c.(1744-1746)ttG>ttA	p.L582L	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	582					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L582L(1)									AGGGAGGGCACAAGACAGCCT	0.657																																						uc011aru.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1744-1746)TTG>TTA		family with sequence similarity 116, member B							33.0	37.0	35.0					22																	50750580		2097	4212	6309	SO:0001819	synonymous_variant	414918							g.chr22:50750580C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1746G>A	22.37:g.50750580C>T						FAM116B_uc011arv.1_Silent_p.L582L	p.L582L	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	21	1818	-		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	582					A6X8I5	Silent	SNP	ENST00000413817.3	37	c.1746G>A	CCDS46732.1																																																																																				PASS	0.657	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		5	13	5	13	---	---	---	---
SHOX	6473	broad.mit.edu	37	X	591648	591648	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:591648G>C	ENST00000554971.1	+	1	107	c.16G>C	c.(16-18)Gct>Cct	p.A6P	SHOX_ENST00000381575.1_Missense_Mutation_p.A6P|SHOX_ENST00000381578.1_Missense_Mutation_p.A6P|SHOX_ENST00000334060.3_Missense_Mutation_p.A6P			O15266	SHOX_HUMAN	short stature homeobox	6					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A6P(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGCTCACGGCTTTTGTATC	0.647																																					Ovarian(95;18 1419 12424 14056 28266)	uc004cph.1																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)GCT>CCT		short stature homeobox isoform SHOXa							104.0	125.0	118.0					X																	591648		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591648G>C	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.16G>C	X.37:g.591648G>C	ENSP00000452016:p.Ala6Pro					SHOX_uc004cpi.2_Missense_Mutation_p.A6P	p.A6P	NM_000451	NP_000442	O15266	SHOX_HUMAN			2	707	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	6					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.16G>C	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975555	0.74360	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7	2.38	2.38	0.29361	.	0.171371	0.37483	U	0.002075	D	0.98052	0.9358	M	0.71581	2.175	0.09310	N	1	D;D	0.76494	0.999;0.997	D;D	0.67548	0.952;0.916	D	0.94147	0.7402	10	0.87932	D	0	.	12.494	0.55916	0.0:0.0:1.0:0.0	.	6;6	O15266-2;O15266	.;SHOX_HUMAN	P	6	ENSP00000335505:A6P;ENSP00000370990:A6P;ENSP00000452016:A6P;ENSP00000370987:A6P	ENSP00000335505:A6P	A	+	1	0	SHOX	511648	1.000000	0.71417	0.982000	0.44146	0.960000	0.62799	7.251000	0.78297	0.833000	0.34828	0.422000	0.28245	GCT		PASS	0.647	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		16	60	16	60	---	---	---	---
CRLF2	64109	broad.mit.edu	37	X	1314965	1314965	+	Missense_Mutation	SNP	A	A	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:1314965A>T	ENST00000381567.3	-	6	695	c.696T>A	c.(694-696)ttT>ttA	p.F232L	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	232					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F232L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAATTAAAATAAATTTGGACA	0.488			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																	uc004cpm.1				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	Mis|T	cytokine receptor-like factor 2			L	P2RY8|IGH@		B-ALL|Downs associated ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(7)	7								Homo sapiens mRNA for IL-XR, complete cds.							194.0	198.0	197.0					X																	1314965		1862	4089	5951	SO:0001583	missense	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1314965A>T	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.696T>A	X.37:g.1314965A>T	ENSP00000370979:p.Phe232Leu									Q9HC73	CRLF2_HUMAN			6		-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)						Q9H5R3	RNA	SNP	ENST00000381567.3	37	c.878T>A		.	.	.	.	.	.	.	.	.	.	a	0.008	-1.861832	0.00552	.	.	ENSG00000205755	ENST00000381567;ENST00000400841	D;D	0.98192	-4.78;-4.78	1.56	-2.78	0.05859	.	1.365040	0.05058	U	0.479456	D	0.93242	0.7847	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.17722	0.019	D	0.88582	0.3137	9	0.11485	T	0.65	-14.0039	5.8589	0.18734	0.3753:0.0:0.6247:0.0	.	232	Q9HC73	CRLF2_HUMAN	L	232	ENSP00000370979:F232L;ENSP00000383641:F232L	ENSP00000370979:F232L	F	-	3	2	CRLF2	1274965	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.549000	0.06041	-0.762000	0.04664	0.300000	0.19848	TTT		PASS	0.488	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		13	32	13	32	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3241309	3241309	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:3241309T>G	ENST00000217939.6	-	5	2571	c.2417A>C	c.(2416-2418)aAa>aCa	p.K806T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	806						extracellular vesicular exosome (GO:0070062)		p.K806T(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACTTGTGGTTTTAATCAATGG	0.478																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(2416-2418)AAA>ACA		adlican precursor							148.0	145.0	146.0					X																	3241309		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241309T>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2417A>C	X.37:g.3241309T>G	ENSP00000217939:p.Lys806Thr						p.K806T	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	2574	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	806					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2417A>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	4.026	0.002323	0.07819	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63096	-0.02	3.63	-5.1	0.02911	.	0.821565	0.10145	N	0.710316	T	0.30696	0.0773	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.09465	-1.0673	10	0.44086	T	0.13	.	1.0587	0.01596	0.1707:0.1827:0.3281:0.3185	.	806	Q9NR99	MXRA5_HUMAN	T	806	ENSP00000217939:K806T	ENSP00000217939:K806T	K	-	2	0	MXRA5	3251309	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.660000	0.05317	-1.070000	0.03149	-0.424000	0.05967	AAA		PASS	0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		35	20	35	20	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18259479	18259479	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:18259479C>A	ENST00000251900.4	-	15	2154	c.1995G>T	c.(1993-1995)ctG>ctT	p.L665L	SCML2_ENST00000491988.1_5'Flank|SCML2_ENST00000398048.3_3'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	665	SAM.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L665L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGAGTAGGAACAGAGCCTTCC	0.348																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1993-1995)CTG>CTT		sex comb on midleg-like 2							130.0	114.0	119.0					X																	18259479		2203	4300	6503	SO:0001819	synonymous_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18259479C>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1995G>T	X.37:g.18259479C>A						SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_3'UTR|SCML2_uc011miz.1_3'UTR|SCML2_uc010nfc.2_3'UTR	p.L665L	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			15	2152	-	Hepatocellular(33;0.183)		665			SAM.		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	c.1995G>T	CCDS14185.1																																																																																				PASS	0.348	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		24	21	24	21	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19024151	19024151	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:19024151C>G	ENST00000379869.3	-	22	1971	c.1808G>C	c.(1807-1809)tGt>tCt	p.C603S	GPR64_ENST00000356606.4_Missense_Mutation_p.C589S|GPR64_ENST00000379873.2_Missense_Mutation_p.C603S|GPR64_ENST00000379878.3_Missense_Mutation_p.C587S|GPR64_ENST00000357991.3_Missense_Mutation_p.C600S|GPR64_ENST00000360279.4_Missense_Mutation_p.C581S|GPR64_ENST00000340581.3_Missense_Mutation_p.C484S|GPR64_ENST00000357544.3_Missense_Mutation_p.C573S|GPR64_ENST00000354791.3_Missense_Mutation_p.C587S|GPR64_ENST00000379876.1_Missense_Mutation_p.C579S	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	603	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.C600S(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAGATGGCTACAGGTACAGAT	0.502																																						uc004cyx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1807-1809)TGT>TCT		G protein-coupled receptor 64 isoform 1							178.0	136.0	150.0					X																	19024151		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19024151C>G	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1808G>C	X.37:g.19024151C>G	ENSP00000369198:p.Cys603Ser					GPR64_uc004cyy.2_Missense_Mutation_p.C600S|GPR64_uc004cyz.2_Missense_Mutation_p.C589S|GPR64_uc004czb.2_Missense_Mutation_p.C603S|GPR64_uc004czc.2_Missense_Mutation_p.C587S|GPR64_uc004czd.2_Missense_Mutation_p.C579S|GPR64_uc004cze.2_Missense_Mutation_p.C573S|GPR64_uc004czf.2_Missense_Mutation_p.C565S|GPR64_uc004cza.2_Missense_Mutation_p.C581S|GPR64_uc004cyw.2_Missense_Mutation_p.C587S|GPR64_uc010nfj.2_Missense_Mutation_p.C484S	p.C603S	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			22	1972	-	Hepatocellular(33;0.183)		603			GPS.|Extracellular (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1808G>C	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247378	0.80024	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	D;D;D;D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.73	5.73	0.89815	GPS domain (3);	0.000000	0.64402	D	0.000006	D	0.96911	0.8991	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0	D	0.97805	1.0247	10	0.87932	D	0	.	18.9182	0.92515	0.0:1.0:0.0:0.0	.	484;565;573;579;587;603;581;589;600;603;587	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	S	603;587;587;579;573;603;581;600;589;484	ENSP00000369202:C603S;ENSP00000369207:C587S;ENSP00000346845:C587S;ENSP00000369205:C579S;ENSP00000350152:C573S;ENSP00000369198:C603S;ENSP00000353421:C581S;ENSP00000350680:C600S;ENSP00000349015:C589S;ENSP00000344972:C484S	ENSP00000344972:C484S	C	-	2	0	GPR64	18934072	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	7.442000	0.80503	2.415000	0.81967	0.600000	0.82982	TGT		PASS	0.502	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			10	21	10	21	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29938136	29938136	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:29938136G>A	ENST00000378993.1	+	8	1655	c.982G>A	c.(982-984)Gac>Aac	p.D328N	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.D328N	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	328	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.D328N(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAAGAAGGTGACTTGGGAAA	0.413																																						uc004dby.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(982-984)GAC>AAC		interleukin 1 receptor accessory protein-like 1							191.0	160.0	170.0					X																	29938136		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938136G>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.982G>A	X.37:g.29938136G>A	ENSP00000368278:p.Asp328Asn						p.D328N	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			8	1490	+			328			Extracellular (Potential).|Ig-like C2-type 3.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.982G>A	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353561	0.95830	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.80994	-1.44;-1.44	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90813	0.7115	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90743	0.4651	9	.	.	.	.	19.2812	0.94053	0.0:0.0:1.0:0.0	.	328	Q9NZN1	IRPL1_HUMAN	N	328	ENSP00000368278:D328N;ENSP00000305200:D328N	.	D	+	1	0	IL1RAPL1	29848057	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.505000	0.84491	0.523000	0.50628	GAC		PASS	0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		23	13	23	13	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30236723	30236723	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:30236723T>A	ENST00000378988.4	+	2	127	c.26T>A	c.(25-27)cTc>cAc	p.L9H		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	9								p.L9H(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AAGAGTAAGCTCCGTGCCCGT	0.537																																						uc004dbz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(25-27)CTC>CAC		melanoma antigen family B, 2							42.0	41.0	41.0					X																	30236723		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236723T>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.26T>A	X.37:g.30236723T>A	ENSP00000368273:p.Leu9His						p.L9H	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	129	+			9					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.26T>A	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348934	0.41599	.	.	ENSG00000099399	ENST00000378988	T	0.04603	3.59	3.43	-2.88	0.05682	Melanoma associated antigen, MAGE, N-terminal (1);	1.225170	0.06134	N	0.671234	T	0.10337	0.0253	L	0.58810	1.83	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.38394	-0.9663	10	0.10377	T	0.69	.	0.4571	0.00511	0.3617:0.1201:0.1827:0.3355	.	9	O15479	MAGB2_HUMAN	H	9	ENSP00000368273:L9H	ENSP00000368273:L9H	L	+	2	0	MAGEB2	30146644	0.053000	0.20554	0.043000	0.18650	0.089000	0.18198	-0.615000	0.05597	-0.699000	0.05077	0.417000	0.27973	CTC		PASS	0.537	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		14	5	14	5	---	---	---	---
CHDC2	286464	broad.mit.edu	37	X	36117869	36117869	+	Splice_Site	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:36117869C>G	ENST00000313548.4	+	7	911	c.725C>G	c.(724-726)tCt>tGt	p.S242C		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	242						integral component of membrane (GO:0016021)		p.S242C(1)									TTCTTAAAGTCTTCCACTAAT	0.303																																						uc004ddk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(724-726)TCT>TGT		hypothetical protein LOC286464							62.0	62.0	62.0					X																	36117869		2201	4297	6498	SO:0001630	splice_region_variant	286464					integral to membrane		g.chrX:36117869C>G	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.724-1C>G	X.37:g.36117869C>G							p.S242C	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			7	911	+			242						Missense_Mutation	SNP	ENST00000313548.4	37	c.725C>G	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	3.333	-0.136210	0.06711	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.59	1.55	0.23275	.	0.201837	0.30142	N	0.010311	T	0.26955	0.0660	L	0.48642	1.525	0.09310	N	1	B	0.28801	0.223	B	0.19148	0.024	T	0.19778	-1.0295	9	0.54805	T	0.06	-10.9538	1.8328	0.03133	0.1633:0.4943:0.156:0.1864	.	242	Q8N9S7	CX059_HUMAN	C	242	.	ENSP00000324767:S242C	S	+	2	0	CXorf59	36027790	0.003000	0.15002	0.006000	0.13384	0.142000	0.21351	0.128000	0.15810	0.531000	0.28639	-0.315000	0.08773	TCT		PASS	0.303	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	Missense_Mutation	22	12	22	12	---	---	---	---
CASK	8573	broad.mit.edu	37	X	41437649	41437649	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:41437649C>T	ENST00000378163.1	-	15	1921	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	CASK_ENST00000472704.1_5'UTR|CASK_ENST00000378154.1_Missense_Mutation_p.E483K|CASK_ENST00000361962.4_Missense_Mutation_p.E483K|CASK_ENST00000442742.2_Missense_Mutation_p.E483K|CASK_ENST00000318588.9_Missense_Mutation_p.E483K|CASK_ENST00000378158.1_Missense_Mutation_p.E483K|CASK_ENST00000378166.4_Missense_Mutation_p.E483K|CASK_ENST00000421587.2_Missense_Mutation_p.E477K			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	483					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.E483K(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GTCACATTCTCCATATCCATG	0.438																																					NSCLC(42;104 1086 3090 27189 35040)	uc004dfl.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|stomach(1)	6						c.(1447-1449)GAG>AAG		calcium/calmodulin-dependent serine protein							133.0	105.0	114.0					X																	41437649		2203	4300	6503	SO:0001583	missense	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41437649C>T	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1447G>A	X.37:g.41437649C>T	ENSP00000367405:p.Glu483Lys					CASK_uc004dfj.3_Missense_Mutation_p.E46K|CASK_uc004dfk.3_Missense_Mutation_p.E298K|CASK_uc004dfm.3_Missense_Mutation_p.E483K|CASK_uc004dfn.3_Missense_Mutation_p.E477K	p.E483K	NM_003688	NP_003679	O14936	CSKP_HUMAN			15	1493	-			483					A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37	c.1447G>A		.	.	.	.	.	.	.	.	.	.	C	24.4	4.522733	0.85600	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.44	5.44	0.79542	PDZ/DHR/GLGF (1);	0.000000	0.52532	D	0.000077	T	0.67392	0.2888	M	0.77820	2.39	0.80722	D	1	P;P;B;P;B	0.49635	0.926;0.811;0.128;0.9;0.1	P;P;B;P;B	0.57846	0.518;0.828;0.064;0.675;0.098	T	0.69741	-0.5063	10	0.52906	T	0.07	.	18.5502	0.91062	0.0:1.0:0.0:0.0	.	477;483;483;483;98	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	K	477;483;483;483;98;483;483;483;483	ENSP00000400526:E477K;ENSP00000322727:E483K;ENSP00000354641:E483K;ENSP00000367405:E483K;ENSP00000367421:E98K;ENSP00000367400:E483K;ENSP00000367408:E483K;ENSP00000398007:E483K;ENSP00000367396:E483K	ENSP00000322727:E483K	E	-	1	0	CASK	41322593	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.429000	0.80309	2.410000	0.81850	0.600000	0.82982	GAG		PASS	0.438	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		12	8	12	8	---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47307673	47307673	+	Missense_Mutation	SNP	T	T	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:47307673T>G	ENST00000377065.4	-	5	2135	c.1496A>C	c.(1495-1497)gAa>gCa	p.E499A	ZNF41_ENST00000397050.2_Missense_Mutation_p.E509A|ZNF41_ENST00000313116.7_Missense_Mutation_p.E499A|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	541					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.E499A(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTTTCCACATTCTGTACATAT	0.428																																						uc004dhs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1621-1623)GAA>GCA		zinc finger protein 41							110.0	103.0	105.0					X																	47307673		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307673T>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1496A>C	X.37:g.47307673T>G	ENSP00000366265:p.Glu499Ala					ZNF41_uc004dhu.3_Missense_Mutation_p.E533A|ZNF41_uc004dht.3_Missense_Mutation_p.E413A|ZNF41_uc004dhv.3_Missense_Mutation_p.E509A|ZNF41_uc004dhw.3_Missense_Mutation_p.E501A|ZNF41_uc004dhy.3_Missense_Mutation_p.E499A|ZNF41_uc004dhx.3_Missense_Mutation_p.E499A|ZNF41_uc011mlm.1_Missense_Mutation_p.E413A	p.E541A	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	1689	-		all_lung(315;0.000129)	541			C2H2-type 9.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1622A>C	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614637	0.46631	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.06933	3.24;3.24;3.24	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002840	T	0.22044	0.0531	L	0.56396	1.775	0.21290	N	0.999738	B;B;D;P;P	0.64830	0.444;0.444;0.994;0.672;0.72	B;B;D;B;P	0.79108	0.339;0.339;0.992;0.431;0.567	T	0.01208	-1.1418	10	0.59425	D	0.04	.	10.3222	0.43773	0.0:0.0:0.0:1.0	.	499;501;509;533;541	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	A	499;499;509	ENSP00000315173:E499A;ENSP00000366265:E499A;ENSP00000380243:E509A	ENSP00000315173:E499A	E	-	2	0	ZNF41	47192617	0.000000	0.05858	0.977000	0.42913	0.995000	0.86356	0.525000	0.22956	1.798000	0.52647	0.486000	0.48141	GAA		PASS	0.428	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		29	8	29	8	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53661239	53661240	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:53661239_53661240TC>AA	ENST00000342160.3	-	7	972_973	c.515_516GA>TT	c.(514-516)gGA>gTT	p.G172V	HUWE1_ENST00000218328.8_Missense_Mutation_p.G172V|HUWE1_ENST00000262854.6_Missense_Mutation_p.G172V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	172					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.G172V(4)|p.G172G(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATTCTCCTTTCCACCCCAGCT	0.46																																						uc004dsp.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(514-516)GGA>GGT|c.(514-516)GGA>GTA		HECT, UBA and WWE domain containing 1																																				SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53661239T>A|g.chrX:53661240C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.515_516delinsAA	X.37:g.53661239_53661240delinsAA	ENSP00000340648:p.Gly172Val						p.G172G|p.G172V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			8	918|917	-			172					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent|Missense_Mutation	SNP	ENST00000342160.3	37	c.516A>T|c.515G>T	CCDS35301.1																																																																																				PASS	0.460	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		12|11	15	11	15	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54823400	54823400	+	Missense_Mutation	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:54823400G>C	ENST00000218436.6	-	2	261	c.232C>G	c.(232-234)Ctt>Gtt	p.L78V		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	78	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L78V(1)									ATAAAGGCAAGATGAGGCAGA	0.453																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(232-234)CTT>GTT		inter-alpha (globulin) inhibitor H5-like							174.0	131.0	145.0					X																	54823400		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54823400G>C	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.232C>G	X.37:g.54823400G>C	ENSP00000218436:p.Leu78Val						p.L78V	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			2	262	-			78			VIT.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.232C>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.649611	0.00109	.	.	ENSG00000102313	ENST00000218436	T	0.21932	1.98	4.82	-1.51	0.08664	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.591149	0.15123	U	0.279294	T	0.11281	0.0275	N	0.22421	0.69	0.09310	N	1	B	0.18741	0.03	B	0.22152	0.038	T	0.26430	-1.0103	10	0.30078	T	0.28	.	5.9269	0.19118	0.6004:0.0:0.2528:0.1468	.	78	Q6UXX5	ITH5L_HUMAN	V	78	ENSP00000218436:L78V	ENSP00000218436:L78V	L	-	1	0	ITIH5L	54840125	0.021000	0.18746	0.000000	0.03702	0.030000	0.12068	0.157000	0.16402	-0.624000	0.05611	-0.322000	0.08575	CTT		PASS	0.453	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		32	26	32	26	---	---	---	---
ZC4H2	55906	broad.mit.edu	37	X	64141826	64141826	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:64141826C>A	ENST00000374839.3	-	2	202	c.96G>T	c.(94-96)aaG>aaT	p.K32N	ZC4H2_ENST00000337990.2_Missense_Mutation_p.K9N|ZC4H2_ENST00000447788.2_Missense_Mutation_p.K32N|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000545618.1_Missense_Mutation_p.K27N	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	32					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.K32N(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAAACTCAGCCTTCAAACGAG	0.483																																						uc004dvu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(94-96)AAG>AAT		zinc finger, C4H2 domain containing							139.0	100.0	113.0					X																	64141826		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64141826C>A	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.96G>T	X.37:g.64141826C>A	ENSP00000363972:p.Lys32Asn					ZC4H2_uc004dvv.2_Missense_Mutation_p.K9N|ZC4H2_uc011mov.1_Missense_Mutation_p.K9N|ZC4H2_uc011mow.1_Missense_Mutation_p.K32N|ZC4H2_uc004dvw.1_Missense_Mutation_p.K32N	p.K32N	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			2	184	-			32			Potential.		B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.96G>T	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232777	0.58777	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.34	3.58	0.41010	.	0.043901	0.85682	D	0.000000	T	0.47710	0.1460	L	0.40543	1.245	0.47511	D	0.999444	P;P	0.47841	0.77;0.901	P;P	0.49683	0.5;0.619	T	0.26224	-1.0109	9	0.18710	T	0.47	.	9.1839	0.37158	0.0:0.8176:0.0:0.1824	.	32;32	B4DED0;Q9NQZ6	.;ZC4H2_HUMAN	N	32;27;32;9	.	ENSP00000338650:K9N	K	-	3	2	ZC4H2	64058551	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.584000	0.46102	0.569000	0.29329	-0.297000	0.09499	AAG		PASS	0.483	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		14	9	14	9	---	---	---	---
EFNB1	1947	broad.mit.edu	37	X	68059886	68059886	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:68059886G>T	ENST00000204961.4	+	4	1363	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	195					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)	p.A195S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GGCCACACAGGCCCCTGGTAG	0.557																																						uc004dxd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)GCC>TCC		ephrin-B1 precursor							60.0	55.0	57.0					X																	68059886		2203	4300	6503	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68059886G>T	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.583G>T	X.37:g.68059886G>T	ENSP00000204961:p.Ala195Ser					EFNB1_uc004dxe.2_Missense_Mutation_p.A195S	p.A195S	NM_004429	NP_004420	P98172	EFNB1_HUMAN			4	1363	+			195			Extracellular (Potential).		D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.583G>T	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.420777	0.01126	.	.	ENSG00000090776	ENST00000204961	D	0.90133	-2.62	5.1	2.23	0.28157	.	0.648451	0.16267	N	0.221998	T	0.58148	0.2102	N	0.00210	-1.845	0.23210	N	0.99811	B	0.02656	0.0	B	0.01281	0.0	T	0.61720	-0.7005	10	0.02654	T	1	-4.5437	2.4673	0.04555	0.1083:0.2019:0.5067:0.1832	.	195	P98172	EFNB1_HUMAN	S	195	ENSP00000204961:A195S	ENSP00000204961:A195S	A	+	1	0	EFNB1	67976611	0.046000	0.20272	0.965000	0.40720	0.092000	0.18411	0.005000	0.13129	0.549000	0.28973	0.529000	0.55759	GCC		PASS	0.557	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		6	6	6	6	---	---	---	---
OTUD6A	139562	broad.mit.edu	37	X	69282924	69282924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:69282924G>T	ENST00000338352.2	+	1	584	c.550G>T	c.(550-552)Gag>Tag	p.E184*		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	184	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.E184*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GCACGTCGACGAGTTCCTGCC	0.602																																						uc004dxu.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|skin(1)	2						c.(550-552)GAG>TAG		OTU domain containing 6A							66.0	53.0	58.0					X																	69282924		2203	4300	6503	SO:0001587	stop_gained	139562							g.chrX:69282924G>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.550G>T	X.37:g.69282924G>T	ENSP00000339389:p.Glu184*						p.E184*	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			1	584	+			184			OTU.		B2RPB7	Nonsense_Mutation	SNP	ENST00000338352.2	37	c.550G>T	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978290	0.74360	.	.	ENSG00000189401	ENST00000338352	.	.	.	4.17	4.17	0.49024	.	0.157077	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.3895	0.60816	0.0:0.0:1.0:0.0	.	.	.	.	X	184	.	ENSP00000339389:E184X	E	+	1	0	OTUD6A	69199649	0.999000	0.42202	0.030000	0.17652	0.004000	0.04260	3.653000	0.54446	2.324000	0.78689	0.600000	0.82982	GAG		PASS	0.602	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		16	5	16	5	---	---	---	---
DGAT2L6	347516	broad.mit.edu	37	X	69424174	69424174	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:69424174T>A	ENST00000333026.3	+	6	767	c.667T>A	c.(667-669)Tat>Aat	p.Y223N		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	223					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.Y223N(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGTCCCTTCATATTCCTTTGG	0.478																																						uc004dxx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)TAT>AAT		diacylglycerol O-acyltransferase 2-like 6							49.0	41.0	44.0					X																	69424174		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424174T>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.667T>A	X.37:g.69424174T>A	ENSP00000328036:p.Tyr223Asn						p.Y223N	NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN			6	764	+			223					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.667T>A	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.512974	0.64522	.	.	ENSG00000184210	ENST00000333026	T	0.24151	1.87	4.43	4.43	0.53597	.	0.103621	0.41001	D	0.000977	T	0.57681	0.2070	M	0.92555	3.32	0.44816	D	0.997821	D	0.89917	1.0	D	0.87578	0.998	T	0.66854	-0.5818	10	0.87932	D	0	-22.3779	10.6411	0.45594	0.0:0.0:0.0:1.0	.	223	Q6ZPD8	DG2L6_HUMAN	N	223	ENSP00000328036:Y223N	ENSP00000328036:Y223N	Y	+	1	0	DGAT2L6	69340899	0.998000	0.40836	0.991000	0.47740	0.681000	0.39784	7.102000	0.77005	1.634000	0.50500	0.486000	0.48141	TAT		PASS	0.478	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		8	2	8	2	---	---	---	---
FOXO4	4303	broad.mit.edu	37	X	70321014	70321014	+	Missense_Mutation	SNP	C	C	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:70321014C>G	ENST00000374259.3	+	2	1266	c.934C>G	c.(934-936)Ctc>Gtc	p.L312V	FOXO4_ENST00000341558.3_Missense_Mutation_p.L257V	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	312					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L312V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TGGGCTCAATCTCACCTCTTC	0.557											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dys.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|prostate(1)	3						c.(934-936)CTC>GTC		forkhead box O4							46.0	49.0	48.0					X																	70321014		2110	4192	6302	SO:0001583	missense	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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.chrX:70321014C>G		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.934C>G	X.37:g.70321014C>G	ENSP00000363377:p.Leu312Val		OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.L257V	p.L312V	NM_005938	NP_005929	P98177	FOXO4_HUMAN			2	1287	+	Renal(35;0.156)		312					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	c.934C>G	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	C	8.998	0.979454	0.18812	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.97480	-3.98;-4.4	4.94	4.07	0.47477	.	0.444794	0.21524	N	0.073173	D	0.93913	0.8052	L	0.58810	1.83	0.38340	D	0.944053	P;B	0.45957	0.869;0.033	B;B	0.37888	0.26;0.01	D	0.91884	0.5518	10	0.41790	T	0.15	-47.7401	6.5479	0.22416	0.3187:0.594:0.0:0.0872	.	257;312	P98177-2;P98177	.;FOXO4_HUMAN	V	312;257	ENSP00000363377:L312V;ENSP00000342209:L257V	ENSP00000342209:L257V	L	+	1	0	FOXO4	70237739	0.975000	0.34042	0.801000	0.32222	0.921000	0.55340	0.767000	0.26575	1.074000	0.40909	0.519000	0.50382	CTC		PASS	0.557	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		12	7	12	7	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047462	73047462	+	lincRNA	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:73047462G>A	ENST00000604411.1	+	0	35423				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GAACGAGAAGGGGAAGGGGTA	0.393																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							32.0	29.0	30.0					X																	73047462		876	1990	2866			9383							g.chrX:73047462G>A			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047462G>A						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.35423G>A																																																																																					PASS	0.393	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		13	16	13	16	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938926	76938926	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:76938926C>A	ENST00000373344.5	-	9	2036	c.1822G>T	c.(1822-1824)Gtt>Ttt	p.V608F	ATRX_ENST00000395603.3_Missense_Mutation_p.V570F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	608					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.V608F(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTTGTGGAACTTCCTGACAA	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(1822-1824)GTT>TTT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						197.0	222.0	214.0					X																	76938926		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938926C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1822G>T	X.37:g.76938926C>A	ENSP00000362441:p.Val608Phe					ATRX_uc004ecq.3_Missense_Mutation_p.V570F|ATRX_uc004eco.3_Missense_Mutation_p.V393F|ATRX_uc004ecr.2_Missense_Mutation_p.V540F|ATRX_uc010nlx.1_Missense_Mutation_p.V579F|ATRX_uc010nly.1_Missense_Mutation_p.V553F	p.V608F	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2054	-			608					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.1822G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	10.02	1.235794	0.22626	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92595	-3.07;-3.07	5.22	5.22	0.72569	.	0.557171	0.18037	N	0.153742	D	0.91143	0.7211	L	0.47716	1.5	0.58432	D	0.999995	P;D;P;P	0.54601	0.8;0.967;0.755;0.8	B;P;B;B	0.53593	0.368;0.73;0.295;0.368	D	0.90038	0.4140	10	0.54805	T	0.06	-5.386	6.1779	0.20455	0.0:0.743:0.0:0.257	.	608;540;570;608	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	F	608;570;535	ENSP00000362441:V608F;ENSP00000378967:V570F	ENSP00000362441:V608F	V	-	1	0	ATRX	76825582	0.243000	0.23878	0.999000	0.59377	0.965000	0.64279	1.844000	0.39269	2.177000	0.69029	0.509000	0.49947	GTT		PASS	0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		71	75	71	75	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	104440226	104440226	+	Missense_Mutation	SNP	T	T	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:104440226T>A	ENST00000372582.1	+	3	908	c.152T>A	c.(151-153)gTg>gAg	p.V51E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.V51E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	51	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.V51E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCAGTCCGAGTGAAATGTGCC	0.448																																						uc004elz.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(151-153)GTG>GAG		interleukin 1 receptor accessory protein-like 2							172.0	137.0	149.0					X																	104440226		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104440226T>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.152T>A	X.37:g.104440226T>A	ENSP00000361663:p.Val51Glu						p.V51E	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			3	908	+			51			Ig-like C2-type 1.|Extracellular (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.152T>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423830	0.83667	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.78003	-1.14;-1.14	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000107	D	0.85080	0.5615	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	D	0.86619	0.1878	10	0.87932	D	0	.	13.9029	0.63817	0.0:0.0:0.0:1.0	.	51	Q9NP60	IRPL2_HUMAN	E	51	ENSP00000361663:V51E;ENSP00000344976:V51E	ENSP00000344976:V51E	V	+	2	0	IL1RAPL2	104326882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	1.880000	0.54463	0.486000	0.48141	GTG		PASS	0.448	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		31	17	31	17	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108636213	108636213	+	Silent	SNP	A	A	G			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:108636213A>G	ENST00000218006.2	-	13	2787	c.2496T>C	c.(2494-2496)tcT>tcC	p.S832S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	832					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.S832S(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCAAGTTGCTAGAATATTGCT	0.373																																						uc004eod.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(2494-2496)TCT>TCC		guanylate cyclase 2F precursor							174.0	157.0	163.0					X																	108636213		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108636213A>G	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2496T>C	X.37:g.108636213A>G						GUCY2F_uc011msq.1_RNA	p.S832S	NM_001522	NP_001513	P51841	GUC2F_HUMAN			13	2772	-			832			Cytoplasmic (Potential).		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.2496T>C	CCDS14545.1																																																																																				PASS	0.373	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		84	35	84	35	---	---	---	---
GPC3	2719	broad.mit.edu	37	X	132887889	132887889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:132887889G>A	ENST00000370818.3	-	3	1097	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	GPC3_ENST00000394299.2_Nonsense_Mutation_p.Q218*|GPC3_ENST00000543339.1_Nonsense_Mutation_p.Q164*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	218					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.Q218*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGGAAACCTGGGTCATAATA	0.473			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			1	Substitution - Nonsense(1)		lung(1)	lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(652-654)CAG>TAG		glypican 3 isoform 2 precursor							360.0	267.0	299.0					X																	132887889		2203	4300	6503	SO:0001587	stop_gained	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887889G>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.652C>T	X.37:g.132887889G>A	ENSP00000359854:p.Gln218*					GPC3_uc004exd.1_Nonsense_Mutation_p.Q90*|GPC3_uc010nrn.1_Nonsense_Mutation_p.Q218*|GPC3_uc011mvh.1_Nonsense_Mutation_p.Q202*|GPC3_uc010nro.1_Nonsense_Mutation_p.Q164*|GPC3_uc010nrp.1_Nonsense_Mutation_p.Q90*	p.Q218*	NM_004484	NP_004475	P51654	GPC3_HUMAN			3	842	-	Acute lymphoblastic leukemia(192;0.000127)		218					C9JLE3|G3V1R0|Q2L880|Q2L882	Nonsense_Mutation	SNP	ENST00000370818.3	37	c.652C>T	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	40	8.022751	0.98616	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	.	.	.	5.82	5.82	0.92795	.	0.055632	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.9337	0.89006	0.0:0.0:1.0:0.0	.	.	.	.	X	218;218;164	.	ENSP00000359854:Q218X	Q	-	1	0	GPC3	132715555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.455000	0.83008	0.594000	0.82650	CAG		PASS	0.473	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		61	24	61	24	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140983082	140983082	+	Missense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:140983082G>T	ENST00000298296.1	+	5	937	c.937G>T	c.(937-939)Gat>Tat	p.D313Y	MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Missense_Mutation_p.D65Y|MAGEC3_ENST00000409007.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	313	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.D313Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGTTCGCGGATGTGCTTTC	0.612																																						uc011mwp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(937-939)GAT>TAT		melanoma antigen family C, 3 isoform 1							108.0	101.0	103.0					X																	140983082		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140983082G>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.937G>T	X.37:g.140983082G>T	ENSP00000298296:p.Asp313Tyr					MAGEC3_uc004fbs.2_5'UTR|MAGEC3_uc010nsj.2_5'Flank	p.D313Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			5	937	+	Acute lymphoblastic leukemia(192;6.56e-05)		313			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.937G>T	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	N	2.155	-0.393591	0.04899	.	.	ENSG00000165509	ENST00000298296;ENST00000448920	T;T	0.47177	3.6;0.85	1.02	-1.32	0.09201	.	.	.	.	.	T	0.24774	0.0601	L	0.54323	1.7	0.09310	N	1	P	0.40302	0.712	B	0.25987	0.065	T	0.37337	-0.9710	9	0.02654	T	1	.	2.716	0.05187	0.2372:0.2926:0.4702:0.0	.	313	Q8TD91	MAGC3_HUMAN	Y	313;65	ENSP00000298296:D313Y;ENSP00000395092:D65Y	ENSP00000298296:D313Y	D	+	1	0	MAGEC3	140810748	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.171000	0.03115	-0.716000	0.04962	-1.556000	0.00890	GAT		PASS	0.612	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		52	20	52	20	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995433	140995433	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:140995433C>T	ENST00000285879.4	+	4	2529	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	748								p.S748F(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)					AGTATCTGCTCCTCCTCCACT	0.572										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2242-2244)TCC>TTC		melanoma antigen family C, 1							136.0	147.0	143.0					X																	140995433		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995433C>T	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.2243C>T	X.37:g.140995433C>T	ENSP00000285879:p.Ser748Phe	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S748F	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2529	+	Acute lymphoblastic leukemia(192;6.56e-05)		748					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2243C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	7.289	0.610634	0.14066	.	.	ENSG00000155495	ENST00000285879	T	0.02656	4.21	1.02	-0.129	0.13502	.	.	.	.	.	T	0.01730	0.0055	N	0.14661	0.345	0.39634	D	0.970223	B	0.14438	0.01	B	0.10450	0.005	T	0.50448	-0.8827	9	0.37606	T	0.19	.	4.415	0.11452	0.0:0.6927:0.0:0.3073	.	748	O60732	MAGC1_HUMAN	F	748	ENSP00000285879:S748F	ENSP00000285879:S748F	S	+	2	0	MAGEC1	140823099	0.026000	0.19158	0.046000	0.18839	0.047000	0.14425	0.582000	0.23834	0.280000	0.22209	0.284000	0.19432	TCC		PASS	0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		30	119	30	119	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142795489	142795489	+	Missense_Mutation	SNP	T	T	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:142795489T>C	ENST00000370498.1	-	2	942	c.189A>G	c.(187-189)atA>atG	p.I63M		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	63								p.I63M(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GATTTGAATTTATTTTCGTAT	0.438																																						uc004fbz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(187-189)ATA>ATG		SPANX-N2 protein							260.0	228.0	239.0					X																	142795489		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795489T>C		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.189A>G	X.37:g.142795489T>C	ENSP00000359529:p.Ile63Met						p.I63M	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	943	-	Acute lymphoblastic leukemia(192;6.56e-05)		63					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.189A>G	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	T	9.449	1.090052	0.20390	.	.	ENSG00000203924	ENST00000370498	T	0.09163	3.01	0.645	0.645	0.17782	.	.	.	.	.	T	0.27663	0.0680	M	0.74881	2.28	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.04268	-1.0964	8	0.56958	D	0.05	.	.	.	.	.	63	Q5MJ10	SPXN2_HUMAN	M	63	ENSP00000359529:I63M	ENSP00000359529:I63M	I	-	3	3	SPANXN2	142623155	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.349000	0.07731	0.483000	0.27608	0.242000	0.17961	ATA		PASS	0.438	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		65	34	65	34	---	---	---	---
MIR514A2	574517	broad.mit.edu	37	X	146360837	146360837	+	RNA	SNP	G	G	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:146360837G>C	ENST00000385131.1	-	0	88				MIR514A1_ENST00000385133.1_RNA	NR_030239.1|NR_030240.1				microRNA 514a-2																		TCACTCTCCAGAGTAGGGTAC	0.433																																						hsa-mir-514-1|MI0003198																			0					0															53.0	49.0	50.0					X																	146360837		1566	3569	5135			574516							g.chrX:146360837G>C			Xq27.3	2011-11-14	2011-11-14	2011-11-14	ENSG00000207866	ENSG00000207866		"""ncRNAs / Micro RNAs"""	32149	non-coding RNA	RNA, micro			"""microRNA 514-2"""	MIRN514-2, MIR514-2			Standard	NR_030239		Approved	hsa-mir-514-2	uc011mww.2				X.37:g.146360837G>C																-									RNA	SNP	ENST00000385131.1	37	c.26G>C																																																																																					PASS	0.433	MIR514A2-201	KNOWN	basic	miRNA	miRNA		NR_030239		13	7	13	7	---	---	---	---
GPR50	9248	broad.mit.edu	37	X	150349889	150349889	+	Missense_Mutation	SNP	C	C	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:150349889C>T	ENST00000218316.3	+	2	1903	c.1834C>T	c.(1834-1836)Cct>Tct	p.P612S	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	612	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.P612S(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGATGATCCTGATGAAAT	0.458																																						uc010ntg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1834-1836)CCT>TCT		G protein-coupled receptor 50							104.0	105.0	105.0					X																	150349889		2116	4222	6338	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349889C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1834C>T	X.37:g.150349889C>T	ENSP00000218316:p.Pro612Ser						p.P612S	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1969	+	Acute lymphoblastic leukemia(192;6.56e-05)		612			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1834C>T	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.086887	0.00367	.	.	ENSG00000102195	ENST00000218316	T	0.68025	-0.3	3.33	2.02	0.26589	.	0.453885	0.16565	N	0.208862	T	0.29158	0.0725	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	10	0.02654	T	1	-2.6297	4.6398	0.12543	0.0:0.1533:0.0:0.8467	.	612	Q13585	MTR1L_HUMAN	S	612	ENSP00000218316:P612S	ENSP00000218316:P612S	P	+	1	0	GPR50	150100547	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.789000	0.26886	0.491000	0.27793	-0.513000	0.04457	CCT		PASS	0.458	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		62	40	62	40	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150842410	150842410	+	Missense_Mutation	SNP	G	G	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:150842410G>A	ENST00000370357.4	+	15	2172	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	643						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.E643K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTTATCCTGAGGCGTATCA	0.468																																						uc004fev.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1927-1929)GAG>AAG		PAS domain containing 1							113.0	96.0	102.0					X																	150842410		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150842410G>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1927G>A	X.37:g.150842410G>A	ENSP00000359382:p.Glu643Lys						p.E643K	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			15	2259	+	Acute lymphoblastic leukemia(192;6.56e-05)		643					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1927G>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	8.837	0.941369	0.18281	.	.	ENSG00000166049	ENST00000370357	T	0.35789	1.29	3.23	-0.795	0.10915	.	.	.	.	.	T	0.18002	0.0432	N	0.14661	0.345	0.09310	N	1	B	0.30851	0.297	B	0.24394	0.053	T	0.13335	-1.0513	9	0.62326	D	0.03	-2.224	6.4435	0.21863	0.6005:0.0:0.3995:0.0	.	643	Q8IV76	PASD1_HUMAN	K	643	ENSP00000359382:E643K	ENSP00000359382:E643K	E	+	1	0	PASD1	150593066	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.278000	0.08490	-0.343000	0.08351	-0.295000	0.09555	GAG		PASS	0.468	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		36	12	36	12	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150908073	150908073	+	Missense_Mutation	SNP	C	C	A	rs144004735		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:150908073C>A	ENST00000329903.4	+	3	276	c.243C>A	c.(241-243)aaC>aaA	p.N81K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	81					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.N81K(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGGCCAACAAGAATTTCC	0.527													C||||C|||	1|1	0.000264901|0.000264901	0.0|0.0	0.0|0.0	3775|3775	,|,	,|,		14292|14292	0.0|0.0		0.0|0.0	False|False		,,,|,,,				2504|2504	0.001|0.001					uc004fey.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(241-243)AAC>AAA		cyclic nucleotide gated channel alpha 2							113.0	88.0	97.0					X																	150908073		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150908073C>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.243C>A	X.37:g.150908073C>A	ENSP00000328478:p.Asn81Lys						p.N81K	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			4	467	+	Acute lymphoblastic leukemia(192;6.56e-05)		81			Cytoplasmic (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.243C>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662618	0.47572	.	.	ENSG00000183862	ENST00000329903	T	0.40476	1.03	5.25	4.37	0.52481	.	0.225320	0.47455	D	0.000234	T	0.35998	0.0951	L	0.47190	1.495	0.39112	D	0.961495	B	0.12630	0.006	B	0.14023	0.01	T	0.31420	-0.9944	10	0.51188	T	0.08	.	11.35	0.49583	0.0:0.9028:0.0:0.0972	.	81	Q16280	CNGA2_HUMAN	K	81	ENSP00000328478:N81K	ENSP00000328478:N81K	N	+	3	2	CNGA2	150658729	1.000000	0.71417	0.994000	0.49952	0.914000	0.54420	2.775000	0.47702	2.338000	0.79540	0.529000	0.55759	AAC		PASS	0.527	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		26	4	26	4	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151821602	151821602	+	Missense_Mutation	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:151821602C>A	ENST00000370306.2	+	9	1777	c.1757C>A	c.(1756-1758)cCt>cAt	p.P586H		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	586					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.P586H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCCCCAAGCCCTGGGTGCTCC	0.532																																						uc004ffp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1756-1758)CCT>CAT		gamma-aminobutyric acid (GABA) receptor, theta							107.0	95.0	99.0					X																	151821602		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821602C>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1757C>A	X.37:g.151821602C>A	ENSP00000359329:p.Pro586His						p.P586H	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			9	1777	+	Acute lymphoblastic leukemia(192;6.56e-05)		586					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1757C>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622260	0.28889	.	.	ENSG00000147402	ENST00000370306;ENST00000333733	D	0.84223	-1.82	4.98	4.12	0.48240	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.734634	0.12281	N	0.482873	D	0.88366	0.6417	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.77443	-0.2586	10	0.87932	D	0	.	8.0678	0.30672	0.0:0.8889:0.0:0.1111	.	586	Q9UN88	GBRT_HUMAN	H	586;111	ENSP00000359329:P586H	ENSP00000331410:P111H	P	+	2	0	GABRQ	151572258	1.000000	0.71417	0.090000	0.20809	0.177000	0.22998	1.104000	0.31074	1.203000	0.43233	0.600000	0.82982	CCT		PASS	0.532	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		35	8	35	8	---	---	---	---
PNMA3	29944	broad.mit.edu	37	X	152225749	152225749	+	Nonsense_Mutation	SNP	G	G	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:152225749G>T	ENST00000370264.4	+	1	363	c.337G>T	c.(337-339)Gag>Tag	p.E113*	PNMA3_ENST00000447306.1_Nonsense_Mutation_p.E113*|PNMA3_ENST00000370265.4_Nonsense_Mutation_p.E113*			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	113					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E113*(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cttagaggaggagaggcggac	0.532																																						uc004fhc.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|large_intestine(1)	3						c.(337-339)GAG>TAG		paraneoplastic cancer-testis-brain antigen							42.0	46.0	45.0					X																	152225749		2203	4299	6502	SO:0001587	stop_gained	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152225749G>T	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.337G>T	X.37:g.152225749G>T	ENSP00000359286:p.Glu113*					PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	p.E113*	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN			2	673	+	Acute lymphoblastic leukemia(192;6.56e-05)		113					D3DWT7|Q9H0A4	Nonsense_Mutation	SNP	ENST00000370264.4	37	c.337G>T	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	36	5.905153	0.97087	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	.	.	.	1.93	1.01	0.19927	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.6844	0.17794	0.0:0.3396:0.6604:0.0	.	.	.	.	X	113	.	ENSP00000359286:E113X	E	+	1	0	PNMA3	151976405	0.006000	0.16342	0.009000	0.14445	0.530000	0.34684	0.195000	0.17155	0.265000	0.21872	0.411000	0.27672	GAG		PASS	0.532	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		35	17	35	17	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153581667	153581667	+	Missense_Mutation	SNP	C	C	T	rs200956777		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrX:153581667C>T	ENST00000369850.3	-	37	6255	c.6019G>A	c.(6019-6021)Gtg>Atg	p.V2007M	FLNA_ENST00000344736.4_Missense_Mutation_p.V1967M|FLNA_ENST00000369856.3_Missense_Mutation_p.V140M|FLNA_ENST00000422373.1_Missense_Mutation_p.V1999M|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.V1999M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2007					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.V2007M(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCTTACCCACGTGGCCATTA	0.637																																						uc004fkk.2																			1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(6019-6021)GTG>ATG		filamin A, alpha isoform 2							61.0	69.0	66.0					X																	153581667		2106	4186	6292	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581667C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6019G>A	X.37:g.153581667C>T	ENSP00000358866:p.Val2007Met					FLNA_uc004fki.2_Missense_Mutation_p.V50M|FLNA_uc011mzn.1_Missense_Mutation_p.V140M|FLNA_uc010nuu.1_Missense_Mutation_p.V1999M	p.V2007M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			37	6268	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2007			Filamin 18.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.6019G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	9.772	1.172974	0.21704	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	T;T;T;D;T	0.84873	0.95;0.95;0.95;-1.91;0.95	5.42	3.67	0.42095	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.87900	0.6294	L	0.44542	1.39	0.48395	D	0.999641	D;D;D;D	0.89917	1.0;0.957;0.982;0.982	D;P;P;P	0.85130	0.997;0.5;0.548;0.548	D	0.86210	0.1624	10	0.59425	D	0.04	.	9.5444	0.39271	0.0:0.7481:0.0:0.2519	.	140;1999;2007;2007	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	M	1999;1999;2007;140;1967	ENSP00000353467:V1999M;ENSP00000416926:V1999M;ENSP00000358866:V2007M;ENSP00000358872:V140M;ENSP00000358863:V1967M	ENSP00000358863:V1967M	V	-	1	0	FLNA	153234861	1.000000	0.71417	0.994000	0.49952	0.079000	0.17450	1.312000	0.33574	0.499000	0.27970	-0.494000	0.04653	GTG		PASS	0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			26	18	26	18	---	---	---	---
TSPY1	7258	broad.mit.edu	37	Y	9305960	9305960	+	Silent	SNP	C	C	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chrY:9305960C>A	ENST00000451548.1	+	3	662	c.616C>A	c.(616-618)Cgg>Agg	p.R206R	AC006156.1_ENST00000450145.1_Intron|AC006156.1_ENST00000423213.1_Intron|TSPY1_ENST00000423647.2_Silent_p.R212R|TSPY3_ENST00000440483.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1	206					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R206R(1)		lung(4)	4						GTTGTTCTTTCGGAGTAACCC	0.478																																						uc004frw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(616-618)CGG>AGG		testis specific protein, Y-linked 1							32.0	23.0	25.0					Y																	9305960		545	1795	2340	SO:0001819	synonymous_variant	7258				cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	g.chrY:9305960C>A		CCDS48205.1, CCDS76071.1	Yp11.2	2009-08-06	2004-04-05	2004-04-07					12381	protein-coding gene	gene with protein product	"""cancer/testis antigen 78"""	480100	"""testis specific protein, Y-linked"""	TSPY			Standard	NM_003308		Approved	CT78	uc004frw.4	Q01534		ENST00000451548.1:c.616C>A	Y.37:g.9305960C>A						TSPY1_uc004frx.3_Silent_p.R206R|TSPY1_uc010nwp.1_Intron	p.R206R	NM_003308	NP_003299	Q01534	TSPY1_HUMAN			3	662	+			206					A6NJD2|O00216|P09002|Q0VAD3|Q9UNN7	Silent	SNP	ENST00000451548.1	37	c.616C>A	CCDS48205.1																																																																																				PASS	0.478	TSPY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413463.1	NM_003308		34	142	34	142	---	---	---	---
MEAF6	64769	broad.mit.edu	37	1	37961483	37961484	+	Intron	INS	-	-	A			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr1:37961483_37961484insA	ENST00000296214.5	-	6	595				MEAF6_ENST00000373075.2_Intron|MEAF6_ENST00000448519.2_3'UTR|MEAF6_ENST00000475828.1_Intron|MEAF6_ENST00000373074.1_Intron|MEAF6_ENST00000373073.4_Intron	NM_001270875.1	NP_001257804.1	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GGCTGATACTTACAGCTCGTGG	0.371																																						uc001cbg.1																			0					0						c.e6+1		MYST/Esa1-associated factor 6																																				SO:0001627	intron_variant	64769				histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding	g.chr1:37961483_37961484insA	BC016328	CCDS418.1, CCDS59195.1, CCDS59196.1	1p35.3-p33	2011-08-12	2009-07-13	2009-07-13	ENSG00000163875	ENSG00000163875			25674	protein-coding gene	gene with protein product	"""Esa1p-associated factor 6 homolog (S. cerevisiae)"", ""centromere protein 28"""	611001	"""chromosome 1 open reading frame 149"""	C1orf149		8619474, 9110174, 12963728, 14966270, 16387653	Standard	NM_022756		Approved	NY-SAR-91, FLJ11730, Eaf6, CENP-28	uc001cbe.2	Q9HAF1	OTTHUMG00000004223	ENST00000296214.5:c.567+1->T	1.37:g.37961484_37961484dupA						MEAF6_uc001cbd.1_Splice_Site_p.A167_splice|MEAF6_uc001cbe.1_Splice_Site_p.A199_splice|MEAF6_uc009vvd.1_Splice_Site|MEAF6_uc001cbf.1_Splice_Site	p.A189_splice	NM_022756	NP_073593	Q9HAF1	EAF6_HUMAN			6	584	-								B1AK64|Q4F967|Q7Z311|Q86WE3	Splice_Site	INS	ENST00000296214.5	37	c.567_splice	CCDS59196.1																																																																																					0.371	MEAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012161.1	NM_022756		47	21	47	21	---	---	---	---
CTD-2066L21.3	0	broad.mit.edu	37	5	33162897	33162897	+	lincRNA	DEL	C	C	-			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:33162897delC	ENST00000510327.1	-	0	346																											AAAATCAAGGCCCGGAAAGGC	0.448																																						uc003jhx.2																			0													full-length cDNA clone CS0DI021YI22 of Placenta Cot 25-normalized of Homo sapiens (human).																																						0							g.chr5:33162897delC																													5.37:g.33162897delC														1		+									RNA	DEL	ENST00000510327.1	37	c.632delC																																																																																						0.448	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			8	15	8	15	---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52157370	52157371	+	Frame_Shift_Ins	INS	-	-	T			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:52157370_52157371insT	ENST00000282588.6	+	3	730_731	c.272_273insT	c.(271-276)ccttgtfs	p.C92fs		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	92					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAATCATTACCTTGTGTAAAGT	0.431																																						uc003jou.2																			0				ovary(2)|lung(1)	3						c.(271-273)CCTfs		integrin, alpha 1 precursor																																				SO:0001589	frameshift_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52157370_52157371insT	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.274dupT	5.37:g.52157372_52157372dupT	ENSP00000282588:p.Cys92fs					ITGA1_uc003jov.2_RNA	p.P91fs	NM_181501	NP_852478	P56199	ITA1_HUMAN			3	324_325	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	91			Extracellular (Potential).|FG-GAP 1.		B2RNU0	Frame_Shift_Ins	INS	ENST00000282588.6	37	c.272_273insT	CCDS3955.1																																																																																					0.431	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		27	13	27	13	---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134023936	134023945	+	Frame_Shift_Del	DEL	GTCTTCAGGA	GTCTTCAGGA	-	rs372634474		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr5:134023936_134023945delGTCTTCAGGA	ENST00000398844.2	+	11	1958_1967	c.1670_1679delGTCTTCAGGA	c.(1669-1680)ggtcttcaggaafs	p.GLQE557fs	SEC24A_ENST00000322887.4_Frame_Shift_Del_p.GLQE557fs	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	557					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATTTCTACGGTCTTCAGGAAAGTCTCTCT	0.31																																						uc003kzs.2																			0					0						c.(1669-1680)GGTCTTCAGGAAfs		SEC24 related gene family, member A																																				SO:0001589	frameshift_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134023936_134023945delGTCTTCAGGA	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1670_1679delGTCTTCAGGA	5.37:g.134023936_134023945delGTCTTCAGGA	ENSP00000381823:p.Gly557fs					SEC24A_uc011cxu.1_Frame_Shift_Del_p.G321fs	p.G557fs	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1958_1967	+			557_560					A8MVW3|Q8WUV2|Q96GP7	Frame_Shift_Del	DEL	ENST00000398844.2	37	c.1670_1679delGTCTTCAGGA	CCDS43363.1																																																																																					0.310	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			22	14	22	14	---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109802814	109802816	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr6:109802814_109802816delGTT	ENST00000230122.3	-	2	581_583	c.414_416delAAC	c.(412-417)acaact>act	p.138_139TT>T		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	138					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AGTGTTCAAAGTTGTTGGCTTTG	0.424																																						uc003ptl.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(412-417)ACAACT>ACT		zinc finger and BTB domain containing 24 isoform																																				SO:0001651	inframe_deletion	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802814_109802816delGTT	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.414_416delAAC	6.37:g.109802817_109802819delGTT	ENSP00000230122:p.Thr139del					ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_In_Frame_Del_p.138_139TT>T|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_In_Frame_Del_p.138_139TT>T	p.138_139TT>T	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	582_584	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	138_139					Q17RC6|Q5TED5|Q8N455	In_Frame_Del	DEL	ENST00000230122.3	37	c.414_416delAAC	CCDS34509.1																																																																																					0.424	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		104	46	104	46	---	---	---	---
LINC01606	100507651	broad.mit.edu	37	8	58144756	58144759	+	lincRNA	DEL	ACAC	ACAC	-	rs72235980		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr8:58144756_58144759delACAC	ENST00000519160.1	+	0	1853_1856					NR_038235.1																						CCCGacacatacacacacacacac	0.387																																						uc003xtf.2																			0													Homo sapiens mRNA; cDNA DKFZp434D1072 (from clone DKFZp434D1072).																																						0							g.chr8:58144756_58144759delACAC																													8.37:g.58144764_58144767delACAC														8		+									RNA	DEL	ENST00000519160.1	37	c.1853_1856delACAC																																																																																						0.387	RP11-513O17.2-005	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378675.1			4	4	4	4	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17369069	17369070	+	Frame_Shift_Ins	INS	-	-	C			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr10:17369069_17369070insC	ENST00000377602.4	-	6	652_653	c.578_579insG	c.(577-579)ggafs	p.G193fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	193					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.G193E(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TATTCAGAATTCCCCCATTTCC	0.391																																						uc001ipd.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(577-579)GGAfs		ST8 alpha-N-acetyl-neuraminide																																				SO:0001589	frameshift_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.chr10:17369069_17369070insC		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.579dupG	10.37:g.17369074_17369074dupC	ENSP00000366827:p.Gly193fs					ST8SIA6_uc010qce.1_Intron	p.G193fs	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			6	578_579	-			193			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Frame_Shift_Ins	INS	ENST00000377602.4	37	c.578_579insG	CCDS31158.1																																																																																					0.391	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		41	20	41	20	---	---	---	---
NPAS3	64067	broad.mit.edu	37	14	34270285	34270285	+	Frame_Shift_Del	DEL	G	G	-	rs376161343		TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:34270285delG	ENST00000356141.4	+	12	2772	c.2772delG	c.(2770-2772)gcgfs	p.A925fs	NPAS3_ENST00000346562.2_Frame_Shift_Del_p.A893fs|NPAS3_ENST00000357798.5_Frame_Shift_Del_p.A912fs|NPAS3_ENST00000548645.1_Frame_Shift_Del_p.A895fs|NPAS3_ENST00000551492.1_Frame_Shift_Del_p.A930fs			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	925					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCATCCACGCGGCACAGACTC	0.667																																						uc001wru.2																			0				ovary(1)|skin(1)	2						c.(2770-2772)GCGfs		neuronal PAS domain protein 3 isoform 3							9.0	9.0	9.0					14																	34270285		2187	4287	6474	SO:0001589	frameshift_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34270285delG	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2772delG	14.37:g.34270285delG	ENSP00000348460:p.Ala925fs					NPAS3_uc001wrs.2_Frame_Shift_Del_p.A911fs|NPAS3_uc001wrt.2_Frame_Shift_Del_p.A892fs|NPAS3_uc001wrv.2_Frame_Shift_Del_p.A894fs	p.A924fs	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	12	2836	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		924					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Frame_Shift_Del	DEL	ENST00000356141.4	37	c.2772delG	CCDS53891.1																																																																																					0.667	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			6	3	6	3	---	---	---	---
OTX2	5015	broad.mit.edu	37	14	57272080	57272080	+	Frame_Shift_Del	DEL	G	G	-			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:57272080delG	ENST00000555006.1	-	2	503	c.95delC	c.(94-96)ccgfs	p.P32fs	OTX2_ENST00000339475.5_Frame_Shift_Del_p.P32fs|OTX2_ENST00000408990.3_Frame_Shift_Del_p.P32fs|OTX2_ENST00000554559.1_Frame_Shift_Del_p.P32fs|OTX2_ENST00000554788.1_Frame_Shift_Del_p.P32fs			P32243	OTX2_HUMAN	orthodenticle homeobox 2	32					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TCACTTACCCGGGTAGCCCAC	0.597																																						uc001xcp.2																			0				ovary(1)	1						c.(94-96)CCGfs		orthodenticle homeobox 2 isoform b							99.0	84.0	89.0					14																	57272080		2203	4300	6503	SO:0001589	frameshift_variant	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57272080delG	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.95delC	14.37:g.57272080delG	ENSP00000452336:p.Pro32fs					OTX2_uc010aou.2_Frame_Shift_Del_p.P32fs|OTX2_uc001xcq.2_Frame_Shift_Del_p.P32fs	p.P32fs	NM_172337	NP_758840	P32243	OTX2_HUMAN			1	266	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		32					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Frame_Shift_Del	DEL	ENST00000555006.1	37	c.95delC	CCDS41960.1																																																																																					0.597	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		22	10	22	10	---	---	---	---
LOC100129345	100129345	broad.mit.edu	37	14	98112583	98112584	+	lincRNA	INS	-	-	T	rs184610567	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr14:98112583_98112584insT	ENST00000355909.3	-	0	539_540					NR_033943.1																						AAGCTCTGTGGTTTTTTTTTCT	0.416																																						uc001yfv.1																			0													human full-length cDNA clone CS0DI087YB20 of Placenta of Homo sapiens (human).																																						0							g.chr14:98112583_98112584insT																													14.37:g.98112592_98112592dupT														3		-									RNA	INS	ENST00000355909.3	37	c.540_541insA																																																																																						0.416	RP11-76E12.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000413543.2			4	2	4	2	---	---	---	---
Unknown	0	broad.mit.edu	37	15	21935593	21935593	+	IGR	DEL	A	A	-	rs111463627	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr15:21935593delA								RP11-854K16.3 (600169 upstream) : RP11-32B5.7 (5553 downstream)																							AATGAAAAACAAAAAGAACAA	0.348													aaaaa|AAAAA|AAAA|deletion	849	0.169529	0.0129	0.1527	5008	,	,		52322	0.2738		0.1809	False		,,,				2504	0.274					uc010tzj.1																			0					0								Homo sapiens mRNA for p21-activated kinase 2 variant protein.																																				SO:0001628	intergenic_variant	646214							g.chr15:21935593delA																													15.37:g.21935593delA								NR_027053						1		-									RNA	DEL		37	c.5147delT																																																																																				0		0.348									5	3	5	3	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578230	7578230	+	Frame_Shift_Del	DEL	C	C	-			TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr17:7578230delC	ENST00000269305.4	-	6	808	c.619delG	c.(619-621)gatfs	p.D208fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.D208fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D208fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.D208fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D208fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D208fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	208	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|DD -> EY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.D207N(3)|p.D207_R213delDDRNTFR(1)|p.D207fs*6(1)|p.D207_V216del10(1)|p.D207Y(1)|p.D114N(1)|p.E204fs*39(1)|p.D75N(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTTCTGTCATCCAAATACTCC	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		24	Whole gene deletion(8)|Substitution - Missense(6)|Unknown(5)|Deletion - In frame(3)|Deletion - Frameshift(2)	p.0?(7)|p.D207fs*6(2)|p.D207G(2)|p.K164_P219del(1)|p.D207_R213delDDRNTFR(1)|p.D207A(1)|p.D207fs*2(1)|p.D207_V216del10(1)|p.D207D(1)|p.D207E(1)|p.D207Y(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)	biliary_tract(5)|large_intestine(5)|bone(4)|central_nervous_system(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(619-621)GATfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							142.0	125.0	131.0					17																	7578230		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578230delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.619delG	17.37:g.7578230delC	ENSP00000269305:p.Asp208fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.D207fs|TP53_uc002gih.2_Frame_Shift_Del_p.D207fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.D75fs|TP53_uc010cng.1_Frame_Shift_Del_p.D75fs|TP53_uc002gii.1_Frame_Shift_Del_p.D75fs|TP53_uc010cnh.1_Frame_Shift_Del_p.D207fs|TP53_uc010cni.1_Frame_Shift_Del_p.D207fs|TP53_uc002gij.2_Frame_Shift_Del_p.D207fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.D114fs|TP53_uc002gio.2_Frame_Shift_Del_p.D75fs|TP53_uc010vug.1_Frame_Shift_Del_p.D168fs	p.D207fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	813	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	207		D -> E (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|DD -> EY (in a sporadic cancer; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.619delG	CCDS11118.1																																																																																					0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	17	14	17	---	---	---	---
ZNF787	126208	broad.mit.edu	37	19	56599438	56599440	+	In_Frame_Del	DEL	TCG	TCG	-	rs5828672|rs71696054	byFrequency	TCGA-46-3769-01A-01D-0983-08	TCGA-46-3769-10A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	108a1360-a545-4573-a775-49b3420814e2	1b748008-fc97-46f2-b9e4-1c21fa7ae544	g.chr19:56599438_56599440delTCG	ENST00000270459.3	-	3	1219_1221	c.1101_1103delCGA	c.(1099-1104)gacgag>gag	p.D367del		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCCGCGGCCTCGTCGTCGTCGT	0.778														4509	0.900359	0.9939	0.732	5008	,	,		3238	0.7252		0.9821	False		,,,				2504	0.9898					uc010eth.1																			0				pancreas(1)	1						c.e3+1		zinc finger protein 787																																				SO:0001651	inframe_deletion	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56599438_56599440delTCG	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.1101_1103delCGA	19.37:g.56599447_56599449delTCG	ENSP00000270459:p.Asp367del						p.E367_splice	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	1219	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)						O00455	Splice_Site	DEL	ENST00000270459.3	37	c.1100_splice	CCDS42634.1																																																																																					0.778	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		2	4	2	4	---	---	---	---
