#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
PRAMEF2	65122	broad.mit.edu	37	1	12921337	12921337	+	Silent	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:12921337C>T	ENST00000240189.2	+	4	1215	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	376					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.C376C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGCTGCTGCTCCCAGCTCA	0.562																																						uc001aum.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1126-1128)TGC>TGT		PRAME family member 2							111.0	117.0	115.0					1																	12921337		2201	4295	6496	SO:0001819	synonymous_variant	65122							g.chr1:12921337C>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1128C>T	1.37:g.12921337C>T							p.C376C	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1215	+	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)	376						Silent	SNP	ENST00000240189.2	37	c.1128C>T	CCDS149.1																																																																																				PASS	0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		47	179	47	179	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	17991036	17991036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:17991036G>A	ENST00000361221.3	+	26	3114	c.2955G>A	c.(2953-2955)tgG>tgA	p.W985*	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Nonsense_Mutation_p.W946*|ARHGEF10L_ENST00000434513.1_Nonsense_Mutation_p.W980*|ARHGEF10L_ENST00000167825.4_Nonsense_Mutation_p.W688*|ARHGEF10L_ENST00000375415.1_Nonsense_Mutation_p.W946*|ARHGEF10L_ENST00000375408.3_Nonsense_Mutation_p.W758*	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	985						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.W985*(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATGCCGTGTGGGCCAGCTGTG	0.667																																						uc001ban.2																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(2953-2955)TGG>TGA		Rho guanine nucleotide exchange factor (GEF)							51.0	49.0	50.0					1																	17991036		2203	4300	6503	SO:0001587	stop_gained	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17991036G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2955G>A	1.37:g.17991036G>A	ENSP00000355060:p.Trp985*					ARHGEF10L_uc009vpe.1_Nonsense_Mutation_p.W946*|ARHGEF10L_uc001bao.2_Nonsense_Mutation_p.W946*|ARHGEF10L_uc001bap.2_Nonsense_Mutation_p.W941*|ARHGEF10L_uc001baq.2_Nonsense_Mutation_p.W746*|ARHGEF10L_uc010ocs.1_Nonsense_Mutation_p.W758*|ARHGEF10L_uc001bar.2_Nonsense_Mutation_p.W688*|ARHGEF10L_uc009vpf.2_RNA	p.W985*	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	26	3114	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	985					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Nonsense_Mutation	SNP	ENST00000361221.3	37	c.2955G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	40	8.507305	0.98841	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	.	.	.	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.522	15.5245	0.75890	0.0:0.0:1.0:0.0	.	.	.	.	X	985;946;980;946;758;758;688	.	ENSP00000167825:W688X	W	+	3	0	ARHGEF10L	17863623	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	8.027000	0.88791	2.063000	0.61619	0.462000	0.41574	TGG		PASS	0.667	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		15	9	15	9	---	---	---	---
TAS1R2	80834	broad.mit.edu	37	1	19180803	19180803	+	Silent	SNP	G	G	A	rs139739080		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:19180803G>A	ENST00000375371.3	-	3	1182	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	387					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.S387S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGAGTACACGCTGTAGACGA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20871	0.0		0.0	False		,,,				2504	0.0					uc001bba.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1159-1161)AGC>AGT		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						109.0	97.0	101.0					1																	19180803		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19180803G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1161C>T	1.37:g.19180803G>A							p.S387S	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	1162	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	387			Extracellular (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1161C>T	CCDS187.1																																																																																				PASS	0.592	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			10	27	10	27	---	---	---	---
HMGN2	3151	broad.mit.edu	37	1	26801131	26801131	+	Silent	SNP	A	A	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:26801131A>T	ENST00000361427.5	+	5	304	c.210A>T	c.(208-210)gcA>gcT	p.A70A	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	70						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A70A(1)		breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ATAACCCTGCAGAAAATGGAG	0.408																																						uc001bmp.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(208-210)GCA>GCT		high-mobility group nucleosomal binding domain							30.0	34.0	32.0					1																	26801131		2191	4295	6486	SO:0001819	synonymous_variant	3151				chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding	g.chr1:26801131A>T	BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.210A>T	1.37:g.26801131A>T						HMGN2_uc009vsk.2_Silent_p.A55A|HMGN2_uc001bmq.3_Missense_Mutation_p.Q104L	p.A70A	NM_005517	NP_005508	P05204	HMGN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	5	412	+		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	70					Q0VGD5|Q6FGI5|Q96C64	Silent	SNP	ENST00000361427.5	37	c.210A>T	CCDS283.1																																																																																				PASS	0.408	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009901.1	NM_005517		4	17	4	17	---	---	---	---
UTP11L	51118	broad.mit.edu	37	1	38483404	38483404	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:38483404G>T	ENST00000373014.4	+	3	251	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	UTP11L_ENST00000537711.1_Missense_Mutation_p.D64Y|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	64					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.D64Y(1)		NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAAAATCCAGATGAATTCTA	0.403																																						uc001ccn.3																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GAT>TAT		UTP11-like, U3 small nucleolar							78.0	88.0	85.0					1																	38483404		2202	4300	6502	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38483404G>T	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.190G>T	1.37:g.38483404G>T	ENSP00000362105:p.Asp64Tyr					UTP11L_uc009vvm.2_5'UTR|UTP11L_uc010oil.1_RNA|UTP11L_uc001cco.3_5'UTR	p.D64Y	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN			3	281	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	64					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.190G>T	CCDS429.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013504	0.93346	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90167	0.6927	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91970	0.5586	9	0.87932	D	0	0.4238	20.4745	0.99168	0.0:0.0:1.0:0.0	.	64	Q9Y3A2	UTP11_HUMAN	Y	64	.	ENSP00000362105:D64Y	D	+	1	0	UTP11L	38255991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.139000	0.89615	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.403	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		17	26	17	26	---	---	---	---
DPH2	1802	broad.mit.edu	37	1	44435860	44435860	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:44435860T>C	ENST00000255108.3	+	1	185	c.13T>C	c.(13-15)Ttt>Ctt	p.F5L	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.F5L	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	5					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)		p.F5L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGAGTCGATGTTTAGCAGCCC	0.657																																						uc001ckz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13-15)TTT>CTT		diphthamide biosynthesis protein 2 isoform a							46.0	46.0	46.0					1																	44435860		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44435860T>C	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.13T>C	1.37:g.44435860T>C	ENSP00000255108:p.Phe5Leu					DPH2_uc001cla.2_Missense_Mutation_p.F5L|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR	p.F5L	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			1	208	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	5					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.13T>C	CCDS504.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576039	0.28092	.	.	ENSG00000132768	ENST00000255108;ENST00000396758	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	L	0.51422	1.61	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.54759	0.76;0.76	T	0.51996	-0.8634	9	0.25106	T	0.35	-14.4745	9.3711	0.38254	0.0:0.0844:0.0:0.9156	.	5;5	A8MVC9;Q9BQC3	.;DPH2_HUMAN	L	5	.	ENSP00000255108:F5L	F	+	1	0	DPH2	44208447	0.994000	0.37717	0.976000	0.42696	0.126000	0.20510	1.627000	0.37050	2.108000	0.64289	0.378000	0.23410	TTT		PASS	0.657	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		19	32	19	32	---	---	---	---
GBP6	163351	broad.mit.edu	37	1	89845989	89845989	+	Missense_Mutation	SNP	A	A	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:89845989A>T	ENST00000370456.4	+	6	763	c.670A>T	c.(670-672)Atc>Ttc	p.I224F	GBP6_ENST00000535065.1_Missense_Mutation_p.I94F	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	224	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I224F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CAGGGAGTGCATCAGGCGTTT	0.413																																						uc001dnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(670-672)ATC>TTC		guanylate binding protein family, member 6							90.0	89.0	89.0					1																	89845989		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89845989A>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.670A>T	1.37:g.89845989A>T	ENSP00000359485:p.Ile224Phe					GBP6_uc010ost.1_Missense_Mutation_p.I94F	p.I224F	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	6	944	+		Lung NSC(277;0.0908)	224					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.670A>T	CCDS723.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.576650	0.45902	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.81247	-1.47;-1.47	4.54	4.54	0.55810	Guanylate-binding protein, N-terminal (1);	0.293099	0.29192	N	0.012878	D	0.90903	0.7141	H	0.97340	3.985	0.45648	D	0.998575	D	0.71674	0.998	D	0.65010	0.931	D	0.93307	0.6681	10	0.87932	D	0	-19.87	11.8263	0.52269	1.0:0.0:0.0:0.0	.	224	Q6ZN66	GBP6_HUMAN	F	195;224;94	ENSP00000359485:I224F;ENSP00000442530:I94F	ENSP00000359485:I224F	I	+	1	0	GBP6	89618577	1.000000	0.71417	0.114000	0.21550	0.107000	0.19398	3.235000	0.51328	1.659000	0.50751	0.482000	0.46254	ATC		PASS	0.413	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		35	52	35	52	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98293701	98293701	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:98293701C>A	ENST00000370192.3	-	3	302	c.202G>T	c.(202-204)Ggt>Tgt	p.G68C	DPYD_ENST00000423006.2_Missense_Mutation_p.G31C|DPYD_ENST00000306031.5_Missense_Mutation_p.G68C	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	68					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.G68C(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CCTCGCTCACCAAGAGTCGTG	0.393																																						uc001drv.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|breast(2)	8						c.(202-204)GGT>TGT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						104.0	93.0	97.0					1																	98293701		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98293701C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.202G>T	1.37:g.98293701C>A	ENSP00000359211:p.Gly68Cys					DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.G68C	p.G68C	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	3	339	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	68					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.202G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575119	0.45902	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	D;D;D	0.84146	-1.81;-1.81;-1.81	5.68	3.8	0.43715	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.110198	0.64402	D	0.000007	D	0.84061	0.5389	L	0.39898	1.24	0.38596	D	0.950531	D;D	0.76494	0.999;0.997	D;P	0.71414	0.973;0.853	D	0.86114	0.1564	10	0.66056	D	0.02	-13.8663	10.957	0.47364	0.0:0.786:0.0:0.214	.	68;68	E9PFN1;Q12882	.;DPYD_HUMAN	C	68;31;68	ENSP00000359211:G68C;ENSP00000398884:G31C;ENSP00000307107:G68C	ENSP00000307107:G68C	G	-	1	0	DPYD	98066289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.616000	0.36933	1.404000	0.46819	0.563000	0.77884	GGT		PASS	0.393	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		22	34	22	34	---	---	---	---
EXTL2	2135	broad.mit.edu	37	1	101339863	101339863	+	Missense_Mutation	SNP	T	T	C	rs141823466		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:101339863T>C	ENST00000370114.3	-	5	2064	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	EXTL2_ENST00000370113.3_Missense_Mutation_p.M210V|EXTL2_ENST00000535414.1_Missense_Mutation_p.M197V	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	210					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.M210V(1)|p.M218V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		ATCAGCACCATAGAGTACTGG	0.408													T|||	1	0.000199681	0.0	0.0	5008	,	,		19850	0.001		0.0	False		,,,				2504	0.0					uc001dtk.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(628-630)ATG>GTG		exostoses-like 2		T	VAL/MET,VAL/MET	0,4406		0,0,2203	47.0	46.0	46.0		628,628	0.8	0.5	1	dbSNP_134	46	5,8593	4.3+/-15.6	0,5,4294	yes	missense,missense	EXTL2	NM_001033025.1,NM_001439.2	21,21	0,5,6497	CC,CT,TT		0.0582,0.0,0.0384	benign,benign	210/331,210/331	101339863	5,12999	2203	4299	6502	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339863T>C	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.628A>G	1.37:g.101339863T>C	ENSP00000359132:p.Met210Val					EXTL2_uc001dtl.1_Missense_Mutation_p.M210V|EXTL2_uc010ouk.1_Missense_Mutation_p.M197V|EXTL2_uc001dtm.1_Missense_Mutation_p.M209V	p.M210V	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	965	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	210			Lumenal (Potential).		B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.628A>G	CCDS775.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	13.63	2.295064	0.40594	0.0	5.82E-4	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.88	0.783	0.18572	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.072716	0.85682	D	0.000000	T	0.78304	0.4262	M	0.81497	2.545	0.52501	D	0.999959	P;P	0.35612	0.512;0.512	B;B	0.31245	0.126;0.126	T	0.73344	-0.4012	10	0.87932	D	0	-14.0676	4.5074	0.11894	0.1105:0.0623:0.2456:0.5816	.	209;210	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	V	210;210;197;218	ENSP00000359132:M210V;ENSP00000359131:M210V;ENSP00000444385:M197V;ENSP00000403363:M218V	ENSP00000359131:M210V	M	-	1	0	EXTL2	101112451	0.997000	0.39634	0.502000	0.27614	0.955000	0.61496	2.699000	0.47077	-0.107000	0.12088	0.482000	0.46254	ATG		PASS	0.408	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		22	45	22	45	---	---	---	---
CHIA	27159	broad.mit.edu	37	1	111857928	111857928	+	Silent	SNP	G	G	A	rs150698600	byFrequency	TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:111857928G>A	ENST00000369740.1	+	6	454	c.351G>A	c.(349-351)caG>caA	p.Q117Q	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Silent_p.Q9Q|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Silent_p.Q117Q|CHIA_ENST00000451398.2_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	117					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.Q117Q(1)|p.Q9Q(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AGAACCGCCAGACTTTCATCA	0.537																																						uc001eas.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(349-351)CAG>CAA		acidic chitinase isoform c		G	,	0,4406		0,0,2203	129.0	126.0	127.0		27,351	3.8	1.0	1	dbSNP_134	127	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CHIA	NM_021797.2,NM_201653.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	9/369,117/477	111857928	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111857928G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.351G>A	1.37:g.111857928G>A						CHIA_uc001ear.2_Silent_p.Q9Q|CHIA_uc001eaq.2_Silent_p.Q9Q|CHIA_uc009wgc.2_Silent_p.Q9Q|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	p.Q117Q	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	6	454	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	117					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	c.351G>A	CCDS41368.1																																																																																				PASS	0.537	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			61	129	61	129	---	---	---	---
MRPL9	65005	broad.mit.edu	37	1	151732535	151732535	+	Silent	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:151732535G>C	ENST00000368830.3	-	7	879	c.795C>G	c.(793-795)ccC>ccG	p.P265P	MRPL9_ENST00000467306.1_5'UTR|OAZ3_ENST00000315067.8_5'Flank|MRPL9_ENST00000368829.3_Silent_p.P231P|RP11-98D18.15_ENST00000601684.1_RNA|OAZ3_ENST00000321531.5_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	265					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.P265P(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTAGATCTGGGGGCTGGTGG	0.527																																						uc001eyv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(793-795)CCC>CCG		mitochondrial ribosomal protein L9 precursor							50.0	51.0	51.0					1																	151732535		2203	4300	6503	SO:0001819	synonymous_variant	65005				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:151732535G>C	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.795C>G	1.37:g.151732535G>C						MRPL9_uc009wmz.2_RNA	p.P265P	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	880	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		265					B2RD99|Q5SZR2|Q9BSW8	Silent	SNP	ENST00000368830.3	37	c.795C>G	CCDS1003.1																																																																																				PASS	0.527	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		33	32	33	32	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152129212	152129212	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:152129212G>T	ENST00000316073.3	-	3	427	c.363C>A	c.(361-363)caC>caA	p.H121Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	121	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.H121Q(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						GCCTCTGTCTGTGTTGTCTGC	0.532																																						uc001ezs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CAC>CAA		repetin							506.0	417.0	444.0					1																	152129212		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129212G>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.363C>A	1.37:g.152129212G>T	ENSP00000317895:p.His121Gln						p.H121Q	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	428	-			121			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.363C>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431821	0.25813	.	.	ENSG00000215853	ENST00000316073	T	0.12255	2.7	4.62	-3.48	0.04739	.	.	.	.	.	T	0.01870	0.0059	L	0.33189	0.99	0.09310	N	1	B	0.17852	0.024	B	0.15484	0.013	T	0.46843	-0.9162	9	0.12103	T	0.63	-2.0127	2.6353	0.04956	0.2018:0.3548:0.3241:0.1193	.	121	Q6XPR3	RPTN_HUMAN	Q	121	ENSP00000317895:H121Q	ENSP00000317895:H121Q	H	-	3	2	RPTN	150395836	0.000000	0.05858	0.029000	0.17559	0.367000	0.29736	-0.924000	0.03996	-0.194000	0.10399	0.542000	0.68232	CAC		PASS	0.532	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		103	228	103	228	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283417	152283417	+	Missense_Mutation	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:152283417G>C	ENST00000368799.1	-	3	3980	c.3945C>G	c.(3943-3945)gaC>gaG	p.D1315E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1315	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D1315E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGGCTCTGTCTTCTTGAT	0.542									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3943-3945)GAC>GAG		filaggrin							229.0	217.0	221.0					1																	152283417		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283417G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3945C>G	1.37:g.152283417G>C	ENSP00000357789:p.Asp1315Glu					uc001ezv.2_5'Flank	p.D1315E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3981	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1315			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3945C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	2.906	-0.226403	0.06022	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	1.86	-3.71	0.04424	.	.	.	.	.	T	0.00496	0.0016	M	0.73962	2.25	0.09310	N	1	P	0.36222	0.544	B	0.34873	0.191	T	0.50600	-0.8809	9	0.02654	T	1	.	0.9973	0.01470	0.1395:0.1849:0.3018:0.3738	.	1315	P20930	FILA_HUMAN	E	1315	ENSP00000357789:D1315E	ENSP00000357789:D1315E	D	-	3	2	FLG	150550041	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	-0.086000	0.11233	-1.139000	0.02881	-1.249000	0.01516	GAC		PASS	0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		93	222	93	222	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152287908	152287908	+	Missense_Mutation	SNP	A	A	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:152287908A>C	ENST00000368799.1	-	2	60	c.25T>G	c.(25-27)Ttt>Gtt	p.F9V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	9	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.F9V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTATGGCAAAGATGTTTTCC	0.299									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(25-27)TTT>GTT		filaggrin							84.0	84.0	84.0					1																	152287908		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287908A>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.25T>G	1.37:g.152287908A>C	ENSP00000357789:p.Phe9Val					uc001ezv.2_Intron	p.F9V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	61	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		9			EF-hand 1.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.25T>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726959	0.30593	.	.	ENSG00000143631	ENST00000368799	T	0.09445	2.98	5.2	-0.806	0.10875	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.00552	0.0018	N	0.00483	-1.445	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45687	-0.9244	9	0.15499	T	0.54	-1.0233	0.5767	0.00704	0.1705:0.2483:0.1697:0.4115	.	9	P20930	FILA_HUMAN	V	9	ENSP00000357789:F9V	ENSP00000357789:F9V	F	-	1	0	FLG	150554532	0.002000	0.14202	0.116000	0.21606	0.000000	0.00434	-0.187000	0.09656	-0.010000	0.14271	-1.356000	0.01223	TTT		PASS	0.299	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		13	79	13	79	---	---	---	---
ARHGEF2	9181	broad.mit.edu	37	1	155921325	155921325	+	Splice_Site	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:155921325C>T	ENST00000361247.4	-	19	2308		c.e19-1		ARHGEF2_ENST00000462460.2_Splice_Site|ARHGEF2_ENST00000313695.7_Splice_Site|ARHGEF2_ENST00000368316.1_Splice_Site|ARHGEF2_ENST00000368315.4_Splice_Site|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Splice_Site	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(2)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTAACGCCTCCTGAGGACAGA	0.557																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e19-1		Rho/Rac guanine nucleotide exchange factor 2							111.0	108.0	109.0					1																	155921325		2203	4300	6503	SO:0001630	splice_region_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155921325C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2209-1G>A	1.37:g.155921325C>T						ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Splice_Site_p.E709_splice|ARHGEF2_uc001fms.2_Splice_Site_p.E736_splice|ARHGEF2_uc001fmu.2_Splice_Site_p.E781_splice	p.E737_splice	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			19	2327	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)							D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Splice_Site	SNP	ENST00000361247.4	37	c.2209_splice	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407249	0.62399	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3591	0.83246	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF2	154187949	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.321000	0.59209	2.713000	0.92767	0.655000	0.94253	.		PASS	0.557	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723	Intron	102	98	102	98	---	---	---	---
SLAMF6	114836	broad.mit.edu	37	1	160465906	160465906	+	Silent	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:160465906G>T	ENST00000368057.3	-	2	387	c.327C>A	c.(325-327)gcC>gcA	p.A109A	SLAMF6_ENST00000368059.3_Silent_p.A109A|SLAMF6_ENST00000368055.1_Intron			Q96DU3	SLAF6_HUMAN	SLAM family member 6	109	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A109A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGGATATCTGGGCTCTGTAAG	0.438																																						uc001fwe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(325-327)GCC>GCA		activating NK receptor precursor							161.0	153.0	156.0					1																	160465906		2203	4300	6503	SO:0001819	synonymous_variant	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160465906G>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.327C>A	1.37:g.160465906G>T						SLAMF6_uc001fwd.1_Silent_p.A109A|SLAMF6_uc010pjh.1_Silent_p.A60A|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Silent_p.A60A	p.A109A	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	387	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		109			Extracellular (Potential).		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Silent	SNP	ENST00000368057.3	37	c.327C>A	CCDS53394.1																																																																																				PASS	0.438	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		125	105	125	105	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171548569	171548570	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:171548569_171548570GG>TT	ENST00000338920.4	+	27	7467_7468	c.7230_7231GG>TT	c.(7228-7233)ttGGct>ttTTct	p.2410_2411LA>FS	PRRC2C_ENST00000392078.3_Missense_Mutation_p.2412_2413LA>FS|PRRC2C_ENST00000426496.2_Missense_Mutation_p.2345_2346LA>FS|PRRC2C_ENST00000367742.3_Missense_Mutation_p.2412_2413LA>FS	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2410	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.A2413S(2)|p.L2412F(2)|p.L2412_A2413>FS(2)									CGCCATCCTTGGCTCAACAACA	0.421																																						uc010pmg.1																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)		0						c.(7228-7230)TTG>TTT|c.(7231-7233)GCT>TCT		HBxAg transactivated protein 2																																				SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171548569G>T|g.chr1:171548570G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	Exception_encountered	1.37:g.171548569_171548570delinsTT	ENSP00000343629:p.L2410_A2411delinsFS					BAT2L2_uc010pmh.1_Missense_Mutation_p.L1322F|BAT2L2_uc010pmi.1_Missense_Mutation_p.L247F|BAT2L2_uc010pmj.1_5'Flank|BAT2L2_uc010pmh.1_Missense_Mutation_p.A1323S|BAT2L2_uc010pmi.1_Missense_Mutation_p.A248S|BAT2L2_uc010pmj.1_5'Flank	p.L2410F|p.A2411S	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			27	7496|7497	+			2410|2411			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.7230G>T|c.7231G>T	CCDS1296.2																																																																																				PASS	0.421	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		11	48|46	11	46	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176740254	176740254	+	Missense_Mutation	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:176740254C>G	ENST00000367662.3	+	17	5817	c.4653C>G	c.(4651-4653)atC>atG	p.I1551M		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1551	Sushi 3. {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.I1551M(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						TGGGCACCATCTGCAAATATG	0.483																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4651-4653)ATC>ATG		pappalysin 2 isoform 1							109.0	103.0	105.0					1																	176740254		2048	4205	6253	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176740254C>G	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.4653C>G	1.37:g.176740254C>G	ENSP00000356634:p.Ile1551Met					PAPPA2_uc009www.2_RNA	p.I1551M	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			17	5817	+			1551			Sushi 3.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4653C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079859	0.55753	.	.	ENSG00000116183	ENST00000367662	T	0.63580	-0.05	5.74	2.69	0.31865	Complement control module (2);Sushi/SCR/CCP (3);	0.759254	0.12532	N	0.460671	T	0.58032	0.2094	L	0.47716	1.5	0.80722	D	1	P	0.45715	0.865	P	0.47891	0.56	T	0.54456	-0.8291	10	0.48119	T	0.1	-2.0591	5.2747	0.15643	0.1364:0.5245:0.2649:0.0742	.	1551	Q9BXP8	PAPP2_HUMAN	M	1551	ENSP00000356634:I1551M	ENSP00000356634:I1551M	I	+	3	3	PAPPA2	175006877	0.997000	0.39634	0.925000	0.36789	0.927000	0.56198	1.283000	0.33237	0.764000	0.33197	0.655000	0.94253	ATC		PASS	0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			28	74	28	74	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178442279	178442279	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:178442279C>T	ENST00000462775.1	+	16	3450	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W	RASAL2_ENST00000448150.3_Missense_Mutation_p.R1239W|RASAL2_ENST00000367649.3_Missense_Mutation_p.R1250W	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1109					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGTGAAGGAGCGGTACAGCAT	0.537																																						uc001glr.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(2)|large_intestine(1)	5						c.(3325-3327)CGG>TGG		RAS protein activator like 2 isoform 1							180.0	152.0	161.0					1																	178442279		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178442279C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3325C>T	1.37:g.178442279C>T	ENSP00000420558:p.Arg1109Trp					RASAL2_uc001glq.2_Missense_Mutation_p.R1250W|RASAL2_uc009wxc.2_Missense_Mutation_p.A633V	p.R1109W	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			16	3450	+			1109					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.3325C>T	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755894|4.755894	0.89843|0.89843	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000367647|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.17691	.|2.26;2.26;2.26	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46092|0.46092	0.1375|0.1375	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.919	.|D;B	.|0.91635	.|0.999;0.27	T|T	0.37865|0.37865	-0.9687|-0.9687	6|10	0.87932|0.87932	D|D	0|0	.|.	19.635|19.635	0.95728|0.95728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1109;1250	.|Q9UJF2;F8W755	.|NGAP_HUMAN;.	V|W	62|1239;1250;1109	.|ENSP00000407768:R1239W;ENSP00000356621:R1250W;ENSP00000420558:R1109W	ENSP00000356619:A62V|ENSP00000356621:R1250W	A|R	+|+	2|1	0|2	RASAL2|RASAL2	176708902|176708902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.711000|7.711000	0.84669|0.84669	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCG|CGG		PASS	0.537	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		27	83	27	83	---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206634572	206634572	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:206634572T>C	ENST00000414007.1	+	19	2603	c.2603T>C	c.(2602-2604)tTc>tCc	p.F868S				O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1008	Ser-rich.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.F868S(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GAGCCCGCCTTCCAGCGCAGC	0.672																																						uc001hdy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2761-2763)TTC>TCC		SLIT-ROBO Rho GTPase activating protein 2							38.0	45.0	43.0					1																	206634572		2024	4167	6191	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206634572T>C	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2603T>C	1.37:g.206634572T>C	ENSP00000390898:p.Phe868Ser					SRGAP2_uc010pru.1_Missense_Mutation_p.F844S	p.F921S	NM_015326	NP_056141	O75044	FNBP2_HUMAN			20	3095	+	Breast(84;0.137)		1008						Missense_Mutation	SNP	ENST00000414007.1	37	c.2762T>C		.	.	.	.	.	.	.	.	.	.	T	15.30	2.794081	0.50102	.	.	ENSG00000163486	ENST00000414007	T	0.08102	3.13	5.66	5.66	0.87406	.	0.057145	0.64402	D	0.000001	T	0.20333	0.0489	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	T	0.02202	-1.1196	6	0.40728	T	0.16	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	.	.	.	S	868	ENSP00000390898:F868S	ENSP00000390898:F868S	F	+	2	0	SRGAP2	204701195	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.240000	0.72363	2.285000	0.76669	0.533000	0.62120	TTC		PASS	0.672	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		21	15	21	15	---	---	---	---
SMYD2	56950	broad.mit.edu	37	1	214501018	214501018	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:214501018G>T	ENST00000366957.5	+	7	678	c.656G>T	c.(655-657)gGg>gTg	p.G219V	SMYD2_ENST00000415093.2_Missense_Mutation_p.G219V|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	219	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)	p.G219V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ACCTACAAAGGGACCCTGGCA	0.488											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc010ptx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(655-657)GGG>GTG		SET and MYND domain containing 2							123.0	122.0	122.0					1																	214501018		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214501018G>T	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.656G>T	1.37:g.214501018G>T	ENSP00000355924:p.Gly219Val		OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2221	SMYD2_uc009xdj.2_Missense_Mutation_p.G127V|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA	p.G219V	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	7	689	+			219			SET.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.656G>T	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829698	0.91036	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	T;T	0.16196	2.36;2.36	5.84	5.84	0.93424	SET domain (3);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.953	T	0.50684	-0.8799	10	0.87932	D	0	-3.6923	20.1523	0.98091	0.0:0.0:1.0:0.0	.	219;203	Q9NRG4;Q05C86	SMYD2_HUMAN;.	V	219	ENSP00000355924:G219V;ENSP00000388682:G219V	ENSP00000355924:G219V	G	+	2	0	SMYD2	212567641	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.430000	0.97488	2.763000	0.94921	0.655000	0.94253	GGG		PASS	0.488	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		32	113	32	113	---	---	---	---
HLX	3142	broad.mit.edu	37	1	221053501	221053501	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:221053501C>T	ENST00000366903.6	+	1	1803	c.302C>T	c.(301-303)cCc>cTc	p.P101L	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	101	Pro-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P101L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GTGGTGGCGCCCTCCGAAGTC	0.697																																						uc001hmv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(301-303)CCC>CTC		H2.0-like homeobox							10.0	14.0	13.0					1																	221053501		2102	4156	6258	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221053501C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.302C>T	1.37:g.221053501C>T	ENSP00000355870:p.Pro101Leu						p.P101L	NM_021958	NP_068777	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	1	759	+			101			Pro-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.302C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	35	5.480004	0.96307	.	.	ENSG00000136630	ENST00000366903	T	0.34472	1.36	4.81	4.81	0.61882	.	0.244990	0.29876	N	0.010969	T	0.45296	0.1335	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54016	-0.8356	10	0.87932	D	0	-30.8079	18.0425	0.89323	0.0:1.0:0.0:0.0	.	101	Q14774	HLX_HUMAN	L	101	ENSP00000355870:P101L	ENSP00000355870:P101L	P	+	2	0	HLX	219120124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.771000	0.38542	2.657000	0.90304	0.655000	0.94253	CCC		PASS	0.697	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		3	12	3	12	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226567672	226567672	+	Silent	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:226567672C>T	ENST00000366794.5	-	10	1637	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	498	Automodification domain.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K498K(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CAGCCCCTGACTTCCCTCTTG	0.597								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1492-1494)AAG>AAA	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							75.0	82.0	80.0					1																	226567672		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226567672C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1494G>A	1.37:g.226567672C>T							p.K498K	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	10	1665	-	Breast(184;0.133)		498			Automodification domain.		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.1494G>A	CCDS1554.1																																																																																				PASS	0.597	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		52	113	52	113	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229770893	229770893	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:229770893G>A	ENST00000258243.2	+	4	669	c.533G>A	c.(532-534)gGc>gAc	p.G178D		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	178						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G178D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGGCCCTTGGCCATTATCTC	0.592																																						uc001hts.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(532-534)GGC>GAC		URB2 ribosome biogenesis 2 homolog							68.0	57.0	61.0					1																	229770893		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229770893G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.533G>A	1.37:g.229770893G>A	ENSP00000258243:p.Gly178Asp					URB2_uc009xfd.1_Missense_Mutation_p.G178D	p.G178D	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	669	+			178					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.533G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	5.316	0.243568	0.10077	.	.	ENSG00000135763	ENST00000258243	T	0.09255	3.0	5.68	4.76	0.60689	.	0.418179	0.29218	N	0.012784	T	0.06462	0.0166	L	0.27053	0.805	0.24846	N	0.99244	B	0.18461	0.028	B	0.15870	0.014	T	0.32161	-0.9917	9	.	.	.	-12.1642	3.6881	0.08336	0.1468:0.1323:0.5841:0.1368	.	178	Q14146	URB2_HUMAN	D	178	ENSP00000258243:G178D	.	G	+	2	0	URB2	227837516	0.145000	0.22656	0.990000	0.47175	0.966000	0.64601	1.608000	0.36847	1.529000	0.49120	0.650000	0.86243	GGC		PASS	0.592	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		27	79	27	79	---	---	---	---
NID1	4811	broad.mit.edu	37	1	236154191	236154191	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:236154191C>A	ENST00000264187.6	-	14	3005	c.2923G>T	c.(2923-2925)Gtc>Ttc	p.V975F	NID1_ENST00000366595.3_Missense_Mutation_p.V842F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	975					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.V975F(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CTCACCGGGACATGAAGGAAC	0.537																																						uc001hxo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(2923-2925)GTC>TTC		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						125.0	115.0	118.0					1																	236154191		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236154191C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2923G>T	1.37:g.236154191C>A	ENSP00000264187:p.Val975Phe					NID1_uc009xgd.2_Missense_Mutation_p.V842F|NID1_uc009xgc.2_Missense_Mutation_p.V61F	p.V975F	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		14	3025	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	975					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2923G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	8.111	0.778830	0.16120	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.30182	1.54;1.54	5.1	-1.8	0.07907	Six-bladed beta-propeller, TolB-like (1);	0.796339	0.12094	N	0.500171	T	0.16128	0.0388	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.26258	0.145;0.136	B;B	0.28465	0.074;0.09	T	0.23762	-1.0179	10	0.46703	T	0.11	.	7.1917	0.25828	0.0:0.3054:0.1256:0.569	.	842;975	P14543-2;P14543	.;NID1_HUMAN	F	975;842	ENSP00000264187:V975F;ENSP00000355554:V842F	ENSP00000264187:V975F	V	-	1	0	NID1	234220814	0.474000	0.25886	0.017000	0.16124	0.148000	0.21650	0.423000	0.21313	-0.276000	0.09206	-0.339000	0.08088	GTC		PASS	0.537	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		24	104	24	104	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237777617	237777617	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:237777617C>T	ENST00000366574.2	+	37	5506	c.5189C>T	c.(5188-5190)aCg>aTg	p.T1730M	RYR2_ENST00000542537.1_Missense_Mutation_p.T1714M|RYR2_ENST00000360064.6_Missense_Mutation_p.T1728M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1730	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.T1728M(2)		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)			GTCCCCATGACGGAGGAGACG	0.547																																						uc001hyl.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5188-5190)ACG>ATG		cardiac muscle ryanodine receptor							62.0	61.0	61.0					1																	237777617		2119	4241	6360	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.chr1:237777617C>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.5189C>T	1.37:g.237777617C>T	ENSP00000355533:p.Thr1730Met						p.T1730M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5309	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1730			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5189C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470495	0.84533	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74737	-0.87;-0.87;-0.87	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000008	D	0.84356	0.5454	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	D	0.84547	0.0642	10	0.52906	T	0.07	.	19.2592	0.93961	0.0:1.0:0.0:0.0	.	1730	Q92736	RYR2_HUMAN	M	1730;1728;1714	ENSP00000355533:T1730M;ENSP00000353174:T1728M;ENSP00000443798:T1714M	ENSP00000353174:T1728M	T	+	2	0	RYR2	235844240	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	7.776000	0.85560	2.563000	0.86464	0.650000	0.86243	ACG		PASS	0.547	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	50	13	50	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240497231	240497231	+	Silent	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:240497231C>T	ENST00000319653.9	+	12	4859	c.4629C>T	c.(4627-4629)ctC>ctT	p.L1543L	FMN2_ENST00000545751.1_Silent_p.L139L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1543	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.L1686L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGTATTATCTCCGAAATTTTG	0.284																																						uc010pyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4627-4629)CTC>CTT		formin 2							56.0	56.0	56.0					1																	240497231		2203	4298	6501	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240497231C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4629C>T	1.37:g.240497231C>T						FMN2_uc010pye.1_Silent_p.L1547L|FMN2_uc010pyf.1_Silent_p.L189L|FMN2_uc010pyg.1_Silent_p.L139L	p.L1543L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		12	4854	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1543			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.4629C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	8.369	0.834917	0.16820	.	.	ENSG00000155816	ENST00000406993	.	.	.	5.75	2.22	0.28083	.	.	.	.	.	T	0.60599	0.2281	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58446	-0.7635	5	0.59425	D	0.04	.	6.5442	0.22397	0.0:0.1626:0.451:0.3864	.	.	.	.	F	20	.	ENSP00000384983:S20F	S	+	2	0	FMN2	238563854	0.746000	0.28272	1.000000	0.80357	0.980000	0.70556	-0.250000	0.08830	0.447000	0.26695	-0.302000	0.09304	TCC		PASS	0.284	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		15	17	15	17	---	---	---	---
OR2C3	81472	broad.mit.edu	37	1	247695527	247695527	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:247695527C>A	ENST00000366487.3	-	2	648	c.287G>T	c.(286-288)gGa>gTa	p.G96V	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G95V(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CACACACCCTCCATAGCTTAT	0.562																																						uc009xgy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(286-288)GGA>GTA		olfactory receptor, family 2, subfamily C,							90.0	89.0	89.0					1																	247695527		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695527C>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.287G>T	1.37:g.247695527C>A	ENSP00000355443:p.Gly96Val					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.G96V	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	649	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	96			Extracellular (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.287G>T	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	8.425	0.847247	0.17034	.	.	ENSG00000196242	ENST00000366487	T	0.00392	7.58	4.04	-0.628	0.11537	GPCR, rhodopsin-like superfamily (1);	1.078780	0.07404	U	0.891245	T	0.00210	0.0006	N	0.17901	0.54	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.15983	-1.0418	10	0.30854	T	0.27	.	9.9262	0.41494	0.1393:0.2642:0.5964:0.0	.	96	Q8N628	OR2C3_HUMAN	V	96	ENSP00000355443:G96V	ENSP00000355443:G96V	G	-	2	0	OR2C3	245762150	0.000000	0.05858	0.002000	0.10522	0.845000	0.48019	-3.369000	0.00495	0.086000	0.17137	0.650000	0.86243	GGA		PASS	0.562	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		30	19	30	19	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875412	247875412	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:247875412C>A	ENST00000302084.2	-	1	693	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V216F(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)			ACATAGGAGACAAAGGTGATG	0.552																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(646-648)GTC>TTC		olfactory receptor, family 6, subfamily F,							131.0	115.0	121.0					1																	247875412		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875412C>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.646G>T	1.37:g.247875412C>A	ENSP00000305640:p.Val216Phe						p.V216F	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	646	-	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)		216			Helical; Name=5; (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.646G>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	4.808	0.150308	0.09185	.	.	ENSG00000169214	ENST00000302084	T	0.37752	1.18	3.72	0.619	0.17630	GPCR, rhodopsin-like superfamily (1);	0.377426	0.19102	N	0.122673	T	0.29126	0.0724	L	0.46947	1.48	0.09310	N	0.999997	P	0.35363	0.497	B	0.39503	0.301	T	0.18085	-1.0348	10	0.56958	D	0.05	-28.6549	4.3359	0.11087	0.1256:0.5841:0.1233:0.167	.	216	Q8NGZ6	OR6F1_HUMAN	F	216	ENSP00000305640:V216F	ENSP00000305640:V216F	V	-	1	0	OR6F1	245942035	0.000000	0.05858	0.016000	0.15963	0.000000	0.00434	-0.688000	0.05150	-0.212000	0.10109	-2.511000	0.00188	GTC		PASS	0.552	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		84	65	84	65	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247921568	247921568	+	Silent	SNP	C	C	T	rs200208817		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:247921568C>T	ENST00000408896.2	-	1	414	c.141G>A	c.(139-141)gcG>gcA	p.A47A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	47					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.A47A(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)			AGCCAATCGTCGCAATGATGA	0.488																																						uc010pza.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(139-141)GCG>GCA		olfactory receptor, family 1, subfamily C,							79.0	76.0	77.0					1																	247921568		2117	4237	6354	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921568C>T	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.141G>A	1.37:g.247921568C>T							p.A47A	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	141	-	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)	47			Helical; Name=1; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.141G>A	CCDS41481.1																																																																																				PASS	0.488	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			15	29	15	29	---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248201674	248201674	+	Silent	SNP	A	A	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:248201674A>T	ENST00000366479.2	+	1	201	c.105A>T	c.(103-105)ctA>ctT	p.L35L	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L35L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			TCATTTTCCTAATGGCTCTAA	0.373																																						uc001idw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(103-105)CTA>CTT		olfactory receptor, family 2, subfamily L,							208.0	200.0	203.0					1																	248201674		2202	4300	6502	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201674A>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.105A>T	1.37:g.248201674A>T						OR2L13_uc001ids.2_Intron	p.L35L	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	201	+	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)		35			Helical; Name=1; (Potential).		Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.105A>T	CCDS31103.1																																																																																				PASS	0.373	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		172	108	172	108	---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224524	248224524	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:248224524C>A	ENST00000359959.3	+	1	541	c.541C>A	c.(541-543)Cca>Aca	p.P181T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181T(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CTGTGATGTCCCAGCAATGGT	0.463																																						uc001idx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)CCA>ACA		olfactory receptor, family 2, subfamily L,							110.0	139.0	129.0					1																	248224524		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224524C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.541C>A	1.37:g.248224524C>A	ENSP00000353044:p.Pro181Thr					OR2L13_uc001ids.2_Intron	p.P181T	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	541	+	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)		181			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.541C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	10.10	1.257719	0.22965	.	.	ENSG00000198128	ENST00000359959	T	0.00211	8.54	2.05	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32852	U	0.005577	T	0.00210	0.0006	M	0.67397	2.05	0.09310	N	1	B	0.23540	0.087	B	0.34931	0.192	T	0.40136	-0.9579	10	0.72032	D	0.01	.	4.2499	0.10689	0.2216:0.6437:0.0:0.1347	.	181	Q8NG85	OR2L3_HUMAN	T	181	ENSP00000353044:P181T	ENSP00000353044:P181T	P	+	1	0	OR2L3	246291147	0.000000	0.05858	0.013000	0.15412	0.015000	0.08874	-1.396000	0.02513	0.175000	0.19841	0.462000	0.41574	CCA		PASS	0.463	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		102	114	102	114	---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30998886	30998886	+	Silent	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:30998886C>A	ENST00000295055.8	-	4	473	c.297G>T	c.(295-297)ctG>ctT	p.L99L	CAPN13_ENST00000534090.2_Silent_p.L99L|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	99	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.L99L(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)					TCAAGGATCCCAGTGCTGCCA	0.517																																						uc002rnn.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(295-297)CTG>CTT		calpain 13							108.0	109.0	109.0					2																	30998886		1986	4175	6161	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30998886C>A		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.297G>T	2.37:g.30998886C>A						CAPN13_uc002rnp.1_Silent_p.L99L	p.L99L	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			4	473	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		99			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.297G>T	CCDS46252.1																																																																																				PASS	0.517	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		38	11	38	11	---	---	---	---
CD207	50489	broad.mit.edu	37	2	71060081	71060081	+	Missense_Mutation	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:71060081A>G	ENST00000410009.3	-	4	712	c.667T>C	c.(667-669)Tgt>Cgt	p.C223R		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	223	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.C223R(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGGACACACAGAACTGCTCG	0.507																																						uc002shg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(667-669)TGT>CGT		CD207 antigen, langerin							78.0	79.0	79.0					2																	71060081		1990	4165	6155	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060081A>G	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.667T>C	2.37:g.71060081A>G	ENSP00000386378:p.Cys223Arg						p.C223R	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			4	714	-			223			C-type lectin.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000410009.3	37	c.667T>C		.	.	.	.	.	.	.	.	.	.	A	14.46	2.542052	0.45280	.	.	ENSG00000116031	ENST00000410009	D	0.93547	-3.24	5.35	5.35	0.76521	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	D	0.000033	D	0.98191	0.9402	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98725	1.0710	10	0.87932	D	0	.	12.0333	0.53410	1.0:0.0:0.0:0.0	.	223	Q9UJ71	CLC4K_HUMAN	R	223	ENSP00000386378:C223R	ENSP00000386378:C223R	C	-	1	0	CD207	70913589	1.000000	0.71417	0.988000	0.46212	0.185000	0.23345	4.655000	0.61476	2.152000	0.67230	0.533000	0.62120	TGT		PASS	0.507	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		52	48	52	48	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74597355	74597355	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:74597355C>A	ENST00000361874.3	-	12	1562	c.1245G>T	c.(1243-1245)gaG>gaT	p.E415D	DCTN1_ENST00000409567.3_Missense_Mutation_p.E395D|DCTN1_ENST00000407639.2_Missense_Mutation_p.E281D|DCTN1_ENST00000409240.1_Missense_Mutation_p.E378D|DCTN1_ENST00000394003.3_Missense_Mutation_p.E408D|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409438.1_Missense_Mutation_p.E281D|DCTN1_ENST00000409868.1_Missense_Mutation_p.E398D	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	415					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.E415D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTGGCTTAGCTCCTCCTGCA	0.562																																						uc002skx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1243-1245)GAG>GAT		dynactin 1 isoform 1							89.0	84.0	86.0					2																	74597355		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74597355C>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1245G>T	2.37:g.74597355C>A	ENSP00000354791:p.Glu415Asp					DCTN1_uc002skv.2_Missense_Mutation_p.E281D|DCTN1_uc002sku.2_Missense_Mutation_p.E281D|DCTN1_uc002skw.1_Missense_Mutation_p.E391D|DCTN1_uc010ffd.2_Missense_Mutation_p.E395D|DCTN1_uc002sky.2_Missense_Mutation_p.E378D	p.E415D	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			12	1556	-			415			Potential.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.1245G>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164717	0.57476	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78816	-0.77;-0.97;-0.77;-0.77;-1.21;-1.05;-0.99	4.98	2.13	0.27403	.	0.000000	0.43747	D	0.000535	T	0.81197	0.4772	L	0.51914	1.62	0.53688	D	0.999979	P;P;D;B;B;D	0.61697	0.852;0.95;0.984;0.125;0.216;0.99	B;P;D;B;B;D	0.70935	0.314;0.621;0.935;0.082;0.343;0.971	T	0.76473	-0.2946	10	0.27082	T	0.32	-11.3455	10.1941	0.43043	0.0:0.7672:0.0:0.2328	.	395;378;415;408;281;281	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	D	415;408;398;281;281;378;398;395	ENSP00000354791:E415D;ENSP00000377571:E408D;ENSP00000384844:E281D;ENSP00000387270:E281D;ENSP00000386406:E378D;ENSP00000387327:E398D;ENSP00000386843:E395D	ENSP00000354791:E415D	E	-	3	2	DCTN1	74450863	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.218000	0.51192	0.670000	0.31165	0.655000	0.94253	GAG		PASS	0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		52	83	52	83	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385837	79385837	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:79385837C>A	ENST00000409839.3	-	3	171	c.135G>T	c.(133-135)aaG>aaT	p.K45N	REG3A_ENST00000393878.1_Missense_Mutation_p.K45N|REG3A_ENST00000305165.2_Missense_Mutation_p.K45N|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	45					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.K45N(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AGCCATAGGCCTTGGAGCCTT	0.547																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(133-135)AAG>AAT		pancreatitis-associated protein precursor							107.0	95.0	99.0					2																	79385837		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385837C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.135G>T	2.37:g.79385837C>A	ENSP00000386630:p.Lys45Asn					REG3A_uc002soe.1_Missense_Mutation_p.K45N|REG3A_uc002sof.1_Missense_Mutation_p.K45N	p.K45N	NM_138938	NP_620355	Q06141	REG3A_HUMAN			2	390	-			45			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.135G>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	5.525	0.281806	0.10458	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.14391	2.51;2.51;2.51	3.83	-1.34	0.09143	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.822850	0.10545	N	0.662210	T	0.07188	0.0182	L	0.31664	0.95	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.43861	-0.9365	10	0.13108	T	0.6	.	3.168	0.06542	0.3175:0.4174:0.0:0.2651	.	45	Q06141	REG3A_HUMAN	N	45	ENSP00000386630:K45N;ENSP00000377456:K45N;ENSP00000304311:K45N	ENSP00000304311:K45N	K	-	3	2	REG3A	79239345	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.535000	0.06142	-0.279000	0.09167	0.597000	0.82753	AAG		PASS	0.547	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		21	47	21	47	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102460599	102460599	+	Silent	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:102460599C>T	ENST00000347699.4	+	12	1059	c.1059C>T	c.(1057-1059)cgC>cgT	p.R353R	MAP4K4_ENST00000324219.4_Silent_p.R353R|MAP4K4_ENST00000350878.4_Silent_p.R333R|MAP4K4_ENST00000456652.1_Silent_p.R206R|MAP4K4_ENST00000350198.4_Silent_p.R353R|MAP4K4_ENST00000302217.5_Silent_p.R206R|MAP4K4_ENST00000425019.1_Silent_p.R353R|MAP4K4_ENST00000413150.2_Silent_p.R353R	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	353					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R353R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTACTCTTCGCCGAGATTTCC	0.512																																						uc002tbg.2																			1	Substitution - coding silent(1)		lung(1)	stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1057-1059)CGC>CGT		mitogen-activated protein kinase kinase kinase							68.0	61.0	63.0					2																	102460599		1933	4132	6065	SO:0001819	synonymous_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102460599C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1059C>T	2.37:g.102460599C>T						MAP4K4_uc002tbc.2_Silent_p.R353R|MAP4K4_uc002tbd.2_Silent_p.R353R|MAP4K4_uc002tbe.2_Silent_p.R353R|MAP4K4_uc002tbf.2_Silent_p.R353R|MAP4K4_uc010yvy.1_Silent_p.R353R|MAP4K4_uc002tbh.2_Silent_p.R353R|MAP4K4_uc002tbi.2_Silent_p.R206R|MAP4K4_uc010yvz.1_Silent_p.R333R|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Silent_p.R249R	p.R353R	NM_145687	NP_663720	O95819	M4K4_HUMAN			12	1114	+			353					O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.1059C>T	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	T	9.616	1.132602	0.21041	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.33323	0.0859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47509	-0.9112	4	.	.	.	.	3.1442	0.06466	0.3354:0.3201:0.2541:0.0904	.	.	.	.	S	93	.	.	P	+	1	0	MAP4K4	101827031	0.000000	0.05858	0.098000	0.21074	0.993000	0.82548	-4.146000	0.00286	-3.415000	0.00168	-0.254000	0.11334	CCG		PASS	0.512	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		17	23	17	23	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109398838	109398838	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:109398838G>T	ENST00000283195.6	+	27	9141	c.9015G>T	c.(9013-9015)tgG>tgT	p.W3005C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3005	RanBD1 4. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.W3005C(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTAGTTTGGACTGCCTCAG	0.303																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(9013-9015)TGG>TGT		RAN binding protein 2							95.0	103.0	100.0					2																	109398838		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109398838G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.9015G>T	2.37:g.109398838G>T	ENSP00000283195:p.Trp3005Cys						p.W3005C	NM_006267	NP_006258	P49792	RBP2_HUMAN			27	9141	+			3005			RanBD1 4.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.9015G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892182	0.72524	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.49720	0.77	5.44	5.44	0.79542	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.78960	0.4366	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84637	0.0693	9	0.87932	D	0	-6.649	19.6178	0.95640	0.0:0.0:1.0:0.0	.	3005	P49792	RBP2_HUMAN	C	2029;3005	ENSP00000283195:W3005C	ENSP00000283195:W3005C	W	+	3	0	RANBP2	108765270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.803000	0.99136	2.709000	0.92574	0.655000	0.94253	TGG		PASS	0.303	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		65	112	65	112	---	---	---	---
SCTR	6344	broad.mit.edu	37	2	120221813	120221813	+	Silent	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:120221813G>A	ENST00000019103.5	-	6	789	c.522C>T	c.(520-522)cgC>cgT	p.R174R		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	174					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.R174R(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGATGTAGTTGCGAGTGCAGT	0.577																																						uc002tma.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(520-522)CGC>CGT		secretin receptor precursor	Secretin(DB00021)						174.0	143.0	153.0					2																	120221813		2203	4300	6503	SO:0001819	synonymous_variant	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120221813G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.522C>T	2.37:g.120221813G>A						SCTR_uc002tlz.2_5'UTR	p.R174R	NM_002980	NP_002971	P47872	SCTR_HUMAN			6	748	-			174			Cytoplasmic (Potential).		Q12961|Q13213|Q53T00	Silent	SNP	ENST00000019103.5	37	c.522C>T	CCDS2127.1																																																																																				PASS	0.577	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			42	45	42	45	---	---	---	---
PTPN4	5775	broad.mit.edu	37	2	120723183	120723183	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:120723183G>T	ENST00000263708.2	+	25	3291	c.2520G>T	c.(2518-2520)aaG>aaT	p.K840N	PTPN4_ENST00000544261.1_Missense_Mutation_p.K473N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	840	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.K840N(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TACGAAACAAGAGGGCTGGCA	0.443																																						uc002tmf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2518-2520)AAG>AAT		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						159.0	143.0	148.0					2																	120723183		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120723183G>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2520G>T	2.37:g.120723183G>T	ENSP00000263708:p.Lys840Asn					PTPN4_uc010flj.1_Missense_Mutation_p.K553N|PTPN4_uc010yyr.1_Missense_Mutation_p.K473N	p.K840N	NM_002830	NP_002821	P29074	PTN4_HUMAN			25	3291	+			840			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2520G>T	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.420|8.420	0.846253|0.846253	0.16963|0.16963	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	.|T;T	.|0.14022	.|2.54;2.54	5.62|5.62	-1.99|-1.99	0.07457|0.07457	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	.|0.085063	.|0.85682	.|D	.|0.000000	.|T	.|0.06508	.|0.0167	L|L	0.31804|0.31804	0.96|0.96	0.31837|0.31837	N|N	0.623958|0.623958	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	.|T	.|0.27157	.|-1.0082	.|10	.|0.20046	.|T	.|0.44	.|.	2.997|2.997	0.06001|0.06001	0.3639:0.1006:0.4324:0.1032|0.3639:0.1006:0.4324:0.1032	.|.	.|840	.|P29074	.|PTN4_HUMAN	X|N	124|840;473	.|ENSP00000263708:K840N;ENSP00000445841:K473N	.|ENSP00000263708:K840N	E|K	+|+	1|3	0|2	PTPN4|PTPN4	120439653|120439653	0.927000|0.927000	0.31430|0.31430	0.954000|0.954000	0.39281|0.39281	0.689000|0.689000	0.40095|0.40095	0.048000|0.048000	0.14078|0.14078	-0.433000|-0.433000	0.07286|0.07286	-0.140000|-0.140000	0.14226|0.14226	GAG|AAG		PASS	0.443	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			54	111	54	111	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162762167	162762167	+	Silent	SNP	A	A	C	rs189993378	byFrequency	TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:162762167A>C	ENST00000446997.1	+	15	1860	c.1767A>C	c.(1765-1767)tcA>tcC	p.S589S	SLC4A10_ENST00000375514.5_Silent_p.S570S|SLC4A10_ENST00000272716.5_Silent_p.S559S|SLC4A10_ENST00000421911.1_Silent_p.S589S|SLC4A10_ENST00000415876.2_Silent_p.S559S	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	589					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.S559S(1)|p.S589S(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)	ATGGGCTGTCATACCTATCTT	0.403																																						uc002ubx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1765-1767)TCA>TCC		solute carrier family 4, sodium bicarbonate							169.0	167.0	167.0					2																	162762167		1970	4166	6136	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162762167A>C		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.1767A>C	2.37:g.162762167A>C						SLC4A10_uc002uby.3_Silent_p.S559S|SLC4A10_uc010zcs.1_Silent_p.S570S	p.S589S	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			15	1951	+			589			Extracellular (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.1767A>C	CCDS54411.1																																																																																				PASS	0.403	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		92	116	92	116	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166870302	166870303	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:166870302_166870303CC>AA	ENST00000303395.4	-	18	3655_3656	c.3656_3657GG>TT	c.(3655-3657)tGG>tTT	p.W1219F	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.W1191F|SCN1A_ENST00000375405.3_Missense_Mutation_p.W1208F|SCN1A_ENST00000423058.2_Missense_Mutation_p.W1219F			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1219					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.W1219F(1)|p.W1208C(1)|p.W1219C(1)|p.W1208F(1)|p.W1219L(1)|p.W1208L(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGTCTCAAACCAGTTATGTTC	0.386																																						uc010zcz.1																			6	Substitution - Missense(6)		lung(6)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3622-3624)TGG>TGT|c.(3622-3624)TGG>TTG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)																																			SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166870302C>A|g.chr2:166870303C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3656_3657delinsAA	2.37:g.166870302_166870303delinsAA	ENSP00000303540:p.Trp1219Phe					SCN1A_uc002udo.3_Missense_Mutation_p.W1088C|SCN1A_uc010fpk.2_Missense_Mutation_p.W1060C|SCN1A_uc002udo.3_Missense_Mutation_p.W1088L|SCN1A_uc010fpk.2_Missense_Mutation_p.W1060L	p.W1208C|p.W1208L	NM_006920	NP_008851	P35498	SCN1A_HUMAN			18	3642|3641	-			1219			III.|Helical; Name=S1 of repeat III; (By similarity).		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3624G>T|c.3623G>T	CCDS54413.1																																																																																				PASS	0.386	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		50	60|61	50	60	---	---	---	---
KIAA1715	80856	broad.mit.edu	37	2	176829140	176829140	+	Silent	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:176829140C>T	ENST00000272748.4	-	8	700	c.453G>A	c.(451-453)ccG>ccA	p.P151P	KIAA1715_ENST00000535310.1_Silent_p.P76P|KIAA1715_ENST00000544803.1_Silent_p.P151P	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	151					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.P151P(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CAGCAGATGGCGGCTCACACT	0.378																																						uc002ukc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(451-453)CCG>CCA		Lunapark							104.0	98.0	100.0					2																	176829140		2203	4300	6503	SO:0001819	synonymous_variant	80856					integral to membrane	protein binding	g.chr2:176829140C>T	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.453G>A	2.37:g.176829140C>T						KIAA1715_uc010zer.1_Silent_p.P151P|KIAA1715_uc010fqw.1_Silent_p.P217P|KIAA1715_uc010zes.1_Silent_p.P153P|KIAA1715_uc002ukd.1_Silent_p.P28P|KIAA1715_uc010zet.1_RNA	p.P151P	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		8	646	-			151			Cytoplasmic (Potential).		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Silent	SNP	ENST00000272748.4	37	c.453G>A	CCDS33332.1																																																																																				PASS	0.378	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		46	86	46	86	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179456980	179456980	+	Missense_Mutation	SNP	A	A	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:179456980A>T	ENST00000591111.1	-	252	54952	c.54728T>A	c.(54727-54729)cTg>cAg	p.L18243Q	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L19884Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L17316Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L10944Q|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L10819Q|TTN_ENST00000342175.6_Missense_Mutation_p.L11011Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18243	Fibronectin type-III 32. {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.L17316Q(1)|p.L10944Q(1)|p.L10819Q(1)|p.L17314Q(1)|p.L11011Q(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)			ACTGACTTCCAGATCTCTAGG	0.323																																						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.(51946-51948)CTG>CAG		titin isoform N2-A							48.0	45.0	46.0					2																	179456980		1855	4093	5948	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456980A>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.54728T>A	2.37:g.179456980A>T	ENSP00000465570:p.Leu18243Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L11011Q|TTN_uc010zfi.1_Missense_Mutation_p.L10944Q|TTN_uc010zfj.1_Missense_Mutation_p.L10819Q	p.L17316Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		251	52171	-			18243					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.51947T>A		.	.	.	.	.	.	.	.	.	.	A	12.28	1.890557	0.33348	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85617	0.5738	H	0.95645	3.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89816	0.3985	9	0.87932	D	0	.	16.5724	0.84622	1.0:0.0:0.0:0.0	.	10819;10944;11011;18243	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	17316;10819;11011;10944;10817	ENSP00000343764:L17316Q;ENSP00000434586:L10819Q;ENSP00000340554:L11011Q;ENSP00000352154:L10944Q	ENSP00000340554:L11011Q	L	-	2	0	TTN	179165226	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.281000	0.95811	2.313000	0.78055	0.455000	0.32223	CTG		PASS	0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	24	16	24	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179612491	179612491	+	Intron	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:179612491A>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I4879T|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|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)			ACTAGTTTCTATCATTTCTCC	0.358																																						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.(14635-14637)ATA>ACA		titin isoform novex-3							50.0	50.0	50.0					2																	179612491		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612491A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5359T>C	2.37:g.179612491A>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.I4879T	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14860	-			1002					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.14636T>C		.	.	.	.	.	.	.	.	.	.	A	10.77	1.444043	0.25987	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58358	0.34	5.75	-4.49	0.03504	.	.	.	.	.	T	0.22859	0.0552	N	0.08118	0	0.20403	N	0.999905	B	0.02656	0.0	B	0.04013	0.001	T	0.16660	-1.0395	9	0.21014	T	0.42	.	3.2767	0.06901	0.3178:0.1857:0.3923:0.1041	.	4879	Q8WZ42-6	.	T	4879;193	ENSP00000354117:I4879T	ENSP00000304714:I193T	I	-	2	0	TTN	179320736	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	0.056000	0.14256	-0.344000	0.08338	-0.256000	0.11100	ATA		PASS	0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	44	48	44	---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182780263	182780263	+	Silent	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:182780263G>A	ENST00000431877.2	+	11	2075	c.1896G>A	c.(1894-1896)gaG>gaA	p.E632E	SSFA2_ENST00000320370.7_Silent_p.E632E|SSFA2_ENST00000428267.2_Silent_p.E479E|SSFA2_ENST00000409001.1_Silent_p.E632E|SSFA2_ENST00000409136.1_Silent_p.E141E	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	632						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E632E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTCCAGCAGAGACAGTAGAGC	0.413																																						uc002uoi.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1894-1896)GAG>GAA		sperm specific antigen 2 isoform 1							89.0	81.0	84.0					2																	182780263		2203	4300	6503	SO:0001819	synonymous_variant	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780263G>A	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1896G>A	2.37:g.182780263G>A						SSFA2_uc002uoh.2_Silent_p.E632E|SSFA2_uc002uoj.2_Silent_p.E632E|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Silent_p.E479E|SSFA2_uc002uol.2_Silent_p.E479E|SSFA2_uc002uom.2_Silent_p.E100E	p.E632E	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2218	+			632					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	ENST00000431877.2	37	c.1896G>A	CCDS46467.1																																																																																				PASS	0.413	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		40	69	40	69	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189859285	189859285	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:189859285G>T	ENST00000304636.3	+	19	1482	c.1312G>T	c.(1312-1314)Ggt>Tgt	p.G438C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G438C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	438	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G438C(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TGGTAAGAATGGTGCCAAAGG	0.393																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1312-1314)GGT>TGT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						97.0	97.0	97.0					2																	189859285		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189859285G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1312G>T	2.37:g.189859285G>T	ENSP00000304408:p.Gly438Cys						p.G438C	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		19	1429	+			438			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1312G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313318	0.81358	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99186	-5.53;-5.53	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000069	D	0.99684	0.9881	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97490	1.0053	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	438	P02461	CO3A1_HUMAN	C	438	ENSP00000304408:G438C;ENSP00000315243:G438C	ENSP00000304408:G438C	G	+	1	0	COL3A1	189567530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.550000	0.98110	2.941000	0.99782	0.655000	0.94253	GGT		PASS	0.393	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		30	57	30	57	---	---	---	---
GLS	2744	broad.mit.edu	37	2	191792047	191792047	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:191792047G>A	ENST00000320717.3	+	12	1522	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M	GLS_ENST00000409428.1_5'Flank|GLS_ENST00000409215.1_5'Flank|GLS_ENST00000409626.1_5'UTR|GLS_ENST00000338435.4_Missense_Mutation_p.V422M	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	422					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.V422M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	CTCCATTGAAGTGACTTGTGA	0.383																																						uc002usf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1264-1266)GTG>ATG		glutaminase precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						114.0	107.0	110.0					2																	191792047		2203	4300	6503	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191792047G>A	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1264G>A	2.37:g.191792047G>A	ENSP00000317379:p.Val422Met					GLS_uc002use.2_Missense_Mutation_p.V422M|GLS_uc002usg.1_Missense_Mutation_p.V83M|GLS_uc002ush.2_Missense_Mutation_p.V83M|GLS_uc010zgi.1_Translation_Start_Site|GLS_uc010zgj.1_5'Flank	p.V422M	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		12	1528	+			422					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.1264G>A	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182609	0.94885	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.44482	0.92;0.92	5.62	5.62	0.85841	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	L	0.41356	1.27	0.80722	D	1	P;P;P;P	0.52316	0.92;0.923;0.92;0.952	P;P;P;P	0.55615	0.78;0.521;0.78;0.74	T	0.26849	-1.0091	10	0.28530	T	0.3	-18.0624	20.0303	0.97534	0.0:0.0:1.0:0.0	.	422;76;422;422	A8K132;Q68D38;O94925;O94925-3	.;.;GLSK_HUMAN;.	M	422	ENSP00000317379:V422M;ENSP00000340689:V422M	ENSP00000317379:V422M	V	+	1	0	GLS	191500292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.768000	0.98965	2.794000	0.96219	0.650000	0.86243	GTG		PASS	0.383	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			27	39	27	39	---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202547600	202547600	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:202547600C>A	ENST00000409474.3	-	8	821	c.614G>T	c.(613-615)gGa>gTa	p.G205V	MPP4_ENST00000447335.2_Missense_Mutation_p.G205V|MPP4_ENST00000409143.1_Missense_Mutation_p.G178V|MPP4_ENST00000359962.5_Missense_Mutation_p.G205V|MPP4_ENST00000428900.2_Missense_Mutation_p.G205V|MPP4_ENST00000315506.7_Missense_Mutation_p.G205V|MPP4_ENST00000396886.3_Missense_Mutation_p.G161V	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	205	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.G205V(2)		kidney(1)|lung(11)	12						AACTGAAACTCCATTCACTTC	0.383																																						uc002uyk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(613-615)GGA>GTA		membrane protein, palmitoylated 4							136.0	129.0	131.0					2																	202547600		1873	4117	5990	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202547600C>A	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.614G>T	2.37:g.202547600C>A	ENSP00000387278:p.Gly205Val					MPP4_uc010ftj.2_Missense_Mutation_p.G205V|MPP4_uc010zhq.1_Missense_Mutation_p.G205V|MPP4_uc010zhr.1_Missense_Mutation_p.G205V|MPP4_uc010zhs.1_Missense_Mutation_p.G161V|MPP4_uc002uyj.3_Missense_Mutation_p.G161V|MPP4_uc010zht.1_Missense_Mutation_p.G178V|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.G205V|MPP4_uc002uym.1_Missense_Mutation_p.G174V|MPP4_uc002uyn.2_Missense_Mutation_p.G161V	p.G205V	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			8	822	-			205			PDZ.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.614G>T	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671713	0.88348	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.5	5.5	0.81552	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.80454	0.4626	H	0.98901	4.365	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.88570	0.3129	10	0.87932	D	0	.	19.404	0.94641	0.0:1.0:0.0:0.0	.	178;161;205;205;205;205;161;218;205;161	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;.;MPP4_HUMAN;.	V	205;205;161;205;161;134;205;178;205	ENSP00000387278:G205V;ENSP00000319363:G205V;ENSP00000353047:G205V;ENSP00000416781:G205V;ENSP00000387293:G178V;ENSP00000406160:G205V	ENSP00000319363:G205V	G	-	2	0	MPP4	202255845	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.396000	0.79891	2.580000	0.87095	0.655000	0.94253	GGA		PASS	0.383	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			70	91	70	91	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206165256	206165256	+	Missense_Mutation	SNP	T	T	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:206165256T>A	ENST00000406610.2	+	17	2395	c.2188T>A	c.(2188-2190)Tct>Act	p.S730T	PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.S730T|PARD3B_ENST00000358768.2_Missense_Mutation_p.S668T|PARD3B_ENST00000462231.1_Missense_Mutation_p.S730T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	730					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.S668T(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTTTCCAGAATCTCCAAGCAA	0.458																																						uc002var.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(2188-2190)TCT>ACT		par-3 partitioning defective 3 homolog B isoform							98.0	97.0	97.0					2																	206165256		1863	4109	5972	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206165256T>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2188T>A	2.37:g.206165256T>A	ENSP00000385848:p.Ser730Thr					PARD3B_uc010fub.1_Missense_Mutation_p.S730T|PARD3B_uc002vao.1_Missense_Mutation_p.S730T|PARD3B_uc002vap.1_Missense_Mutation_p.S668T|PARD3B_uc002vaq.1_Intron	p.S730T	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	17	2395	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	730					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2188T>A		.	.	.	.	.	.	.	.	.	.	T	12.32	1.901377	0.33535	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.29142	1.58;1.58;1.58	5.63	2.85	0.33270	.	0.307999	0.31199	N	0.008072	T	0.29355	0.0731	L	0.61218	1.895	0.27250	N	0.958918	B;P;P	0.38195	0.435;0.622;0.481	B;B;B	0.38500	0.107;0.275;0.158	T	0.19451	-1.0305	10	0.59425	D	0.04	.	7.2398	0.26090	0.0:0.1131:0.2505:0.6363	.	730;668;730	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	T	730;668;730	ENSP00000385848:S730T;ENSP00000351618:S668T;ENSP00000340280:S730T	ENSP00000340280:S730T	S	+	1	0	PARD3B	205873501	0.042000	0.20092	1.000000	0.80357	0.992000	0.81027	0.329000	0.19698	0.929000	0.37192	0.533000	0.62120	TCT		PASS	0.458	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		83	146	83	146	---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219507362	219507362	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:219507362C>T	ENST00000449707.1	-	8	4298	c.3877G>A	c.(3877-3879)Gcc>Acc	p.A1293T	ZNF142_ENST00000411696.2_Missense_Mutation_p.A1293T	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1293					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.A1130T(1)|p.A1293T(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGAACTGGGCTTCACACTGG	0.592																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|skin(1)	4						c.(3877-3879)GCC>ACC		zinc finger protein 142							47.0	53.0	51.0					2																	219507362		2164	4263	6427	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507362C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3877G>A	2.37:g.219507362C>T	ENSP00000408643:p.Ala1293Thr					ZNF142_uc002vil.2_Missense_Mutation_p.A1254T|ZNF142_uc010fvt.2_Missense_Mutation_p.A1130T|ZNF142_uc002vim.2_Missense_Mutation_p.A1130T	p.A1293T	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	4313	-		Renal(207;0.0474)	1293			C2H2-type 20.		Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3877G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831557	0.71258	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.28255	1.62;1.62	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.094436	0.64402	D	0.000001	T	0.53045	0.1772	L	0.56280	1.765	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.39781	-0.9597	10	0.41790	T	0.15	-29.088	19.5498	0.95312	0.0:1.0:0.0:0.0	.	1293;1130	P52746;A8MWU9	ZN142_HUMAN;.	T	1293	ENSP00000408643:A1293T;ENSP00000398798:A1293T	ENSP00000398798:A1293T	A	-	1	0	ZNF142	219215606	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.719000	0.68462	2.860000	0.98153	0.609000	0.83330	GCC		PASS	0.592	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		49	72	49	72	---	---	---	---
ANKMY1	51281	broad.mit.edu	37	2	241468618	241468618	+	Silent	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr2:241468618C>A	ENST00000272972.3	-	4	736	c.522G>T	c.(520-522)tcG>tcT	p.S174S	ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.S263S|ANKMY1_ENST00000391987.1_Silent_p.S174S	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	174							metal ion binding (GO:0046872)	p.S174S(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CACTGTTGGTCGAGTAGACAT	0.502																																						uc002vyz.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(520-522)TCG>TCT		ankyrin repeat and MYND domain containing 1							144.0	140.0	141.0					2																	241468618		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241468618C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.522G>T	2.37:g.241468618C>A						ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Silent_p.S263S|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	p.S174S	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	4	751	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	174					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.522G>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.306881	0.01353	.	.	ENSG00000144504	ENST00000443318	.	.	.	5.06	-10.1	0.00402	.	.	.	.	.	T	0.47764	0.1463	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	T	0.66972	-0.5788	4	.	.	.	-8.3213	9.552	0.39315	0.0613:0.0826:0.4822:0.3738	.	.	.	.	Y	119	.	.	D	-	1	0	ANKMY1	241117291	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-4.638000	0.00205	-4.474000	0.00047	-1.693000	0.00726	GAC		PASS	0.502	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		45	53	45	53	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19492675	19492675	+	Missense_Mutation	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:19492675G>C	ENST00000328405.2	+	10	1870	c.1604G>C	c.(1603-1605)cGt>cCt	p.R535P	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	535					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R535P(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GATGAACTGCGTTCTGACATC	0.438																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(1603-1605)CGT>CCT		potassium voltage-gated channel, subfamily H,							154.0	156.0	155.0					3																	19492675		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19492675G>C	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1604G>C	3.37:g.19492675G>C	ENSP00000328813:p.Arg535Pro					KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_3'UTR	p.R535P	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			10	1799	+			535			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1604G>C	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018084	0.93404	.	.	ENSG00000183960	ENST00000328405	D	0.97455	-4.39	5.52	5.52	0.82312	Cyclic nucleotide-binding-like (1);	0.000000	0.32386	U	0.006161	D	0.98592	0.9529	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98951	1.0794	9	.	.	.	.	19.4475	0.94854	0.0:0.0:1.0:0.0	.	535	Q96L42	KCNH8_HUMAN	P	535	ENSP00000328813:R535P	.	R	+	2	0	KCNH8	19467679	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	9.869000	0.99810	2.609000	0.88269	0.460000	0.39030	CGT		PASS	0.438	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		135	29	135	29	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38805051	38805051	+	Silent	SNP	T	T	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:38805051T>G	ENST00000449082.2	-	5	635	c.636A>C	c.(634-636)tcA>tcC	p.S212S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	212					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.S212S(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)	TCCGCAGGCCTGAGATCCCAC	0.463																																						uc003ciq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(634-636)TCA>TCC		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)						147.0	142.0	144.0					3																	38805051		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38805051T>G	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.636A>C	3.37:g.38805051T>G							p.S212S	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	5	636	-			212			I.		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.636A>C	CCDS33736.1																																																																																				PASS	0.463	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		70	12	70	12	---	---	---	---
DHFRL1	200895	broad.mit.edu	37	3	93779797	93779797	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:93779797C>T	ENST00000394221.2	-	2	1008	c.559G>A	c.(559-561)Gat>Aat	p.D187N	DHFRL1_ENST00000314636.2_Missense_Mutation_p.D187N|NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	187					glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)	p.D187N(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TCATATTAATCATCCTTCTCA	0.383																																						uc003dri.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GAT>AAT		dihydrofolate reductase-like 1							96.0	90.0	92.0					3																	93779797		2203	4300	6503	SO:0001583	missense	200895				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	g.chr3:93779797C>T	AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.559G>A	3.37:g.93779797C>T	ENSP00000377768:p.Asp187Asn					DHFRL1_uc003drj.2_Missense_Mutation_p.D187N|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank	p.D187N	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN			2	725	-			187					D3DN30|Q6P4I9	Missense_Mutation	SNP	ENST00000394221.2	37	c.559G>A	CCDS2926.1	.	.	.	.	.	.	.	.	.	.	C	8.015	0.758430	0.15846	.	.	ENSG00000178700	ENST00000314636;ENST00000394221	T;T	0.72615	-0.67;-0.67	1.25	1.25	0.21368	Dihydrofolate reductase-like domain (1);	0.720818	0.12055	N	0.503684	T	0.53883	0.1824	L	0.29908	0.895	0.25951	N	0.982745	B	0.06786	0.001	B	0.06405	0.002	T	0.38415	-0.9662	10	0.22706	T	0.39	.	8.4404	0.32812	0.0:1.0:0.0:0.0	.	187	Q86XF0	DYRL1_HUMAN	N	187	ENSP00000319170:D187N;ENSP00000377768:D187N	ENSP00000319170:D187N	D	-	1	0	DHFRL1	95262487	0.157000	0.22836	0.882000	0.34594	0.127000	0.20565	1.585000	0.36600	1.020000	0.39573	0.449000	0.29647	GAT		PASS	0.383	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352910.1	NM_176815		52	12	52	12	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113955305	113955305	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:113955305C>T	ENST00000482457.2	-	1	1120	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R206Q(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CATACTATGTCGGAAGAAAAC	0.493																																					GBM(23;986 1114 21716)	uc010hqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)CGA>CAA		zinc finger protein 80							109.0	114.0	112.0					3																	113955305		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955305C>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.617G>A	3.37:g.113955305C>T	ENSP00000417192:p.Arg206Gln					ZNF80_uc003ebf.2_RNA	p.R206Q	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	1121	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	206			C2H2-type 6.		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.617G>A	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	1.197	-0.633637	0.03584	.	.	ENSG00000174255	ENST00000482457	T	0.07216	3.21	3.24	-0.308	0.12773	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.26092	0.79	0.09310	N	1	B	0.31625	0.332	B	0.25140	0.058	T	0.40175	-0.9577	9	0.02654	T	1	.	6.2499	0.20839	0.0:0.2747:0.5679:0.1574	.	206	P51504	ZNF80_HUMAN	Q	206	ENSP00000417192:R206Q	ENSP00000309812:R206Q	R	-	2	0	ZNF80	115437995	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-6.334000	0.00070	-0.069000	0.12931	0.561000	0.74099	CGA		PASS	0.493	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		59	14	59	14	---	---	---	---
EFCC1	79825	broad.mit.edu	37	3	128757707	128757707	+	Silent	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:128757707C>T	ENST00000480450.1	+	7	1624	c.1624C>T	c.(1624-1626)Ctg>Ttg	p.L542L	EFCC1_ENST00000436022.2_Silent_p.L105L			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	542							calcium ion binding (GO:0005509)	p.L542L(1)|p.L105L(1)									GAAGATTTTGCTGAGCACGCT	0.547																																						uc011bkt.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1624-1626)CTG>TTG		coiled-coil domain containing 48							89.0	96.0	94.0					3																	128757707		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128757707C>T	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1624C>T	3.37:g.128757707C>T							p.L542L	NM_024768	NP_079044	Q9HA90	CCD48_HUMAN			7	1624	+			542					A8MYE2	Silent	SNP	ENST00000480450.1	37	c.1624C>T	CCDS3054.2																																																																																				PASS	0.547	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		94	13	94	13	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143551032	143551032	+	Silent	SNP	A	A	G	rs112237207		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:143551032A>G	ENST00000316549.6	-	2	415	c.207T>C	c.(205-207)gcT>gcC	p.A69A		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	69					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.A69A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTGGTGCTGTAGCATATCGTA	0.348																																						uc003evn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(205-207)GCT>GCC		solute carrier family 9 (sodium/hydrogen							123.0	118.0	120.0					3																	143551032		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143551032A>G	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.207T>C	3.37:g.143551032A>G						SLC9A9_uc011bnk.1_Intron	p.A69A	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			2	389	-			69					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.207T>C	CCDS33872.1																																																																																				PASS	0.348	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		20	41	20	41	---	---	---	---
MME	4311	broad.mit.edu	37	3	154802012	154802012	+	Missense_Mutation	SNP	A	A	T	rs148334392	byFrequency	TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:154802012A>T	ENST00000460393.1	+	2	176	c.56A>T	c.(55-57)aAg>aTg	p.K19M	MME_ENST00000493237.1_Missense_Mutation_p.K19M|MME_ENST00000382989.3_Missense_Mutation_p.K19M|MME_ENST00000360490.2_Missense_Mutation_p.K19M|MME_ENST00000462745.1_Missense_Mutation_p.K19M|MME_ENST00000492661.1_Missense_Mutation_p.K19M	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	19					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.K19M(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CCAAAGCCAAAGAAGAAACAG	0.418																																						uc010hvr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(55-57)AAG>ATG		membrane metallo-endopeptidase	Candoxatril(DB00616)						184.0	179.0	181.0					3																	154802012		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154802012A>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.56A>T	3.37:g.154802012A>T	ENSP00000418525:p.Lys19Met					MME_uc003fab.1_Missense_Mutation_p.K19M|MME_uc003fac.1_Missense_Mutation_p.K19M|MME_uc003fad.1_Missense_Mutation_p.K19M|MME_uc003fae.1_Missense_Mutation_p.K19M	p.K19M	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		2	267	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	19			Cytoplasmic (Potential).|Stop-transfer sequence (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.56A>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.223582	0.79576	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000382989;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000462837	D;D;D;D;D;D;D;D;D	0.93366	-1.77;-1.77;-2.15;-1.77;-1.77;-1.77;-3.21;-3.19;-2.79	5.27	5.27	0.74061	.	0.187759	0.48286	D	0.000197	D	0.94804	0.8322	L	0.44542	1.39	0.45567	D	0.998512	D	0.76494	0.999	D	0.80764	0.994	D	0.95226	0.8338	10	0.72032	D	0.01	-28.1922	13.7325	0.62797	1.0:0.0:0.0:0.0	.	19	P08473	NEP_HUMAN	M	19	ENSP00000420389:K19M;ENSP00000418525:K19M;ENSP00000420101:K19M;ENSP00000419653:K19M;ENSP00000417079:K19M;ENSP00000353679:K19M;ENSP00000418791:K19M;ENSP00000420542:K19M;ENSP00000417595:K19M	ENSP00000353679:K19M	K	+	2	0	MME	156284706	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.828000	0.48120	2.126000	0.65437	0.482000	0.46254	AAG		PASS	0.418	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		140	27	140	27	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185155322	185155322	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:185155322G>A	ENST00000265026.3	+	3	897	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R44Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R188Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R44Q	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R188Q(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGCAAGTTCCGGGCGGAAGAG	0.507																																						uc010hyf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(562-564)CGG>CAG		mitogen-activated protein kinase kinase kinase							105.0	97.0	100.0					3																	185155322		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185155322G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.563G>A	3.37:g.185155322G>A	ENSP00000265026:p.Arg188Gln					MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Missense_Mutation_p.R44Q|MAP3K13_uc003fpi.2_Missense_Mutation_p.R188Q|MAP3K13_uc010hyg.2_Intron	p.R188Q	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	829	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		188			Protein kinase.			Missense_Mutation	SNP	ENST00000265026.3	37	c.563G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574938	0.86542	.	.	ENSG00000073803	ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.53249	1.67	0.80722	D	1	B;B	0.29766	0.216;0.256	B;B	0.23574	0.028;0.047	T	0.75616	-0.3256	10	0.24483	T	0.36	.	19.949	0.97192	0.0:0.0:1.0:0.0	.	44;188	O43283-4;O43283	.;M3K13_HUMAN	Q	188;44;44;188	ENSP00000399910:R188Q;ENSP00000409325:R44Q;ENSP00000439257:R44Q;ENSP00000265026:R188Q	ENSP00000265026:R188Q	R	+	2	0	MAP3K13	186638016	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.555000	0.67301	2.706000	0.92434	0.655000	0.94253	CGG		PASS	0.507	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		40	527	40	527	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185184616	185184616	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:185184616G>A	ENST00000265026.3	+	10	1842	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R296H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R359H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R503H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R359H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R503H(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCTGCAGGCGTGAGCAAGCA	0.458																																						uc010hyf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1507-1509)CGT>CAT		mitogen-activated protein kinase kinase kinase							129.0	108.0	115.0					3																	185184616		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185184616G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1508G>A	3.37:g.185184616G>A	ENSP00000265026:p.Arg503His					MAP3K13_uc011brt.1_Missense_Mutation_p.R296H|MAP3K13_uc011bru.1_Missense_Mutation_p.R359H|MAP3K13_uc003fpi.2_Missense_Mutation_p.R503H|MAP3K13_uc010hyg.2_Missense_Mutation_p.R193H	p.R503H	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		11	1774	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		503			Leucine-zipper 2.			Missense_Mutation	SNP	ENST00000265026.3	37	c.1508G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312914	0.95655	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.56	5.56	0.83823	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.99	T	0.30119	-0.9989	10	0.66056	D	0.02	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	359;296;503	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	296;503;359;359;503	ENSP00000411483:R296H;ENSP00000399910:R503H;ENSP00000409325:R359H;ENSP00000439257:R359H;ENSP00000265026:R503H	ENSP00000265026:R503H	R	+	2	0	MAP3K13	186667310	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.695000	0.98691	2.776000	0.95493	0.655000	0.94253	CGT		PASS	0.458	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		30	395	30	395	---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	435561	435561	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:435561C>T	ENST00000338977.5	-	2	2707	c.2659G>A	c.(2659-2661)Ggc>Agc	p.G887S	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.G899S|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	887					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.G899S(1)|p.G669S(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAGGTTTTGCCACAGTCTCCA	0.383																																						uc003gag.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2695-2697)GGC>AGC		zinc finger protein 721							68.0	71.0	70.0					4																	435561		2021	4212	6233	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:435561C>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2659G>A	4.37:g.435561C>T	ENSP00000340524:p.Gly887Ser					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G931S|ZNF721_uc010ibe.2_Missense_Mutation_p.G887S	p.G899S	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	3386	-			899					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2695G>A		.	.	.	.	.	.	.	.	.	.	C	11.72	1.723865	0.30593	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.35236	1.32;1.32	0.539	0.539	0.17156	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41026	0.1141	L	0.48174	1.505	0.26421	N	0.976101	D;D;D	0.67145	0.996;0.996;0.977	P;P;P	0.56088	0.791;0.791;0.562	T	0.22626	-1.0211	9	0.62326	D	0.03	.	6.8229	0.23866	0.0:0.9998:0.0:2.0E-4	.	887;899;899	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	S	887;899	ENSP00000340524:G887S;ENSP00000428878:G899S	ENSP00000340524:G887S	G	-	1	0	ZNF721	425561	0.012000	0.17670	0.011000	0.14972	0.040000	0.13550	0.283000	0.18846	0.525000	0.28522	0.205000	0.17691	GGC		PASS	0.383	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		6	25	6	25	---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16504484	16504484	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:16504484C>A	ENST00000304523.5	-	8	1227	c.904G>T	c.(904-906)Gta>Tta	p.V302L	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000503178.2_3'UTR|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.V300L	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	302	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.V302L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGCTCTCCTACCACCATCACA	0.488																																						uc003goz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(904-906)GTA>TTA		LIM domain binding 2 isoform a							167.0	150.0	156.0					4																	16504484		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16504484C>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.904G>T	4.37:g.16504484C>A	ENSP00000306772:p.Val302Leu					LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Missense_Mutation_p.V300L|LDB2_uc011bxh.1_Missense_Mutation_p.V274L|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Missense_Mutation_p.V177L|LDB2_uc011bxi.1_3'UTR	p.V302L	NM_001290	NP_001281	O43679	LDB2_HUMAN			8	1220	-			302			LIM-binding domain (LID) (By similarity).		O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.904G>T	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.79|16.79	3.221160|3.221160	0.58560|0.58560	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000515064;ENST00000304523|ENST00000507464	T;T|.	0.26810|.	1.71;1.71|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|T	0.82181|0.82181	0.4981|0.4981	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	P;P;B;P|.	0.44690|.	0.841;0.684;0.004;0.492|.	P;B;B;B|.	0.55824|.	0.785;0.319;0.004;0.161|.	T|T	0.82934|0.82934	-0.0211|-0.0211	10|5	0.44086|.	T|.	0.13|.	-7.7755|-7.7755	18.6327|18.6327	0.91366|0.91366	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	266;300;302;276|.	B7Z6D0;G5E9Y7;O43679;O43679-3|.	.;.;LDB2_HUMAN;.|.	L|C	300;302|222	ENSP00000422552:V300L;ENSP00000306772:V302L|.	ENSP00000306772:V302L|.	V|W	-|-	1|3	0|0	LDB2|LDB2	16113582|16113582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	GTA|TGG		PASS	0.488	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			13	116	13	116	---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20852181	20852181	+	Nonsense_Mutation	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:20852181G>C	ENST00000382152.2	-	3	440	c.273C>G	c.(271-273)taC>taG	p.Y91*	KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_Nonsense_Mutation_p.Y29*|KCNIP4_ENST00000447367.2_Nonsense_Mutation_p.Y57*|KCNIP4_ENST00000382148.3_Nonsense_Mutation_p.Y66*|KCNIP4_ENST00000359001.5_Nonsense_Mutation_p.Y29*|KCNIP4_ENST00000382150.4_Nonsense_Mutation_p.Y70*	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	91	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.Y70*(1)|p.Y66*(1)|p.Y57*(1)|p.Y91*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TAAATCCTCTGTAAAGGATCT	0.438																																						uc003gqe.2																			4	Substitution - Nonsense(4)		lung(4)		0						c.(220-222)TAC>TAG		Kv channel interacting protein 4 isoform 3							92.0	98.0	96.0					4																	20852181		2203	4300	6503	SO:0001587	stop_gained	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20852181G>C	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.273C>G	4.37:g.20852181G>C	ENSP00000371587:p.Tyr91*					KCNIP4_uc003gqf.1_Nonsense_Mutation_p.Y70*|KCNIP4_uc003gqg.1_Nonsense_Mutation_p.Y29*|KCNIP4_uc003gqh.1_Nonsense_Mutation_p.Y66*|KCNIP4_uc003gqi.1_Nonsense_Mutation_p.Y29*|KCNIP4_uc010iel.2_Nonsense_Mutation_p.Y71*|KCNIP4_uc003gqd.3_Nonsense_Mutation_p.Y54*	p.Y74*	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN			2	306	-		Breast(46;0.134)	91			EF-hand 1; degenerate.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Nonsense_Mutation	SNP	ENST00000382152.2	37	c.222C>G	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353240	0.95830	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	.	.	.	5.12	5.12	0.69794	.	0.177320	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2404	0.43308	0.1237:0.0:0.8763:0.0	.	.	.	.	X	66;57;70;29;91;29;29	.	ENSP00000351892:Y29X	Y	-	3	2	KCNIP4	20461279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.890000	0.48609	2.521000	0.84997	0.655000	0.94253	TAC		PASS	0.438	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		121	62	121	62	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22389781	22389781	+	Silent	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:22389781G>A	ENST00000334304.5	-	19	3782	c.3513C>T	c.(3511-3513)caC>caT	p.H1171H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1171					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.H1171H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGTTTTTATGGTGGCGGCTTG	0.463																																						uc003gqm.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3511-3513)CAC>CAT		G protein-coupled receptor 125 precursor							69.0	64.0	66.0					4																	22389781		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389781G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3513C>T	4.37:g.22389781G>A						GPR125_uc010ieo.1_Silent_p.H1027H|GPR125_uc003gql.1_Silent_p.H298H	p.H1171H	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			19	3778	-		Breast(46;0.198)	1171			Cytoplasmic (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.3513C>T	CCDS33964.1																																																																																				PASS	0.463	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			15	65	15	65	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47605631	47605631	+	Silent	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:47605631A>G	ENST00000273857.4	-	20	2594	c.2595T>C	c.(2593-2595)caT>caC	p.H865H	CORIN_ENST00000508498.1_Silent_p.H726H|CORIN_ENST00000502252.1_Silent_p.H798H|CORIN_ENST00000505909.1_Silent_p.H828H	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	865	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.H865H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACACTGATGGATGGTCTAGAT	0.443																																						uc003gxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2593-2595)CAT>CAC		corin							144.0	125.0	131.0					4																	47605631		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47605631A>G	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2595T>C	4.37:g.47605631A>G						CORIN_uc011bzf.1_Silent_p.H726H|CORIN_uc011bzg.1_Silent_p.H798H	p.H865H	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			20	2688	-			865			Extracellular (Potential).|Peptidase S1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.2595T>C	CCDS3477.1																																																																																				PASS	0.443	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			43	43	43	43	---	---	---	---
CNOT6L	246175	broad.mit.edu	37	4	78695839	78695839	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:78695839C>A	ENST00000504123.1	-	3	289	c.159G>T	c.(157-159)tgG>tgT	p.W53C	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.W53C			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	53	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.W82C(1)|p.W53C(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GTGTCAATGACCAAAGTGATG	0.428																																						uc011ccd.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(157-159)TGG>TGT		CCR4-NOT transcription complex, subunit 6-like							78.0	73.0	75.0					4																	78695839		1957	4165	6122	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78695839C>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.159G>T	4.37:g.78695839C>A	ENSP00000424896:p.Trp53Cys					CNOT6L_uc003hks.2_Missense_Mutation_p.W53C|CNOT6L_uc011cce.1_Missense_Mutation_p.W53C	p.W53C	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			3	290	-			53					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.159G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.91|19.91	3.914356|3.914356	0.72983|0.72983	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	.|T;T;T;T	.|0.79454	.|-1.27;-1.27;-1.27;2.33	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88209|0.88209	0.6375|0.6375	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.72338	.|0.977;0.977	D|D	0.90484|0.90484	0.4462|0.4462	5|10	.|0.87932	.|D	.|0	-14.1279|-14.1279	17.1159|17.1159	0.86688|0.86688	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|53;53	.|B4E2S0;Q96LI5	.|.;CNO6L_HUMAN	F|C	82|53;53;60;53	.|ENSP00000424896:W53C;ENSP00000264903:W53C;ENSP00000425571:W60C;ENSP00000426269:W53C	.|ENSP00000264903:W53C	V|W	-|-	1|3	0|0	CNOT6L|CNOT6L	78914863|78914863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.970000|5.970000	0.70431|0.70431	2.071000|2.071000	0.62044|0.62044	0.561000|0.561000	0.74099|0.74099	GTC|TGG		PASS	0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			25	22	25	22	---	---	---	---
PPA2	27068	broad.mit.edu	37	4	106359127	106359127	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:106359127C>T	ENST00000341695.5	-	6	538	c.508G>A	c.(508-510)Gtt>Att	p.V170I	PPA2_ENST00000380004.2_Missense_Mutation_p.V152I|PPA2_ENST00000357415.4_Missense_Mutation_p.V185I|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000310267.7_Missense_Mutation_p.V91I|PPA2_ENST00000348706.5_Intron|PPA2_ENST00000354147.3_Intron|PPA2_ENST00000432483.2_Intron	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	170					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)	p.V170I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		ATTTCGCAAACATCAATAGGA	0.313																																						uc003hxl.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(508-510)GTT>ATT		inorganic pyrophosphatase 2 isoform 1 precursor							106.0	108.0	107.0					4																	106359127		2202	4300	6502	SO:0001583	missense	27068				diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding	g.chr4:106359127C>T		CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.508G>A	4.37:g.106359127C>T	ENSP00000343885:p.Val170Ile					PPA2_uc003hxm.2_Missense_Mutation_p.V152I|PPA2_uc003hxn.2_Intron|PPA2_uc003hxo.2_Intron|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Missense_Mutation_p.V77I|PPA2_uc003hxr.2_Missense_Mutation_p.V77I|PPA2_uc011cfa.1_Missense_Mutation_p.V77I	p.V170I	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)	6	528	-		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)	170					B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	ENST00000341695.5	37	c.508G>A	CCDS3667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.558001|4.558001	0.86231|0.86231	.|.	.|.	ENSG00000138777|ENSG00000138777	ENST00000508518|ENST00000341695;ENST00000357415;ENST00000380004;ENST00000510015;ENST00000310267;ENST00000504028	.|T;T;T;T;T;T	.|0.54279	.|0.58;0.58;0.58;0.58;0.58;0.58	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67306|0.67306	0.2879|0.2879	M|M	0.65320|0.65320	2|2	0.80722|0.80722	D|D	1|1	.|B;D;P	.|0.52996	.|0.352;0.957;0.681	.|B;P;P	.|0.56960	.|0.231;0.81;0.714	T|T	0.68447|0.68447	-0.5406|-0.5406	5|10	.|0.54805	.|T	.|0.06	-11.7305|-11.7305	19.1895|19.1895	0.93658|0.93658	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|91;152;170	.|B4DFH3;E2QRM6;Q9H2U2	.|.;.;IPYR2_HUMAN	I|I	148|170;185;152;97;91;165	.|ENSP00000343885:V170I;ENSP00000349996:V185I;ENSP00000369340:V152I;ENSP00000423363:V97I;ENSP00000311150:V91I;ENSP00000421177:V165I	.|ENSP00000311150:V91I	M|V	-|-	3|1	0|0	PPA2|PPA2	106578576|106578576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.035000|2.035000	0.41155|0.41155	2.526000|2.526000	0.85167|0.85167	0.563000|0.563000	0.77884|0.77884	ATG|GTT		PASS	0.313	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869		29	9	29	9	---	---	---	---
PDE5A	8654	broad.mit.edu	37	4	120474846	120474846	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:120474846T>C	ENST00000354960.3	-	8	1574	c.1255A>G	c.(1255-1257)Atg>Gtg	p.M419V	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.M367V|PDE5A_ENST00000264805.5_Missense_Mutation_p.M377V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	419	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.M419V(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AGTGGTTCCATAGTATTTTTG	0.353																																						uc003idh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1255-1257)ATG>GTG		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						224.0	220.0	221.0					4																	120474846		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120474846T>C	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1255A>G	4.37:g.120474846T>C	ENSP00000347046:p.Met419Val					PDE5A_uc003idf.2_Missense_Mutation_p.M377V|PDE5A_uc003idg.2_Missense_Mutation_p.M367V	p.M419V	NM_001083	NP_001074	O76074	PDE5A_HUMAN			8	1410	-			419			GAF 2.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1255A>G	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.201720	0.38905	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.66815	-0.23;-0.23;-0.23	5.82	5.82	0.92795	GAF (2);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.63428	1.95	0.80722	D	1	B;P	0.40083	0.322;0.702	B;B	0.36845	0.222;0.234	T	0.70121	-0.4959	10	0.66056	D	0.02	.	15.854	0.78960	0.0:0.0:0.0:1.0	.	419;377	O76074;O76074-2	PDE5A_HUMAN;.	V	419;367;377	ENSP00000347046:M419V;ENSP00000377957:M367V;ENSP00000264805:M377V	ENSP00000264805:M377V	M	-	1	0	PDE5A	120694294	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.587000	0.82613	2.221000	0.72209	0.528000	0.53228	ATG		PASS	0.353	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		63	94	63	94	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151509200	151509200	+	Splice_Site	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:151509200C>A	ENST00000357115.3	-	41	6606	c.6363G>T	c.(6361-6363)aaG>aaT	p.K2121N	LRBA_ENST00000510413.1_Splice_Site_p.K2110N|LRBA_ENST00000535741.1_Splice_Site_p.K2110N|LRBA_ENST00000507224.1_Splice_Site_p.K2110N	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2121						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K2121N(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATCTTCTCACCTTGGGGTCGA	0.438																																						uc010ipj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(6361-6363)AAG>AAT		LPS-responsive vesicle trafficking, beach and							162.0	177.0	172.0					4																	151509200		2203	4299	6502	SO:0001630	splice_region_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151509200C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6363+1G>T	4.37:g.151509200C>A						LRBA_uc003ilt.3_Missense_Mutation_p.K769N|LRBA_uc003ilu.3_Missense_Mutation_p.K2110N	p.K2121N	NM_006726	NP_006717	P50851	LRBA_HUMAN			41	6837	-	all_hematologic(180;0.151)		2121					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6363G>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.98|13.98	2.398076|2.398076	0.42512|0.42512	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.58652|.	0.74;0.89;0.76;0.32|.	5.9|5.9	5.9|5.9	0.94986|0.94986	PH-BEACH domain (1);|.	0.049782|.	0.85682|.	D|.	0.000000|.	T|T	0.73745|0.73745	0.3626|0.3626	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;B|.	0.46512|.	0.879;0.006|.	B;B|.	0.31442|.	0.13;0.005|.	T|T	0.68845|0.68845	-0.5301|-0.5301	9|5	.|.	.|.	.|.	.|.	20.2664|20.2664	0.98460|0.98460	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2121;2110|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	N|I	2110;2110;2121;2110|763	ENSP00000446299:K2110N;ENSP00000421552:K2110N;ENSP00000349629:K2121N;ENSP00000422180:K2110N|.	.|.	K|R	-|-	3|2	2|0	LRBA|LRBA	151728650|151728650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.083000|6.083000	0.71326|0.71326	2.786000|2.786000	0.95864|0.95864	0.561000|0.561000	0.74099|0.74099	AAG|AGA		PASS	0.438	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		Missense_Mutation	154	261	154	261	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155253927	155253927	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:155253927G>A	ENST00000357232.4	-	9	1935	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DCHS2_ENST00000339452.1_Missense_Mutation_p.R1145W|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	646	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R646W(1)|p.R1145W(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)		AACTGTCGCCGCAAATAAATC	0.502																																						uc003inw.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(1936-1938)CGG>TGG		dachsous 2 isoform 1							50.0	56.0	54.0					4																	155253927		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253927G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1936C>T	4.37:g.155253927G>A	ENSP00000349768:p.Arg646Trp					DCHS2_uc003inx.2_Missense_Mutation_p.R1145W	p.R646W	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1936	-	all_hematologic(180;0.208)	Renal(120;0.0854)	646			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1936C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421343	0.62622	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.61510	0.1;0.6	5.06	3.17	0.36434	Cadherin (3);Cadherin-like (1);	0.000000	0.53938	D	0.000042	T	0.78704	0.4325	M	0.88450	2.955	0.34695	D	0.72613	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.88061	0.2794	10	0.72032	D	0.01	.	15.1885	0.73023	0.0:0.0:0.6519:0.348	.	1145;646	E9PC11;Q6V1P9	.;PCD23_HUMAN	W	646;1145;1145	ENSP00000349768:R646W;ENSP00000345062:R1145W	ENSP00000345062:R1145W	R	-	1	2	DCHS2	155473377	0.974000	0.33945	0.974000	0.42286	0.972000	0.66771	1.171000	0.31896	1.203000	0.43233	0.655000	0.94253	CGG		PASS	0.502	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	93	4	93	---	---	---	---
MARCH1	55016	broad.mit.edu	37	4	165118456	165118456	+	Intron	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:165118456C>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L136L(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGTGAGTTGCAGGAGAAGCT	0.502																																						uc011cjk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(406-408)CTG>CTT		acidic nuclear phosphoprotein 32C							156.0	145.0	149.0					4																	165118456		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118456C>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85642G>T	4.37:g.165118456C>A						MARCH1_uc003iqs.1_Intron	p.L136L	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	408	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	136					D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.408G>T	CCDS54814.1																																																																																				PASS	0.502	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		57	21	57	21	---	---	---	---
CMBL	134147	broad.mit.edu	37	5	10290792	10290792	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:10290792T>C	ENST00000296658.3	-	2	503	c.83A>G	c.(82-84)gAg>gGg	p.E28G	CMBL_ENST00000510532.1_5'UTR|Y_RNA_ENST00000516532.1_RNA	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	28						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.E28G(1)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CTTGATGTGCTCGACTTGAAC	0.473																																						uc003jes.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(82-84)GAG>GGG		carboxymethylenebutenolidase							181.0	177.0	178.0					5																	10290792		2203	4300	6503	SO:0001583	missense	134147					cytosol	hydrolase activity|protein binding	g.chr5:10290792T>C		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.83A>G	5.37:g.10290792T>C	ENSP00000296658:p.Glu28Gly						p.E28G	NM_138809	NP_620164	Q96DG6	CMBL_HUMAN			2	534	-			28					D3DTC7|Q8TED6	Missense_Mutation	SNP	ENST00000296658.3	37	c.83A>G	CCDS3878.1	.	.	.	.	.	.	.	.	.	.	t	15.37	2.812156	0.50527	.	.	ENSG00000164237	ENST00000296658	T	0.41758	0.99	5.58	3.2	0.36748	.	0.166139	0.51477	N	0.000088	T	0.20941	0.0504	N	0.16233	0.39	0.47584	D	0.999469	B	0.15141	0.012	B	0.12156	0.007	T	0.13818	-1.0495	10	0.02654	T	1	-24.5594	8.9767	0.35939	0.0:0.1501:0.0:0.8499	.	28	Q96DG6	CMBL_HUMAN	G	28	ENSP00000296658:E28G	ENSP00000296658:E28G	E	-	2	0	CMBL	10343792	1.000000	0.71417	0.967000	0.41034	0.726000	0.41606	4.309000	0.59135	0.426000	0.26116	0.524000	0.50904	GAG		PASS	0.473	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		156	368	156	368	---	---	---	---
ROPN1L	83853	broad.mit.edu	37	5	10450186	10450186	+	Missense_Mutation	SNP	G	G	C	rs539771885		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:10450186G>C	ENST00000503804.1	+	4	899	c.378G>C	c.(376-378)tgG>tgC	p.W126C	ROPN1L_ENST00000274134.4_Missense_Mutation_p.W126C|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	126					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.W126C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						AAATCAAGTGGATAAACTTTT	0.388																																						uc003jex.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)TGG>TGC		ropporin 1-like							131.0	127.0	129.0					5																	10450186		2203	4300	6503	SO:0001583	missense	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10450186G>C	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.378G>C	5.37:g.10450186G>C	ENSP00000421405:p.Trp126Cys						p.W126C	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			3	649	+			126					D3DTC9|Q9BZX0	Missense_Mutation	SNP	ENST00000503804.1	37	c.378G>C	CCDS3879.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592523	0.46214	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	T;T	0.19806	2.12;2.12	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.60321	-0.7286	10	0.87932	D	0	-7.6638	15.7607	0.78076	0.0:0.0:1.0:0.0	.	126	Q96C74	ROP1L_HUMAN	C	126	ENSP00000421405:W126C;ENSP00000274134:W126C	ENSP00000274134:W126C	W	+	3	0	ROPN1L	10503186	1.000000	0.71417	0.977000	0.42913	0.096000	0.18686	7.919000	0.87513	2.519000	0.84933	0.655000	0.94253	TGG		PASS	0.388	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		80	191	80	191	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19483655	19483655	+	Missense_Mutation	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:19483655G>C	ENST00000507958.1	-	14	2627	c.1637C>G	c.(1636-1638)aCa>aGa	p.T546R	CDH18_ENST00000506372.1_Intron|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000274170.4_Missense_Mutation_p.T546R|CDH18_ENST00000382275.1_Missense_Mutation_p.T546R			Q13634	CAD18_HUMAN	cadherin 18, type 2	546	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T546R(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATGCTGGCTGTGTTATCTAT	0.408																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1636-1638)ACA>AGA		cadherin 18, type 2 preproprotein							79.0	69.0	72.0					5																	19483655		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483655G>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1637C>G	5.37:g.19483655G>C	ENSP00000425093:p.Thr546Arg					CDH18_uc003jgd.2_Missense_Mutation_p.T546R|CDH18_uc011cnm.1_Intron	p.T546R	NM_004934	NP_004925	Q13634	CAD18_HUMAN			11	2014	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		546			Extracellular (Potential).|Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1637C>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995619	0.74703	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.63417	-0.04;-0.04;-0.04	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.053133	0.85682	D	0.000000	T	0.81559	0.4848	M	0.86573	2.825	0.51012	D	0.999901	D	0.54397	0.966	D	0.64877	0.93	T	0.83023	-0.0166	9	.	.	.	.	18.3739	0.90428	0.0:0.0:1.0:0.0	.	546	Q13634	CAD18_HUMAN	R	546	ENSP00000371710:T546R;ENSP00000425093:T546R;ENSP00000274170:T546R	.	T	-	2	0	CDH18	19519412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.512000	0.81728	2.696000	0.92011	0.655000	0.94253	ACA		PASS	0.408	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		38	79	38	79	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24535924	24535924	+	Silent	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:24535924A>G	ENST00000264463.4	-	4	1041	c.534T>C	c.(532-534)tcT>tcC	p.S178S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S178S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGCACCACAGAAGTACCTG	0.458										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(532-534)TCT>TCC		cadherin 10, type 2 preproprotein							98.0	89.0	92.0					5																	24535924		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535924A>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.534T>C	5.37:g.24535924A>G		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.S178S	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	866	-			178			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.534T>C	CCDS3892.1																																																																																				PASS	0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		37	55	37	55	---	---	---	---
CAPSL	133690	broad.mit.edu	37	5	35921087	35921087	+	Splice_Site	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:35921087T>C	ENST00000397367.2	-	2	262	c.136A>G	c.(136-138)Aga>Gga	p.R46G	CAPSL_ENST00000397366.1_Splice_Site_p.R46G|CAPSL_ENST00000514524.1_Splice_Site_p.R46G	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	46	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.R46G(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GGGTCCTACCTGCCAAGTCCT	0.582																																						uc003jjt.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(136-138)AGA>GGA		calcyphosine-like							85.0	76.0	79.0					5																	35921087		2203	4300	6503	SO:0001630	splice_region_variant	133690					cytoplasm	calcium ion binding	g.chr5:35921087T>C	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.137+1A>G	5.37:g.35921087T>C						CAPSL_uc003jju.1_Missense_Mutation_p.R46G	p.R46G	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		2	231	-	all_lung(31;0.000268)		46			EF-hand 1.			Missense_Mutation	SNP	ENST00000397367.2	37	c.136A>G	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677470	0.88445	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	4.8	4.8	0.61643	EF-hand-like domain (1);	0.043530	0.85682	D	0.000000	D	0.84000	0.5376	M	0.90425	3.115	0.80722	D	1	P	0.34892	0.474	P	0.45474	0.482	D	0.86817	0.2002	10	0.87932	D	0	-16.8471	14.2993	0.66336	0.0:0.0:0.0:1.0	.	46	Q8WWF8	CAPSL_HUMAN	G	46	ENSP00000380524:R46G;ENSP00000380523:R46G;ENSP00000424806:R46G;ENSP00000421018:R46G	ENSP00000380523:R46G	R	-	1	2	CAPSL	35956844	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.032000	0.76498	1.917000	0.55516	0.460000	0.39030	AGA		PASS	0.582	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647	Missense_Mutation	48	84	48	84	---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36114583	36114583	+	Missense_Mutation	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:36114583C>G	ENST00000296603.4	-	13	2045	c.1583G>C	c.(1582-1584)gGa>gCa	p.G528A		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	528						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G528A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATATAGAATCCATCTGCAAT	0.303																																						uc003jkb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1582-1584)GGA>GCA		LMBR1 domain containing 2							62.0	68.0	66.0					5																	36114583		2194	4286	6480	SO:0001583	missense	92255					integral to membrane		g.chr5:36114583C>G		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1583G>C	5.37:g.36114583C>G	ENSP00000296603:p.Gly528Ala						p.G528A	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		13	1998	-	all_lung(31;0.000146)		528			Helical; (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.1583G>C	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395823	0.83011	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.40756	1.02	5.47	5.47	0.80525	LMBR1-like membrane protein (1);	0.048989	0.85682	D	0.000000	T	0.56702	0.2003	M	0.79123	2.44	0.80722	D	1	D	0.58620	0.983	P	0.55824	0.785	T	0.53732	-0.8397	10	0.18276	T	0.48	-17.6658	14.2082	0.65748	0.1494:0.8506:0.0:0.0	.	528	Q68DH5	LMBD2_HUMAN	A	528;422	ENSP00000296603:G528A	ENSP00000296603:G528A	G	-	2	0	LMBRD2	36150340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.441000	0.66569	2.568000	0.86640	0.655000	0.94253	GGA		PASS	0.303	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		66	95	66	95	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41052595	41052595	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:41052595G>T	ENST00000399564.4	-	12	1652	c.1202C>A	c.(1201-1203)tCc>tAc	p.S401Y	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	401								p.S401Y(1)									TGCAAACTGGGAGAAGACATA	0.398																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(1201-1203)TCC>TAC		HEAT repeat family member 7B2							111.0	105.0	107.0					5																	41052595		1881	4106	5987	SO:0001583	missense	133558						binding	g.chr5:41052595G>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.1202C>A	5.37:g.41052595G>T	ENSP00000382476:p.Ser401Tyr					HEATR7B2_uc003jmi.3_Intron	p.S401Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			12	1692	-			401					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1202C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876381	0.33162	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.70164	-0.46	5.53	3.41	0.39046	Armadillo-type fold (1);	0.542306	0.17097	N	0.187134	T	0.55178	0.1904	L	0.40543	1.245	0.28726	N	0.902766	B	0.22983	0.078	B	0.28232	0.087	T	0.49214	-0.8963	10	0.29301	T	0.29	.	8.4081	0.32627	0.2066:0.0:0.7934:0.0	.	401	Q7Z745	HTRB2_HUMAN	Y	105;401	ENSP00000382476:S401Y	ENSP00000296803:S105Y	S	-	2	0	HEATR7B2	41088352	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	1.979000	0.40608	1.328000	0.45358	0.655000	0.94253	TCC		PASS	0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		52	70	52	70	---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75950761	75950761	+	Silent	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:75950761T>C	ENST00000274364.6	+	20	2550	c.2253T>C	c.(2251-2253)aaT>aaC	p.N751N	IQGAP2_ENST00000502745.1_Silent_p.N247N|IQGAP2_ENST00000379730.3_Silent_p.N253N|IQGAP2_ENST00000396234.3_Silent_p.N247N	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	751	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.N751N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTTTGCAGAATAATGAAATTG	0.358																																						uc003kek.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(2251-2253)AAT>AAC		IQ motif containing GTPase activating protein 2							81.0	83.0	82.0					5																	75950761		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75950761T>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2253T>C	5.37:g.75950761T>C						IQGAP2_uc010izv.2_Silent_p.N304N|IQGAP2_uc011csv.1_Silent_p.N247N|IQGAP2_uc003kel.2_Silent_p.N247N	p.N751N	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	20	2475	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	751			IQ 3.		A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.2253T>C	CCDS34188.1																																																																																				PASS	0.358	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		3	66	3	66	---	---	---	---
KLHL3	26249	broad.mit.edu	37	5	136961565	136961565	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:136961565G>A	ENST00000309755.4	-	14	2055	c.1612C>T	c.(1612-1614)Ctc>Ttc	p.L538F	KLHL3_ENST00000508657.1_Missense_Mutation_p.L506F|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Missense_Mutation_p.L456F	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	538					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.L538F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACATACAGGAGCCCATTTACT	0.483																																						uc010jek.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1612-1614)CTC>TTC		kelch-like 3							168.0	142.0	151.0					5																	136961565		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136961565G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1612C>T	5.37:g.136961565G>A	ENSP00000312397:p.Leu538Phe					KLHL3_uc011cyc.1_Missense_Mutation_p.L273F|KLHL3_uc003lbr.3_Missense_Mutation_p.L456F|KLHL3_uc011cyd.1_RNA	p.L538F	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	14	2056	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	538					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.1612C>T	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844373	0.32606	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755	T;T;T	0.78707	-1.2;-1.2;-1.2	4.59	4.59	0.56863	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.74831	0.3768	L	0.33485	1.01	0.80722	D	1	B;B	0.34290	0.025;0.447	B;P	0.45913	0.073;0.497	T	0.72516	-0.4269	10	0.33141	T	0.24	.	12.6778	0.56903	0.0:0.0:0.8352:0.1648	.	273;538	B7Z6E2;Q9UH77	.;KLHL3_HUMAN	F	456;506;538	ENSP00000424828:L456F;ENSP00000422099:L506F;ENSP00000312397:L538F	ENSP00000312397:L538F	L	-	1	0	KLHL3	136989464	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.488000	0.60300	2.397000	0.81536	0.561000	0.74099	CTC		PASS	0.483	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			46	17	46	17	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137708464	137708464	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:137708464G>T	ENST00000314358.5	+	2	494	c.294G>T	c.(292-294)tgG>tgT	p.W98C		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	98					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.W98C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTCTTGTATGGGCGCCCCGTG	0.517																																						uc003lcy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(292-294)TGG>TGT		jumonji domain containing 1B							85.0	81.0	82.0					5																	137708464		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137708464G>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.294G>T	5.37:g.137708464G>T	ENSP00000326563:p.Trp98Cys					KDM3B_uc010jew.1_5'UTR	p.W98C	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			2	494	+			98					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.294G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950139	0.73787	.	.	ENSG00000120733	ENST00000314358	T	0.72725	-0.68	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.83801	0.5333	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.85420	0.1142	10	0.87932	D	0	-11.7155	18.7103	0.91653	0.0:0.0:1.0:0.0	.	98	Q7LBC6	KDM3B_HUMAN	C	98	ENSP00000326563:W98C	ENSP00000326563:W98C	W	+	3	0	KDM3B	137736363	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.908000	0.75730	2.652000	0.90054	0.563000	0.77884	TGG		PASS	0.517	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		5	75	5	75	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475752	140475752	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:140475752C>A	ENST00000194155.4	+	1	1526	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L460M(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTACACCCTGTTCGTCCG	0.622																																						uc003lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1378-1380)CTG>ATG		protocadherin beta 2 precursor							93.0	92.0	92.0					5																	140475752		2203	4297	6500	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475752C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1378C>A	5.37:g.140475752C>A	ENSP00000194155:p.Leu460Met					PCDHB2_uc003lim.1_Missense_Mutation_p.L121M	p.L460M	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1516	+			460			Extracellular (Potential).|Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1378C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	2.480	-0.319781	0.05386	.	.	ENSG00000112852	ENST00000194155	T	0.01787	4.64	5.11	3.24	0.37175	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01627	0.0052	N	0.16790	0.44	0.09310	N	1	P	0.46457	0.878	P	0.46275	0.51	T	0.50874	-0.8776	9	0.28530	T	0.3	.	3.8334	0.08883	0.3753:0.416:0.1289:0.0798	.	460	Q9Y5E7	PCDB2_HUMAN	M	460	ENSP00000194155:L460M	ENSP00000194155:L460M	L	+	1	2	PCDHB2	140455936	0.000000	0.05858	0.531000	0.27976	0.218000	0.24690	-0.146000	0.10250	0.594000	0.29761	-0.182000	0.12963	CTG		PASS	0.622	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		38	129	38	129	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140573497	140573497	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:140573497C>A	ENST00000239446.4	+	1	1556	c.1372C>A	c.(1372-1374)Ctg>Atg	p.L458M		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	458	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L458M(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTACACCCTGTTCGTCCG	0.617																																						uc003lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1372-1374)CTG>ATG		protocadherin beta 10 precursor							46.0	51.0	50.0					5																	140573497		2203	4290	6493	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573497C>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1372C>A	5.37:g.140573497C>A	ENSP00000239446:p.Leu458Met						p.L458M	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1546	+			458			Cadherin 5.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1372C>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	3.922	-0.017866	0.07681	.	.	ENSG00000120324	ENST00000239446	T	0.01787	4.64	3.22	1.4	0.22301	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01695	0.0054	N	0.12569	0.235	0.09310	N	1	P	0.50272	0.933	P	0.53102	0.718	T	0.48681	-0.9014	9	0.30078	T	0.28	.	0.7069	0.00917	0.2307:0.3925:0.1532:0.2235	.	458	Q9UN67	PCDBA_HUMAN	M	458	ENSP00000239446:L458M	ENSP00000239446:L458M	L	+	1	2	PCDHB10	140553681	0.000000	0.05858	0.902000	0.35471	0.347000	0.29111	-0.354000	0.07681	0.674000	0.31244	-0.360000	0.07572	CTG		PASS	0.617	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		47	11	47	11	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378594	156378594	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr5:156378594C>T	ENST00000274532.2	-	3	664	c.608G>A	c.(607-609)aGc>aAc	p.S203N	TIMD4_ENST00000407087.3_Missense_Mutation_p.S203N	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	203	Thr-rich.					integral component of membrane (GO:0016021)		p.S203N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGAAGGGTGCTTGGGGTTAG	0.537																																						uc003lwh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(607-609)AGC>AAC		T-cell immunoglobulin and mucin domain							324.0	284.0	297.0					5																	156378594		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156378594C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.608G>A	5.37:g.156378594C>T	ENSP00000274532:p.Ser203Asn					TIMD4_uc010jii.2_Missense_Mutation_p.S203N	p.S203N	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	665	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	203			Extracellular (Potential).|Thr-rich.		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.608G>A	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449799	0.43531	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.27104	1.69;2.0	4.47	-4.46	0.03536	.	1.130590	0.06599	N	0.753538	T	0.15262	0.0368	N	0.24115	0.695	0.09310	N	1	B;B	0.21821	0.061;0.061	B;B	0.13407	0.009;0.009	T	0.37126	-0.9719	10	0.62326	D	0.03	3.0E-4	7.5935	0.28035	0.0:0.2482:0.5148:0.2369	.	203;203	B5MCL9;Q96H15	.;TIMD4_HUMAN	N	203	ENSP00000274532:S203N;ENSP00000385973:S203N	ENSP00000274532:S203N	S	-	2	0	TIMD4	156311172	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.527000	0.02227	-0.683000	0.05190	0.561000	0.74099	AGC		PASS	0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		72	15	72	15	---	---	---	---
HIST1H1C	3006	broad.mit.edu	37	6	26056542	26056543	+	Missense_Mutation	DNP	GG	GG	AA	rs547650580		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:26056542_26056543GG>AA	ENST00000343677.2	-	1	156_157	c.114_115CC>TT	c.(112-117)ccCCcg>ccTTcg	p.P39S		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	39	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.P39S(2)|p.P39T(1)|p.P38P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTGACACCGGGGGACCAGACG	0.629																																						uc003nfw.2																			4	Substitution - Missense(3)|Substitution - coding silent(1)		lung(4)	ovary(3)|skin(2)	5						c.(115-117)CCG>TCG|c.(112-114)CCC>CCT		histone cluster 1, H1c																																				SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056542G>A|g.chr6:26056543G>A	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.114_115delinsAA	6.37:g.26056542_26056543delinsAA	ENSP00000339566:p.Pro39Ser						p.P39S|p.P38P	NM_005319	NP_005310	P16403	H12_HUMAN			1	158|157	-			39|38			H15.		A8K4I2	Missense_Mutation|Silent	SNP	ENST00000343677.2	37	c.115C>T|c.114C>T	CCDS4577.1																																																																																				PASS	0.629	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		22	86|85	22	85	---	---	---	---
BTN3A3	10384	broad.mit.edu	37	6	26446185	26446185	+	Silent	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:26446185G>T	ENST00000244519.2	+	5	930	c.687G>T	c.(685-687)ctG>ctT	p.L229L	BTN3A3_ENST00000339789.4_Silent_p.L187L|BTN3A3_ENST00000361232.3_Silent_p.L187L	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	229	Ig-like V-type 2.			L -> P (in Ref. 3; BAG63049). {ECO:0000305}.	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.L229L(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TCCTCGGCCTGGAAAAGACAG	0.547																																						uc003nhz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(685-687)CTG>CTT		butyrophilin, subfamily 3, member A3 isoform a							140.0	132.0	135.0					6																	26446185		2203	4300	6503	SO:0001819	synonymous_variant	10384					integral to membrane		g.chr6:26446185G>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.687G>T	6.37:g.26446185G>T						BTN3A3_uc003nia.2_Silent_p.L187L|BTN3A3_uc011dkn.1_Silent_p.L187L	p.L229L	NM_006994	NP_008925	O00478	BT3A3_HUMAN			5	867	+			229			Extracellular (Potential).|Ig-like V-type 2.		B4DWI7|E9PCP5	Silent	SNP	ENST00000244519.2	37	c.687G>T	CCDS4611.1																																																																																				PASS	0.547	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		95	85	95	85	---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27835194	27835194	+	Silent	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:27835194C>A	ENST00000331442.3	-	1	165	c.114G>T	c.(112-114)gcG>gcT	p.A38A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	38					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.A38A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GGGGCCCCGTCGCTTTGCGCT	0.627																																						uc003njx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(112-114)GCG>GCT		histone cluster 1, H1b							43.0	51.0	48.0					6																	27835194		2197	4300	6497	SO:0001819	synonymous_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835194C>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.114G>T	6.37:g.27835194C>A							p.A38A	NM_005322	NP_005313	P16401	H15_HUMAN			1	166	-			38					Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	c.114G>T	CCDS4635.1																																																																																				PASS	0.627	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		85	63	85	63	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29640508	29640508	+	IGR	SNP	C	C	A	rs368647820		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:29640508C>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.R460S|ZFP57_ENST00000376881.3_Missense_Mutation_p.R440S|ZFP57_ENST00000376883.1_Missense_Mutation_p.R440S	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						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.R440S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTTTATAGCCCCTCCAGTGAT	0.557																																						uc011dlw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1378-1380)AGG>AGT		zinc finger protein 57 homolog							80.0	83.0	82.0					6																	29640508		1243	2559	3802	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640508C>A		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		6.37:g.29640508C>A						ZFP57_uc003nnl.3_Missense_Mutation_p.R440S	p.R460S	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	1531	-			376			C2H2-type 7; degenerate.		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.1380G>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349804	0.24426	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.18810	2.19;2.19;2.19	4.53	3.61	0.41365	.	1.367970	0.04955	N	0.460938	T	0.11665	0.0284	M	0.64404	1.975	0.09310	N	1	B;B	0.25667	0.131;0.056	B;B	0.20955	0.032;0.022	T	0.35101	-0.9802	10	0.59425	D	0.04	-3.4277	10.422	0.44356	0.0:0.7184:0.2816:0.0	.	460;440	Q9NU63-3;Q9NU63-2	.;.	S	460;440;440	ENSP00000418259:R460S;ENSP00000366078:R440S;ENSP00000366080:R440S	ENSP00000366078:R440S	R	-	3	2	ZFP57	29748487	0.007000	0.16637	0.007000	0.13788	0.080000	0.17528	1.337000	0.33862	1.107000	0.41642	0.462000	0.41574	AGG		PASS	0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		42	82	42	82	---	---	---	---
C6orf136	221545	broad.mit.edu	37	6	30619233	30619233	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:30619233G>A	ENST00000376473.5	+	4	913	c.754G>A	c.(754-756)Gag>Aag	p.E252K	AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000293604.6_Missense_Mutation_p.E433K|C6orf136_ENST00000528347.2_Missense_Mutation_p.E109K|C6orf136_ENST00000376471.4_Missense_Mutation_p.E118K	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	252						mitochondrion (GO:0005739)		p.E109K(1)|p.E433K(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TGACAAAGACGAGCATTACCG	0.512																																						uc003nqw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(754-756)GAG>AAG		hypothetical protein LOC221545 isoform 1							102.0	116.0	111.0					6																	30619233		2203	4300	6503	SO:0001583	missense	221545							g.chr6:30619233G>A	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.754G>A	6.37:g.30619233G>A	ENSP00000365656:p.Glu252Lys					C6orf136_uc003nqx.3_Missense_Mutation_p.E433K|C6orf136_uc011dmn.1_Missense_Mutation_p.E118K	p.E252K	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN			4	947	+			252					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.754G>A	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575989	0.45902	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801;ENST00000468785	.	.	.	4.96	4.96	0.65561	.	0.370818	0.30492	N	0.009518	T	0.27241	0.0668	L	0.31926	0.97	0.38353	D	0.944394	P;P;P	0.44006	0.824;0.533;0.757	B;B;B	0.35413	0.202;0.051;0.196	T	0.14254	-1.0479	9	0.39692	T	0.17	-11.476	15.5994	0.76613	0.0:0.0:1.0:0.0	.	118;433;252	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	K	433;252;118;370;109;74;65;25	.	ENSP00000293604:E433K	E	+	1	0	C6orf136	30727212	0.992000	0.36948	0.997000	0.53966	0.947000	0.59692	2.530000	0.45641	2.733000	0.93635	0.655000	0.94253	GAG		PASS	0.512	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		188	172	188	172	---	---	---	---
BTNL2	56244	broad.mit.edu	37	6	32372966	32372966	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:32372966C>T	ENST00000374993.1	-	2	176	c.177G>A	c.(175-177)atG>atA	p.M59I	BTNL2_ENST00000454136.3_Missense_Mutation_p.M59I|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000429232.2_Missense_Mutation_p.M59I|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.M59I	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	59	Ig-like V-type 1.					integral component of membrane (GO:0016021)		p.M59I(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCTCCACGTGCATTGTGGTCC	0.562																																						uc003obg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(175-177)ATG>ATA		butyrophilin-like 2							156.0	151.0	153.0					6																	32372966		1510	2709	4219	SO:0001583	missense	56244					integral to membrane		g.chr6:32372966C>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.177G>A	6.37:g.32372966C>T	ENSP00000364132:p.Met59Ile					BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Intron	p.M59I	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			2	177	-			59			Ig-like V-type 1.|Extracellular (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.177G>A		.	.	.	.	.	.	.	.	.	.	C	7.346	0.621913	0.14193	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000374993;ENST00000429232;ENST00000446536	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.91	1.09	0.20402	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.831060	0.02544	N	0.094885	T	0.33147	0.0853	L	0.45581	1.43	0.09310	N	1	B	0.30146	0.27	B	0.24541	0.054	T	0.17899	-1.0354	10	0.45353	T	0.12	.	7.319	0.26517	0.0:0.5272:0.0:0.4728	.	59	Q9UIR0	BTNL2_HUMAN	I	59;59;59;59;58	ENSP00000364134:M59I;ENSP00000364132:M59I;ENSP00000411166:M59I;ENSP00000388434:M58I	ENSP00000364132:M59I	M	-	3	0	BTNL2	32480944	0.001000	0.12720	0.026000	0.17262	0.017000	0.09413	-0.358000	0.07641	0.094000	0.17404	0.632000	0.83419	ATG		PASS	0.562	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		77	109	77	109	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39881098	39881098	+	Silent	SNP	G	G	T	rs548975858		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:39881098G>T	ENST00000340692.5	-	6	723	c.720C>A	c.(718-720)ccC>ccA	p.P240P	MOCS1_ENST00000432280.2_Silent_p.P211P|MOCS1_ENST00000373195.3_Silent_p.P153P|MOCS1_ENST00000373188.2_Silent_p.P240P|MOCS1_ENST00000425303.2_Silent_p.P240P|MOCS1_ENST00000373186.4_Silent_p.P240P|MOCS1_ENST00000373175.4_Silent_p.P211P|MOCS1_ENST00000308559.7_Silent_p.P240P			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	240	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.P240P(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCACATCCAGGGGGAGGCCCT	0.572																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	uc003opb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)|central_nervous_system(1)	3						c.(718-720)CCC>CCA		molybdenum cofactor synthesis-step 1 protein							104.0	91.0	95.0					6																	39881098		2203	4300	6503	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39881098G>T	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.720C>A	6.37:g.39881098G>T						MOCS1_uc003opa.2_Silent_p.P240P|MOCS1_uc003opc.2_Silent_p.P240P|MOCS1_uc003opd.2_Silent_p.P240P|MOCS1_uc003ope.2_Silent_p.P153P	p.P240P	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN			5	858	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		240			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.720C>A																																																																																					PASS	0.572	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		19	72	19	72	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45405763	45405763	+	Silent	SNP	A	A	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:45405763A>C	ENST00000371438.1	+	4	1018	c.660A>C	c.(658-660)acA>acC	p.T220T	RUNX2_ENST00000352853.5_Silent_p.T288T|RUNX2_ENST00000371436.6_Silent_p.T220T|RUNX2_ENST00000541979.1_Silent_p.T288T|RUNX2_ENST00000576263.1_Silent_p.T220T|RUNX2_ENST00000465038.2_Silent_p.T220T|RUNX2_ENST00000371432.3_Silent_p.T206T|RUNX2_ENST00000359524.5_Silent_p.T206T	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	220	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.		T -> I (in CLCD; has severely impaired DNA binding and transactivation). {ECO:0000269|PubMed:12196916}.		BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T220T(1)|p.T288T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTAAAGTTACAGTAGATGGAC	0.408																																						uc011dvx.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(658-660)ACA>ACC		runt-related transcription factor 2 isoform a							151.0	153.0	152.0					6																	45405763		2203	4300	6503	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45405763A>C	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.660A>C	6.37:g.45405763A>C						RUNX2_uc011dvy.1_Silent_p.T220T|RUNX2_uc003oxt.2_Silent_p.T206T	p.T220T	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			5	870	+			220		T -> I (in CLCD; has severely impaired DNA binding and transactivation).	Runt.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.660A>C	CCDS43467.2																																																																																				PASS	0.408	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		89	144	89	144	---	---	---	---
ENPP5	59084	broad.mit.edu	37	6	46135373	46135373	+	Silent	SNP	T	T	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:46135373T>A	ENST00000371383.2	-	3	887	c.627A>T	c.(625-627)tcA>tcT	p.S209S	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Silent_p.S209S					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)									p.S209S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TGTCAATATCTGAAATGACAG	0.443																																						uc003oxz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(625-627)TCA>TCT		ectonucleotide pyrophosphatase/phosphodiesterase							81.0	77.0	78.0					6																	46135373		2203	4300	6503	SO:0001819	synonymous_variant	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46135373T>A	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.627A>T	6.37:g.46135373T>A						ENPP5_uc003oya.1_Silent_p.S209S|ENPP5_uc011dvz.1_Silent_p.S115S|ENPP5_uc010jzc.1_Silent_p.S209S	p.S209S	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN			2	835	-			209						Silent	SNP	ENST00000371383.2	37	c.627A>T	CCDS4915.1																																																																																				PASS	0.443	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			75	71	75	71	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100895281	100895281	+	Missense_Mutation	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:100895281C>G	ENST00000369208.3	-	9	1643	c.861G>C	c.(859-861)aaG>aaC	p.K287N	SIM1_ENST00000262901.4_Missense_Mutation_p.K287N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	287	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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.K287N(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)		TCACCTGTCCCTTCACCAGCA	0.592																																						uc003pqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(859-861)AAG>AAC		single-minded homolog 1							126.0	96.0	106.0					6																	100895281		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.chr6:100895281C>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.861G>C	6.37:g.100895281C>G	ENSP00000358210:p.Lys287Asn					SIM1_uc010kcu.2_Missense_Mutation_p.K287N	p.K287N	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	8	1068	-		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)	287			PAS 2.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.861G>C	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869984	0.72065	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.19250	2.16;2.16	6.02	2.9	0.33743	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52616	-0.8552	10	0.87932	D	0	.	9.7196	0.40295	0.0:0.6217:0.0:0.3783	.	287	P81133	SIM1_HUMAN	N	287	ENSP00000358210:K287N;ENSP00000262901:K287N	ENSP00000262901:K287N	K	-	3	2	SIM1	101002002	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.361000	0.34136	0.898000	0.36418	-0.150000	0.13652	AAG		PASS	0.592	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		30	36	30	36	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135811852	135811852	+	Missense_Mutation	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:135811852C>G	ENST00000367800.4	-	3	260	c.44G>C	c.(43-45)cGc>cCc	p.R15P	AHI1_ENST00000534469.1_Missense_Mutation_p.R15P|AHI1_ENST00000367798.2_Missense_Mutation_p.R15P|AHI1_ENST00000488690.2_Missense_Mutation_p.R15P|AHI1_ENST00000457866.2_Missense_Mutation_p.R15P|AHI1_ENST00000528103.1_Missense_Mutation_p.R15P|AHI1_ENST00000327035.6_Missense_Mutation_p.R15P|AHI1_ENST00000531527.1_5'Flank	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	15					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.R15P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTCTTCAAAGCGAACTTTGGT	0.353																																						uc003qgi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(43-45)CGC>CCC		Abelson helper integration site 1 isoform a							205.0	187.0	192.0					6																	135811852		1830	4081	5911	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135811852C>G	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.44G>C	6.37:g.135811852C>G	ENSP00000356774:p.Arg15Pro					AHI1_uc003qgh.2_Missense_Mutation_p.R15P|AHI1_uc003qgj.2_Missense_Mutation_p.R15P|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.R15P	p.R15P	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	5	428	-	Breast(56;0.239)|Colorectal(23;0.24)		15			Potential.		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.44G>C	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	C	5.052	0.195326	0.09599	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469;ENST00000488690;ENST00000367798;ENST00000528103;ENST00000534469	T;T;T;T;T	0.72505	1.09;1.09;1.09;1.09;-0.66	4.97	2.26	0.28386	.	0.278629	0.28072	N	0.016716	T	0.58264	0.2110	L	0.56769	1.78	0.34118	D	0.663753	B;B	0.33807	0.426;0.301	P;B	0.45377	0.478;0.285	T	0.58434	-0.7637	10	0.66056	D	0.02	-0.2174	7.2663	0.26232	0.0:0.7213:0.0:0.2787	.	15;15	Q8N157-2;Q8N157	.;AHI1_HUMAN	P	15	ENSP00000356774:R15P;ENSP00000388650:R15P;ENSP00000265602:R15P;ENSP00000322478:R15P;ENSP00000433063:R15P	ENSP00000265602:R15P	R	-	2	0	AHI1	135853545	1.000000	0.71417	0.989000	0.46669	0.454000	0.32378	0.812000	0.27211	0.168000	0.19655	-1.022000	0.02435	CGC		PASS	0.353	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		112	124	112	124	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152718077	152718077	+	Silent	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr6:152718077A>G	ENST00000367255.5	-	50	7990	c.7389T>C	c.(7387-7389)ctT>ctC	p.L2463L	SYNE1_ENST00000265368.4_Silent_p.L2463L|SYNE1_ENST00000448038.1_Silent_p.L2470L|SYNE1_ENST00000423061.1_Silent_p.L2470L|SYNE1_ENST00000341594.5_Silent_p.L2502L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2463					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.L2463L(2)|p.L2470L(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)		TCACTGCATCAAGTTTGCTCT	0.388										HNSCC(10;0.0054)																												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.(7387-7389)CTT>CTC		spectrin repeat containing, nuclear envelope 1							165.0	143.0	150.0					6																	152718077		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.chr6:152718077A>G	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.7389T>C	6.37:g.152718077A>G		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.L2470L|SYNE1_uc003qou.3_Silent_p.L2463L|SYNE1_uc010kjb.1_Silent_p.L2446L	p.L2463L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	50	7991	-		Ovarian(120;0.0955)	2463			Spectrin 4.|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.7389T>C	CCDS5236.2																																																																																				PASS	0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		76	65	76	65	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21469180	21469180	+	Missense_Mutation	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:21469180G>C	ENST00000222584.3	+	3	615	c.397G>C	c.(397-399)Ggg>Cgg	p.G133R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	133					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.G133R(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						CAGTAATAACGGGAGTGCATC	0.428																																						uc003sva.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(397-399)GGG>CGG		Sp4 transcription factor							81.0	76.0	77.0					7																	21469180		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469180G>C		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.397G>C	7.37:g.21469180G>C	ENSP00000222584:p.Gly133Arg					SP4_uc003svb.2_5'UTR	p.G133R	NM_003112	NP_003103	Q02446	SP4_HUMAN			3	578	+			133					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.397G>C	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544742	0.13312	.	.	ENSG00000105866	ENST00000222584	T	0.08896	3.04	4.46	4.46	0.54185	.	0.169745	0.53938	D	0.000060	T	0.06325	0.0163	N	0.24115	0.695	0.34097	D	0.66139	B	0.34015	0.435	B	0.29176	0.099	T	0.33007	-0.9885	10	0.15952	T	0.53	.	17.3279	0.87255	0.0:0.0:1.0:0.0	.	133	Q02446	SP4_HUMAN	R	133	ENSP00000222584:G133R	ENSP00000222584:G133R	G	+	1	0	SP4	21435705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.237000	0.89807	2.308000	0.77769	0.655000	0.94253	GGG		PASS	0.428	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		45	11	45	11	---	---	---	---
SCRN1	9805	broad.mit.edu	37	7	29966073	29966073	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:29966073C>A	ENST00000426154.1	-	7	1257	c.1081G>T	c.(1081-1083)Gac>Tac	p.D361Y	SCRN1_ENST00000425819.2_Missense_Mutation_p.D293Y|SCRN1_ENST00000242059.5_Missense_Mutation_p.D361Y|SCRN1_ENST00000434476.2_Missense_Mutation_p.D381Y|SCRN1_ENST00000409497.1_Missense_Mutation_p.D361Y|SCRN1_ENST00000416113.2_Missense_Mutation_p.D187Y	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	361					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)	p.D361Y(1)|p.D381Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CTCACCTGGTCACTTTCGATG	0.622																																						uc010kvp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1081-1083)GAC>TAC		secernin 1 isoform c							99.0	95.0	97.0					7																	29966073		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29966073C>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1081G>T	7.37:g.29966073C>A	ENSP00000409068:p.Asp361Tyr					SCRN1_uc011jzy.1_Missense_Mutation_p.D293Y|SCRN1_uc003tak.2_Missense_Mutation_p.D361Y|SCRN1_uc011jzz.1_Missense_Mutation_p.D361Y|SCRN1_uc011kaa.1_Missense_Mutation_p.D381Y|SCRN1_uc011jzw.1_Missense_Mutation_p.D228Y|SCRN1_uc011jzx.1_Missense_Mutation_p.D184Y	p.D361Y	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN			6	1285	-			361					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.1081G>T	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493351	0.26774	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	T;T;T;T;T;T	0.12361	3.19;3.19;3.04;3.19;2.69;3.18	5.78	5.78	0.91487	.	0.442058	0.24611	N	0.037051	T	0.19725	0.0474	M	0.61703	1.905	0.33041	D	0.531418	B;P;B;B	0.37158	0.356;0.585;0.087;0.356	B;B;B;B	0.37047	0.163;0.24;0.046;0.078	T	0.10451	-1.0629	9	.	.	.	-5.491	18.6394	0.91390	0.0:1.0:0.0:0.0	.	381;381;293;361	C9JPG0;B4DHM0;B4DIP5;Q12765	.;.;.;SCRN1_HUMAN	Y	361;361;293;165;361;187;381	ENSP00000242059:D361Y;ENSP00000409068:D361Y;ENSP00000414245:D293Y;ENSP00000386872:D361Y;ENSP00000407460:D187Y;ENSP00000388942:D381Y	.	D	-	1	0	SCRN1	29932598	0.999000	0.42202	0.755000	0.31263	0.030000	0.12068	2.337000	0.43947	2.763000	0.94921	0.650000	0.86243	GAC		PASS	0.622	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		95	21	95	21	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48285534	48285534	+	Silent	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:48285534C>A	ENST00000435803.1	+	13	1590	c.1566C>A	c.(1564-1566)tcC>tcA	p.S522S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	522					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S522S(1)|p.S467S(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						CTGGAAACTCCAGCATATGGG	0.463																																						uc003toq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(1564-1566)TCC>TCA		ATP binding cassette, sub-family A (ABC1),							87.0	81.0	83.0					7																	48285534		1873	4104	5977	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48285534C>A	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.1566C>A	7.37:g.48285534C>A						ABCA13_uc010kyr.2_Silent_p.S25S	p.S522S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			13	1591	+			522					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.1566C>A	CCDS47584.1																																																																																				PASS	0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		41	5	41	5	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57188389	57188389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:57188389C>A	ENST00000331162.4	-	5	1003	c.733G>T	c.(733-735)Gaa>Taa	p.E245*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	245					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.E245*(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)			TTGCCACATTCCTCACATCTA	0.408																																						uc010kzo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(733-735)GAA>TAA		zinc finger protein 479							31.0	32.0	31.0					7																	57188389		2061	4218	6279	SO:0001587	stop_gained	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188389C>A	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.733G>T	7.37:g.57188389C>A	ENSP00000333776:p.Glu245*						p.E245*	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1004	-			245			C2H2-type 3.			Nonsense_Mutation	SNP	ENST00000331162.4	37	c.733G>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	17.43	3.388578	0.61956	.	.	ENSG00000185177	ENST00000331162	.	.	.	0.946	0.946	0.19549	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.3316	0.07087	0.0:0.6852:0.0:0.3148	.	.	.	.	X	245	.	ENSP00000333776:E245X	E	-	1	0	ZNF479	57192331	0.000000	0.05858	0.135000	0.22099	0.111000	0.19643	-0.040000	0.12104	0.399000	0.25367	0.400000	0.26472	GAA		PASS	0.408	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		28	15	28	15	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71130455	71130455	+	Missense_Mutation	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:71130455G>C	ENST00000333538.5	+	7	1774	c.1140G>C	c.(1138-1140)gaG>gaC	p.E380D	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	380	Catalytic subdomain B.				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.E380D(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)				CCCACATTGAGCGGAAGAAGA	0.493																																						uc003tvy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1138-1140)GAG>GAC		UDP-GalNAc:polypeptide							107.0	100.0	103.0					7																	71130455		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71130455G>C	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.1140G>C	7.37:g.71130455G>C	ENSP00000329654:p.Glu380Asp					WBSCR17_uc003tvz.2_Missense_Mutation_p.E79D	p.E380D	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			7	1140	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	380			Catalytic subdomain B.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1140G>C	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907682	0.33721	.	.	ENSG00000185274	ENST00000333538	T	0.62941	-0.01	5.85	5.85	0.93711	.	0.053441	0.64402	D	0.000001	T	0.62816	0.2459	M	0.75777	2.31	0.35786	D	0.822032	B	0.27679	0.185	B	0.29942	0.109	T	0.70633	-0.4818	10	0.72032	D	0.01	.	10.6346	0.45558	0.1461:0.0:0.8539:0.0	.	380	Q6IS24	GLTL3_HUMAN	D	380	ENSP00000329654:E380D	ENSP00000329654:E380D	E	+	3	2	WBSCR17	70768391	0.702000	0.27816	1.000000	0.80357	0.990000	0.78478	-0.121000	0.10643	2.770000	0.95276	0.563000	0.77884	GAG		PASS	0.493	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		76	118	76	118	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82455955	82455955	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:82455955C>T	ENST00000333891.9	-	18	14702	c.14365G>A	c.(14365-14367)Gtg>Atg	p.V4789M	PCLO_ENST00000423517.2_Missense_Mutation_p.V4789M|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.V4789M(2)		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						CAAACTGTCACCTCCAGTGTT	0.363																																						uc003uhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(14365-14367)GTG>ATG		piccolo isoform 1							130.0	124.0	126.0					7																	82455955		1834	4089	5923	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.chr7:82455955C>T	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.14365G>A	7.37:g.82455955C>T	ENSP00000334319:p.Val4789Met					PCLO_uc003uhv.2_Missense_Mutation_p.V4789M|PCLO_uc003uht.1_Missense_Mutation_p.V231M|PCLO_uc003uhu.1_Missense_Mutation_p.V210M	p.V4789M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			18	14654	-			4651			C2 1.			Missense_Mutation	SNP	ENST00000333891.9	37	c.14365G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502565	0.44455	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.52057	0.68;0.68	5.48	5.48	0.80851	.	.	.	.	.	T	0.66557	0.2801	L	0.55017	1.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.994;0.994;0.996;0.999	T	0.68247	-0.5459	9	0.87932	D	0	.	18.9517	0.92643	0.0:1.0:0.0:0.0	.	4789;4789;210;277	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	M	4789;4789;276	ENSP00000334319:V4789M;ENSP00000388393:V4789M	ENSP00000334319:V4789M	V	-	1	0	PCLO	82293891	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.441000	0.59981	2.587000	0.87381	0.555000	0.69702	GTG		PASS	0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		41	94	41	94	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965803	88965804	+	Nonsense_Mutation	DNP	GC	GC	TT			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:88965803_88965804GC>TT	ENST00000333190.4	+	4	4116_4117	c.3507_3508GC>TT	c.(3505-3510)atGCag>atTTag	p.1169_1170MQ>I*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1169							metal ion binding (GO:0046872)	p.M1169_Q1170>I*(1)|p.Q1170*(1)|p.M1169I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGCAGCATATGCAGAAGCAACT	0.455										HNSCC(36;0.09)																												uc011khi.1																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3505-3507)ATG>ATT|c.(3508-3510)CAG>TAG		zinc finger protein 804B																																				SO:0001587	stop_gained	219578					intracellular	zinc ion binding	g.chr7:88965803G>T|g.chr7:88965804C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	Exception_encountered	7.37:g.88965803_88965804delinsTT	ENSP00000329638:p.M1169_Q1170delinsI*	HNSCC(36;0.09)					p.M1169I|p.Q1170*	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4045|4046	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1169|1170					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000333190.4	37	c.3507G>T|c.3508C>T	CCDS5613.1																																																																																				PASS	0.455	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		39	68|66	39	66	---	---	---	---
CYP3A43	64816	broad.mit.edu	37	7	99457596	99457596	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:99457596G>A	ENST00000354829.2	+	10	1112	c.1009G>A	c.(1009-1011)Gca>Aca	p.A337T	CYP3A43_ENST00000444905.1_Missense_Mutation_p.A84T|CYP3A43_ENST00000342499.4_Missense_Mutation_p.A197T|CYP3A43_ENST00000417625.1_Missense_Mutation_p.A227T|CYP3A43_ENST00000415413.1_Missense_Mutation_p.A126T|CYP3A43_ENST00000222382.5_Missense_Mutation_p.A337T|CYP3A43_ENST00000312017.5_Missense_Mutation_p.A337T|CYP3A43_ENST00000477658.1_3'UTR	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	337			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.A337T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	GGAGATTGACGCAGTTTTACC	0.498																																						uc003urx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1009-1011)GCA>ACA		cytochrome P450, family 3, subfamily A,	Cetirizine(DB00341)|Doxycycline(DB00254)						106.0	100.0	102.0					7																	99457596		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99457596G>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1009G>A	7.37:g.99457596G>A	ENSP00000346887:p.Ala337Thr					CYP3A43_uc003ury.1_Missense_Mutation_p.A337T|CYP3A43_uc003urz.1_Missense_Mutation_p.A337T|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Missense_Mutation_p.A227T|CYP3A43_uc003usb.1_Missense_Mutation_p.A197T	p.A337T	NM_057095	NP_476436	Q9HB55	CP343_HUMAN			10	1112	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		337		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.1009G>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	G	3.674	-0.066881	0.07273	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	2.49	0.589	0.17452	.	1.123250	0.06645	N	0.761752	T	0.47525	0.1450	L	0.28694	0.88	0.09310	N	1	B;B;B;B;B	0.27823	0.02;0.19;0.064;0.045;0.045	B;B;B;B;B	0.23716	0.003;0.048;0.013;0.007;0.007	T	0.25257	-1.0137	10	0.20519	T	0.43	.	2.3123	0.04189	0.2977:0.0:0.4602:0.2421	.	227;197;337;337;337	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	T	337;227;197;84;126;337;337	ENSP00000346887:A337T;ENSP00000416581:A227T;ENSP00000345351:A197T;ENSP00000405557:A84T;ENSP00000401521:A126T;ENSP00000312110:A337T;ENSP00000222382:A337T	ENSP00000222382:A337T	A	+	1	0	CYP3A43	99295532	0.000000	0.05858	0.179000	0.23059	0.610000	0.37248	-0.324000	0.07986	0.133000	0.18654	0.205000	0.17691	GCA		PASS	0.498	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			60	69	60	69	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148801240	148801240	+	Missense_Mutation	SNP	T	T	C	rs202036669		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:148801240T>C	ENST00000378061.2	-	4	1855	c.1723A>G	c.(1723-1725)Atg>Gtg	p.M575V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	575					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M575V(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCCCTGTGCATCCGCTGGTGG	0.597																																						uc003wfj.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1723-1725)ATG>GTG		zinc finger protein 425							60.0	53.0	55.0					7																	148801240		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801240T>C	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1723A>G	7.37:g.148801240T>C	ENSP00000367300:p.Met575Val						p.M575V	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1796	-	Melanoma(164;0.15)		575			C2H2-type 13.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1723A>G	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	T	0.086	-1.174688	0.01646	.	.	ENSG00000204947	ENST00000378061	T	0.06768	3.26	3.42	-0.97	0.10306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.11724	0.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43196	-0.9406	9	0.31617	T	0.26	.	3.9797	0.09489	0.0:0.219:0.341:0.44	.	575	Q6IV72	ZN425_HUMAN	V	575	ENSP00000367300:M575V	ENSP00000367300:M575V	M	-	1	0	ZNF425	148432173	0.000000	0.05858	0.007000	0.13788	0.395000	0.30598	-1.046000	0.03525	-0.266000	0.09339	-0.290000	0.09829	ATG		PASS	0.597	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		29	50	29	50	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149421860	149421860	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:149421860C>T	ENST00000485033.2	+	8	1046	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	KRBA1_ENST00000255992.10_Missense_Mutation_p.P349L|KRBA1_ENST00000319551.8_Missense_Mutation_p.P349L|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	349								p.P349L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCTGTCAGCCTGGCAGGCAG	0.647																																						uc003wfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1045-1047)CCT>CTT		KRAB A domain containing 1							19.0	24.0	23.0					7																	149421860		1926	4108	6034	SO:0001583	missense	84626							g.chr7:149421860C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1046C>T	7.37:g.149421860C>T	ENSP00000420112:p.Pro349Leu					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.P17L	p.P349L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		9	1445	+	Melanoma(164;0.165)|Ovarian(565;0.177)		349					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.1046C>T		.	.	.	.	.	.	.	.	.	.	C	0.037	-1.301750	0.01353	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.20463	2.07;2.11;2.11	3.64	0.144	0.14824	.	0.511879	0.14763	N	0.299843	T	0.06962	0.0177	N	0.02539	-0.55	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.32561	-0.9902	10	0.33940	T	0.23	-2.6478	5.7451	0.18116	0.0:0.5343:0.0:0.4657	.	349;349	E7ENE9;A5PL33	.;KRBA1_HUMAN	L	349	ENSP00000255992:P349L;ENSP00000317165:P349L;ENSP00000420112:P349L	ENSP00000255992:P349L	P	+	2	0	KRBA1	149052793	0.095000	0.21747	0.089000	0.20774	0.046000	0.14306	0.495000	0.22483	0.147000	0.19030	0.655000	0.94253	CCT		PASS	0.647	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		4	0	4	0	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151962204	151962204	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:151962204C>A	ENST00000262189.6	-	8	1321	c.1103G>T	c.(1102-1104)gGa>gTa	p.G368V	KMT2C_ENST00000355193.2_Missense_Mutation_p.G368V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	368					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G368V(2)									CAGGCACATTCCATGATAGTG	0.438																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1102-1104)GGA>GTA		myeloid/lymphoid or mixed-lineage leukemia 3							432.0	387.0	402.0					7																	151962204		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962204C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1103G>T	7.37:g.151962204C>A	ENSP00000262189:p.Gly368Val						p.G368V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1322	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	368			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1103G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036766	0.35893	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98835	-5.17;-5.17	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.41097	U	0.000941	D	0.99042	0.9672	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99675	1.0997	10	0.54805	T	0.06	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	368	Q8NEZ4	MLL3_HUMAN	V	368	ENSP00000262189:G368V;ENSP00000347325:G368V	ENSP00000262189:G368V	G	-	2	0	MLL3	151593137	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.776000	0.85560	2.271000	0.75665	0.557000	0.71058	GGA		PASS	0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			37	497	37	497	---	---	---	---
CNPY1	285888	broad.mit.edu	37	7	155301605	155301605	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr7:155301605C>A	ENST00000321736.5	-	2	290	c.128G>T	c.(127-129)aGa>aTa	p.R43I	AC008060.5_ENST00000415333.1_RNA|CNPY1_ENST00000406197.1_Missense_Mutation_p.R43I	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	43								p.R43I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTTCAAAGGTCTGTAAGCATC	0.358																																						uc003wmc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)AGA>ATA		canopy 1 homolog							67.0	64.0	65.0					7																	155301605		1805	4070	5875	SO:0001583	missense	285888							g.chr7:155301605C>A		CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.128G>T	7.37:g.155301605C>A	ENSP00000317439:p.Arg43Ile						p.R43I	NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	273	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	43					A6NGX3	Missense_Mutation	SNP	ENST00000321736.5	37	c.128G>T	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131995	0.56828	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.35973	1.28;1.28	4.85	3.03	0.35002	.	0.325216	0.34580	N	0.003857	T	0.39835	0.1093	.	.	.	0.42351	D	0.992376	P	0.48998	0.918	P	0.52267	0.694	T	0.21586	-1.0241	9	0.41790	T	0.15	-17.873	4.8804	0.13677	0.0:0.5596:0.0:0.4404	.	43	Q3B7I2	CNPY1_HUMAN	I	43	ENSP00000384514:R43I;ENSP00000317439:R43I	ENSP00000317439:R43I	R	-	2	0	CNPY1	154994366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.208000	0.32345	1.039000	0.40074	0.557000	0.71058	AGA		PASS	0.358	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	XM_001129537		36	6	36	6	---	---	---	---
CSGALNACT1	55790	broad.mit.edu	37	8	19362938	19362938	+	Silent	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr8:19362938G>C	ENST00000454498.2	-	4	1421	c.408C>G	c.(406-408)ggC>ggG	p.G136G	CSGALNACT1_ENST00000544602.1_Silent_p.G136G|CSGALNACT1_ENST00000311540.4_Silent_p.G136G|CSGALNACT1_ENST00000332246.6_Silent_p.G136G|CSGALNACT1_ENST00000522854.1_Silent_p.G136G	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	136					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.G136G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCAGCTTGACGCCAGCATTCA	0.607																																						uc011kyn.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(406-408)GGC>GGG		chondroitin sulfate							69.0	67.0	67.0					8																	19362938		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19362938G>C	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.408C>G	8.37:g.19362938G>C						CSGALNACT1_uc011kyo.1_Silent_p.G136G|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.G135G|CSGALNACT1_uc003wzh.2_RNA	p.G136G	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	4	1472	-			136			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.408C>G	CCDS6010.1																																																																																				PASS	0.607	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		59	11	59	11	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39627070	39627070	+	Silent	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr8:39627070A>G	ENST00000265708.4	-	12	1156	c.1053T>C	c.(1051-1053)ttT>ttC	p.F351F	ADAM2_ENST00000347580.4_Silent_p.F332F|ADAM2_ENST00000379853.2_Silent_p.F225F|ADAM2_ENST00000521880.1_Silent_p.F351F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	351	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F351F(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGCAGTTACTAAAGATCTTCA	0.368																																						uc003xnj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1051-1053)TTT>TTC		ADAM metallopeptidase domain 2 proprotein							84.0	74.0	77.0					8																	39627070		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39627070A>G	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1053T>C	8.37:g.39627070A>G						ADAM2_uc003xnk.2_Silent_p.F332F|ADAM2_uc011lck.1_Silent_p.F351F|ADAM2_uc003xnl.2_Silent_p.F225F	p.F351F	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	12	1128	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	351			Extracellular (Potential).|Peptidase M12B.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1053T>C	CCDS34884.1																																																																																				PASS	0.368	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		27	54	27	54	---	---	---	---
NDUFAF6	137682	broad.mit.edu	37	8	96070046	96070046	+	Missense_Mutation	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr8:96070046G>C	ENST00000396124.4	+	9	906	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	RNU6-1209P_ENST00000363655.1_RNA|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E243Q|NDUFAF6_ENST00000286687.4_Intron|NDUFAF6_ENST00000396113.1_Missense_Mutation_p.E203Q|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.E203Q	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	295					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.E295Q(1)									GGTTTCTCTAGAGGACTTTCT	0.284																																						uc003yhj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)GAG>CAG		hypothetical protein LOC137682 precursor							53.0	51.0	52.0					8																	96070046		1774	4049	5823	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96070046G>C	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.883G>C	8.37:g.96070046G>C	ENSP00000379430:p.Glu295Gln					C8orf38_uc003yhf.2_Missense_Mutation_p.E203Q|C8orf38_uc011lgs.1_Intron|C8orf38_uc003yhi.2_Missense_Mutation_p.E243Q|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Missense_Mutation_p.E203Q	p.E295Q	NM_152416	NP_689629	Q330K2	CH038_HUMAN			9	899	+	Breast(36;3.32e-06)		295					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.883G>C	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933935	0.52866	.	.	ENSG00000156170	ENST00000396113;ENST00000396111;ENST00000542894;ENST00000396124	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.9	5.9	0.94986	Terpenoid synthase (2);	0.069540	0.56097	U	0.000031	T	0.57814	0.2079	N	0.12746	0.255	0.80722	D	1	B;B;B	0.33135	0.1;0.147;0.399	B;B;B	0.35727	0.088;0.135;0.209	T	0.55648	-0.8108	10	0.27082	T	0.32	-33.7722	19.0437	0.93011	0.0:0.0:1.0:0.0	.	295;243;263	Q330K2;Q330K2-2;B4DQ45	CH038_HUMAN;.;.	Q	203;203;243;295	ENSP00000379419:E203Q;ENSP00000379417:E203Q;ENSP00000444515:E243Q;ENSP00000379430:E295Q	ENSP00000379417:E203Q	E	+	1	0	C8orf38	96139222	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.616000	0.74205	2.793000	0.96121	0.563000	0.77884	GAG		PASS	0.284	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		40	98	40	98	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105393524	105393524	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr8:105393524C>A	ENST00000351513.2	-	9	1594	c.1462G>T	c.(1462-1464)Gtg>Ttg	p.V488L	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	488					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.V488L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCACGCTCCACAGGGGTAGGT	0.468																																						uc003yly.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1462-1464)GTG>TTG		dihydropyrimidinase							195.0	168.0	177.0					8																	105393524		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105393524C>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1462G>T	8.37:g.105393524C>A	ENSP00000276651:p.Val488Leu					DPYS_uc010mcf.1_Missense_Mutation_p.V58L	p.V488L	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		9	1591	-			488						Missense_Mutation	SNP	ENST00000351513.2	37	c.1462G>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688953	0.48097	.	.	ENSG00000147647	ENST00000351513	D	0.97404	-4.37	5.85	5.85	0.93711	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96250	0.8777	M	0.71036	2.16	0.47183	D	0.999341	B	0.12013	0.005	B	0.10450	0.005	D	0.93418	0.6774	10	0.87932	D	0	-27.5269	16.8968	0.86102	0.0:1.0:0.0:0.0	.	488	Q14117	DPYS_HUMAN	L	488	ENSP00000276651:V488L	ENSP00000276651:V488L	V	-	1	0	DPYS	105462700	0.968000	0.33430	0.962000	0.40283	0.492000	0.33523	3.773000	0.55333	2.771000	0.95319	0.561000	0.74099	GTG		PASS	0.468	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		163	15	163	15	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116631873	116631874	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr8:116631873_116631874TC>AA	ENST00000220888.5	-	2	571_572	c.412_413GA>TT	c.(412-414)GAt>TTt	p.D138F	TRPS1_ENST00000519674.1_Missense_Mutation_p.D138F|TRPS1_ENST00000520276.1_Missense_Mutation_p.D142F|TRPS1_ENST00000519076.1_Missense_Mutation_p.D92F|TRPS1_ENST00000395715.3_Missense_Mutation_p.D151F			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	138					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D151F(1)|p.D138F(1)|p.D138Y(1)|p.D151V(1)|p.D151Y(1)|p.D138V(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGGCCATATCTTGAGGGTCA	0.53									Langer-Giedion syndrome																													uc003ynz.2																			6	Substitution - Missense(6)		lung(6)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(412-414)GAT>GTT|c.(412-414)GAT>TAT		zinc finger transcription factor TRPS1																																				SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631873T>A|g.chr8:116631874C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.412_413delinsAA	8.37:g.116631873_116631874delinsAA	ENSP00000220888:p.Asp138Phe					TRPS1_uc011lhy.1_Missense_Mutation_p.D142V|TRPS1_uc003yny.2_Missense_Mutation_p.D151V|TRPS1_uc010mcy.2_Missense_Mutation_p.D138V|TRPS1_uc011lhy.1_Missense_Mutation_p.D142Y|TRPS1_uc003yny.2_Missense_Mutation_p.D151Y|TRPS1_uc010mcy.2_Missense_Mutation_p.D138Y	p.D138V|p.D138Y	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	872|871	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		138					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.413A>T|c.412G>T																																																																																					PASS	0.530	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		77|76	142|143	76	142	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164914	139164915	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr8:139164914_139164915GG>TT	ENST00000395297.1	-	13	1973_1974	c.1803_1804CC>AA	c.(1801-1806)caCCaa>caAAaa	p.601_602HQ>QK		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	601								p.H601_Q602>QK(2)|p.Q602K(2)|p.H601Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGGCATTTTGGTGGCTTCCAC	0.455										HNSCC(54;0.14)																												uc003yuy.2																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)	ovary(7)|skin(2)	9						c.(1804-1806)CAA>AAA|c.(1801-1803)CAC>CAA		hypothetical protein LOC51059																																				SO:0001583	missense	51059							g.chr8:139164914G>T|g.chr8:139164915G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1803_1804delinsTT	8.37:g.139164914_139164915delinsTT	ENSP00000378710:p.H601_Q602delinsQK	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.Q503K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.Q164K|FAM135B_uc003yvb.2_Missense_Mutation_p.Q164K|FAM135B_uc003yux.2_Missense_Mutation_p.H502Q|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.H163Q|FAM135B_uc003yvb.2_Missense_Mutation_p.H163Q	p.Q602K|p.H601Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1975|1974	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		602|601					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1804C>A|c.1803C>A	CCDS6375.2																																																																																				PASS	0.455	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		477|480	37|36	477	36	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139165094	139165094	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr8:139165094C>A	ENST00000395297.1	-	13	1794	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	542								p.G542C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCTCTGGACCTGGACTCCTT	0.502										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1624-1626)GGT>TGT		hypothetical protein LOC51059							79.0	78.0	78.0					8																	139165094		1946	4152	6098	SO:0001583	missense	51059							g.chr8:139165094C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1624G>T	8.37:g.139165094C>A	ENSP00000378710:p.Gly542Cys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.G443C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G104C|FAM135B_uc003yvb.2_Missense_Mutation_p.G104C	p.G542C	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1795	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		542					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1624G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473815	0.26423	.	.	ENSG00000147724	ENST00000395297	T	0.15372	2.43	5.45	3.64	0.41730	.	0.425162	0.24120	N	0.041370	T	0.29556	0.0737	L	0.60455	1.87	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.68943	0.961;0.961;0.817	T	0.06058	-1.0848	10	0.40728	T	0.16	-13.9082	4.8664	0.13611	0.183:0.6431:0.0:0.1739	.	542;542;542	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	C	542	ENSP00000378710:G542C	ENSP00000276737:G542C	G	-	1	0	FAM135B	139234276	0.000000	0.05858	0.150000	0.22450	0.865000	0.49528	-0.405000	0.07196	1.451000	0.47736	0.655000	0.94253	GGT		PASS	0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		238	10	238	10	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35295836	35295836	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr9:35295836C>A	ENST00000378495.3	+	8	892	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	UNC13B_ENST00000396787.1_Missense_Mutation_p.Q236K|UNC13B_ENST00000378496.4_Missense_Mutation_p.Q224K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	224					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.Q224K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCGATCGCCACAGCAGCTGCT	0.542																																						uc003zwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(670-672)CAG>AAG		UNC13 (C. elegans)-like							94.0	77.0	83.0					9																	35295836		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35295836C>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.670C>A	9.37:g.35295836C>A	ENSP00000367756:p.Gln224Lys					UNC13B_uc010mkl.1_Missense_Mutation_p.Q224K|UNC13B_uc003zwr.2_Missense_Mutation_p.Q224K	p.Q224K	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		8	962	+	all_epithelial(49;0.212)		224					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.670C>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807555	0.31961	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;T;T	0.82893	-1.66;1.0;1.0	5.8	5.8	0.92144	.	0.800473	0.11503	N	0.557522	D	0.88916	0.6567	L	0.55481	1.735	0.48975	D	0.99973	B;D;B	0.58620	0.361;0.983;0.01	B;P;B	0.61003	0.081;0.882;0.012	D	0.83977	0.0330	10	0.25751	T	0.34	-2.342	20.0716	0.97726	0.0:1.0:0.0:0.0	.	224;224;224	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	K	236;224;224	ENSP00000380006:Q236K;ENSP00000367756:Q224K;ENSP00000367757:Q224K	ENSP00000367756:Q224K	Q	+	1	0	UNC13B	35285836	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	3.823000	0.55715	2.741000	0.93983	0.585000	0.79938	CAG		PASS	0.542	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		22	6	22	6	---	---	---	---
FAM221B	392307	broad.mit.edu	37	9	35825345	35825345	+	Silent	SNP	A	A	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr9:35825345A>T	ENST00000423537.2	-	3	893	c.624T>A	c.(622-624)ccT>ccA	p.P208P	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	208								p.P208P(3)		endometrium(2)|kidney(1)|lung(4)	7						TCTGCCTAGCAGGGAACACTG	0.532																																						uc010mlc.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(622-624)CCT>CCA		hypothetical protein LOC392307							90.0	89.0	89.0					9																	35825345		1996	4171	6167	SO:0001819	synonymous_variant	392307							g.chr9:35825345A>T	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.624T>A	9.37:g.35825345A>T						C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Silent_p.P208P	p.P208P	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		3	909	-	all_epithelial(49;0.161)		208					Q5TCW2	Silent	SNP	ENST00000423537.2	37	c.624T>A	CCDS43799.2																																																																																				PASS	0.532	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		62	26	62	26	---	---	---	---
NIPSNAP3B	55335	broad.mit.edu	37	9	107535353	107535353	+	Nonstop_Mutation	SNP	A	A	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr9:107535353A>T	ENST00000374762.3	+	6	814	c.743A>T	c.(742-744)tAg>tTg	p.*248L	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	0								p.*248L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						CCATTGAAATAGTTTTCTACT	0.363																																						uc004bci.2																			1	Nonstop extension(1)		lung(1)	pancreas(1)|skin(1)	2						c.(742-744)TAG>TTG		nipsnap homolog 3B							87.0	81.0	83.0					9																	107535353		2203	4300	6503	SO:0001578	stop_lost	55335							g.chr9:107535353A>T	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.743A>T	9.37:g.107535353A>T	ENSP00000363894:p.*248Leuext*18					NIPSNAP3B_uc004bcj.1_RNA|LOC286367_uc004bck.3_5'Flank	p.*248L	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN			6	814	+			248					Q5VX30|Q9NUM2	Nonstop_Mutation	SNP	ENST00000374762.3	37	c.743A>T	CCDS6761.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190731	0.58017	.	.	ENSG00000165028	ENST00000374762	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0657	0.59032	1.0:0.0:0.0:0.0	.	.	.	.	L	248	.	.	X	+	2	0	NIPSNAP3B	106575174	1.000000	0.71417	0.987000	0.45799	0.745000	0.42441	6.332000	0.72934	2.045000	0.60652	0.528000	0.53228	TAG		PASS	0.363	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376		57	14	57	14	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107560766	107560766	+	Missense_Mutation	SNP	T	T	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr9:107560766T>A	ENST00000374736.3	-	37	5451	c.5057A>T	c.(5056-5058)cAc>cTc	p.H1686L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1686					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.H1686L(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)	GAACTGCAGGTGTTTTGCTTT	0.488																																						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.(5056-5058)CAC>CTC		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						160.0	139.0	146.0					9																	107560766		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.chr9:107560766T>A	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.5057A>T	9.37:g.107560766T>A	ENSP00000363868:p.His1686Leu						p.H1686L	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	37	5370	-			1686					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5057A>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562784	0.86335	.	.	ENSG00000165029	ENST00000374736	D	0.87966	-2.32	5.39	4.22	0.49857	.	0.044316	0.85682	D	0.000000	D	0.91412	0.7290	M	0.64080	1.96	0.80722	D	1	D	0.58620	0.983	D	0.69307	0.963	D	0.91570	0.5271	10	0.87932	D	0	.	12.6486	0.56748	0.0:0.0:0.1382:0.8618	.	1686	O95477	ABCA1_HUMAN	L	1686	ENSP00000363868:H1686L	ENSP00000363868:H1686L	H	-	2	0	ABCA1	106600587	1.000000	0.71417	0.940000	0.37924	0.974000	0.67602	7.950000	0.87804	0.959000	0.37980	0.533000	0.62120	CAC		PASS	0.488	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		84	13	84	13	---	---	---	---
WDR31	114987	broad.mit.edu	37	9	116082637	116082637	+	Splice_Site	SNP	C	C	G	rs148709910		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr9:116082637C>G	ENST00000374193.4	-	9	1026	c.780G>C	c.(778-780)acG>acC	p.T260T	WDR31_ENST00000341761.4_Splice_Site_p.T259T|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Splice_Site_p.T135T	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	260								p.T260T(1)		NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AGTCTCCTACCGTGGCTTCAC	0.517																																						uc004bhe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(778-780)ACG>ACC		WD repeat domain 31 isoform 1							112.0	99.0	104.0					9																	116082637		2203	4300	6503	SO:0001630	splice_region_variant	114987							g.chr9:116082637C>G	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.780+1G>C	9.37:g.116082637C>G						WDR31_uc004bhc.2_Silent_p.T259T|WDR31_uc004bhd.2_Silent_p.T135T|WDR31_uc004bhf.2_RNA	p.T260T	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN			9	1032	-			260					Q5W0T9|Q96EG8	Silent	SNP	ENST00000374193.4	37	c.780G>C	CCDS35110.1																																																																																				PASS	0.517	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241	Silent	75	19	75	19	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123903707	123903707	+	Silent	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr9:123903707G>A	ENST00000373855.1	+	18	2792	c.2532G>A	c.(2530-2532)caG>caA	p.Q844Q	CNTRL_ENST00000238341.5_Silent_p.Q844Q|CNTRL_ENST00000373847.1_Silent_p.Q292Q|CNTRL_ENST00000373850.1_Silent_p.Q292Q			Q7Z7A1	CNTRL_HUMAN	centriolin	844					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.Q844Q(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTGATTTACAGAAACAATTCA	0.393																																						uc004bkx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2530-2532)CAG>CAA		centrosomal protein 110kDa							89.0	86.0	87.0					9																	123903707		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123903707G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2532G>A	9.37:g.123903707G>A						CEP110_uc004bky.1_Silent_p.Q448Q|CEP110_uc004bkz.1_Silent_p.Q292Q|CEP110_uc004bla.1_Silent_p.Q292Q|CEP110_uc010mvo.1_5'Flank	p.Q844Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			16	2563	+			844					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.2532G>A	CCDS35118.1																																																																																				PASS	0.393	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		76	10	76	10	---	---	---	---
OR1J1	347168	broad.mit.edu	37	9	125240093	125240093	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr9:125240093G>A	ENST00000259357.2	-	1	142	c.113C>T	c.(112-114)aCg>aTg	p.T38M	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38M(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CCCCAGCACCGTGGTCAGGTA	0.597																																						uc011lyu.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(112-114)ACG>ATG		olfactory receptor, family 1, subfamily J,							178.0	148.0	158.0					9																	125240093		2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125240093G>A	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.113C>T	9.37:g.125240093G>A	ENSP00000259357:p.Thr38Met					OR1J2_uc004bmj.1_Intron	p.T38M	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN			1	113	-			38			Helical; Name=1; (Potential).		A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.113C>T	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473770	0.63737	.	.	ENSG00000136834	ENST00000259357	T	0.00504	6.94	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000012	T	0.02610	0.0079	H	0.95114	3.625	0.31607	N	0.652028	D	0.89917	1.0	D	0.78314	0.991	T	0.00492	-1.1707	10	0.72032	D	0.01	.	10.1475	0.42774	0.0941:0.0:0.9059:0.0	.	38	Q8NGS3	OR1J1_HUMAN	M	38	ENSP00000259357:T38M	ENSP00000259357:T38M	T	-	2	0	OR1J1	124279914	0.708000	0.27876	0.949000	0.38748	0.980000	0.70556	2.325000	0.43840	2.498000	0.84270	0.531000	0.56144	ACG		PASS	0.597	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			11	186	11	186	---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130106616	130106616	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr9:130106616C>A	ENST00000373387.4	+	15	1706	c.1354C>A	c.(1354-1356)Cag>Aag	p.Q452K	GARNL3_ENST00000435213.2_Missense_Mutation_p.Q430K|GARNL3_ENST00000314904.5_Missense_Mutation_p.Q452K	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	452					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.Q434K(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TAGAATAGGGCAGGTGGGTTT	0.483																																						uc011mae.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1354-1356)CAG>AAG		GTPase activating Rap/RanGAP domain-like 3							101.0	117.0	111.0					9																	130106616		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130106616C>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1354C>A	9.37:g.130106616C>A	ENSP00000362485:p.Gln452Lys					GARNL3_uc011mad.1_Missense_Mutation_p.Q430K|GARNL3_uc004bqt.1_Missense_Mutation_p.Q233K	p.Q452K	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			15	1755	+			452					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1354C>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	33	5.245907	0.95272	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.88975	-2.43;-2.38;-2.45	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.93923	0.8055	M	0.72894	2.215	0.80722	D	1	B;B;D	0.69078	0.215;0.041;0.997	B;B;D	0.77004	0.06;0.038;0.989	D	0.93291	0.6668	9	.	.	.	.	18.1276	0.89591	0.0:1.0:0.0:0.0	.	452;430;393	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	K	430;452;452	ENSP00000396205:Q430K;ENSP00000313970:Q452K;ENSP00000362485:Q452K	.	Q	+	1	0	GARNL3	129146437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.383000	0.79741	2.615000	0.88500	0.563000	0.77884	CAG		PASS	0.483	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		141	26	141	26	---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131337068	131337068	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr9:131337068G>T	ENST00000372731.4	+	4	588	c.478G>T	c.(478-480)Gac>Tac	p.D160Y	SPTAN1_ENST00000372739.3_Missense_Mutation_p.D160Y|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D160Y	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	160					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D160Y(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGAATGTGAGGACGTGATGGA	0.473																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|pancreas(1)	10						c.(478-480)GAC>TAC		spectrin, alpha, non-erythrocytic 1							169.0	166.0	167.0					9																	131337068		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131337068G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.478G>T	9.37:g.131337068G>T	ENSP00000361816:p.Asp160Tyr					SPTAN1_uc011mbg.1_Missense_Mutation_p.D160Y|SPTAN1_uc011mbh.1_Missense_Mutation_p.D172Y|SPTAN1_uc004bvm.3_Missense_Mutation_p.D160Y|SPTAN1_uc004bvn.3_Missense_Mutation_p.D160Y	p.D160Y	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			4	591	+			160			Spectrin 3.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.478G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765819	0.90020	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.56103	0.48;0.48;0.48	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	M	0.92691	3.335	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.997;0.97;0.999	D;D;D;P;D	0.83275	0.995;0.996;0.956;0.824;0.996	D	0.83981	0.0332	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	160;160;160;160;160	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	Y	160	ENSP00000350882:D160Y;ENSP00000361816:D160Y;ENSP00000361824:D160Y	ENSP00000350882:D160Y	D	+	1	0	SPTAN1	130376889	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.430000	0.97488	2.894000	0.99253	0.655000	0.94253	GAC		PASS	0.473	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		56	7	56	7	---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1230902	1230902	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr10:1230902G>T	ENST00000381312.1	-	9	2267	c.1942C>A	c.(1942-1944)Ctg>Atg	p.L648M	ADARB2_ENST00000381305.1_Missense_Mutation_p.L50M|ADARB2_ENST00000381310.3_Missense_Mutation_p.L157M	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	648	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.L648M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ATAATCTCCAGGTCCGCGCTG	0.687																																						uc009xhq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(1942-1944)CTG>ATG		adenosine deaminase, RNA-specific, B2							43.0	41.0	41.0					10																	1230902		2203	4299	6502	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1230902G>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1942C>A	10.37:g.1230902G>T	ENSP00000370713:p.Leu648Met					ADARB2_uc009xhp.2_Missense_Mutation_p.L32M|ADARB2_uc001igl.3_Missense_Mutation_p.L10M|ADARB2_uc001igm.3_Missense_Mutation_p.L157M	p.L648M	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	9	2316	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	648			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1942C>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186691	0.38609	.	.	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.94497	-3.44;-3.44;-3.44	4.81	2.93	0.34026	Adenosine deaminase/editase (3);	0.220531	0.40064	N	0.001197	D	0.94781	0.8315	M	0.67700	2.07	0.46749	D	0.999182	B;B;P	0.46987	0.255;0.155;0.888	B;B;P	0.50934	0.213;0.2;0.654	D	0.92922	0.6356	10	0.41790	T	0.15	-12.9852	14.4596	0.67440	0.0:0.3261:0.6739:0.0	.	648;50;157	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	M	648;157;50	ENSP00000370713:L648M;ENSP00000370711:L157M;ENSP00000370706:L50M	ENSP00000370706:L50M	L	-	1	2	ADARB2	1220902	1.000000	0.71417	0.970000	0.41538	0.060000	0.15804	2.535000	0.45685	0.435000	0.26365	0.561000	0.74099	CTG		PASS	0.687	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		25	8	25	8	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27703066	27703066	+	Silent	SNP	C	C	G	rs543375628		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr10:27703066C>G	ENST00000438700.3	-	1	231	c.114G>C	c.(112-114)tcG>tcC	p.S38S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	38					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.S38S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCTTGCCTTCCGACTCCGATT	0.692																																						uc001itu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(112-114)TCG>TCC		patched domain containing 3							60.0	75.0	70.0					10																	27703066		2202	4300	6502	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27703066C>G	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.114G>C	10.37:g.27703066C>G							p.S38S	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	232	-			38					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.114G>C	CCDS31173.1																																																																																				PASS	0.692	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		98	129	98	129	---	---	---	---
RASSF4	83937	broad.mit.edu	37	10	45486409	45486409	+	Silent	SNP	A	A	G	rs371607990		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr10:45486409A>G	ENST00000340258.5	+	9	812	c.699A>G	c.(697-699)ttA>ttG	p.L233L	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Silent_p.L242L	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.L233L(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGACAAAATTAAAAGACTGCG	0.468													A|||	1	0.000199681	0.0	0.0	5008	,	,		18890	0.001		0.0	False		,,,				2504	0.0					uc001jbo.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(697-699)TTA>TTG		Ras association domain family 4							75.0	86.0	82.0					10																	45486409		2203	4300	6503	SO:0001819	synonymous_variant	83937				cell cycle|signal transduction		protein binding	g.chr10:45486409A>G	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.699A>G	10.37:g.45486409A>G						RASSF4_uc001jbp.2_Silent_p.L264L|RASSF4_uc009xmn.2_Silent_p.L163L|RASSF4_uc001jbq.2_Silent_p.L130L|RASSF4_uc001jbt.2_Silent_p.L190L	p.L233L	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN			9	833	+			233			Ras-associating.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000340258.5	37	c.699A>G	CCDS7208.1																																																																																				PASS	0.468	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		54	21	54	21	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49381129	49381129	+	Missense_Mutation	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr10:49381129C>G	ENST00000374201.3	-	25	3385	c.3083G>C	c.(3082-3084)aGa>aCa	p.R1028T	FRMPD2_ENST00000305531.3_Missense_Mutation_p.R1003T|FRMPD2_ENST00000474573.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.R996T|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1028	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.R1028T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TAAGACCAGTCTTGCAACCTA	0.473																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(3082-3084)AGA>ACA		FERM and PDZ domain containing 2 isoform 3							2.0	2.0	2.0					10																	49381129		1229	2715	3944	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49381129C>G	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3083G>C	10.37:g.49381129C>G	ENSP00000363317:p.Arg1028Thr					FRMPD2_uc001jgh.2_Missense_Mutation_p.R996T|FRMPD2_uc001jgj.2_Missense_Mutation_p.R1006T|FRMPD2L1_uc001jgf.2_Missense_Mutation_p.R39T|FRMPD2_uc001jgg.2_5'UTR|FRMPD2_uc001jgk.2_5'UTR	p.R1028T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	25	3190	-			1028			PDZ 2.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.3083G>C	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.191486	0.01607	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.24908	1.83;1.83;1.83	4.31	2.4	0.29515	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.13415	0.0325	N	0.10874	0.06	0.09310	N	1	B;B;B;B	0.28933	0.228;0.036;0.228;0.012	B;B;B;B	0.30855	0.121;0.035;0.083;0.012	T	0.27971	-1.0058	9	0.36615	T	0.2	.	7.0653	0.25149	0.0:0.7039:0.0:0.2961	.	1003;1028;996;39	Q68DX3-2;Q68DX3;F8WCT2;Q68DX3-4	.;FRPD2_HUMAN;.;.	T	1028;1003;996	ENSP00000363317:R1028T;ENSP00000307079:R1003T;ENSP00000384339:R996T	ENSP00000307079:R1003T	R	-	2	0	FRMPD2	49051135	0.140000	0.22579	0.008000	0.14137	0.096000	0.18686	0.383000	0.20651	0.357000	0.24183	0.455000	0.32223	AGA		PASS	0.473	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		8	6	8	6	---	---	---	---
GLUD1	2746	broad.mit.edu	37	10	88835729	88835729	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr10:88835729T>C	ENST00000277865.4	-	3	674	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	GLUD1_ENST00000537649.1_Missense_Mutation_p.Y26C|GLUD1_ENST00000544149.1_Missense_Mutation_p.Y60C	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	193					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)	p.Y193C(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ACTTACAGTATAGTTCTTGGG	0.373																																						uc001keh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)TAT>TGT		glutamate dehydrogenase 1 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						158.0	157.0	157.0					10																	88835729		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88835729T>C	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.578A>G	10.37:g.88835729T>C	ENSP00000277865:p.Tyr193Cys					GLUD1_uc001keg.2_Missense_Mutation_p.Y26C|GLUD1_uc010qmp.1_Missense_Mutation_p.Y60C	p.Y193C	NM_005271	NP_005262	P00367	DHE3_HUMAN			3	675	-			193					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.578A>G	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327847	0.41197	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000513510;ENST00000544149	D;D;D	0.96745	-4.11;-4.06;-4.06	5.44	4.3	0.51218	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.98109	1.0419	10	0.66056	D	0.02	.	11.1542	0.48478	0.0:0.0732:0.0:0.9268	.	60;193	B4DGN5;P00367	.;DHE3_HUMAN	C	193;150;26;125;60	ENSP00000277865:Y193C;ENSP00000439291:Y26C;ENSP00000444732:Y60C	ENSP00000277865:Y193C	Y	-	2	0	GLUD1	88825709	1.000000	0.71417	0.752000	0.31206	0.165000	0.22458	7.679000	0.84048	0.904000	0.36572	-0.532000	0.04303	TAT		PASS	0.373	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		73	13	73	13	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1253773	1253773	+	Splice_Site	SNP	C	C	A	rs147470207	byFrequency	TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:1253773C>A	ENST00000529681.1	+	16	1995	c.1937C>A	c.(1936-1938)tCg>tAg	p.S646*	MUC5B_ENST00000447027.1_Splice_Site_p.S649*	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	646					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.S646*(1)|p.S649*(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)		CCCTTCCACTCGGTGAGAGGC	0.687																																						uc009ycr.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(3913-3915)TCG>TAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							34.0	37.0	36.0					11																	1253773		2053	4173	6226	SO:0001630	splice_region_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1253773C>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.1938+1C>A	11.37:g.1253773C>A						MUC5B_uc009yct.1_Nonsense_Mutation_p.S646*|MUC5B_uc001ltb.2_Nonsense_Mutation_p.S649*|MUC5B_uc001lta.2_Nonsense_Mutation_p.S314*	p.S1305*	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)	32	4040	+		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)	646					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	ENST00000529681.1	37	c.3914C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	38	6.997080	0.97990	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.32	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.9183	0.24371	0.3959:0.5111:0.0:0.093	.	.	.	.	X	646;649;647;682	.	ENSP00000343037:S647X	S	+	2	0	MUC5B	1210349	0.000000	0.05858	0.995000	0.50966	0.521000	0.34408	-1.082000	0.03400	0.804000	0.34136	0.462000	0.41574	TCG		PASS	0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	Nonsense_Mutation	8	3	8	3	---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967983	4967983	+	Silent	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:4967983G>T	ENST00000380373.2	-	1	373	c.348C>A	c.(346-348)gtC>gtA	p.V116V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V116V(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATCAGGAGGACTGAGGACT	0.438																																						uc010qys.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(346-348)GTC>GTA		olfactory receptor, family 51, subfamily A,							194.0	194.0	194.0					11																	4967983		2191	4286	6477	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967983G>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.348C>A	11.37:g.4967983G>T							p.V116V	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	348	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	116			Helical; Name=3; (Potential).			Silent	SNP	ENST00000380373.2	37	c.348C>A	CCDS31367.1																																																																																				PASS	0.438	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		144	118	144	118	---	---	---	---
LDHAL6A	160287	broad.mit.edu	37	11	18497181	18497181	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:18497181C>T	ENST00000280706.2	+	4	1384	c.587C>T	c.(586-588)tCa>tTa	p.S196L	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.S196L	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	196					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)	p.S196L(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13						CATGGCGACTCAAGTGGTAAG	0.453																																						uc001mop.1																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)TCA>TTA		lactate dehydrogenase A-like 6A	NADH(DB00157)						111.0	97.0	102.0					11																	18497181		2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18497181C>T	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.587C>T	11.37:g.18497181C>T	ENSP00000280706:p.Ser196Leu					LDHAL6A_uc001moq.2_Missense_Mutation_p.S196L	p.S196L	NM_001144071	NP_001137543	Q6ZMR3	LDH6A_HUMAN			5	848	+			196					D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.587C>T	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438659	0.62955	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	T;T	0.67698	-0.28;-0.28	4.29	-0.352	0.12598	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.184386	0.36303	U	0.002662	D	0.83381	0.5242	H	0.95982	3.75	0.50039	D	0.999848	D	0.71674	0.998	D	0.68353	0.957	T	0.82794	-0.0281	10	0.87932	D	0	.	8.5791	0.33617	0.0:0.4741:0.437:0.0889	.	196	Q6ZMR3	LDH6A_HUMAN	L	196	ENSP00000379516:S196L;ENSP00000280706:S196L	ENSP00000280706:S196L	S	+	2	0	LDHAL6A	18453757	0.990000	0.36364	0.800000	0.32199	0.618000	0.37518	2.574000	0.46016	-0.045000	0.13468	0.491000	0.48974	TCA		PASS	0.453	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		273	77	273	77	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31113001	31113001	+	Missense_Mutation	SNP	T	T	C	rs371778122		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:31113001T>C	ENST00000597505.1	-	15	2175	c.2176A>G	c.(2176-2178)Atc>Gtc	p.I726V	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.I345V(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)					TTGACTCTGATAGGATGACCA	0.393																																						uc009yjk.1																			1	Substitution - Missense(1)		lung(1)								c.(520-522)ATC>GTC		RecName: Full=Doublecortin domain-containing protein 5;		T		0,3732		0,0,1866	65.0	59.0	61.0			-0.4	0.9	11		61	1,8229		0,1,4114	no	intron	LOC100508736	XM_003403451.1		0,1,5980	CC,CT,TT		0.0122,0.0,0.0084			31113001	1,11961	1866	4115	5981	SO:0001583	missense	0							g.chr11:31113001T>C	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.2176A>G	11.37:g.31113001T>C	ENSP00000472625:p.Ile726Val					uc009yjl.1_Missense_Mutation_p.I102V|DCDC1_uc001msu.1_Missense_Mutation_p.I345V	p.I174V							5	589	-								A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.520A>G																																																																																					PASS	0.393	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		11	12	11	12	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49179538	49179538	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:49179538T>C	ENST00000256999.2	-	14	1758	c.1498A>G	c.(1498-1500)Aaa>Gaa	p.K500E	FOLH1_ENST00000356696.3_Missense_Mutation_p.K500E|FOLH1_ENST00000533034.1_Missense_Mutation_p.K485E|FOLH1_ENST00000343844.4_Missense_Mutation_p.K192E|FOLH1_ENST00000340334.7_Missense_Mutation_p.K485E	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	500	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.K500E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GAAGGACTTTTTTTAGTCCAA	0.353																																						uc001ngy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1498-1500)AAA>GAA		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						63.0	65.0	64.0					11																	49179538		2201	4297	6498	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49179538T>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1498A>G	11.37:g.49179538T>C	ENSP00000256999:p.Lys500Glu					FOLH1_uc001ngz.2_Missense_Mutation_p.K500E|FOLH1_uc009yly.2_Missense_Mutation_p.K485E|FOLH1_uc009ylz.2_Missense_Mutation_p.K485E|FOLH1_uc009yma.2_Missense_Mutation_p.K192E	p.K500E	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			14	1759	-			500			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1498A>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460600	0.63513	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	3.5	3.5	0.40072	.	0.000000	0.56097	D	0.000022	T	0.50222	0.1603	L	0.58669	1.825	0.42100	D	0.991334	D;D;P;B	0.60575	0.968;0.988;0.936;0.268	P;P;P;B	0.56700	0.769;0.804;0.596;0.223	T	0.50083	-0.8869	10	0.41790	T	0.15	.	10.2448	0.43334	0.0:0.0:0.0:1.0	.	485;485;500;500	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	E	500;500;485;192;485;503	ENSP00000256999:K500E;ENSP00000349129:K500E;ENSP00000344131:K485E;ENSP00000344086:K192E;ENSP00000431463:K485E	ENSP00000256999:K500E	K	-	1	0	FOLH1	49136114	1.000000	0.71417	0.789000	0.31954	0.711000	0.40976	4.276000	0.58933	1.592000	0.50018	0.338000	0.21704	AAA		PASS	0.353	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		73	80	73	80	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563598	55563598	+	Silent	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:55563598G>T	ENST00000335605.1	+	1	567	c.567G>T	c.(565-567)gtG>gtT	p.V189V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V189V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCATCTCTGTGTCTGGCTCTG	0.448																																						uc010rim.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(565-567)GTG>GTT		olfactory receptor, family 5, subfamily D,							216.0	211.0	213.0					11																	55563598		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563598G>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.567G>T	11.37:g.55563598G>T							p.V189V	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	567	+		all_epithelial(135;0.196)	189			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.567G>T	CCDS31508.1																																																																																				PASS	0.448	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		159	209	159	209	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55655539	55655539	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:55655539G>T	ENST00000449290.2	+	4	631	c.539G>T	c.(538-540)aGa>aTa	p.R180I	TRIM51_ENST00000244891.3_Missense_Mutation_p.R37I	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	180						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R21I(1)|p.R180I(1)									GAAGCAATCAGAGCTGAATAT	0.393																																						uc010rip.1																			2	Substitution - Missense(2)		lung(2)		0						c.(538-540)AGA>ATA		SPRY domain containing 5							24.0	25.0	24.0					11																	55655539		2200	4287	6487	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55655539G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.539G>T	11.37:g.55655539G>T	ENSP00000395086:p.Arg180Ile					SPRYD5_uc010riq.1_Missense_Mutation_p.R37I	p.R180I	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			4	631	+		all_epithelial(135;0.226)	180					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.539G>T		.	.	.	.	.	.	.	.	.	.	.	2.889	-0.230067	0.06022	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04970	3.52;3.52	.	.	.	.	.	.	.	.	T	0.08626	0.0214	M	0.80508	2.5	0.09310	N	1	B	0.31193	0.312	B	0.29524	0.103	T	0.22173	-1.0224	7	0.42905	T	0.14	.	.	.	.	.	180	Q9BSJ1	SPRY5_HUMAN	I	180;37	ENSP00000395086:R180I;ENSP00000244891:R37I	ENSP00000244891:R37I	R	+	2	0	SPRYD5	55412115	0.061000	0.20836	0.004000	0.12327	0.512000	0.34134	0.088000	0.14979	-0.353000	0.08224	0.152000	0.16155	AGA		PASS	0.393	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		27	41	27	41	---	---	---	---
OR8K5	219453	broad.mit.edu	37	11	55926908	55926908	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:55926908C>T	ENST00000313447.1	-	1	885	c.886G>A	c.(886-888)Gag>Aag	p.E296K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E296K(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TTTTTCACCTCTTCGTTTCTT	0.289																																						uc010rja.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(886-888)GAG>AAG		olfactory receptor, family 8, subfamily K,							69.0	66.0	67.0					11																	55926908		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926908C>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.886G>A	11.37:g.55926908C>T	ENSP00000323853:p.Glu296Lys						p.E296K	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	886	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	296			Cytoplasmic (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.886G>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356819	0.61293	.	.	ENSG00000181752	ENST00000313447	T	0.38077	1.16	3.88	3.88	0.44766	.	0.000000	0.56097	D	0.000023	T	0.49525	0.1562	M	0.88704	2.975	0.33401	D	0.577399	P	0.50528	0.936	P	0.44732	0.459	T	0.73892	-0.3839	10	0.87932	D	0	.	14.3095	0.66407	0.0:1.0:0.0:0.0	.	296	Q8NH50	OR8K5_HUMAN	K	296	ENSP00000323853:E296K	ENSP00000323853:E296K	E	-	1	0	OR8K5	55683484	0.853000	0.29707	1.000000	0.80357	0.633000	0.38033	1.195000	0.32186	2.154000	0.67381	0.465000	0.42564	GAG		PASS	0.289	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		31	53	31	53	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56019795	56019795	+	Silent	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:56019795C>A	ENST00000303059.3	+	1	120	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T40T(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CTGAAGTCACCATGTTTATAT	0.348																																						uc010rjd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(118-120)ACC>ACA		olfactory receptor, family 5, subfamily T,							108.0	107.0	107.0					11																	56019795		2201	4296	6497	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019795C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.120C>A	11.37:g.56019795C>A							p.T40T	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	120	+	Esophageal squamous(21;0.00448)		40			Extracellular (Potential).		Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.120C>A	CCDS31524.1																																																																																				PASS	0.348	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		59	90	59	90	---	---	---	---
OR9Q2	219957	broad.mit.edu	37	11	57958903	57958904	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:57958903_57958904CC>AA	ENST00000311591.3	+	1	998_999	c.941_942CC>AA	c.(940-942)cCC>cAA	p.P314Q		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P314Q(1)|p.P314H(1)|p.P314P(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCTAGAAGACCCTAAATGGACC	0.431																																						uc010rka.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(940-942)CCC>CAC|c.(940-942)CCC>CCA		olfactory receptor, family 9, subfamily Q,																																				SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958903C>A|g.chr11:57958904C>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	Exception_encountered	11.37:g.57958903_57958904delinsAA	ENSP00000308714:p.Pro314Gln						p.P314H|p.P314P	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	941|942	+		Breast(21;0.0589)	314			Cytoplasmic (Potential).			Missense_Mutation|Silent	SNP	ENST00000311591.3	37	c.941C>A|c.942C>A	CCDS31544.1																																																																																				PASS	0.431	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		13	51|49	13	49	---	---	---	---
BEST1	7439	broad.mit.edu	37	11	61730083	61730083	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:61730083C>A	ENST00000378043.4	+	10	2100	c.1457C>A	c.(1456-1458)cCg>cAg	p.P486Q	BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Missense_Mutation_p.P114Q|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.P426Q|BEST1_ENST00000378042.3_Missense_Mutation_p.P399Q|FTH1_ENST00000529191.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	486					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.P426Q(1)|p.P486Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CCATCAGCGCCGTCAAAGCTT	0.522																																						uc001nss.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1456-1458)CCG>CAG		bestrophin 1 isoform 1							78.0	70.0	73.0					11																	61730083		2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61730083C>A	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1457C>A	11.37:g.61730083C>A	ENSP00000367282:p.Pro486Gln					BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Missense_Mutation_p.P114Q|BEST1_uc001nsr.2_Missense_Mutation_p.P426Q|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.P426Q|BEST1_uc001nst.2_Missense_Mutation_p.P399Q|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Missense_Mutation_p.P380Q	p.P486Q	NM_004183	NP_004174	O76090	BEST1_HUMAN			10	2037	+			486			Cytoplasmic (Potential).		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.1457C>A	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012689	0.35511	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.96856	-4.15;-3.92;-0.21;-4.15	4.96	0.505	0.16953	.	0.672540	0.13144	N	0.410405	D	0.89040	0.6602	L	0.32530	0.975	0.18873	N	0.999986	B;B;P	0.38992	0.397;0.069;0.653	B;B;B	0.28709	0.093;0.027;0.093	T	0.81415	-0.0943	10	0.33141	T	0.24	-2.1655	3.0518	0.06172	0.2676:0.4596:0.1254:0.1475	.	399;486;426	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	Q	486;399;114;426	ENSP00000367282:P486Q;ENSP00000367281:P399Q;ENSP00000301774:P114Q;ENSP00000399709:P426Q	ENSP00000301774:P114Q	P	+	2	0	BEST1	61486659	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.118000	0.15605	-0.022000	0.13986	-0.797000	0.03246	CCG		PASS	0.522	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		54	38	54	38	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66252646	66252646	+	Silent	SNP	G	G	A	rs146040863	byFrequency	TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:66252646G>A	ENST00000360510.2	+	3	338	c.273G>A	c.(271-273)gcG>gcA	p.A91A	DPP3_ENST00000530165.1_Intron|DPP3_ENST00000531863.1_Silent_p.A111A|DPP3_ENST00000453114.1_Silent_p.A91A|DPP3_ENST00000532677.1_Silent_p.A110A|DPP3_ENST00000541961.1_Silent_p.A91A			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	91					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A91A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCCCTCAGGCGTTCCTGGTCT	0.587													G|||	25	0.00499201	0.0182	0.0	5008	,	,		16378	0.0		0.001	False		,,,				2504	0.0					uc001oig.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(271-273)GCG>GCA		dipeptidyl peptidase III		G	,	55,4345	54.2+/-90.2	0,55,2145	91.0	76.0	81.0		273,273	-10.0	0.9	11	dbSNP_134	81	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	DPP3	NM_005700.3,NM_130443.2	,	0,55,6440	AA,AG,GG		0.0,1.25,0.4234	,	91/738,91/738	66252646	55,12935	2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66252646G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.273G>A	11.37:g.66252646G>A						DPP3_uc001oif.1_Silent_p.A91A|DPP3_uc010rpe.1_Intron	p.A91A	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			3	335	+			91					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.273G>A	CCDS8141.1																																																																																				PASS	0.587	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			38	26	38	26	---	---	---	---
DGAT2	84649	broad.mit.edu	37	11	75509352	75509352	+	Missense_Mutation	SNP	G	G	T	rs140793537	byFrequency	TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:75509352G>T	ENST00000228027.7	+	7	1150	c.890G>T	c.(889-891)cGa>cTa	p.R297L	RP11-535A19.1_ENST00000534354.1_RNA|DGAT2_ENST00000376262.3_Missense_Mutation_p.R254L	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	297					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.R297L(1)		endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					TCCTGGGGCCGATGGGTCCAG	0.572																																					Melanoma(35;811 1096 8354 24009 39363)	uc001oxa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)CGA>CTA		diacylglycerol O-acyltransferase 2							144.0	132.0	136.0					11																	75509352		2200	4293	6493	SO:0001583	missense	84649				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr11:75509352G>T		CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.890G>T	11.37:g.75509352G>T	ENSP00000228027:p.Arg297Leu					DGAT2_uc001oxb.2_Missense_Mutation_p.R254L	p.R297L	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN			7	1149	+	Ovarian(111;0.103)		297			Cytoplasmic (Potential).		A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	c.890G>T	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607161	0.87157	.	.	ENSG00000062282	ENST00000228027;ENST00000376262;ENST00000525612	T;T	0.24908	1.83;1.83	5.59	3.65	0.41850	.	0.183435	0.45126	N	0.000388	T	0.45955	0.1368	M	0.78916	2.43	0.80722	D	1	P;D	0.65815	0.952;0.995	P;D	0.65233	0.744;0.933	T	0.44375	-0.9332	10	0.52906	T	0.07	-7.8152	9.2512	0.37555	0.0771:0.0:0.7758:0.1471	.	254;297	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	L	297;254;251	ENSP00000228027:R297L;ENSP00000365438:R254L	ENSP00000228027:R297L	R	+	2	0	DGAT2	75187000	1.000000	0.71417	0.967000	0.41034	0.998000	0.95712	6.248000	0.72418	1.453000	0.47775	0.655000	0.94253	CGA		PASS	0.572	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		61	171	61	171	---	---	---	---
TRIM49	57093	broad.mit.edu	37	11	89531515	89531515	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:89531515C>A	ENST00000329758.1	-	8	1470	c.1142G>T	c.(1141-1143)gGg>gTg	p.G381V	TRIM49_ENST00000532501.2_Missense_Mutation_p.G304V	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G381V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CTTAACACACCCAAGAAGAAA	0.438																																						uc001pdb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1141-1143)GGG>GTG		ring finger protein 18							88.0	95.0	93.0					11																	89531515		2109	4274	6383	SO:0001583	missense	57093					intracellular	zinc ion binding	g.chr11:89531515C>A	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1142G>T	11.37:g.89531515C>A	ENSP00000327604:p.Gly381Val						p.G381V	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			8	1471	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	381			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	c.1142G>T	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	C	5.256	0.232741	0.09969	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.69175	-0.38	1.04	-2.09	0.07232	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.35068	0.0919	N	0.02830	-0.485	0.09310	N	1	B	0.18013	0.025	B	0.25614	0.062	T	0.22138	-1.0225	8	.	.	.	.	5.2353	0.15443	0.5305:0.4695:0.0:0.0	.	381	P0CI25	TRI49_HUMAN	V	381;304	ENSP00000327604:G381V	.	G	-	2	0	TRIM49	89171163	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.110000	0.03306	-1.023000	0.03342	0.194000	0.17425	GGG		PASS	0.438	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		30	102	30	102	---	---	---	---
ARCN1	372	broad.mit.edu	37	11	118451966	118451966	+	Silent	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:118451966G>T	ENST00000264028.4	+	2	104	c.9G>T	c.(7-9)ctG>ctT	p.L3L	ARCN1_ENST00000359415.4_Silent_p.L44L|ARCN1_ENST00000534182.2_Silent_p.L3L|ARCN1_ENST00000392859.3_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	3					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L3L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCAGGTGCTGTTGGCAGCAG	0.413																																						uc001ptq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(7-9)CTG>CTT		archain isoform 1							107.0	102.0	104.0					11																	118451966		2200	4295	6495	SO:0001819	synonymous_variant	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118451966G>T	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.9G>T	11.37:g.118451966G>T						ARCN1_uc009zah.2_Silent_p.L3L|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Silent_p.L44L	p.L3L	NM_001655	NP_001646	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	2	170	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	3					B4E1X2|E9PEU4|Q52M80	Silent	SNP	ENST00000264028.4	37	c.9G>T	CCDS8400.1																																																																																				PASS	0.413	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			40	68	40	68	---	---	---	---
FOXRED1	55572	broad.mit.edu	37	11	126145236	126145236	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr11:126145236G>T	ENST00000263578.5	+	6	720	c.646G>T	c.(646-648)Ggt>Tgt	p.G216C	FOXRED1_ENST00000532125.1_Missense_Mutation_p.G202C|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Missense_Mutation_p.G46C	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	216						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.G216C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GGAGGACGAAGGTTGGTTTGA	0.537																																						uc001qdi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(646-648)GGT>TGT		FAD-dependent oxidoreductase domain containing							106.0	97.0	100.0					11																	126145236		2201	4298	6499	SO:0001583	missense	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126145236G>T		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.646G>T	11.37:g.126145236G>T	ENSP00000263578:p.Gly216Cys					FOXRED1_uc010sbn.1_Missense_Mutation_p.G46C|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.G29C|FOXRED1_uc010sbq.1_Missense_Mutation_p.G83C|FOXRED1_uc001qdj.2_Missense_Mutation_p.G5C|FOXRED1_uc010sbr.1_Missense_Mutation_p.G202C|FOXRED1_uc001qdk.2_Missense_Mutation_p.G5C	p.G216C	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	6	693	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	216					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	ENST00000263578.5	37	c.646G>T	CCDS8471.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787732	0.90367	.	.	ENSG00000110074	ENST00000263578;ENST00000442061;ENST00000532125	D;D;D	0.85411	-1.98;-1.98;-1.98	5.77	5.77	0.91146	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.95322	0.8482	H	0.95950	3.745	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	0.96246	0.9179	10	0.87932	D	0	-11.2613	19.5806	0.95465	0.0:0.0:1.0:0.0	.	202;83;216	Q96CU9-3;B4DI59;Q96CU9	.;.;FXRD1_HUMAN	C	216;46;202	ENSP00000263578:G216C;ENSP00000404371:G46C;ENSP00000434178:G202C	ENSP00000263578:G216C	G	+	1	0	FOXRED1	125650446	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.119000	0.94362	2.726000	0.93360	0.643000	0.83706	GGT		PASS	0.537	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		39	143	39	143	---	---	---	---
SCNN1A	6337	broad.mit.edu	37	12	6458148	6458148	+	Silent	SNP	C	C	T	rs368914240		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:6458148C>T	ENST00000228916.2	-	11	1619	c.1521G>A	c.(1519-1521)tcG>tcA	p.S507S	SCNN1A_ENST00000396966.2_Missense_Mutation_p.R488H|SCNN1A_ENST00000540037.1_Silent_p.S207S|SCNN1A_ENST00000543768.1_Silent_p.S530S|SCNN1A_ENST00000360168.3_Silent_p.S566S|SCNN1A_ENST00000358945.3_Silent_p.S529S	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	507					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.S507S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TGTTCTGTCGCGATAGCATCT	0.493																																						uc001qnx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1519-1521)TCG>TCA		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)		,,	0,4406		0,0,2203	291.0	276.0	281.0		1521,1590,1698	0.3	0.1	12		281	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SCNN1A	NM_001038.5,NM_001159575.1,NM_001159576.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	507/670,530/693,566/729	6458148	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6458148C>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1521G>A	12.37:g.6458148C>T						SCNN1A_uc001qnv.2_Silent_p.S207S|SCNN1A_uc001qnw.2_Silent_p.S566S|SCNN1A_uc010sfb.1_Silent_p.S530S	p.S507S	NM_001038	NP_001029	P37088	SCNNA_HUMAN			11	1810	-			507			Extracellular (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	c.1521G>A	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	c	8.885	0.952612	0.18431	0.0	1.16E-4	ENSG00000111319	ENST00000396966	T	0.63255	-0.03	4.67	0.287	0.15714	.	.	.	.	.	T	0.54806	0.1881	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.52056	-0.8626	6	0.72032	D	0.01	-25.8039	3.9165	0.09225	0.0919:0.2974:0.4636:0.1471	.	.	.	.	H	488	ENSP00000380166:R488H	ENSP00000380166:R488H	R	-	2	0	SCNN1A	6328409	0.282000	0.24268	0.092000	0.20876	0.417000	0.31264	0.184000	0.16939	0.147000	0.19030	-0.241000	0.12123	CGC		PASS	0.493	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			403	392	403	392	---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15822599	15822599	+	Splice_Site	SNP	T	T	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:15822599T>A	ENST00000281172.5	-	5	801	c.365A>T	c.(364-366)aAg>aTg	p.K122M	EPS8_ENST00000543612.1_Splice_Site_p.K122M|RNU6-251P_ENST00000363235.1_RNA|EPS8_ENST00000543523.1_Splice_Site_p.K122M	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	122	PH; first part.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.K122M(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CACACTTGCCTTTGATTCTAA	0.328																																						uc009zif.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(364-366)AAG>ATG		epidermal growth factor receptor pathway							81.0	75.0	77.0					12																	15822599		2203	4300	6503	SO:0001630	splice_region_variant	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15822599T>A	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.366+1A>T	12.37:g.15822599T>A						EPS8_uc001rdb.2_Missense_Mutation_p.K122M|EPS8_uc009zig.2_Translation_Start_Site	p.K122M	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	5	459	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	122			PH; first part.		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.365A>T	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.081032	0.76528	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.23	4.08	0.47627	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.051886	0.85682	D	0.000000	T	0.67998	0.2953	M	0.72353	2.195	0.80722	D	1	D	0.69078	0.997	D	0.74674	0.984	T	0.71276	-0.4641	10	0.72032	D	0.01	-22.0314	10.6917	0.45875	0.0:0.0752:0.0:0.9248	.	122	Q12929	EPS8_HUMAN	M	122	ENSP00000441867:K122M;ENSP00000281172:K122M;ENSP00000442388:K122M;ENSP00000445235:K122M	ENSP00000281172:K122M	K	-	2	0	EPS8	15713866	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.242000	0.72376	2.105000	0.64084	0.528000	0.53228	AAG		PASS	0.328	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		Missense_Mutation	46	73	46	73	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29649181	29649181	+	Missense_Mutation	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:29649181A>G	ENST00000318184.5	-	3	213	c.214T>C	c.(214-216)Tgt>Cgt	p.C72R		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	72	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.C72R(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)					CTTCCTCCACAGAAGTGGTGC	0.458																																						uc001rix.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(214-216)TGT>CGT		ovochymase 1 precursor							72.0	71.0	72.0					12																	29649181		1952	4158	6110	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29649181A>G	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.214T>C	12.37:g.29649181A>G	ENSP00000326708:p.Cys72Arg						p.C72R	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			3	214	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		72			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.214T>C		.	.	.	.	.	.	.	.	.	.	A	6.294	0.422365	0.11928	.	.	ENSG00000187950	ENST00000318184	D	0.98701	-5.08	2.82	0.321	0.15883	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.97807	0.9280	M	0.94101	3.495	0.09310	N	0.999994	B	0.29909	0.261	B	0.29440	0.102	D	0.95302	0.8404	9	0.87932	D	0	.	2.2056	0.03934	0.6053:0.0:0.1448:0.2499	.	72	Q7RTY7	OVCH1_HUMAN	R	72	ENSP00000326708:C72R	ENSP00000326708:C72R	C	-	1	0	OVCH1	29540448	1.000000	0.71417	0.031000	0.17742	0.036000	0.12997	2.637000	0.46553	0.053000	0.16036	0.533000	0.62120	TGT		PASS	0.458	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		8	17	8	17	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40757299	40757299	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:40757299T>C	ENST00000298910.7	+	48	7182	c.7124T>C	c.(7123-7125)gTg>gCg	p.V2375A		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2375					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.V2382A(1)|p.V2375A(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTGTGGAAGTGTGGGATAAG	0.363																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(7123-7125)GTG>GCG		leucine-rich repeat kinase 2							118.0	122.0	121.0					12																	40757299		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40757299T>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7124T>C	12.37:g.40757299T>C	ENSP00000298910:p.Val2375Ala					LRRK2_uc009zjw.2_Missense_Mutation_p.V1213A|LRRK2_uc001rmi.2_Missense_Mutation_p.V1208A	p.V2375A	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			48	7245	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2375					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.7124T>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158356	0.78114	.	.	ENSG00000188906	ENST00000298910	T	0.40756	1.02	5.28	5.28	0.74379	WD40 repeat-like-containing domain (1);Armadillo-like helical (1);	0.114142	0.64402	D	0.000016	T	0.48150	0.1484	M	0.61703	1.905	0.33982	D	0.648096	P;P	0.52316	0.952;0.952	P;P	0.46685	0.524;0.524	T	0.67027	-0.5774	10	0.66056	D	0.02	.	14.8796	0.70522	0.0:0.0:0.0:1.0	.	2375;2375	Q17RV3;Q5S007	.;LRRK2_HUMAN	A	2375	ENSP00000298910:V2375A	ENSP00000298910:V2375A	V	+	2	0	LRRK2	39043566	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.940000	0.70187	2.003000	0.58678	0.383000	0.25322	GTG		PASS	0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		86	12	86	12	---	---	---	---
KRT6A	3853	broad.mit.edu	37	12	52884675	52884675	+	Silent	SNP	G	G	A	rs398542		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:52884675G>A	ENST00000330722.6	-	4	947	c.879C>T	c.(877-879)gaC>gaT	p.D293D		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	293	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.D293D(4)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGTTGATCTCGTCTGTGAGAG	0.498																																						uc001sam.2																			4	Substitution - coding silent(4)		kidney(2)|lung(1)|endometrium(1)	ovary(4)|skin(1)	5						c.(877-879)GAC>GAT		keratin 6A							196.0	172.0	180.0					12																	52884675		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52884675G>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.879C>T	12.37:g.52884675G>A							p.D293D	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	1088	-			293			Coil 1B.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.879C>T	CCDS41786.1																																																																																				PASS	0.498	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		4	127	4	127	---	---	---	---
WIF1	11197	broad.mit.edu	37	12	65461474	65461474	+	Splice_Site	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:65461474C>T	ENST00000286574.4	-	5	1009		c.e5+1			NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1						multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.?(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CCATGTCTTACCTTTCTCACA	0.488			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		2	Unknown(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.e5+1		WNT inhibitory factor 1 precursor							97.0	82.0	87.0					12																	65461474		2203	4300	6503	SO:0001630	splice_region_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461474C>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.634+1G>A	12.37:g.65461474C>T							p.A212_splice	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	779	-								Q6UXI1|Q8WVG4	Splice_Site	SNP	ENST00000286574.4	37	c.634_splice	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521266	0.64747	.	.	ENSG00000156076	ENST00000286574	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WIF1	63747741	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	6.177000	0.71961	2.832000	0.97577	0.655000	0.94253	.		PASS	0.488	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		Intron	60	53	60	53	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70986093	70986093	+	Silent	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:70986093C>G	ENST00000261266.5	-	5	1124	c.1095G>C	c.(1093-1095)ctG>ctC	p.L365L	PTPRB_ENST00000451516.2_Silent_p.L365L|PTPRB_ENST00000550358.1_Silent_p.L583L|PTPRB_ENST00000551525.1_Silent_p.L582L|PTPRB_ENST00000334414.6_Silent_p.L583L|PTPRB_ENST00000550857.1_Silent_p.L365L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Silent_p.L365L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	365	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L365L(2)|p.L583L(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTGAGCAGACAGTTCACCAG	0.448																																						uc001swb.3																			3	Substitution - coding silent(3)		lung(3)	lung(2)|skin(1)	3						c.(1093-1095)CTG>CTC		protein tyrosine phosphatase, receptor type, B							100.0	97.0	98.0					12																	70986093		1980	4165	6145	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70986093C>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1095G>C	12.37:g.70986093C>G						PTPRB_uc010sto.1_Silent_p.L365L|PTPRB_uc010stp.1_Silent_p.L365L|PTPRB_uc001swc.3_Silent_p.L583L|PTPRB_uc001swa.3_Silent_p.L583L|PTPRB_uc001swd.3_Silent_p.L582L|PTPRB_uc009zrr.1_Silent_p.L462L|PTPRB_uc001swe.2_Silent_p.L583L	p.L365L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		5	1125	-	Renal(347;0.236)		365			Fibronectin type-III 4.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.1095G>C	CCDS44944.1																																																																																				PASS	0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			81	102	81	102	---	---	---	---
CCDC38	120935	broad.mit.edu	37	12	96292356	96292356	+	Missense_Mutation	SNP	C	C	T	rs200003296		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:96292356C>T	ENST00000344280.3	-	6	1080	c.523G>A	c.(523-525)Gct>Act	p.A175T	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	175								p.A175T(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATTTTCAGAGCGTCTACAGAT	0.393																																						uc001tek.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(523-525)GCT>ACT		coiled-coil domain containing 38		C	THR/ALA	0,4406		0,0,2203	162.0	156.0	158.0		523	5.7	1.0	12		158	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC38	NM_182496.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	175/564	96292356	1,13005	2203	4300	6503	SO:0001583	missense	120935							g.chr12:96292356C>T	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.523G>A	12.37:g.96292356C>T	ENSP00000345470:p.Ala175Thr						p.A175T	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			6	757	-			175			Potential.		Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.523G>A	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084485	0.55861	0.0	1.16E-4	ENSG00000165972	ENST00000344280	T	0.30448	1.53	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57923	-0.7727	10	0.49607	T	0.09	-12.6248	16.6669	0.85255	0.0:1.0:0.0:0.0	.	175	Q502W7	CCD38_HUMAN	T	175	ENSP00000345470:A175T	ENSP00000345470:A175T	A	-	1	0	CCDC38	94816487	0.997000	0.39634	0.994000	0.49952	0.009000	0.06853	4.209000	0.58493	2.667000	0.90743	0.491000	0.48974	GCT		PASS	0.393	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		76	9	76	9	---	---	---	---
APPL2	55198	broad.mit.edu	37	12	105582189	105582189	+	Missense_Mutation	SNP	A	A	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:105582189A>C	ENST00000258530.3	-	17	1721	c.1496T>G	c.(1495-1497)tTg>tGg	p.L499W	APPL2_ENST00000539978.2_Missense_Mutation_p.L456W|APPL2_ENST00000551662.1_Missense_Mutation_p.L505W	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.L499W(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						CATTGATCCCAAAAACCGAAC	0.423																																						uc001tlf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1495-1497)TTG>TGG		adaptor protein, phosphotyrosine interaction, PH							99.0	96.0	97.0					12																	105582189		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105582189A>C	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.1496T>G	12.37:g.105582189A>C	ENSP00000258530:p.Leu499Trp					APPL2_uc010swt.1_Missense_Mutation_p.L456W|APPL2_uc001tlg.1_Missense_Mutation_p.L253W|APPL2_uc010swu.1_Missense_Mutation_p.L505W|APPL2_uc009zuq.2_Missense_Mutation_p.L456W	p.L499W	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			17	1714	-			499			PID.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1496T>G	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307904	0.81247	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.36878	1.23;1.23;1.23	5.35	5.35	0.76521	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.071119	0.56097	D	0.000023	T	0.62938	0.2469	M	0.79926	2.475	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.943;0.997	T	0.68792	-0.5315	10	0.87932	D	0	-13.0346	15.3328	0.74226	1.0:0.0:0.0:0.0	.	505;456;499	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	W	499;456;505	ENSP00000258530:L499W;ENSP00000444472:L456W;ENSP00000446917:L505W	ENSP00000258530:L499W	L	-	2	0	APPL2	104106319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.444000	0.80532	2.020000	0.59435	0.519000	0.50382	TTG		PASS	0.423	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		63	7	63	7	---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114397945	114397945	+	Silent	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:114397945G>T	ENST00000545145.2	-	3	336	c.258C>A	c.(256-258)ccC>ccA	p.P86P	RBM19_ENST00000392561.3_Silent_p.P86P|RBM19_ENST00000261741.5_Silent_p.P86P	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	86					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P86P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCAGGCTCTGGGTTTGGCCG	0.532																																						uc009zwi.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(256-258)CCC>CCA		RNA binding motif protein 19							98.0	97.0	97.0					12																	114397945		2203	4300	6503	SO:0001819	synonymous_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114397945G>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.258C>A	12.37:g.114397945G>T						RBM19_uc001tvn.3_Silent_p.P86P|RBM19_uc001tvm.2_Silent_p.P86P	p.P86P	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			3	402	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		86					A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	c.258C>A	CCDS9172.1																																																																																				PASS	0.532	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		48	10	48	10	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115112350	115112350	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:115112350G>T	ENST00000257566.3	-	7	1779	c.1390C>A	c.(1390-1392)Ccg>Acg	p.P464T	TBX3_ENST00000349155.2_Missense_Mutation_p.P444T	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	464					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.P464T(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)		ACCTTGGCCGGCGCTGTGCCC	0.766																																						uc001tvt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1390-1392)CCG>ACG		T-box 3 protein isoform 2							6.0	9.0	8.0					12																	115112350		2061	3990	6051	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.chr12:115112350G>T	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.1390C>A	12.37:g.115112350G>T	ENSP00000257566:p.Pro464Thr					TBX3_uc001tvu.1_Missense_Mutation_p.P444T	p.P464T	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2354	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		464					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1390C>A	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	0.051	-1.250571	0.01469	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87412	-2.25;-2.25	3.64	-7.27	0.01461	.	2.772170	0.00832	N	0.001678	T	0.69024	0.3065	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63786	-0.6558	10	0.17369	T	0.5	.	4.6596	0.12636	0.1113:0.1804:0.5562:0.1521	.	444;464	O15119-2;O15119	.;TBX3_HUMAN	T	444;464;464	ENSP00000257567:P444T;ENSP00000257566:P464T	ENSP00000257566:P464T	P	-	1	0	TBX3	113596733	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-2.448000	0.01009	-2.193000	0.00754	-0.500000	0.04577	CCG		PASS	0.766	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		5	1	5	1	---	---	---	---
IL31	386653	broad.mit.edu	37	12	122658483	122658483	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr12:122658483G>T	ENST00000377035.1	-	2	99	c.73C>A	c.(73-75)Cac>Aac	p.H25N		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	25					immune system process (GO:0002376)	extracellular space (GO:0005615)		p.H25N(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGCAACGTGTGGGAGGCCAGC	0.532																																						uc001ubv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(73-75)CAC>AAC		interleukin 31 precursor							83.0	77.0	79.0					12																	122658483		2203	4300	6503	SO:0001583	missense	386653					extracellular space	cytokine activity	g.chr12:122658483G>T	AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"""Interleukins and interleukin receptors"""	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916	ENST00000377035.1:c.73C>A	12.37:g.122658483G>T	ENSP00000366234:p.His25Asn					LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	p.H25N	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)	2	100	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)	25					A2RUQ1	Missense_Mutation	SNP	ENST00000377035.1	37	c.73C>A	CCDS31919.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894924	0.33442	.	.	ENSG00000204671	ENST00000377035	.	.	.	4.59	0.608	0.17569	.	1.000500	0.08066	N	0.999106	T	0.31949	0.0813	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.56960	0.81	T	0.15694	-1.0428	9	0.06365	T	0.9	-5.9326	5.9935	0.19480	0.4718:0.0:0.5282:0.0	.	25	Q6EBC2	IL31_HUMAN	N	25	.	ENSP00000366234:H25N	H	-	1	0	IL31	121224436	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.262000	0.08682	0.231000	0.21079	0.563000	0.77884	CAC		PASS	0.532	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1	NM_001014336		77	12	77	12	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32783211	32783211	+	Missense_Mutation	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr13:32783211C>G	ENST00000380250.3	+	32	4736	c.4240C>G	c.(4240-4242)Ctg>Gtg	p.L1414V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1414						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L1414V(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCCACGTCACTGGTCCTGAA	0.537																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(4240-4242)CTG>GTG		furry homolog							63.0	66.0	65.0					13																	32783211		1967	4152	6119	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32783211C>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4240C>G	13.37:g.32783211C>G	ENSP00000369600:p.Leu1414Val					FRY_uc010tdw.1_RNA	p.L1414V	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	32	4736	+		Lung SC(185;0.0271)	1414					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4240C>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843994	0.71488	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23754	1.89	5.21	2.53	0.30540	.	0.079473	0.51477	D	0.000081	T	0.36580	0.0972	L	0.52364	1.645	0.80722	D	1	D	0.55385	0.971	P	0.60068	0.868	T	0.03945	-1.0990	10	0.44086	T	0.13	.	9.7519	0.40481	0.0:0.7104:0.0:0.2896	.	1414	Q5TBA9	FRY_HUMAN	V	1414;251	ENSP00000369600:L1414V	ENSP00000369600:L1414V	L	+	1	2	FRY	31681211	0.007000	0.16637	0.469000	0.27204	0.986000	0.74619	0.196000	0.17176	0.596000	0.29794	0.484000	0.47621	CTG		PASS	0.537	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		54	10	54	10	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35692566	35692566	+	Missense_Mutation	SNP	A	A	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr13:35692566A>C	ENST00000400445.3	+	16	2732	c.2198A>C	c.(2197-2199)cAc>cCc	p.H733P	NBEA_ENST00000310336.4_Missense_Mutation_p.H733P|NBEA_ENST00000540320.1_Missense_Mutation_p.H733P|NBEA_ENST00000379939.2_Missense_Mutation_p.H733P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	733					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.H733P(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGTCGGAACACCCAGCCTCA	0.333																																						uc001uvb.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(2197-2199)CAC>CCC		neurobeachin							50.0	45.0	47.0					13																	35692566		1845	4079	5924	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35692566A>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2198A>C	13.37:g.35692566A>C	ENSP00000383295:p.His733Pro						p.H733P	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	17	2404	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	733					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.2198A>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739030	0.69304	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	3.96	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.62282	-0.6887	10	0.29301	T	0.29	.	13.162	0.59550	1.0:0.0:0.0:0.0	.	733	Q5T321	.	P	733	ENSP00000440951:H733P;ENSP00000383295:H733P;ENSP00000369271:H733P;ENSP00000308534:H733P	ENSP00000308534:H733P	H	+	2	0	NBEA	34590566	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.960000	0.93117	1.568000	0.49683	0.372000	0.22366	CAC		PASS	0.333	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		10	3	10	3	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46725138	46725138	+	Missense_Mutation	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr13:46725138C>G	ENST00000398576.2	-	11	1203	c.815G>C	c.(814-816)aGg>aCg	p.R272T	LCP1_ENST00000323076.2_Missense_Mutation_p.R272T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	272	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.R272T(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATTAGCCCACCTCAGCAAGAG	0.463			T	BCL6	NHL																																	uc001vaz.3				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)	7						c.(814-816)AGG>ACG		L-plastin							106.0	96.0	100.0					13																	46725138		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46725138C>G	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.815G>C	13.37:g.46725138C>G	ENSP00000381581:p.Arg272Thr					LCP1_uc001vba.3_Missense_Mutation_p.R272T	p.R272T	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	8	941	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	272			CH 2.|Actin-binding 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.815G>C	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247752	0.95305	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.96334	-3.98;-3.98	5.79	5.79	0.91817	Calponin homology domain (5);	0.093937	0.85682	D	0.000000	D	0.98479	0.9493	M	0.91300	3.195	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	D	0.99215	1.0877	10	0.87932	D	0	-21.4103	19.0163	0.92896	0.0:1.0:0.0:0.0	.	272	P13796	PLSL_HUMAN	T	272	ENSP00000315757:R272T;ENSP00000381581:R272T	ENSP00000315757:R272T	R	-	2	0	LCP1	45623139	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.487000	0.81328	2.727000	0.93392	0.655000	0.94253	AGG		PASS	0.463	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		95	17	95	17	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48953748	48953748	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr13:48953748C>T	ENST00000267163.4	+	14	1489	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	451	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R451C(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACTTGGAGTTCGCTTGTATTA	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		26	Whole gene deletion(15)|Unknown(8)|Substitution - Missense(3)	p.?(7)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|large_intestine(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(1351-1353)CGC>TGC		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						21.0	22.0	22.0					13																	48953748		2201	4300	6501	SO:0001583	missense	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48953748C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1351C>T	13.37:g.48953748C>T	ENSP00000267163:p.Arg451Cys	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R451C	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	14	1517	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	451			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.1351C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190230	0.78789	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.88277	-2.36	5.74	5.74	0.90152	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.140776	0.48286	D	0.000188	D	0.94135	0.8119	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93800	0.7100	10	0.59425	D	0.04	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	451	P06400	RB_HUMAN	C	430;451	ENSP00000267163:R451C	ENSP00000267163:R451C	R	+	1	0	RB1	47851749	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	4.397000	0.59690	2.707000	0.92482	0.557000	0.71058	CGC		PASS	0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			4	24	4	24	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60566228	60566228	+	Silent	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr13:60566228G>A	ENST00000400324.4	-	11	1438	c.1218C>T	c.(1216-1218)cgC>cgT	p.R406R	DIAPH3_ENST00000400320.1_Silent_p.R360R|DIAPH3_ENST00000377908.2_Silent_p.R395R|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Silent_p.R336R|DIAPH3_ENST00000267215.4_Silent_p.R406R|DIAPH3_ENST00000400330.1_Silent_p.R406R	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	406	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R406R(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TATCTTCAAGGCGATGGGATA	0.313																																						uc001vht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1216-1218)CGC>CGT		diaphanous homolog 3 isoform a							82.0	77.0	79.0					13																	60566228		1810	4069	5879	SO:0001819	synonymous_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60566228G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1218C>T	13.37:g.60566228G>A						DIAPH3_uc001vhu.2_Silent_p.R143R|DIAPH3_uc001vhv.2_5'Flank|DIAPH3_uc001vhw.1_Silent_p.R395R|DIAPH3_uc010aed.1_Silent_p.R360R|DIAPH3_uc010aee.1_Silent_p.R336R	p.R406R	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	11	1437	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	406			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	c.1218C>T	CCDS41898.1																																																																																				PASS	0.313	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		51	10	51	10	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70514310	70514310	+	Silent	SNP	A	A	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr13:70514310A>C	ENST00000377844.4	-	4	1635	c.876T>G	c.(874-876)ctT>ctG	p.L292L	KLHL1_ENST00000545028.1_Silent_p.L99L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	292					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.L292L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTGGAAGCTGAAGAAGGCACG	0.428																																						uc001vip.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(874-876)CTT>CTG		kelch-like 1 protein							71.0	64.0	66.0					13																	70514310		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70514310A>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.876T>G	13.37:g.70514310A>C						KLHL1_uc010thm.1_Silent_p.L231L	p.L292L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	4	1670	-		Breast(118;0.000162)	292					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.876T>G	CCDS9445.1																																																																																				PASS	0.428	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		13	27	13	27	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110818651	110818651	+	Splice_Site	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr13:110818651C>G	ENST00000375820.4	-	45	4071		c.e45-1		COL4A1_ENST00000467182.1_5'Flank	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTTGGACCTAAAAGCAGA	0.453																																						uc001vqw.3																			2	Unknown(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.e45-1		alpha 1 type IV collagen preproprotein							131.0	120.0	124.0					13																	110818651		2203	4300	6503	SO:0001630	splice_region_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110818651C>G	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3950-1G>C	13.37:g.110818651C>G						COL4A1_uc010agl.2_Intron	p.G1317_splice	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		45	4072	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)						A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Splice_Site	SNP	ENST00000375820.4	37	c.3950_splice	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	9.944	1.218417	0.22373	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6214	0.88083	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A1	109616652	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	4.805000	0.62561	2.166000	0.68216	0.655000	0.94253	.		PASS	0.453	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		Intron	71	12	71	12	---	---	---	---
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						uc001vup.2																			8	Substitution - coding silent(8)		lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	skin(1)	1						c.(271-273)CTG>TTG		UPF3 regulator of nonsense transcripts homolog A							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	p.L91L	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	308	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				PASS	0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			2	2	2	2	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52520919	52520919	+	Silent	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr14:52520919C>A	ENST00000216286.5	-	4	887	c.888G>T	c.(886-888)ctG>ctT	p.L296L	NID2_ENST00000541773.1_Silent_p.L243L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	296					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.L296L(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGGAACGTCCCAGGGGAACAG	0.522																																						uc001wzo.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(886-888)CTG>CTT		nidogen 2 precursor							52.0	50.0	50.0					14																	52520919		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520919C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.888G>T	14.37:g.52520919C>A						NID2_uc010tqs.1_Silent_p.L296L|NID2_uc010tqt.1_Silent_p.L296L|NID2_uc001wzp.2_Silent_p.L296L	p.L296L	NM_007361	NP_031387	Q14112	NID2_HUMAN			4	1122	-	Breast(41;0.0639)|all_epithelial(31;0.123)		296					A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.888G>T	CCDS9706.1																																																																																				PASS	0.522	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			24	37	24	37	---	---	---	---
SERPINA5	5104	broad.mit.edu	37	14	95054021	95054021	+	Missense_Mutation	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr14:95054021C>G	ENST00000554866.1	+	2	436	c.322C>G	c.(322-324)Cac>Gac	p.H108D	SERPINA5_ENST00000553780.1_Missense_Mutation_p.H108D|SERPINA5_ENST00000554276.1_Missense_Mutation_p.H108D|SERPINA5_ENST00000329597.7_Missense_Mutation_p.H108D			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	108					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.H108D(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GAAGGAGCTGCACAGAGGCTT	0.597																																						uc001ydm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(322-324)CAC>GAC		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						36.0	35.0	35.0					14																	95054021		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054021C>G	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.322C>G	14.37:g.95054021C>G	ENSP00000451126:p.His108Asp					SERPINA5_uc010ave.2_Missense_Mutation_p.H108D|SERPINA5_uc001ydn.1_Missense_Mutation_p.H108D	p.H108D	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	532	+			108					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.322C>G	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735636	0.69189	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000555681;ENST00000554276;ENST00000557598	D;D;D;D;D;T;T;D;T	0.89415	-1.88;-1.88;-2.51;-1.88;-1.88;-1.06;-1.06;-1.88;-1.06	3.94	3.94	0.45596	Serpin domain (3);	0.170182	0.39985	N	0.001209	D	0.94994	0.8380	M	0.88842	2.985	0.39052	D	0.960342	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96618	0.9457	10	0.87932	D	0	.	15.5044	0.75725	0.0:1.0:0.0:0.0	.	108;108	G3V5Q9;P05154	.;IPSP_HUMAN	D	108	ENSP00000450484:H108D;ENSP00000450837:H108D;ENSP00000452469:H108D;ENSP00000451126:H108D;ENSP00000333203:H108D;ENSP00000450745:H108D;ENSP00000451650:H108D;ENSP00000451610:H108D;ENSP00000450485:H108D	ENSP00000333203:H108D	H	+	1	0	SERPINA5	94123774	0.987000	0.35691	0.514000	0.27761	0.605000	0.37080	2.565000	0.45939	2.204000	0.70986	0.549000	0.68633	CAC		PASS	0.597	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		33	40	33	40	---	---	---	---
EML1	2009	broad.mit.edu	37	14	100375748	100375748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr14:100375748G>T	ENST00000262233.6	+	11	1310	c.1171G>T	c.(1171-1173)Gga>Tga	p.G391*	EML1_ENST00000334192.4_Nonsense_Mutation_p.G410*|EML1_ENST00000327921.9_Nonsense_Mutation_p.G379*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	391	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.G410*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGTTACTTGTGGAAAATCACA	0.393																																						uc001ygs.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(1171-1173)GGA>TGA		echinoderm microtubule associated protein like 1							158.0	156.0	157.0					14																	100375748		2203	4300	6503	SO:0001587	stop_gained	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100375748G>T	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1171G>T	14.37:g.100375748G>T	ENSP00000262233:p.Gly391*					EML1_uc010avt.1_Nonsense_Mutation_p.G378*|EML1_uc010tww.1_Nonsense_Mutation_p.G379*|EML1_uc001ygq.2_Nonsense_Mutation_p.G410*|EML1_uc001ygr.2_Nonsense_Mutation_p.G410*	p.G391*	NM_004434	NP_004425	O00423	EMAL1_HUMAN			11	1240	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	391			WD 3.		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	ENST00000262233.6	37	c.1171G>T	CCDS32155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.397156|13.397156	0.99739|0.99739	.|.	.|.	ENSG00000066629|ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138|ENST00000554386	.|.	.|.	.|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74816	.|0.3766	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74022	.|-0.3798	.|3	0.87932|.	D|.	0|.	-16.5722|-16.5722	18.7108|18.7108	0.91656|0.91656	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	378;379;391;410;410|83	.|.	ENSP00000262233:G391X|.	G|W	+|+	1|2	0|0	EML1|EML1	99445501|99445501	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.884000|0.884000	0.51177|0.51177	9.684000|9.684000	0.98659|0.98659	2.425000|2.425000	0.82216|0.82216	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.393	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		99	134	99	134	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104202520	104202520	+	Silent	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr14:104202520A>G	ENST00000202556.9	-	16	3333	c.3051T>C	c.(3049-3051)ggT>ggC	p.G1017G	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.C381R|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	1017					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G1017G(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGTTCATCACACCCAGCTTTT	0.607																																						uc001yof.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3049-3051)GGT>GGC		apoptosis-stimulating protein of p53, 1							121.0	123.0	123.0					14																	104202520		2152	4246	6398	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104202520A>G	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.3051T>C	14.37:g.104202520A>G						PPP1R13B_uc010awv.1_RNA	p.G1017G	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			16	3334	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	1017					B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.3051T>C	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437727	0.43224	.	.	ENSG00000088808	ENST00000423488	T	0.55234	0.53	5.4	-5.68	0.02436	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.41426	D	0.987837	.	.	.	.	.	.	T	0.56962	-0.7892	6	0.87932	D	0	.	1.541	0.02555	0.1407:0.3473:0.1888:0.3231	.	.	.	.	R	381	ENSP00000395213:C381R	ENSP00000395213:C381R	C	-	1	0	PPP1R13B	103272273	0.004000	0.15560	0.984000	0.44739	0.996000	0.88848	-1.148000	0.03185	-0.765000	0.04645	0.459000	0.35465	TGT		PASS	0.607	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		61	125	61	125	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105415305	105415305	+	Silent	SNP	C	C	G	rs74090124	byFrequency	TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr14:105415305C>G	ENST00000333244.5	-	7	6602	c.6483G>C	c.(6481-6483)ccG>ccC	p.P2161P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2161						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.P2161P(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)			CCCCAAACGACGGCATCTTGA	0.592													.|||	3	0.000599042	0.0008	0.0014	5008	,	,		16342	0.0		0.001	False		,,,				2504	0.0					uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(6481-6483)CCG>CCC		AHNAK nucleoprotein 2							227.0	156.0	181.0					14																	105415305		1947	3569	5516	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105415305C>G	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.6483G>C	14.37:g.105415305C>G						AHNAK2_uc001ypx.2_Silent_p.P2061P	p.P2161P	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	6603	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2161					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.6483G>C	CCDS45177.1																																																																																				PASS	0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		2	1	2	1	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28459024	28459024	+	Missense_Mutation	SNP	A	A	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr15:28459024A>T	ENST00000261609.7	-	42	6758	c.6650T>A	c.(6649-6651)cTg>cAg	p.L2217Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.L2217Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCCAGGCGCAGGCGACCATC	0.582																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(6649-6651)CTG>CAG		hect domain and RLD 2							81.0	73.0	76.0					15																	28459024		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28459024A>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6650T>A	15.37:g.28459024A>T	ENSP00000261609:p.Leu2217Gln						p.L2217Q	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	42	6756	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2217						Missense_Mutation	SNP	ENST00000261609.7	37	c.6650T>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942433	0.73672	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	5.31	5.31	0.75309	.	0.154765	0.40728	N	0.001034	T	0.61974	0.2390	M	0.63843	1.955	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.64101	-0.6486	10	0.59425	D	0.04	.	15.4283	0.75072	1.0:0.0:0.0:0.0	.	2217	O95714	HERC2_HUMAN	Q	2217	ENSP00000261609:L2217Q	ENSP00000261609:L2217Q	L	-	2	0	HERC2	26132619	1.000000	0.71417	0.996000	0.52242	0.333000	0.28666	8.751000	0.91628	2.238000	0.73509	0.397000	0.26171	CTG		PASS	0.582	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		30	10	30	10	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30000933	30000933	+	Missense_Mutation	SNP	T	T	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr15:30000933T>A	ENST00000346128.6	-	25	5154	c.4680A>T	c.(4678-4680)aaA>aaT	p.K1560N	TJP1_ENST00000545208.2_Missense_Mutation_p.K1480N|TJP1_ENST00000400011.2_Missense_Mutation_p.K1484N|TJP1_ENST00000356107.6_Missense_Mutation_p.K1560N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1560					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.K1560N(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACAAGTCAGGTTTATGTGCAG	0.413																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(4678-4680)AAA>AAT		tight junction protein 1 isoform a							242.0	222.0	229.0					15																	30000933		1888	4129	6017	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30000933T>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4680A>T	15.37:g.30000933T>A	ENSP00000281537:p.Lys1560Asn					TJP1_uc010azl.2_Missense_Mutation_p.K1548N|TJP1_uc001zcq.2_Missense_Mutation_p.K1484N|TJP1_uc001zcs.2_Missense_Mutation_p.K1480N	p.K1560N	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	25	5155	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1560					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4680A>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797735	0.70567	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.61627	0.09;0.09	5.65	0.723	0.18231	.	0.205349	0.49916	N	0.000124	T	0.65165	0.2665	L	0.60455	1.87	0.80722	D	1	D;D;B;B	0.76494	0.999;0.996;0.394;0.197	D;P;B;B	0.83275	0.996;0.9;0.116;0.039	T	0.61869	-0.6974	10	0.87932	D	0	.	4.6898	0.12776	0.129:0.2758:0.0:0.5952	.	1553;1480;1560;1484	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	N	1560;1484;1560;1480;1480	ENSP00000281537:K1560N;ENSP00000382890:K1484N	ENSP00000281537:K1560N	K	-	3	2	TJP1	27788225	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	0.800000	0.27042	-0.037000	0.13646	0.533000	0.62120	AAA		PASS	0.413	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		178	39	178	39	---	---	---	---
GJD2	57369	broad.mit.edu	37	15	35044963	35044963	+	Silent	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr15:35044963A>G	ENST00000290374.4	-	2	1158	c.682T>C	c.(682-684)Ttg>Ctg	p.L228L	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	228					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.L228L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CACTCATACAACCCTGGGACA	0.473																																						uc001zis.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(682-684)TTG>CTG		gap junction protein, delta 2, 36kDa							95.0	79.0	84.0					15																	35044963		2201	4298	6499	SO:0001819	synonymous_variant	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35044963A>G	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.682T>C	15.37:g.35044963A>G						uc001zit.1_5'Flank	p.L228L	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	682	-		all_lung(180;9.67e-07)	228			Extracellular (Potential).		Q2M241|Q9P2R0	Silent	SNP	ENST00000290374.4	37	c.682T>C	CCDS10040.1																																																																																				PASS	0.473	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			34	5	34	5	---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48460929	48460929	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr15:48460929C>A	ENST00000324324.7	-	2	548	c.269G>T	c.(268-270)gGc>gTc	p.G90V	MYEF2_ENST00000267836.6_Missense_Mutation_p.G90V	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	90					myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G90V(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTCTCCAGCGCCCGAATTCTT	0.363																																						uc001zwi.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(268-270)GGC>GTC		myelin expression factor 2							181.0	171.0	174.0					15																	48460929		2197	4297	6494	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48460929C>A	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.269G>T	15.37:g.48460929C>A	ENSP00000316950:p.Gly90Val					MYEF2_uc001zwj.3_Missense_Mutation_p.G90V|MYEF2_uc001zwl.2_5'UTR	p.G90V	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	2	393	-		all_lung(180;0.00217)	90					A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.269G>T	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376067	0.24857	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.25414	2.37;1.8	6.08	5.14	0.70334	Nucleotide-binding, alpha-beta plait (1);	0.387565	0.25052	N	0.033515	T	0.27524	0.0676	L	0.54323	1.7	0.80722	D	1	B;B	0.31227	0.314;0.014	B;B	0.23419	0.046;0.013	T	0.03453	-1.1035	10	0.54805	T	0.06	0.2976	17.2179	0.86949	0.0:0.8741:0.1259:0.0	.	90;90	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	V	90	ENSP00000316950:G90V;ENSP00000267836:G90V	ENSP00000267836:G90V	G	-	2	0	MYEF2	46248221	1.000000	0.71417	0.911000	0.35937	0.933000	0.57130	5.752000	0.68728	1.525000	0.49052	0.591000	0.81541	GGC		PASS	0.363	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		48	129	48	129	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51828999	51828999	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr15:51828999T>C	ENST00000251076.5	-	12	1965	c.1678A>G	c.(1678-1680)Aaa>Gaa	p.K560E	DMXL2_ENST00000449909.3_Missense_Mutation_p.K560E|DMXL2_ENST00000543779.2_Missense_Mutation_p.K560E	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	560						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.K560E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATGATATTTTTACTAAGAGAG	0.403																																						uc002abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)	9						c.(1678-1680)AAA>GAA		Dmx-like 2							93.0	84.0	87.0					15																	51828999		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51828999T>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1678A>G	15.37:g.51828999T>C	ENSP00000251076:p.Lys560Glu					DMXL2_uc010ufy.1_Missense_Mutation_p.K560E|DMXL2_uc010bfa.2_Missense_Mutation_p.K560E	p.K560E	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	12	1903	-			560					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.1678A>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.351610	0.41700	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.46451	0.87;0.87;0.87	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	L	0.60455	1.87	0.25688	N	0.985721	D;P;D	0.71674	0.979;0.877;0.998	P;B;D	0.76071	0.671;0.251;0.987	T	0.54443	-0.8293	10	0.28530	T	0.3	.	15.468	0.75419	0.0:0.0:0.0:1.0	.	560;560;560	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	E	560	ENSP00000251076:K560E;ENSP00000441858:K560E;ENSP00000400855:K560E	ENSP00000251076:K560E	K	-	1	0	DMXL2	49616291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.713000	0.61895	2.047000	0.60756	0.533000	0.62120	AAA		PASS	0.403	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		23	58	23	58	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54916021	54916021	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr15:54916021G>T	ENST00000260323.11	+	31	6228	c.6228G>T	c.(6226-6228)caG>caT	p.Q2076H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q2074H|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000545554.1_Missense_Mutation_p.Q2076H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2076	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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.Q2076H(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)		TAAACTGGCAGACCACAGCAA	0.363																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(6226-6228)CAG>CAT		unc-13 homolog C							81.0	76.0	78.0					15																	54916021		1842	4086	5928	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54916021G>T	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.6228G>T	15.37:g.54916021G>T	ENSP00000260323:p.Gln2076His					UNC13C_uc002acm.2_5'UTR	p.Q2076H	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	30	6228	+			2076			C2 2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.6228G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121470	0.37436	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.69561	-0.41;-0.41;-0.41	5.72	2.42	0.29668	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79370	0.4434	M	0.83603	2.65	0.44547	D	0.997507	D	0.71674	0.998	D	0.83275	0.996	T	0.78685	-0.2108	10	0.72032	D	0.01	.	7.4982	0.27503	0.3971:0.0:0.6029:0.0	.	2076	Q8NB66	UN13C_HUMAN	H	2076;2076;2074	ENSP00000260323:Q2076H;ENSP00000438156:Q2076H;ENSP00000442569:Q2074H	ENSP00000260323:Q2076H	Q	+	3	2	UNC13C	52703313	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	1.735000	0.38176	0.783000	0.33636	-1.008000	0.02478	CAG		PASS	0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		29	22	29	22	---	---	---	---
USP3	9960	broad.mit.edu	37	15	63883009	63883009	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr15:63883009G>A	ENST00000380324.3	+	15	1676	c.1547G>A	c.(1546-1548)gGa>gAa	p.G516E	USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.G472E|USP3-AS1_ENST00000561191.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3_ENST00000558285.1_Missense_Mutation_p.G499E|USP3_ENST00000268049.7_Missense_Mutation_p.G494E|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.G427E|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000539772.1_Missense_Mutation_p.G267E|USP3-AS1_ENST00000561256.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	516					DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G516E(1)		endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		GCCAAAGCTGGATCGGATAAA	0.418																																						uc002amf.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1546-1548)GGA>GAA		ubiquitin thiolesterase 3							128.0	113.0	118.0					15																	63883009		2203	4300	6503	SO:0001583	missense	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63883009G>A	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1547G>A	15.37:g.63883009G>A	ENSP00000369681:p.Gly516Glu					USP3_uc002amg.2_Missense_Mutation_p.G431E|USP3_uc002amh.2_Missense_Mutation_p.G494E|USP3_uc010uij.1_Missense_Mutation_p.G472E|USP3_uc010uik.1_Missense_Mutation_p.G267E|USP3_uc010bgs.2_Missense_Mutation_p.G499E|USP3_uc002ami.2_Missense_Mutation_p.G347E|uc002amj.2_Intron|uc002amk.2_Intron|uc002aml.2_Intron	p.G516E	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	15	1676	+			516					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.1547G>A	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547686	0.65311	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772	T;T;T;T	0.30981	2.03;2.14;2.24;1.51	6.07	6.07	0.98685	.	0.253187	0.46758	D	0.000280	T	0.24699	0.0599	L	0.31476	0.935	0.45554	D	0.9985	B;B;B;B	0.32245	0.277;0.181;0.361;0.181	B;B;B;B	0.27380	0.079;0.036;0.051;0.036	T	0.02411	-1.1163	10	0.49607	T	0.09	.	16.051	0.80763	0.0:0.1333:0.8667:0.0	.	472;472;494;516	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	E	472;516;494;267	ENSP00000445828:G472E;ENSP00000369681:G516E;ENSP00000268049:G494E;ENSP00000445642:G267E	ENSP00000268049:G494E	G	+	2	0	USP3	61670062	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.101000	0.57769	2.884000	0.98904	0.655000	0.94253	GGA		PASS	0.418	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			44	145	44	145	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68605181	68605181	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr15:68605181T>C	ENST00000315757.7	-	24	2989	c.2903A>G	c.(2902-2904)tAc>tGc	p.Y968C	ITGA11_ENST00000423218.2_Missense_Mutation_p.Y968C	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	968					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.Y968C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CTTGACCTCGTAGTGGCTCAG	0.617																																						uc002ari.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|pancreas(1)	3						c.(2902-2904)TAC>TGC		integrin, alpha 11 precursor	Tirofiban(DB00775)						66.0	68.0	68.0					15																	68605181		2077	4221	6298	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68605181T>C	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2903A>G	15.37:g.68605181T>C	ENSP00000327290:p.Tyr968Cys					ITGA11_uc010bib.2_Missense_Mutation_p.Y968C	p.Y968C	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			24	2990	-			968			Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.2903A>G	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521908	0.64747	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.48522	0.81;0.81	4.97	2.43	0.29744	Integrin alpha-2 (1);	0.124300	0.56097	D	0.000028	T	0.60625	0.2283	M	0.63843	1.955	0.40716	D	0.982616	D;D	0.71674	0.998;0.992	D;D	0.75484	0.986;0.926	T	0.61372	-0.7076	10	0.62326	D	0.03	.	8.7037	0.34340	0.3133:0.0:0.0:0.6867	.	968;968	A8K8T0;Q9UKX5	.;ITA11_HUMAN	C	968;968;603	ENSP00000327290:Y968C;ENSP00000403392:Y968C	ENSP00000327290:Y968C	Y	-	2	0	ITGA11	66392235	0.995000	0.38212	0.999000	0.59377	0.991000	0.79684	2.511000	0.45476	0.706000	0.31912	0.459000	0.35465	TAC		PASS	0.617	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		11	33	11	33	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84373179	84373179	+	Silent	SNP	C	C	T	rs140402380		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr15:84373179C>T	ENST00000286744.5	+	3	332	c.108C>T	c.(106-108)ccC>ccT	p.P36P	ADAMTSL3_ENST00000567476.1_Silent_p.P36P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	36						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P36P(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTTCCTTCCCGAGTTTGCAC	0.468																																						uc002bjz.3																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(106-108)CCC>CCT		ADAMTS-like 3 precursor		T		0,4406		0,0,2203	190.0	193.0	192.0		108	-6.8	1.0	15	dbSNP_134	192	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTSL3	NM_207517.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		36/1692	84373179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84373179C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.108C>T	15.37:g.84373179C>T						ADAMTSL3_uc002bjy.1_Silent_p.P36P|ADAMTSL3_uc010bmt.1_Silent_p.P36P|ADAMTSL3_uc010bmu.1_Silent_p.P36P	p.P36P	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	332	+			36					A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.108C>T	CCDS10326.1																																																																																				PASS	0.468	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		15	267	15	267	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346017	102346017	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr15:102346017C>T	ENST00000328882.4	+	1	116	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S32L(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCTTTTTCTCAGTGTTCTAT	0.507																																						uc010utr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(94-96)TCA>TTA		olfactory receptor, family 4, subfamily F,							220.0	202.0	208.0					15																	102346017		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346017C>T	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.95C>T	15.37:g.102346017C>T	ENSP00000327525:p.Ser32Leu						p.S32L	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	95	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		32			Helical; Name=1; (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.95C>T	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	4.006	-0.001489	0.07819	.	.	ENSG00000184140	ENST00000328882	T	0.00265	8.39	4.54	1.41	0.22369	.	0.247019	0.28796	N	0.014105	T	0.00073	0.0002	N	0.02721	-0.515	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.05468	-1.0883	10	0.10902	T	0.67	.	8.0228	0.30419	0.0:0.4272:0.48:0.0928	.	32	Q8NGB9	OR4F6_HUMAN	L	32	ENSP00000327525:S32L	ENSP00000327525:S32L	S	+	2	0	OR4F6	100163540	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.126000	0.10563	0.196000	0.20367	0.591000	0.81541	TCA		PASS	0.507	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			93	251	93	251	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2150202	2150202	+	Missense_Mutation	SNP	T	T	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr16:2150202T>G	ENST00000262304.4	-	28	9885	c.9677A>C	c.(9676-9678)aAc>aCc	p.N3226T	PKD1_ENST00000423118.1_Missense_Mutation_p.N3226T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3226	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.N3226T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGGCCCCCGTTGGCCTCCGT	0.657																																						uc002cos.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(9676-9678)AAC>ACC		polycystin 1 isoform 1 precursor							24.0	28.0	27.0					16																	2150202		1497	2675	4172	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2150202T>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9677A>C	16.37:g.2150202T>G	ENSP00000262304:p.Asn3226Thr					PKD1_uc002cot.1_Missense_Mutation_p.N3226T|PKD1_uc010bse.1_RNA	p.N3226T	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			28	9886	-			3226			PLAT.|Cytoplasmic (Potential).		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.9677A>C	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	T	6.314	0.425984	0.11987	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.35605	1.3;1.3	4.84	4.84	0.62591	Lipoxygenase, LH2 (2);	0.264700	0.41823	D	0.000807	T	0.37598	0.1009	N	0.25485	0.75	0.36166	D	0.848454	D;P	0.71674	0.998;0.56	P;B	0.61658	0.892;0.277	T	0.34650	-0.9820	10	0.18710	T	0.47	.	9.1482	0.36946	0.0:0.0813:0.0:0.9187	.	3226;3226	P98161-3;P98161	.;PKD1_HUMAN	T	3226;3226;2561	ENSP00000262304:N3226T;ENSP00000399501:N3226T	ENSP00000262304:N3226T	N	-	2	0	PKD1	2090203	0.988000	0.35896	0.989000	0.46669	0.297000	0.27493	1.972000	0.40540	2.024000	0.59613	0.454000	0.30748	AAC		PASS	0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			30	7	30	7	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4407255	4407255	+	Nonsense_Mutation	SNP	G	G	A	rs142694458		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr16:4407255G>A	ENST00000251166.4	-	26	2744	c.2599C>T	c.(2599-2601)Caa>Taa	p.Q867*	CORO7_ENST00000539968.1_Nonsense_Mutation_p.Q647*|PAM16_ENST00000576217.1_5'Flank|CORO7-PAM16_ENST00000572467.1_Nonsense_Mutation_p.Q867*|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Nonsense_Mutation_p.Q849*|CORO7_ENST00000574025.1_Nonsense_Mutation_p.Q782*	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	867					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.Q867*(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CGGGGGGCTTGGCTCACTGGG	0.562																																						uc002cwh.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2599-2601)CAA>TAA		coronin 7							36.0	34.0	35.0					16																	4407255		2197	4300	6497	SO:0001587	stop_gained	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4407255G>A	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2599C>T	16.37:g.4407255G>A	ENSP00000251166:p.Gln867*					CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Nonsense_Mutation_p.Q867*|CORO7_uc002cwg.3_Nonsense_Mutation_p.Q647*|CORO7_uc010uxh.1_Nonsense_Mutation_p.Q849*|CORO7_uc010uxi.1_Nonsense_Mutation_p.Q782*	p.Q867*	NM_024535	NP_078811	P57737	CORO7_HUMAN			26	2719	-			867					B4DFD6|B4DL18|I3L416|Q17RK4	Nonsense_Mutation	SNP	ENST00000251166.4	37	c.2599C>T	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	G	44	10.755750	0.99462	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	.	.	.	5.19	4.17	0.49024	.	0.554724	0.19030	N	0.124567	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-14.7934	15.2134	0.73244	0.0:0.2091:0.7909:0.0	.	.	.	.	X	867;782;647	.	ENSP00000251166:Q867X	Q	-	1	0	CORO7	4347256	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	3.859000	0.55987	2.435000	0.82474	0.591000	0.81541	CAA		PASS	0.562	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		42	6	42	6	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20373796	20373796	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr16:20373796G>T	ENST00000302451.4	-	10	1594	c.1346C>A	c.(1345-1347)gCa>gAa	p.A449E		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	449	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.A449E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AATGTCATTTGCTGTGACATC	0.488																																						uc002dhc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1345-1347)GCA>GAA		protein disulfide isomerase-like, testis							261.0	191.0	214.0					16																	20373796		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20373796G>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1346C>A	16.37:g.20373796G>T	ENSP00000305465:p.Ala449Glu						p.A449E	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			10	1569	-			449			Thioredoxin.		Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1346C>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715840	0.48622	.	.	ENSG00000169340	ENST00000302451	T	0.12774	2.65	5.0	5.0	0.66597	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	L	0.46670	1.46	0.50813	D	0.999897	D	0.89917	1.0	D	0.83275	0.996	T	0.01105	-1.1450	10	0.66056	D	0.02	.	15.8425	0.78861	0.0:0.0:1.0:0.0	.	449	Q8N807	PDILT_HUMAN	E	449	ENSP00000305465:A449E	ENSP00000305465:A449E	A	-	2	0	PDILT	20281297	1.000000	0.71417	0.344000	0.25628	0.021000	0.10359	6.965000	0.76067	2.601000	0.87937	0.563000	0.77884	GCA		PASS	0.488	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		57	72	57	72	---	---	---	---
HS3ST4	9951	broad.mit.edu	37	16	26147026	26147026	+	Silent	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr16:26147026C>T	ENST00000331351.5	+	2	1220	c.828C>T	c.(826-828)tcC>tcT	p.S276S	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	276					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.S276S(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GCATTCACTCCATGGCCAAGG	0.498																																						uc002dof.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|breast(1)	2						c.(826-828)TCC>TCT		heparan sulfate D-glucosaminyl							127.0	116.0	119.0					16																	26147026		1568	3582	5150	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147026C>T	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.828C>T	16.37:g.26147026C>T							p.S276S	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1220	+			276			Lumenal (Potential).		Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.828C>T	CCDS53995.1																																																																																				PASS	0.498	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		78	97	78	97	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29376097	29376097	+	RNA	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr16:29376097A>G	ENST00000507381.1	+	0	836				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2									p.M128V(2)									CTCTGGGGACATGTTTAAAAA	0.478																																						uc002dsj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(439-441)ATG>GTG		RecName: Full=RUN domain-containing protein 2A;							43.0	51.0	49.0					16																	29376097		2190	4296	6486			440352							g.chr16:29376097A>G	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29376097A>G						uc010vct.1_Intron|RUNDC2C_uc010bys.1_RNA|RUNDC2C_uc010vdo.1_Missense_Mutation_p.M128V	p.M147V	NM_001012391	NP_001012391					5	836	+									Missense_Mutation	SNP	ENST00000507381.1	37	c.439A>G		.	.	.	.	.	.	.	.	.	.	A	0.001	-3.694287	0.00006	.	.	ENSG00000198106	ENST00000398878;ENST00000507381;ENST00000356328	.	.	.	1.53	-2.05	0.07321	.	1.084360	0.06958	N	0.815784	T	0.13157	0.0319	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29181	-1.0020	8	0.02654	T	1	-10.7545	6.6064	0.22727	0.4858:0.0:0.5142:0.0	.	128;147	Q8IUI4;E9PDE2	RUN2B_HUMAN;.	V	128;147;128	.	ENSP00000348682:M128V	M	+	1	0	RUNDC2C	29283598	0.000000	0.05858	0.036000	0.18154	0.126000	0.20510	-0.101000	0.10973	-0.608000	0.05731	-1.731000	0.00696	ATG		PASS	0.478	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	NR_002939		4	113	4	113	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48121987	48121987	+	Nonsense_Mutation	SNP	G	G	T	rs144720520	byFrequency	TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr16:48121987G>T	ENST00000311303.3	-	25	3830	c.3485C>A	c.(3484-3486)tCg>tAg	p.S1162*	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1162	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.S1162*(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CATTCCTAACGATGACTTTCC	0.413																																						uc002efc.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3484-3486)TCG>TAG		ATP-binding cassette protein C12							58.0	50.0	53.0					16																	48121987		2201	4300	6501	SO:0001587	stop_gained	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48121987G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3485C>A	16.37:g.48121987G>T	ENSP00000311030:p.Ser1162*					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.S1162*	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			25	3831	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1162			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	37	c.3485C>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	42	9.208810	0.99101	.	.	ENSG00000140798	ENST00000311303	.	.	.	5.93	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7963	0.63173	0.0744:0.0:0.9256:0.0	.	.	.	.	X	1162	.	ENSP00000311030:S1162X	S	-	2	0	ABCC12	46679488	1.000000	0.71417	0.054000	0.19295	0.110000	0.19582	6.368000	0.73104	1.511000	0.48818	0.655000	0.94253	TCG		PASS	0.413	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		23	23	23	23	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61689506	61689506	+	Missense_Mutation	SNP	A	A	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr16:61689506A>T	ENST00000577390.1	-	11	2728	c.1774T>A	c.(1774-1776)Ttg>Atg	p.L592M	CDH8_ENST00000299345.6_Missense_Mutation_p.L592M|CDH8_ENST00000577730.1_Missense_Mutation_p.L592M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	592	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)|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.L592M(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)		CTGATTGTCAAGGTGCTAGTG	0.468																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1774-1776)TTG>ATG		cadherin 8, type 2 preproprotein							158.0	135.0	143.0					16																	61689506		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.chr16:61689506A>T	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.1774T>A	16.37:g.61689506A>T	ENSP00000462701:p.Leu592Met						p.L592M	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)	11	2026	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	592			Extracellular (Potential).|Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1774T>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.570695	0.65765	.	.	ENSG00000150394	ENST00000299345	T	0.63913	-0.07	5.52	2.46	0.29980	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81583	0.4853	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82010	-0.0669	10	0.59425	D	0.04	.	10.2682	0.43468	0.2151:0.0:0.7849:0.0	.	592	P55286	CADH8_HUMAN	M	592	ENSP00000299345:L592M	ENSP00000299345:L592M	L	-	1	2	CDH8	60247007	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.061000	0.41403	0.291000	0.22468	-0.232000	0.12228	TTG		PASS	0.468	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		56	92	56	92	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65038624	65038624	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr16:65038624C>A	ENST00000268603.4	-	3	764	c.149G>T	c.(148-150)cGc>cTc	p.R50L	CDH11_ENST00000394156.3_Missense_Mutation_p.R50L|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	50					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R50L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACGCTTGGAGCGCTGTAGCAC	0.642			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(148-150)CGC>CTC		cadherin 11, type 2 preproprotein							55.0	44.0	48.0					16																	65038624		2202	4300	6502	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65038624C>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.149G>T	16.37:g.65038624C>A	ENSP00000268603:p.Arg50Leu	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.R50L|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Missense_Mutation_p.R50L	p.R50L	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	3	583	-		Ovarian(137;0.0973)	50					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.149G>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579499	0.96565	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.00584	6.4;6.4	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.02533	0.0077	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.59193	-0.7500	10	0.87932	D	0	.	18.6407	0.91394	0.0:1.0:0.0:0.0	.	50;50	P55287-2;P55287	.;CAD11_HUMAN	L	50	ENSP00000268603:R50L;ENSP00000377711:R50L	ENSP00000268603:R50L	R	-	2	0	CDH11	63596125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.250000	0.78287	2.662000	0.90505	0.591000	0.81541	CGC		PASS	0.642	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		34	28	34	28	---	---	---	---
AARS	16	broad.mit.edu	37	16	70293019	70293019	+	Missense_Mutation	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr16:70293019A>G	ENST00000261772.8	-	14	1999	c.1856T>C	c.(1855-1857)cTt>cCt	p.L619P	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase									p.L619P(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		AGCTTCCCCAAGCACTGAGCG	0.562																																						uc002eyn.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1855-1857)CTT>CCT		alanyl-tRNA synthetase	L-Alanine(DB00160)						178.0	160.0	166.0					16																	70293019		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70293019A>G	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1856T>C	16.37:g.70293019A>G	ENSP00000261772:p.Leu619Pro					AARS_uc010vlu.1_Missense_Mutation_p.L449P	p.L619P	NM_001605	NP_001596	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	14	1966	-		Ovarian(137;0.0365)	619						Missense_Mutation	SNP	ENST00000261772.8	37	c.1856T>C	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714455	0.89112	.	.	ENSG00000090861	ENST00000261772	T	0.73681	-0.77	5.7	5.7	0.88788	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	H	0.99719	4.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.95340	0.8437	10	0.87932	D	0	-15.801	13.9286	0.63978	1.0:0.0:0.0:0.0	.	627;619	E7ETK8;P49588	.;SYAC_HUMAN	P	619	ENSP00000261772:L619P	ENSP00000261772:L619P	L	-	2	0	AARS	68850520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.290000	0.96065	2.172000	0.68678	0.533000	0.62120	CTT		PASS	0.562	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		105	169	105	169	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81161404	81161404	+	RNA	SNP	G	G	A	rs539451747		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr16:81161404G>A	ENST00000534142.1	-	0	699				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGGGACCACGTAGCCTCCTC	0.522																																						uc002fgh.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6310-6312)TAC>TAT		polycystin 1-like 2 isoform a							62.0	61.0	61.0					16																	81161404		2014	4170	6184			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161404G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161404G>A						PKD1L2_uc002fgf.1_Translation_Start_Site|PKD1L2_uc002fgg.1_RNA	p.Y2104Y	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			38	6312	-			2104			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000534142.1	37	c.6312C>T																																																																																					PASS	0.522	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			25	39	25	39	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337L	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(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)	CATCTCGAAGCGCTCACGCCC	0.527		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		29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM012663	TP53	M	rs121912664	c.(1009-1011)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	45.0	49.0					17																	7574017		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574017C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1010G>T	17.37:g.7574017C>A	ENSP00000269305:p.Arg337Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205L|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337L	p.R337L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1204	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1010G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539589	0.45176	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95137	-3.62;-3.62	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.82323	2.585	0.42190	D	0.991726	D	0.65815	0.995	D	0.66716	0.946	D	0.95854	0.8877	10	0.66056	D	0.02	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	L	337;337;326	ENSP00000269305:R337L;ENSP00000391478:R337L	ENSP00000269305:R337L	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC		PASS	0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	8	25	8	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10214458	10214458	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr17:10214458C>T	ENST00000418404.3	-	32	4781	c.4618G>A	c.(4618-4620)Gaa>Aaa	p.E1540K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1540K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1540					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1540K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGACTTTTCCTGCTCCACT	0.473																																						uc002gmk.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(4618-4620)GAA>AAA		myosin, heavy polypeptide 13, skeletal muscle							150.0	140.0	144.0					17																	10214458		1914	4128	6042	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10214458C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4618G>A	17.37:g.10214458C>T	ENSP00000404570:p.Glu1540Lys						p.E1540K	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			33	4708	-			1540			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4618G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964513	0.74131	.	.	ENSG00000006788	ENST00000252172	D	0.86627	-2.15	3.98	3.98	0.46160	Myosin tail (1);	.	.	.	.	D	0.94345	0.8182	H	0.96430	3.82	0.46542	D	0.999099	B	0.20780	0.048	B	0.43575	0.424	D	0.95026	0.8165	9	0.87932	D	0	.	16.6233	0.84935	0.0:1.0:0.0:0.0	.	1540	Q9UKX3	MYH13_HUMAN	K	1540	ENSP00000252172:E1540K	ENSP00000252172:E1540K	E	-	1	0	MYH13	10155183	1.000000	0.71417	0.956000	0.39512	0.786000	0.44442	7.412000	0.80091	2.218000	0.71995	0.462000	0.41574	GAA		PASS	0.473	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		62	10	62	10	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10447295	10447295	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr17:10447295C>A	ENST00000245503.5	-	7	956	c.572G>T	c.(571-573)cGt>cTt	p.R191L	MYH2_ENST00000532183.2_Missense_Mutation_p.R191L|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R191L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	191	Myosin motor.				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.R191L(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						CTGGATGACACGCTTGGTGTT	0.428																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(571-573)CGT>CTT		myosin heavy chain IIa							135.0	123.0	127.0					17																	10447295		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10447295C>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.572G>T	17.37:g.10447295C>A	ENSP00000245503:p.Arg191Leu					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R191L|MYH2_uc010coj.2_Missense_Mutation_p.R191L	p.R191L	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			7	700	-			191			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.572G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.060065	0.55432	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.69040	-0.37;-0.37;-0.37	4.86	4.86	0.63082	Myosin head, motor domain (3);	0.000000	0.40222	U	0.001156	T	0.73721	0.3623	L	0.28694	0.88	0.80722	D	1	D;P	0.60160	0.987;0.578	D;P	0.78314	0.991;0.739	T	0.76785	-0.2831	10	0.66056	D	0.02	.	17.1629	0.86808	0.0:1.0:0.0:0.0	.	191;191	Q567P6;Q9UKX2	.;MYH2_HUMAN	L	191	ENSP00000433944:R191L;ENSP00000245503:R191L;ENSP00000380367:R191L	ENSP00000245503:R191L	R	-	2	0	MYH2	10388020	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.518000	0.84900	0.655000	0.94253	CGT		PASS	0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		61	19	61	19	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35921348	35921348	+	Missense_Mutation	SNP	T	T	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr17:35921348T>G	ENST00000339208.6	-	13	1752	c.1612A>C	c.(1612-1614)Aaa>Caa	p.K538Q	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.K459Q|SYNRG_ENST00000394378.2_Missense_Mutation_p.K460Q|SYNRG_ENST00000346661.4_Missense_Mutation_p.K538Q|SYNRG_ENST00000502449.2_Missense_Mutation_p.K460Q|SYNRG_ENST00000591288.1_Missense_Mutation_p.K377Q|SYNRG_ENST00000345615.4_Missense_Mutation_p.K460Q	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	538	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.K538Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCACTATATTTATCACCAGGA	0.353																																						uc002hoa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1612-1614)AAA>CAA		synergin, gamma isoform 1							82.0	85.0	84.0					17																	35921348		2202	4300	6502	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35921348T>G	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1612A>C	17.37:g.35921348T>G	ENSP00000343610:p.Lys538Gln					SYNRG_uc010wde.1_Missense_Mutation_p.K460Q|SYNRG_uc010wdf.1_Missense_Mutation_p.K460Q|SYNRG_uc002hoc.2_Missense_Mutation_p.K459Q|SYNRG_uc002hoe.2_Missense_Mutation_p.K460Q|SYNRG_uc002hod.2_Missense_Mutation_p.K460Q|SYNRG_uc010wdg.1_Missense_Mutation_p.K377Q|SYNRG_uc002hob.2_Missense_Mutation_p.K538Q|SYNRG_uc002hof.2_Missense_Mutation_p.K250Q|SYNRG_uc010cvd.1_Missense_Mutation_p.K338Q	p.K538Q	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			13	1695	-			538			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.1612A>C	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132154	0.77662	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.55760	1.08;0.5;0.51	5.85	5.85	0.93711	.	0.242600	0.48286	D	0.000192	T	0.65760	0.2722	L	0.59436	1.845	0.54753	D	0.999983	P;D;D;D;D;D	0.65815	0.849;0.995;0.995;0.995;0.992;0.992	P;P;P;P;P;P	0.62560	0.555;0.904;0.904;0.904;0.853;0.853	T	0.63756	-0.6565	10	0.34782	T	0.22	-5.0623	14.7862	0.69806	0.0:0.0:0.0:1.0	.	377;460;460;460;538;538	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	Q	538;377;538;460;460	ENSP00000005279:K538Q;ENSP00000424893:K460Q;ENSP00000377903:K460Q	ENSP00000343610:K377Q	K	-	1	0	SYNRG	32995461	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.154000	0.71826	2.224000	0.72417	0.482000	0.46254	AAA		PASS	0.353	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		52	94	52	94	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44110445	44110445	+	Splice_Site	SNP	C	C	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr17:44110445C>G	ENST00000262419.6	-	13	3308		c.e13+1		KANSL1_ENST00000393476.3_Splice_Site|RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.?(1)									TGCCCCATCACCTGCTGCCCC	0.647																																						uc002ikb.2																			1	Unknown(1)		lung(1)	skin(2)	2						c.e12+1		hypothetical protein LOC284058							22.0	22.0	22.0					17																	44110445		2199	4291	6490	SO:0001630	splice_region_variant	284058					MLL1 complex	protein binding	g.chr17:44110445C>G	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2837+1G>C	17.37:g.44110445C>G						KIAA1267_uc002ikc.2_Splice_Site_p.R946_splice|KIAA1267_uc002ikd.2_Splice_Site_p.R946_splice|KIAA1267_uc010dav.2_Splice_Site_p.R945_splice|KIAA1267_uc010wkb.1_Splice_Site_p.R277_splice|KIAA1267_uc010wkc.1_Splice_Site_p.R214_splice	p.R946_splice	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			12	2922	-		Melanoma(429;0.211)						A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Splice_Site	SNP	ENST00000262419.6	37	c.2837_splice	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548932	0.86127	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8994	0.92435	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1267	41466292	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.158000	0.77470	2.804000	0.96469	0.655000	0.94253	.		PASS	0.647	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443	Intron	6	6	6	6	---	---	---	---
PPP1R9B	84687	broad.mit.edu	37	17	48226576	48226576	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr17:48226576G>A	ENST00000316878.6	-	3	1299	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	433	Interacts with protein phosphatase 1. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)	p.P432S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						GACAGCCCCGGGATCTCCACG	0.711																																						uc002iqh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1303-1305)CCG>TCG		protein phosphatase 1, regulatory subunit 9B							12.0	15.0	14.0					17																	48226576		1904	4111	6015	SO:0001583	missense	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48226576G>A	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1297C>T	17.37:g.48226576G>A	ENSP00000475417:p.Pro433Ser						p.P435S	NM_032595	NP_115984	Q96SB3	NEB2_HUMAN			3	1306	-			433			Interacts with protein phosphatase 1 (By similarity).		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37	c.1303C>T																																																																																					PASS	0.711	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		6	17	6	17	---	---	---	---
GPRC5C	55890	broad.mit.edu	37	17	72443115	72443115	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr17:72443115C>T	ENST00000392627.1	+	4	2535	c.1409C>T	c.(1408-1410)cCg>cTg	p.P470L	GPRC5C_ENST00000342648.5_Missense_Mutation_p.P110L|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.P437L	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	425					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.P470L(1)|p.P437L(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCACACCGCCGAAAGACGGC	0.652																																						uc002jks.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						c.(1273-1275)CCG>CTG		G protein-coupled receptor family C, group 5,							75.0	84.0	81.0					17																	72443115		2203	4300	6503	SO:0001583	missense	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72443115C>T	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1409C>T	17.37:g.72443115C>T	ENSP00000376403:p.Pro470Leu					GPRC5C_uc002jkp.2_Missense_Mutation_p.P470L|GPRC5C_uc002jkq.2_3'UTR|GPRC5C_uc002jkr.2_Missense_Mutation_p.P437L|GPRC5C_uc002jkt.2_Missense_Mutation_p.P425L|GPRC5C_uc002jku.2_Missense_Mutation_p.P180L	p.P425L	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN			3	1313	+			425			Cytoplasmic (Potential).		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1274C>T	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.368362	0.00209	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.16597	2.33	5.2	0.586	0.17434	.	1.038050	0.07598	N	0.923236	T	0.10766	0.0263	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.26975	0.008;0.103;0.103;0.165	B;B;B;B	0.19148	0.012;0.011;0.011;0.024	T	0.33675	-0.9859	10	0.37606	T	0.19	-23.6801	7.0696	0.25171	0.3124:0.5979:0.0:0.0897	.	136;425;425;437	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	L	425;470;136;437;425	ENSP00000376405:P437L	ENSP00000262616:P136L	P	+	2	0	GPRC5C	69954710	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.093000	0.11111	0.337000	0.23665	-0.940000	0.02684	CCG		PASS	0.652	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			69	100	69	100	---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73702489	73702489	+	Missense_Mutation	SNP	T	T	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr17:73702489T>G	ENST00000584667.1	+	11	1072	c.815T>G	c.(814-816)cTc>cGc	p.L272R	SAP30BP_ENST00000355423.3_Missense_Mutation_p.L256R	NM_013260.6	NP_037392.1			SAP30 binding protein									p.L272R(1)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCACCATCCTCACCACCACA	0.557																																						uc002jpe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)CTC>CGC		transcriptional regulator protein							182.0	145.0	157.0					17																	73702489		2203	4300	6503	SO:0001583	missense	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73702489T>G	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.815T>G	17.37:g.73702489T>G	ENSP00000462116:p.Leu272Arg					SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.L256R	p.L272R	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	869	+	all_cancers(13;6.42e-08)		272			Thr-rich.			Missense_Mutation	SNP	ENST00000584667.1	37	c.815T>G	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260896	0.80246	.	.	ENSG00000161526	ENST00000355423;ENST00000293208	.	.	.	5.58	5.58	0.84498	.	0.169680	0.52532	D	0.000061	T	0.59459	0.2195	L	0.46157	1.445	0.58432	D	0.999997	P;D	0.56521	0.919;0.976	P;P	0.51016	0.587;0.656	T	0.55088	-0.8195	9	0.18710	T	0.47	-2.2549	15.765	0.78120	0.0:0.0:0.0:1.0	.	256;272	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	R	272;256	.	ENSP00000293208:L256R	L	+	2	0	SAP30BP	71214084	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.698000	0.84413	2.119000	0.64992	0.528000	0.53228	CTC		PASS	0.557	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		106	199	106	199	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76435203	76435203	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr17:76435203G>T	ENST00000585328.1	-	73	11883	c.11759C>A	c.(11758-11760)gCt>gAt	p.A3920D	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A3911D	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3911	AAA 6. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3920D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTCTCTGCAGCCACGTCCAG	0.562																																						uc010dhp.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(1)	9						c.(2773-2775)GCT>GAT		SubName: Full=DNAH17 variant protein; Flags: Fragment;							74.0	58.0	63.0					17																	76435203		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76435203G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11759C>A	17.37:g.76435203G>T	ENSP00000465516:p.Ala3920Asp					DNAH17_uc002jvq.2_Missense_Mutation_p.A210D|DNAH17_uc002jvs.2_RNA	p.A925D					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		18	2996	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.2774C>A		.	.	.	.	.	.	.	.	.	.	G	20.6	4.021989	0.75275	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.15139	2.45	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000016	T	0.64560	0.2609	H	0.99425	4.56	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.82125	-0.0612	10	0.87932	D	0	.	18.6943	0.91594	0.0:0.0:1.0:0.0	.	3920	E7EUM8	.	D	3920;3911	ENSP00000374490:A3911D	ENSP00000300671:A3920D	A	-	2	0	DNAH17	73946798	1.000000	0.71417	0.940000	0.37924	0.214000	0.24535	9.714000	0.98744	2.502000	0.84385	0.655000	0.94253	GCT		PASS	0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		40	31	40	31	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8825138	8825138	+	Silent	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr18:8825138T>C	ENST00000306329.11	+	13	4587	c.4587T>C	c.(4585-4587)ggT>ggC	p.G1529G	SOGA2_ENST00000359865.3_Silent_p.G1210G|SOGA2_ENST00000306285.7_Silent_p.G535G|SOGA2_ENST00000517570.1_Silent_p.G1169G|SOGA2_ENST00000518815.1_Silent_p.G535G|SOGA2_ENST00000400050.3_Silent_p.G1169G														p.G1210G(1)									CGGCAGGTGGTGAGGGTCCCT	0.677																																						uc002knr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3628-3630)GGT>GGC		hypothetical protein LOC23255							31.0	31.0	31.0					18																	8825138		2186	4275	6461	SO:0001819	synonymous_variant	23255							g.chr18:8825138T>C																												ENST00000306329.11:c.4587T>C	18.37:g.8825138T>C						KIAA0802_uc002knq.2_Silent_p.G1169G|KIAA0802_uc002kns.2_Silent_p.G550G	p.G1210G	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			15	3772	+			1520						Silent	SNP	ENST00000306329.11	37	c.3630T>C																																																																																					PASS	0.677	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			33	12	33	12	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30672775	30672775	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr18:30672775T>C	ENST00000383096.3	-	21	2520	c.2338A>G	c.(2338-2340)Ata>Gta	p.I780V	CCDC178_ENST00000581852.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.I780V|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.I780V|CCDC178_ENST00000403303.1_Missense_Mutation_p.I780V|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.I780V|CCDC178_ENST00000300227.8_Missense_Mutation_p.I742V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	780								p.I742V(1)|p.I780V(1)									TTATCATATATATTGAAATAA	0.284																																						uc002kxn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2338-2340)ATA>GTA		hypothetical protein LOC374864 isoform 1							48.0	53.0	51.0					18																	30672775		2200	4281	6481	SO:0001583	missense	374864							g.chr18:30672775T>C	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2338A>G	18.37:g.30672775T>C	ENSP00000372576:p.Ile780Val					C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc010xbr.1_Missense_Mutation_p.I780V|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I742V|C18orf34_uc002kxp.2_Missense_Mutation_p.I780V	p.I780V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			20	2480	-			780					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.2338A>G	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	1.009	-0.688613	0.03328	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524	T;T;T;T	0.13901	2.58;2.58;2.58;2.55	5.84	-3.65	0.04502	.	.	.	.	.	T	0.06005	0.0156	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.005;0.005	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.44390	-0.9331	9	0.05351	T	0.99	1.9679	4.9259	0.13892	0.0655:0.2151:0.2886:0.4308	.	780;780;742;780	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	V	780;780;742;780	ENSP00000385591:I780V;ENSP00000372576:I780V;ENSP00000300227:I742V;ENSP00000385867:I780V	ENSP00000300227:I742V	I	-	1	0	C18orf34	28926773	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-3.480000	0.00457	-0.296000	0.08947	-0.340000	0.08031	ATA		PASS	0.284	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		68	12	68	12	---	---	---	---
CELF4	56853	broad.mit.edu	37	18	34850747	34850747	+	Silent	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr18:34850747G>A	ENST00000591282.1	-	8	1082	c.1083C>T	c.(1081-1083)ggC>ggT	p.G361G	CELF4_ENST00000420428.2_Silent_p.G361G|CELF4_ENST00000601019.1_Silent_p.G359G|CELF4_ENST00000591287.1_Silent_p.G360G|CELF4_ENST00000361795.5_Silent_p.G359G|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000588597.1_Silent_p.G350G|CELF4_ENST00000412753.1_Silent_p.G360G|CELF4_ENST00000603232.1_Silent_p.G360G|CELF4_ENST00000334919.5_Silent_p.G351G			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	361					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.G361G(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGGGGTGGATGCCATTGGCGA	0.557																																						uc002lae.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1081-1083)GGC>GGT		bruno-like 4, RNA binding protein isoform 1							105.0	87.0	93.0					18																	34850747		2203	4300	6503	SO:0001819	synonymous_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34850747G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1083C>T	18.37:g.34850747G>A						CELF4_uc010dnd.1_Silent_p.G359G|CELF4_uc002lag.2_Silent_p.G351G|CELF4_uc002laf.2_Silent_p.G356G|CELF4_uc002lai.2_Silent_p.G346G|CELF4_uc002lah.1_Silent_p.G86G	p.G361G	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			8	1479	-			361					Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	c.1083C>T	CCDS32818.1																																																																																				PASS	0.557	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		59	15	59	15	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59195329	59195329	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr18:59195329G>T	ENST00000262717.4	+	7	1545	c.1147G>T	c.(1147-1149)Gtg>Ttg	p.V383L	CDH20_ENST00000538374.1_Missense_Mutation_p.V383L|CDH20_ENST00000536675.2_Missense_Mutation_p.V383L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	383	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.V383L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGTGGAAGACGTGGACGAGCC	0.512																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1147-1149)GTG>TTG		cadherin 20, type 2 preproprotein							154.0	147.0	150.0					18																	59195329		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59195329G>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1147G>T	18.37:g.59195329G>T	ENSP00000262717:p.Val383Leu					CDH20_uc002lif.2_Missense_Mutation_p.V377L	p.V383L	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			6	1159	+		Colorectal(73;0.186)	383			Extracellular (Potential).|Cadherin 3.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1147G>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776470	0.70107	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.44083	0.93;0.93;0.93	5.88	5.88	0.94601	Cadherin (3);Cadherin-like (1);	0.118192	0.56097	D	0.000028	T	0.51822	0.1697	M	0.79011	2.435	0.80722	D	1	B	0.17852	0.024	B	0.22152	0.038	T	0.50996	-0.8761	10	0.72032	D	0.01	.	20.2884	0.98536	0.0:0.0:1.0:0.0	.	383	Q9HBT6	CAD20_HUMAN	L	383	ENSP00000444767:V383L;ENSP00000442226:V383L;ENSP00000262717:V383L	ENSP00000262717:V383L	V	+	1	0	CDH20	57346309	1.000000	0.71417	0.992000	0.48379	0.761000	0.43186	9.476000	0.97823	2.791000	0.96007	0.650000	0.86243	GTG		PASS	0.512	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		86	24	86	24	---	---	---	---
CD226	10666	broad.mit.edu	37	18	67563044	67563044	+	Missense_Mutation	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr18:67563044A>G	ENST00000280200.4	-	4	888	c.620T>C	c.(619-621)aTc>aCc	p.I207T	CD226_ENST00000582621.1_Missense_Mutation_p.I207T|CD226_ENST00000577287.1_Missense_Mutation_p.I52T|CD226_ENST00000581982.1_Missense_Mutation_p.I52T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	207	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.I207T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GGGGATGACGATGACGCTCCA	0.512																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(619-621)ATC>ACC		CD226 molecule precursor							135.0	120.0	125.0					18																	67563044		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67563044A>G	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.620T>C	18.37:g.67563044A>G	ENSP00000280200:p.Ile207Thr					CD226_uc002lkm.3_Missense_Mutation_p.I207T	p.I207T	NM_006566	NP_006557	Q15762	CD226_HUMAN			3	1067	-		Esophageal squamous(42;0.129)	207			Ig-like C2-type 2.|Extracellular (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.620T>C	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	A	9.117	1.008014	0.19199	.	.	ENSG00000150637	ENST00000280200	T	0.23754	1.89	4.82	4.82	0.62117	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.792880	0.00531	N	0.000218	T	0.46092	0.1375	M	0.62723	1.935	0.09310	N	1	P	0.49185	0.92	P	0.53313	0.723	T	0.29882	-0.9997	10	0.72032	D	0.01	.	10.9508	0.47327	1.0:0.0:0.0:0.0	.	207	Q15762	CD226_HUMAN	T	207	ENSP00000280200:I207T	ENSP00000280200:I207T	I	-	2	0	CD226	65714024	0.044000	0.20184	0.004000	0.12327	0.009000	0.06853	4.041000	0.57339	2.146000	0.66826	0.528000	0.53228	ATC		PASS	0.512	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		74	19	74	19	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1056426	1056426	+	Missense_Mutation	SNP	G	G	T	rs113269196	byFrequency	TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:1056426G>T	ENST00000263094.6	+	33	4745	c.4514G>T	c.(4513-4515)cGc>cTc	p.R1505L	ABCA7_ENST00000435683.2_Missense_Mutation_p.R1367L|ABCA7_ENST00000433129.1_Missense_Mutation_p.R1505L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1505					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.R1505L(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)		GGCCCGGCCCGCCACGCCCAC	0.612																																						uc002lqw.3																			1	Substitution - Missense(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(4513-4515)CGC>CTC		ATP-binding cassette, sub-family A, member 7							123.0	104.0	111.0					19																	1056426		2203	4300	6503	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.chr19:1056426G>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.4514G>T	19.37:g.1056426G>T	ENSP00000263094:p.Arg1505Leu					ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank	p.R1505L	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	4745	+		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)	1505			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4514G>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	6.790	0.514674	0.12944	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86497	-2.13;-2.13	3.76	-3.6	0.04570	.	.	.	.	.	T	0.73110	0.3545	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.15052	0.012	T	0.58025	-0.7709	9	0.38643	T	0.18	.	5.5765	0.17227	0.4802:0.2634:0.2563:0.0	.	1505	Q8IZY2	ABCA7_HUMAN	L	1505	ENSP00000263094:R1505L;ENSP00000414062:R1505L	ENSP00000263094:R1505L	R	+	2	0	ABCA7	1007426	0.000000	0.05858	0.027000	0.17364	0.028000	0.11728	-0.814000	0.04486	-0.308000	0.08792	0.555000	0.69702	CGC		PASS	0.612	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		12	19	12	19	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6854071	6854071	+	Missense_Mutation	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:6854071G>C	ENST00000602142.1	+	26	2528	c.2446G>C	c.(2446-2448)Gga>Cga	p.G816R	VAV1_ENST00000596764.1_Missense_Mutation_p.G784R|VAV1_ENST00000304076.2_Missense_Mutation_p.G794R|VAV1_ENST00000599806.1_Missense_Mutation_p.G761R|VAV1_ENST00000539284.1_Missense_Mutation_p.G719R	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	816	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G816R(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TAACAAGAAGGGACAGCAAGG	0.602																																						uc002mfu.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(2446-2448)GGA>CGA		vav 1 guanine nucleotide exchange factor							100.0	87.0	92.0					19																	6854071		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6854071G>C		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2446G>C	19.37:g.6854071G>C	ENSP00000472929:p.Gly816Arg					VAV1_uc010xjh.1_Missense_Mutation_p.G784R|VAV1_uc010dva.1_Missense_Mutation_p.G794R|VAV1_uc002mfv.1_Missense_Mutation_p.G761R	p.G816R	NM_005428	NP_005419	P15498	VAV_HUMAN			26	2543	+			816			SH3 2.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.2446G>C	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510569	0.85389	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T	0.49139	0.79	4.35	4.35	0.52113	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	L	0.39147	1.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	0.998;1.0;0.993;0.996	T	0.63466	-0.6631	10	0.87932	D	0	.	14.4087	0.67101	0.0:0.0:1.0:0.0	.	719;816;761;816	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	R	816;719	ENSP00000443242:G719R	ENSP00000302269:G816R	G	+	1	0	VAV1	6805071	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	6.433000	0.73404	2.278000	0.76064	0.561000	0.74099	GGA		PASS	0.602	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			60	46	60	46	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9061509	9061509	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:9061509G>T	ENST00000397910.4	-	3	26140	c.25937C>A	c.(25936-25938)cCt>cAt	p.P8646H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8648	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.P8646H(2)|p.P4279H(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						ATTGACTACAGGTGTGTTTGA	0.438																																						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.(25936-25938)CCT>CAT		mucin 16							158.0	143.0	148.0					19																	9061509		1901	4125	6026	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061509G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25937C>A	19.37:g.9061509G>T	ENSP00000381008:p.Pro8646His						p.P8646H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	26141	-			8648			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25937C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	2.458	-0.324713	0.05350	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	2.13	-0.24	0.13047	.	.	.	.	.	T	0.12817	0.0311	N	0.08118	0	.	.	.	D	0.53462	0.96	P	0.50162	0.633	T	0.18241	-1.0343	8	0.87932	D	0	.	3.439	0.07457	0.1682:0.2685:0.5633:0.0	.	8646	B5ME49	.	H	8646	ENSP00000381008:P8646H	ENSP00000381008:P8646H	P	-	2	0	MUC16	8922509	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.561000	0.05957	0.029000	0.15352	0.387000	0.25754	CCT		PASS	0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	81	15	81	---	---	---	---
PDE4A	5141	broad.mit.edu	37	19	10572296	10572296	+	Silent	SNP	C	C	T	rs200647370		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:10572296C>T	ENST00000352831.6	+	12	1670	c.1560C>T	c.(1558-1560)gaC>gaT	p.D520D	PDE4A_ENST00000293683.5_Silent_p.D494D|PDE4A_ENST00000440014.2_Silent_p.D459D|PDE4A_ENST00000344979.3_Silent_p.D281D|PDE4A_ENST00000592685.1_Silent_p.D498D|PDE4A_ENST00000380702.2_Silent_p.D498D	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	520	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.D281D(1)|p.D494D(1)|p.D459D(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	ACAACTGCGACATCTTCCAGA	0.622																																						uc002moj.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1558-1560)GAC>GAT		phosphodiesterase 4A isoform 1	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						70.0	64.0	66.0					19																	10572296		2203	4300	6503	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10572296C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1560C>T	19.37:g.10572296C>T						PDE4A_uc002mok.2_Silent_p.D494D|PDE4A_uc002mol.2_Silent_p.D459D|PDE4A_uc002mom.2_Silent_p.D281D|PDE4A_uc002mon.2_5'UTR|PDE4A_uc002moo.2_Silent_p.D186D	p.D520D	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		12	1668	+			520			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.1560C>T	CCDS45961.1																																																																																				PASS	0.622	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			26	60	26	60	---	---	---	---
ZNF625	90589	broad.mit.edu	37	19	12256966	12256966	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:12256966C>A	ENST00000355738.1	-	4	416	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	CTC-359D24.3_ENST00000472362.1_RNA|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000542938.1_Missense_Mutation_p.D23Y|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Missense_Mutation_p.D89Y			Q96I27	ZN625_HUMAN	zinc finger protein 625	23					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.D89Y(1)|p.D23Y(1)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AGCATGTCATCTGGAACCTGG	0.433																																						uc002mth.2																			2	Substitution - Missense(2)		lung(2)		0						c.(67-69)GAT>TAT		zinc finger protein 625							68.0	68.0	68.0					19																	12256966		2203	4300	6503	SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256966C>A	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.67G>T	19.37:g.12256966C>A	ENSP00000347977:p.Asp23Tyr					ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.D57Y	p.D23Y	NM_145233	NP_660276	Q96I27	ZN625_HUMAN			4	417	-			23					A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.67G>T		.	.	.	.	.	.	.	.	.	.	C	10.44	1.349874	0.24426	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.08896	3.04;3.04;3.22	0.856	-0.284	0.12870	.	.	.	.	.	T	0.13500	0.0327	L	0.29908	0.895	0.09310	N	1	B;D	0.89917	0.133;1.0	B;D	0.77557	0.013;0.99	T	0.19844	-1.0293	9	0.87932	D	0	.	4.3654	0.11222	0.0:0.6107:0.0:0.3893	.	23;23	A8K8U0;Q96I27	.;ZN625_HUMAN	Y	23;23;89	ENSP00000438436:D23Y;ENSP00000347977:D23Y;ENSP00000394380:D89Y	ENSP00000347977:D23Y	D	-	1	0	AC022415.5	12117966	0.001000	0.12720	0.020000	0.16555	0.257000	0.26127	-0.857000	0.04286	-0.132000	0.11557	0.313000	0.20887	GAT		PASS	0.433	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		45	45	45	45	---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12816128	12816128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:12816128C>A	ENST00000592287.1	-	17	2056	c.1948G>T	c.(1948-1950)Gag>Tag	p.E650*	TNPO2_ENST00000450764.2_Nonsense_Mutation_p.E650*|TNPO2_ENST00000356861.5_Nonsense_Mutation_p.E650*|TNPO2_ENST00000588216.1_Nonsense_Mutation_p.E650*|TNPO2_ENST00000425528.1_Nonsense_Mutation_p.E650*|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000441499.1_Nonsense_Mutation_p.E650*	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	650					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.E650*(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAGGCCCTCGGCCAGGCCG	0.602																																						uc002muo.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1948-1950)GAG>TAG		transportin 2 (importin 3, karyopherin beta 2b)							26.0	28.0	28.0					19																	12816128		2151	4253	6404	SO:0001587	stop_gained	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12816128C>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1948G>T	19.37:g.12816128C>A	ENSP00000468434:p.Glu650*					TNPO2_uc002mup.2_Nonsense_Mutation_p.E742*|TNPO2_uc002muq.2_Nonsense_Mutation_p.E650*|TNPO2_uc002mur.2_Nonsense_Mutation_p.E650*	p.E650*	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			17	2133	-			650					O14655|Q6IN77	Nonsense_Mutation	SNP	ENST00000592287.1	37	c.1948G>T	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	37	6.086734	0.97271	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-20.3413	18.4706	0.90773	0.0:1.0:0.0:0.0	.	.	.	.	X	814;650;650;650;650;650;650	.	ENSP00000349321:E650X	E	-	1	0	TNPO2	12677128	1.000000	0.71417	0.994000	0.49952	0.109000	0.19521	7.461000	0.80834	2.654000	0.90174	0.563000	0.77884	GAG		PASS	0.602	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		6	7	6	7	---	---	---	---
NANOS3	342977	broad.mit.edu	37	19	13988533	13988533	+	Silent	SNP	G	G	A	rs557519241		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:13988533G>A	ENST00000397555.2	+	2	414	c.414G>A	c.(412-414)gcG>gcA	p.A138A	MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000339133.5_Silent_p.A157A|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	138					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A157A(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CTGACAAGGCGAAGACACAGG	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14247	0.0		0.0	False		,,,				2504	0.0					uc002mxj.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(469-471)GCG>GCA		nanos homolog 3							10.0	12.0	11.0					19																	13988533		2091	4171	6262	SO:0001819	synonymous_variant	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988533G>A	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.414G>A	19.37:g.13988533G>A							p.A157A	NM_001098622	NP_001092092	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		1	584	+			138					Q495E5	Silent	SNP	ENST00000397555.2	37	c.471G>A																																																																																					PASS	0.667	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		3	9	3	9	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38942422	38942422	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:38942422G>T	ENST00000359596.3	+	12	1141	c.1141G>T	c.(1141-1143)Ggc>Tgc	p.G381C	RYR1_ENST00000360985.3_Missense_Mutation_p.G381C|RYR1_ENST00000355481.4_Missense_Mutation_p.G381C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	381	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.G381C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCACCAGGAGGGCCACATGGA	0.627																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(1141-1143)GGC>TGC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						78.0	65.0	69.0					19																	38942422		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38942422G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1141G>T	19.37:g.38942422G>T	ENSP00000352608:p.Gly381Cys					RYR1_uc002oiu.2_Missense_Mutation_p.G381C	p.G381C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		12	1271	+	all_cancers(60;7.91e-06)		381			Cytoplasmic.|MIR 5.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1141G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270537	0.59540	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91996	-2.95;-2.95;-2.95	4.07	4.07	0.47477	MIR motif (1);MIR (2);	0.000000	0.64402	U	0.000002	D	0.96122	0.8736	M	0.84683	2.71	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96866	0.9636	10	0.87932	D	0	.	15.1829	0.72975	0.0:0.0:1.0:0.0	.	381;381	P21817-2;P21817	.;RYR1_HUMAN	C	381	ENSP00000352608:G381C;ENSP00000347667:G381C;ENSP00000354254:G381C	ENSP00000347667:G381C	G	+	1	0	RYR1	43634262	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.228000	0.95250	2.107000	0.64212	0.609000	0.83330	GGC		PASS	0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			49	108	49	108	---	---	---	---
LRFN1	57622	broad.mit.edu	37	19	39805146	39805146	+	Silent	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:39805146C>T	ENST00000248668.4	-	1	830	c.831G>A	c.(829-831)acG>acA	p.T277T	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	277	LRRCT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T229T(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGTTCGGGCGTGGCGCAGG	0.697																																						uc002okw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(829-831)ACG>ACA		leucine rich repeat and fibronectin type III							25.0	32.0	30.0					19																	39805146		2187	4284	6471	SO:0001819	synonymous_variant	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805146C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.831G>A	19.37:g.39805146C>T							p.T277T	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	831	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		277			LRRCT.|Extracellular (Potential).		Q8TBS9	Silent	SNP	ENST00000248668.4	37	c.831G>A	CCDS46071.1																																																																																				PASS	0.697	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		3	7	3	7	---	---	---	---
ZNF234	10780	broad.mit.edu	37	19	44661166	44661166	+	Missense_Mutation	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:44661166A>G	ENST00000426739.2	+	6	1255	c.997A>G	c.(997-999)Atc>Gtc	p.I333V	ZNF234_ENST00000592437.1_Missense_Mutation_p.I333V	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	333					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.I333V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAACCTTCGTATCCATCAAAG	0.428																																						uc002oym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(997-999)ATC>GTC		zinc finger protein 234							72.0	80.0	77.0					19																	44661166		2191	4297	6488	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661166A>G	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.997A>G	19.37:g.44661166A>G	ENSP00000400878:p.Ile333Val					ZNF234_uc002oyl.3_Missense_Mutation_p.I333V	p.I333V	NM_006630	NP_006621	Q14588	ZN234_HUMAN			6	1304	+		Prostate(69;0.0435)	333			C2H2-type 7.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.997A>G	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	A	8.830	0.939732	0.18281	.	.	ENSG00000167380	ENST00000426739	T	0.17528	2.27	4.02	-1.17	0.09648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15739	0.0379	N	0.05608	-0.01	0.09310	N	1	D	0.65815	0.995	D	0.79108	0.992	T	0.25257	-1.0137	9	0.27082	T	0.32	.	5.3896	0.16237	0.3285:0.3845:0.287:0.0	.	333	Q14588	ZN234_HUMAN	V	333	ENSP00000400878:I333V	ENSP00000400878:I333V	I	+	1	0	ZNF226	49353006	0.000000	0.05858	0.000000	0.03702	0.996000	0.88848	-2.994000	0.00656	-0.093000	0.12396	0.482000	0.46254	ATC		PASS	0.428	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			39	60	39	60	---	---	---	---
SYNGR4	23546	broad.mit.edu	37	19	48878904	48878904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr19:48878904C>A	ENST00000344846.2	+	4	616	c.366C>A	c.(364-366)tgC>tgA	p.C122*	SYNGR4_ENST00000601610.1_Nonsense_Mutation_p.C73*|SYNGR4_ENST00000595322.1_Intron	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	122	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)		p.C122*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TGGGTTTCTGCTTCCTGGCCA	0.592																																						uc002piz.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(364-366)TGC>TGA		synaptogyrin 4							98.0	89.0	92.0					19																	48878904		2203	4300	6503	SO:0001587	stop_gained	23546					integral to membrane		g.chr19:48878904C>A	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.366C>A	19.37:g.48878904C>A	ENSP00000344041:p.Cys122*						p.C122*	NM_012451	NP_036583	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	4	611	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	122			MARVEL.|Helical; (Potential).		Q3KP58	Nonsense_Mutation	SNP	ENST00000344846.2	37	c.366C>A	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565866	0.96540	.	.	ENSG00000105467	ENST00000344846	.	.	.	4.64	3.61	0.41365	.	0.086629	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3595	8.9161	0.35583	0.0:0.844:0.0:0.156	.	.	.	.	X	122	.	ENSP00000344041:C122X	C	+	3	2	SYNGR4	53570716	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	0.409000	0.21082	2.580000	0.87095	0.555000	0.69702	TGC		PASS	0.592	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			95	81	95	81	---	---	---	---
VPS16	64601	broad.mit.edu	37	20	2843947	2843947	+	Missense_Mutation	SNP	G	G	C	rs200180667		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr20:2843947G>C	ENST00000380445.3	+	15	1451	c.1379G>C	c.(1378-1380)cGg>cCg	p.R460P	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.R316P|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_Missense_Mutation_p.R146P	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	460					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.R460P(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCGTGTTGCGGAGACTTTAC	0.597																																						uc002whe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1378-1380)CGG>CCG		vacuolar protein sorting 16 isoform 1							100.0	88.0	92.0					20																	2843947		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2843947G>C	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1379G>C	20.37:g.2843947G>C	ENSP00000369810:p.Arg460Pro					VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.R316P|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.R146P|VPS16_uc002whi.2_5'Flank	p.R460P	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			15	1427	+			460					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1379G>C	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514179	0.85389	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000380443	T;T;T	0.57595	0.43;0.47;0.39	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.84164	0.0430	10	0.87932	D	0	-21.2047	15.1055	0.72319	0.0:0.0:1.0:0.0	.	146;316;460	Q5JUA8;Q9H269-2;Q9H269	.;.;VPS16_HUMAN	P	460;316;198;146	ENSP00000369810:R460P;ENSP00000369836:R316P;ENSP00000369808:R146P	ENSP00000369808:R146P	R	+	2	0	VPS16	2791947	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.731000	0.91529	2.426000	0.82243	0.561000	0.74099	CGG		PASS	0.597	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		90	100	90	100	---	---	---	---
TMX4	56255	broad.mit.edu	37	20	7980436	7980436	+	Missense_Mutation	SNP	T	T	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr20:7980436T>A	ENST00000246024.2	-	4	625	c.410A>T	c.(409-411)gAg>gTg	p.E137V	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	137	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.E137V(1)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CCATTTCTTCTCTAAGATATA	0.408																																						uc002wmx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)GAG>GTG		thioredoxin-related transmembrane protein 4							56.0	59.0	58.0					20																	7980436		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7980436T>A		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.410A>T	20.37:g.7980436T>A	ENSP00000246024:p.Glu137Val						p.E137V	NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN			4	543	-			137			Thioredoxin.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.410A>T	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.499211	0.85069	.	.	ENSG00000125827	ENST00000246024;ENST00000527925	T;T	0.44083	0.93;0.93	5.74	5.74	0.90152	Thioredoxin-like fold (2);	0.209202	0.41396	D	0.000899	T	0.67692	0.2920	M	0.87456	2.885	0.41263	D	0.98679	D	0.61697	0.99	D	0.64410	0.925	T	0.74639	-0.3598	10	0.72032	D	0.01	-20.0498	15.0312	0.71708	0.0:0.0:0.0:1.0	.	137	Q9H1E5	TMX4_HUMAN	V	137;109	ENSP00000246024:E137V;ENSP00000435735:E109V	ENSP00000246024:E137V	E	-	2	0	TMX4	7928436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.140000	0.58031	2.183000	0.69458	0.533000	0.62120	GAG		PASS	0.408	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		63	35	63	35	---	---	---	---
TOX2	84969	broad.mit.edu	37	20	42683148	42683148	+	Silent	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr20:42683148G>T	ENST00000358131.5	+	5	1096	c.888G>T	c.(886-888)ctG>ctT	p.L296L	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Silent_p.L245L|TOX2_ENST00000423191.2_Silent_p.L245L|TOX2_ENST00000341197.4_Silent_p.L287L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	296					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L245L(1)|p.L296L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGGACAGCCTGGGAGAGGAAC	0.562																																						uc002xlf.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(886-888)CTG>CTT		TOX high mobility group box family member 2							53.0	47.0	49.0					20																	42683148		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42683148G>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.888G>T	20.37:g.42683148G>T						TOX2_uc010ggo.2_Silent_p.L287L|TOX2_uc002xle.3_Silent_p.L245L|TOX2_uc010ggp.2_Silent_p.L245L|TOX2_uc002xlg.2_Silent_p.L245L|TOX2_uc010zwk.1_Silent_p.L165L	p.L296L	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	905	+		Myeloproliferative disorder(115;0.00452)	296			HMG box.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.888G>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912740	0.52439	.	.	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.44	4.49	0.54785	.	.	.	.	.	T	0.59595	0.2205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57219	-0.7849	4	.	.	.	.	9.1542	0.36983	0.0773:0.1458:0.7769:0.0	.	.	.	.	L	53	.	.	W	+	2	0	TOX2	42116562	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.326000	0.43849	1.299000	0.44798	0.650000	0.86243	TGG		PASS	0.562	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			27	22	27	22	---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44640921	44640921	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr20:44640921C>A	ENST00000372330.3	+	7	1162	c.1143C>A	c.(1141-1143)agC>agA	p.S381R	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	381	Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S381R(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	ACTTTGACAGCGACAAGAAGT	0.662																																						uc002xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1141-1143)AGC>AGA		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						57.0	68.0	64.0					20																	44640921		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44640921C>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1143C>A	20.37:g.44640921C>A	ENSP00000361405:p.Ser381Arg						p.S381R	NM_004994	NP_004985	P14780	MMP9_HUMAN			7	1162	+		Myeloproliferative disorder(115;0.0122)	381			Fibronectin type-II 3.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1143C>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	5.284	0.237822	0.10023	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.47869	0.83	5.04	-10.1	0.00402	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	1.679880	0.02373	N	0.078046	T	0.11965	0.0291	N	0.00514	-1.41	0.09310	N	0.99999	B	0.13145	0.007	B	0.10450	0.005	T	0.26430	-1.0103	10	0.24483	T	0.36	.	2.6056	0.04878	0.4309:0.2449:0.07:0.2542	.	381	P14780	MMP9_HUMAN	R	381;26	ENSP00000361405:S381R	ENSP00000361405:S381R	S	+	3	2	MMP9	44074328	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	-4.031000	0.00309	-2.382000	0.00593	-1.367000	0.01198	AGC		PASS	0.662	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			88	101	88	101	---	---	---	---
NTSR1	4923	broad.mit.edu	37	20	61386239	61386239	+	Splice_Site	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr20:61386239G>C	ENST00000370501.3	+	2	1287		c.e2+1			NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)						adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGCGTCCTACGTACGTAACCT	0.662																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.2																			2	Unknown(2)		lung(1)|endometrium(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.e2+1		neurotensin receptor 1							29.0	24.0	25.0					20																	61386239		2195	4294	6489	SO:0001630	splice_region_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386239G>C		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.916+1G>C	20.37:g.61386239G>C							p.R306_splice	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1287	+	Breast(26;3.65e-08)							Q9H4H1|Q9H4T5	Splice_Site	SNP	ENST00000370501.3	37	c.916_splice	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	g	12.43	1.935929	0.34189	.	.	ENSG00000101188	ENST00000370501	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4738	0.84125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTSR1	60856684	1.000000	0.71417	0.936000	0.37596	0.107000	0.19398	8.163000	0.89659	1.940000	0.56252	0.306000	0.20318	.		PASS	0.662	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1		Intron	9	24	9	24	---	---	---	---
BIRC7	79444	broad.mit.edu	37	20	61869312	61869312	+	Missense_Mutation	SNP	G	G	A	rs371804670		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr20:61869312G>A	ENST00000217169.3	+	2	621	c.407G>A	c.(406-408)cGc>cAc	p.R136H	BIRC7_ENST00000342412.6_Missense_Mutation_p.R136H|BIRC7_ENST00000395306.1_5'Flank|MIR3196_ENST00000579556.1_RNA	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	136					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R136H(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					AGCTGGAAGCGCGGGGACGAC	0.682																																						uc002yej.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(406-408)CGC>CAC		livin inhibitor of apoptosis isoform alpha		G	HIS/ARG,HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	40.0	41.0	41.0		407,407	-10.3	0.0	20		41	0,8598		0,0,4299	no	missense,missense	BIRC7	NM_022161.2,NM_139317.1	29,29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	136/281,136/299	61869312	1,12997	2200	4299	6499	SO:0001583	missense	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61869312G>A	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.407G>A	20.37:g.61869312G>A	ENSP00000217169:p.Arg136His					BIRC7_uc010gkc.1_Missense_Mutation_p.R136H|BIRC7_uc002yei.2_Missense_Mutation_p.R136H|hsa-mir-3196|MI0014241_5'Flank	p.R136H	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN			2	580	+	all_cancers(38;2.72e-09)		136			BIR.		Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.407G>A	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	7.934	0.741213	0.15642	2.27E-4	0.0	ENSG00000101197	ENST00000342412;ENST00000217169	T;T	0.72725	-0.68;-0.68	5.16	-10.3	0.00346	Baculoviral inhibition of apoptosis protein repeat (5);	0.820683	0.10238	N	0.698819	T	0.55178	0.1904	L	0.58669	1.825	0.24484	N	0.994336	B;B;B	0.16603	0.018;0.011;0.004	B;B;B	0.13407	0.004;0.009;0.004	T	0.37244	-0.9714	10	0.49607	T	0.09	.	5.3928	0.16253	0.5265:0.241:0.1513:0.0812	.	136;136;136	Q6R308;Q96CA5;Q96CA5-2	.;BIRC7_HUMAN;.	H	136	ENSP00000345213:R136H;ENSP00000217169:R136H	ENSP00000217169:R136H	R	+	2	0	BIRC7	61339757	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-1.155000	0.03163	-2.743000	0.00378	-1.099000	0.02127	CGC		PASS	0.682	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		33	25	33	25	---	---	---	---
CHRNA4	1137	broad.mit.edu	37	20	61981226	61981226	+	Missense_Mutation	SNP	G	G	T	rs201864944		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr20:61981226G>T	ENST00000370263.4	-	5	1758	c.1537C>A	c.(1537-1539)Cgc>Agc	p.R513S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	513					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.R513S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGGGTGTTGCGAGAGGCCAGG	0.687																																						uc002yes.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1537-1539)CGC>AGC		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						23.0	24.0	23.0					20																	61981226		2189	4292	6481	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981226G>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1537C>A	20.37:g.61981226G>T	ENSP00000359285:p.Arg513Ser					CHRNA4_uc002yet.1_Missense_Mutation_p.R337S|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.R442S|CHRNA4_uc002yev.1_Missense_Mutation_p.R337S|CHRNA4_uc010gkf.1_Missense_Mutation_p.R337S	p.R513S	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	1715	-	all_cancers(38;1.71e-10)		513			Cytoplasmic (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1537C>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.851490	0.00563	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.76186	-1.0	4.27	0.415	0.16411	Neurotransmitter-gated ion-channel transmembrane domain (2);	9.158020	0.00166	N	0.000000	T	0.56411	0.1983	N	0.12182	0.205	0.09310	N	1	B;B	0.24317	0.101;0.002	B;B	0.26416	0.069;0.004	T	0.47787	-0.9090	10	0.08381	T	0.77	.	8.196	0.31396	0.1748:0.1329:0.6923:0.0	.	442;513	Q4VAQ5;P43681	.;ACHA4_HUMAN	S	419;513;442	ENSP00000359285:R513S	ENSP00000359280:R419S	R	-	1	0	CHRNA4	61451670	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.356000	0.20181	0.244000	0.21351	-0.186000	0.12905	CGC		PASS	0.687	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			6	19	6	19	---	---	---	---
ARFRP1	10139	broad.mit.edu	37	20	62337709	62337709	+	Splice_Site	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr20:62337709C>A	ENST00000359715.5	-	3	830	c.264G>T	c.(262-264)aaG>aaT	p.K88N	ZGPAT_ENST00000328969.5_5'Flank|ARFRP1_ENST00000440854.1_Splice_Site_p.K88N|ZGPAT_ENST00000369967.3_5'Flank|ZGPAT_ENST00000448100.2_5'Flank|RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000324228.2_Splice_Site_p.K88N|ARFRP1_ENST00000607873.1_Splice_Site_p.K41N|ARFRP1_ENST00000609142.1_Splice_Site_p.K88N|ZGPAT_ENST00000355969.6_5'Flank|ZGPAT_ENST00000357119.4_5'Flank			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	88					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K88N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			GGAGTCTTACCTTGTCCCACA	0.592																																						uc002yga.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(262-264)AAG>AAT		ADP-ribosylation factor related protein 1							133.0	112.0	119.0					20																	62337709		2203	4300	6503	SO:0001630	splice_region_variant	10139				small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity	g.chr20:62337709C>A	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.264+1G>T	20.37:g.62337709C>A						ARFRP1_uc002ygc.2_Missense_Mutation_p.K88N|ARFRP1_uc002ygh.3_Missense_Mutation_p.K88N|ARFRP1_uc011abf.1_Missense_Mutation_p.K88N|ARFRP1_uc011abg.1_Missense_Mutation_p.K88N|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.K88N|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank	p.K88N	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)		3	831	-	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		88					B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation	SNP	ENST00000359715.5	37	c.264G>T	CCDS13533.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873685	0.72180	.	.	ENSG00000101246	ENST00000440854;ENST00000359715;ENST00000324228;ENST00000424545;ENST00000303260	T;T;T	0.62498	0.02;0.02;0.02	5.04	5.04	0.67666	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	L	0.31926	0.97	0.80722	D	1	D;P	0.76494	0.999;0.867	D;P	0.85130	0.997;0.794	T	0.67684	-0.5607	9	.	.	.	-11.6542	15.5282	0.75928	0.0:1.0:0.0:0.0	.	88;88	B3KTR4;Q13795	.;ARFRP_HUMAN	N	88;88;88;57;77	ENSP00000403942:K88N;ENSP00000352746:K88N;ENSP00000326884:K88N	.	K	-	3	2	ARFRP1	61808153	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.131000	0.57970	2.329000	0.79093	0.462000	0.41574	AAG		PASS	0.592	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1		Missense_Mutation	114	204	114	204	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10908860	10908860	+	Silent	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr21:10908860G>A	ENST00000361285.4	-	23	1814	c.1485C>T	c.(1483-1485)taC>taT	p.Y495Y	TPTE_ENST00000298232.7_Silent_p.Y477Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.Y457Y	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	495	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.Y495Y(1)|p.Y477Y(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)		GCAACCAGAAGTAAAATGAGC	0.284																																						uc002yip.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1483-1485)TAC>TAT		transmembrane phosphatase with tensin homology							129.0	120.0	123.0					21																	10908860		2202	4297	6499	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10908860G>A	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.1485C>T	21.37:g.10908860G>A						TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.Y477Y|TPTE_uc002yir.1_Silent_p.Y457Y|TPTE_uc010gkv.1_Silent_p.Y357Y	p.Y495Y	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)	23	1853	-			495			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.1485C>T	CCDS13560.2																																																																																				PASS	0.284	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			9	38	9	38	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15554171	15554171	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr21:15554171G>T	ENST00000536861.1	-	4	550	c.551C>A	c.(550-552)cCt>cAt	p.P184H	LIPI_ENST00000344577.2_Missense_Mutation_p.P205H			Q6XZB0	LIPI_HUMAN	lipase, member I	184					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.P205H(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)		TGGCCCAGCAGGGTCAAGACC	0.398																																						uc002yjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(613-615)CCT>CAT		lipase, member I							79.0	75.0	77.0					21																	15554171		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15554171G>T	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.551C>A	21.37:g.15554171G>T	ENSP00000440381:p.Pro184His					LIPI_uc010gkw.1_Missense_Mutation_p.P138H	p.P205H	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	624	-			184					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.614C>A		.	.	.	.	.	.	.	.	.	.	G	17.71	3.457274	0.63401	.	.	ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981	D;D	0.94897	-3.55;-3.55	5.46	5.46	0.80206	.	0.051203	0.85682	D	0.000000	D	0.98582	0.9526	H	0.98466	4.24	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99449	1.0940	10	0.87932	D	0	.	19.3027	0.94149	0.0:0.0:1.0:0.0	.	184;205	G1JSG6;Q6XZB0-2	.;.	H	205;184;79	ENSP00000343331:P205H;ENSP00000440381:P184H	ENSP00000343331:P205H	P	-	2	0	LIPI	14476042	1.000000	0.71417	0.971000	0.41717	0.412000	0.31113	8.714000	0.91412	2.733000	0.93635	0.655000	0.94253	CCT		PASS	0.398	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		36	78	36	78	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19737474	19737474	+	Silent	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr21:19737474G>T	ENST00000284885.3	-	7	789	c.756C>A	c.(754-756)gtC>gtA	p.V252V		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	252	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.V252V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCCACTGGCAGACAACACTTG	0.368																																						uc002ykw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(754-756)GTC>GTA		enterokinase precursor							146.0	140.0	142.0					21																	19737474		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19737474G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.756C>A	21.37:g.19737474G>T							p.V252V	NM_002772	NP_002763	P98073	ENTK_HUMAN			7	787	-			252			Extracellular (Potential).|CUB 1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.756C>A	CCDS13571.1																																																																																				PASS	0.368	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		135	186	135	186	---	---	---	---
MRAP	56246	broad.mit.edu	37	21	33678949	33678949	+	Splice_Site	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr21:33678949A>G	ENST00000399784.2	+	4	293		c.e4-1		MRAP_ENST00000399786.3_Splice_Site|AP000266.7_ENST00000450936.1_RNA|MRAP_ENST00000339944.4_Splice_Site|MRAP_ENST00000497833.1_Splice_Site|MRAP_ENST00000303645.5_Splice_Site	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein						brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)	p.?(2)		endometrium(1)|large_intestine(2)|lung(3)	6						CTCCTCCCGCAGATTCCATCG	0.567																																						uc002ypj.2																			2	Unknown(2)		lung(2)		0						c.e4-2		melanocortin 2 receptor accessory protein							144.0	106.0	119.0					21																	33678949		2203	4300	6503	SO:0001630	splice_region_variant	56246				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr21:33678949A>G	AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.107-1A>G	21.37:g.33678949A>G						MRAP_uc002ypk.2_Splice_Site_p.H36_splice|MRAP_uc011ado.1_Splice_Site|MRAP_uc002ypl.2_Splice_Site_p.H36_splice|uc002ypm.2_RNA	p.H36_splice	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN			4	294	+								Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Splice_Site	SNP	ENST00000399784.2	37	c.107_splice	CCDS13613.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.919263	0.33908	.	.	ENSG00000170262	ENST00000399784;ENST00000399786;ENST00000303645;ENST00000339944	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.29	0.54812	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRAP	32600820	1.000000	0.71417	0.955000	0.39395	0.214000	0.24535	5.634000	0.67833	2.140000	0.66376	0.533000	0.62120	.		PASS	0.567	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000193092.1	NM_178817	Intron	83	60	83	60	---	---	---	---
SIM2	6493	broad.mit.edu	37	21	38115753	38115753	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr21:38115753C>T	ENST00000290399.6	+	9	1677	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	SIM2_ENST00000430056.3_Missense_Mutation_p.S355F	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	355	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|signal transducer activity (GO:0004871)	p.S355F(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TCCCAGGACTCCTGGAGGACC	0.512																																						uc002yvr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1063-1065)TCC>TTC		single-minded homolog 2 long isoform							127.0	131.0	130.0					21																	38115753		2203	4300	6503	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38115753C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1064C>T	21.37:g.38115753C>T	ENSP00000290399:p.Ser355Phe					SIM2_uc002yvq.2_Missense_Mutation_p.S355F	p.S355F	NM_005069	NP_005060	Q14190	SIM2_HUMAN			9	1120	+			355			Single-minded C-terminal.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.1064C>T	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973886	0.34848	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.07444	3.19;3.22	4.49	3.58	0.41010	Single-minded, C-terminal (1);	0.261790	0.26163	N	0.025978	T	0.11537	0.0281	M	0.63843	1.955	0.32162	N	0.582744	B;P	0.36354	0.086;0.549	B;B	0.34722	0.035;0.188	T	0.05131	-1.0904	10	0.51188	T	0.08	.	14.4897	0.67642	0.0:0.8516:0.1484:0.0	.	355;355	Q14190;Q14190-2	SIM2_HUMAN;.	F	355	ENSP00000290399:S355F;ENSP00000404176:S355F	ENSP00000290399:S355F	S	+	2	0	SIM2	37037623	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.434000	0.59935	0.950000	0.37743	0.462000	0.41574	TCC		PASS	0.512	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		128	23	128	23	---	---	---	---
KCNJ15	3772	broad.mit.edu	37	21	39671448	39671448	+	Missense_Mutation	SNP	G	G	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr21:39671448G>A	ENST00000328656.4	+	4	568	c.265G>A	c.(265-267)Gcg>Acg	p.A89T	KCNJ15_ENST00000398938.2_Missense_Mutation_p.A89T|KCNJ15_ENST00000398932.1_Missense_Mutation_p.A89T|KCNJ15_ENST00000398934.1_Missense_Mutation_p.A89T|KCNJ15_ENST00000398930.1_Missense_Mutation_p.A89T	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	89					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.A89T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CTATGCCATCGCGTTTATTCA	0.478																																						uc002ywv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						c.(265-267)GCG>ACG		potassium inwardly-rectifying channel J15							132.0	125.0	128.0					21																	39671448		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671448G>A	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.265G>A	21.37:g.39671448G>A	ENSP00000331698:p.Ala89Thr					KCNJ15_uc002yww.2_Missense_Mutation_p.A89T|KCNJ15_uc002ywx.2_Missense_Mutation_p.A89T	p.A89T	NM_002243	NP_002234	Q99712	IRK15_HUMAN			4	567	+			89			Extracellular (By similarity).		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.265G>A	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596152	0.46318	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	5.0	5.0	0.66597	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.060194	0.64402	D	0.000004	D	0.98201	0.9405	M	0.85859	2.78	0.58432	D	0.999992	D	0.89917	1.0	D	0.74348	0.983	D	0.98655	1.0681	9	.	.	.	.	18.6545	0.91445	0.0:0.0:1.0:0.0	.	89	Q99712	IRK15_HUMAN	T	89	ENSP00000331698:A89T;ENSP00000381902:A89T;ENSP00000381911:A89T;ENSP00000381905:A89T;ENSP00000414487:A89T;ENSP00000381904:A89T;ENSP00000381907:A89T;ENSP00000381901:A89T;ENSP00000400849:A89T	.	A	+	1	0	KCNJ15	38593318	1.000000	0.71417	0.104000	0.21259	0.059000	0.15707	7.809000	0.86057	2.485000	0.83878	0.563000	0.77884	GCG		PASS	0.478	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		11	138	11	138	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G	rs527413251		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					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.P140P(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)					ACCACCCACCAGAACAGCGTG	0.542													a|||	1	0.000199681	0.0	0.0	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.001					uc002zji.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(418-420)CCA>CCG		pericentrin							180.0	120.0	140.0					21																	47754463		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754463A>G	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.420A>G	21.37:g.47754463A>G						PCNT_uc002zjj.2_Silent_p.P22P|PCNT_uc010gqk.1_RNA	p.P140P	NM_006031	NP_006022	O95613	PCNT_HUMAN			3	527	+	Breast(49;0.112)		140					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.420A>G	CCDS33592.1																																																																																				PASS	0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		4	65	4	65	---	---	---	---
KREMEN1	83999	broad.mit.edu	37	22	29538035	29538035	+	Missense_Mutation	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr22:29538035A>G	ENST00000407188.1	+	9	1357	c.1357A>G	c.(1357-1359)Atc>Gtc	p.I453V	KREMEN1_ENST00000400338.2_Missense_Mutation_p.I455V|KREMEN1_ENST00000479755.1_3'UTR|KREMEN1_ENST00000327813.5_Missense_Mutation_p.I455V|KREMEN1_ENST00000400335.4_Missense_Mutation_p.I438V			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	453					cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.I455V(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TTCAATTTCCATCTTTAAGAA	0.478																																						uc011akm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(1363-1365)ATC>GTC		kringle-containing transmembrane protein 1							73.0	72.0	72.0					22																	29538035		1868	4099	5967	SO:0001583	missense	83999				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29538035A>G	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.1357A>G	22.37:g.29538035A>G	ENSP00000385431:p.Ile453Val					KREMEN1_uc003ael.2_Missense_Mutation_p.I438V|KREMEN1_uc011akn.1_Missense_Mutation_p.I338V	p.I455V	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN			9	1376	+			453			Cytoplasmic (Potential).		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	c.1363A>G	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934903	0.52866	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.62232	0.04;0.07;0.07;0.07	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000007	T	0.49712	0.1573	N	0.24115	0.695	0.43296	D	0.995286	B;P;B	0.38597	0.447;0.639;0.408	B;B;B	0.36959	0.103;0.237;0.124	T	0.57069	-0.7874	10	0.72032	D	0.01	.	14.0205	0.64550	1.0:0.0:0.0:0.0	.	453;455;438	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	V	438;455;455;453	ENSP00000383189:I438V;ENSP00000383192:I455V;ENSP00000331242:I455V;ENSP00000385431:I453V	ENSP00000331242:I455V	I	+	1	0	KREMEN1	27868035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.269000	0.58890	2.254000	0.74563	0.533000	0.62120	ATC		PASS	0.478	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			76	145	76	145	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40825653	40825653	+	Silent	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr22:40825653C>T	ENST00000355630.3	-	7	848	c.258G>A	c.(256-258)aaG>aaA	p.K86K	MKL1_ENST00000402042.1_Silent_p.K86K|MKL1_ENST00000396617.3_Silent_p.K86K|MKL1_ENST00000407029.1_Silent_p.K86K|MKL1_ENST00000402630.1_Silent_p.K86K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	86	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.K86K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GAAGGATGTTCTTCTCCACCA	0.582			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(256-258)AAG>AAA		megakaryoblastic leukemia 1 protein							121.0	106.0	111.0					22																	40825653		2203	4300	6503	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40825653C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.258G>A	22.37:g.40825653C>T						MKL1_uc003ayw.1_Silent_p.K86K|MKL1_uc010gye.1_Silent_p.K86K|MKL1_uc010gyf.1_Silent_p.K86K	p.K86K	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			4	465	-			86			RPEL 2.|Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.258G>A	CCDS14003.1																																																																																				PASS	0.582	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		45	120	45	120	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41565527	41565527	+	Missense_Mutation	SNP	T	T	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr22:41565527T>C	ENST00000263253.7	+	26	5412	c.4193T>C	c.(4192-4194)cTc>cCc	p.L1398P	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1398	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.L1398P(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATATCTTACCTCGATAGTGTT	0.343			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4192-4194)CTC>CCC		E1A binding protein p300							95.0	90.0	92.0					22																	41565527		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565527T>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4193T>C	22.37:g.41565527T>C	ENSP00000263253:p.Leu1398Pro						p.L1398P	NM_001429	NP_001420	Q09472	EP300_HUMAN			26	4588	+			1398					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4193T>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968709	0.74131	.	.	ENSG00000100393	ENST00000263253	D	0.94723	-3.5	5.55	5.55	0.83447	.	0.000000	0.40908	D	0.000981	D	0.98185	0.9400	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99593	1.0976	10	0.87932	D	0	-8.5643	15.6988	0.77521	0.0:0.0:0.0:1.0	.	1398	Q09472	EP300_HUMAN	P	1398	ENSP00000263253:L1398P	ENSP00000263253:L1398P	L	+	2	0	EP300	39895473	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.953000	0.87836	2.115000	0.64714	0.455000	0.32223	CTC		PASS	0.343	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		138	202	138	202	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51160645	51160645	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr22:51160645C>A	ENST00000414786.2	+	21	4569	c.4342C>A	c.(4342-4344)Cgc>Agc	p.R1448S	SHANK3_ENST00000445220.2_Missense_Mutation_p.R1464S|SHANK3_ENST00000262795.3_Missense_Mutation_p.R1478S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1462					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R1478S(1)|p.R571S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CGGGCCTGCCCGCCCTCGCTA	0.682																																						uc003bne.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(4432-4434)CGC>AGC		SH3 and multiple ankyrin repeat domains 3							11.0	14.0	13.0					22																	51160645		1931	4071	6002	SO:0001583	missense	85358							g.chr22:51160645C>A	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4342C>A	22.37:g.51160645C>A	ENSP00000464552:p.Arg1448Ser					SHANK3_uc003bnf.1_Missense_Mutation_p.R925S|SHANK3_uc010hbg.1_Missense_Mutation_p.R660S	p.R1478S	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	22	4432	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1478					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.4432C>A		.	.	.	.	.	.	.	.	.	.	C	19.38	3.817209	0.70912	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.37411	1.2;1.21	5.43	5.43	0.79202	.	0.109672	0.64402	D	0.000020	T	0.46658	0.1404	M	0.65975	2.015	0.37570	D	0.919401	D;P;D	0.57899	0.958;0.918;0.981	P;B;P	0.52481	0.658;0.43;0.7	T	0.45716	-0.9242	10	0.09338	T	0.73	.	16.7401	0.85457	0.0:1.0:0.0:0.0	.	1462;1463;1478	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	S	1478;1464	ENSP00000442518:R1478S;ENSP00000446078:R1464S	ENSP00000442518:R1478S	R	+	1	0	SHANK3	49507511	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.261000	0.65496	2.553000	0.86117	0.563000	0.77884	CGC		PASS	0.682	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		17	27	17	27	---	---	---	---
CRLF2	64109	broad.mit.edu	37	X	1325342	1325342	+	Silent	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:1325342G>T	ENST00000381567.3	-	3	332	c.333C>A	c.(331-333)cgC>cgA	p.R111R	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Silent_p.R111R	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	111					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.R111R(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)				AAACCATCCAGCGACTTGCGG	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 - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(7)	7								Homo sapiens mRNA for IL-XR, complete cds.							213.0	206.0	208.0					X																	1325342		1960	4132	6092	SO:0001819	synonymous_variant	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1325342G>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.333C>A	X.37:g.1325342G>T										Q9HC73	CRLF2_HUMAN			3		-		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.333C>A																																																																																					PASS	0.488	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		78	133	78	133	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17745612	17745612	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:17745612C>T	ENST00000380060.3	+	6	3661	c.3323C>T	c.(3322-3324)cCg>cTg	p.P1108L	NHS_ENST00000398097.3_Missense_Mutation_p.P952L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1129					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P1108L(1)|p.P952L(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AATCCTCCACCGTCCCTTGCA	0.408													C|||	1	0.000264901	0.0	0.0	3775	,	,		15500	0.0		0.0	False		,,,				2504	0.001					uc004cxx.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(3322-3324)CCG>CTG		Nance-Horan syndrome protein isoform 1							134.0	128.0	130.0					X																	17745612		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745612C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3323C>T	X.37:g.17745612C>T	ENSP00000369400:p.Pro1108Leu					NHS_uc011mix.1_Missense_Mutation_p.P1129L|NHS_uc004cxy.2_Missense_Mutation_p.P952L|NHS_uc004cxz.2_Missense_Mutation_p.P931L|NHS_uc004cya.2_Missense_Mutation_p.P831L	p.P1108L	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	3661	+	Hepatocellular(33;0.183)		1108					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3323C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482264	0.44147	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.44881	0.91;0.91	5.94	5.94	0.96194	.	0.321380	0.37304	N	0.002145	T	0.58949	0.2158	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;P	0.76494	0.999;0.999;0.999;0.948	P;P;P;B	0.59825	0.864;0.864;0.864;0.24	T	0.59473	-0.7448	10	0.66056	D	0.02	-15.1033	19.3108	0.94187	0.0:1.0:0.0:0.0	.	1129;950;952;1108	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	L	1108;952;950	ENSP00000369400:P1108L;ENSP00000381170:P952L	ENSP00000369397:P950L	P	+	2	0	NHS	17655533	0.796000	0.28864	0.633000	0.29310	0.296000	0.27459	3.591000	0.53986	2.513000	0.84729	0.544000	0.68410	CCG		PASS	0.408	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		123	18	123	18	---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37642781	37642781	+	Silent	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:37642781G>C	ENST00000378588.4	+	3	247	c.180G>C	c.(178-180)ctG>ctC	p.L60L	CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Silent_p.L28L|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	60	Ferric oxidoreductase.				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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.L60L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CAGCCTGCCTGAATTTCAACT	0.517																																						uc004ddr.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(178-180)CTG>CTC		cytochrome b-245 beta polypeptide							85.0	69.0	74.0					X																	37642781		2202	4300	6502	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37642781G>C	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.180G>C	X.37:g.37642781G>C						CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Silent_p.L28L|CYBB_uc011mkg.1_5'UTR	p.L60L	NM_000397	NP_000388	P04839	CY24B_HUMAN			3	241	+			60			Helical; (Potential).|Ferric oxidoreductase.		A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.180G>C	CCDS14242.1																																																																																				PASS	0.517	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			57	12	57	12	---	---	---	---
DUSP21	63904	broad.mit.edu	37	X	44703624	44703624	+	Silent	SNP	C	C	T	rs369441582		TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:44703624C>T	ENST00000339042.4	+	1	376	c.246C>T	c.(244-246)taC>taT	p.Y82Y		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	82	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y82Y(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGCGTCTCTACGACTTTTTTG	0.542																																						uc004dgd.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	large_intestine(1)|lung(1)	2						c.(244-246)TAC>TAT		dual specificity phosphatase 21		C		0,3835		0,0,1632,571	187.0	147.0	161.0		246	-2.1	0.0	X		161	1,6727		0,1,2427,1872	no	coding-synonymous	DUSP21	NM_022076.3		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		82/191	44703624	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703624C>T	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.246C>T	X.37:g.44703624C>T							p.Y82Y	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			1	376	+			82			Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).		Q0VDA6|Q6IAJ6|Q6YDQ8	Silent	SNP	ENST00000339042.4	37	c.246C>T	CCDS14264.1																																																																																				PASS	0.542	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		72	11	72	11	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54784798	54784798	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:54784798C>T	ENST00000218436.6	-	8	1738	c.1709G>A	c.(1708-1710)gGa>gAa	p.G570E		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	570					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G570E(1)									CAGCAGTTCTCCAATGGTGAC	0.587																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(1708-1710)GGA>GAA		inter-alpha (globulin) inhibitor H5-like							35.0	29.0	31.0					X																	54784798		2203	4299	6502	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784798C>T	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.1709G>A	X.37:g.54784798C>T	ENSP00000218436:p.Gly570Glu						p.G570E	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	1739	-			570					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1709G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	4.946	0.175821	0.09443	.	.	ENSG00000102313	ENST00000218436	T	0.26660	1.72	3.9	2.84	0.33178	.	0.649619	0.14379	U	0.323264	T	0.10508	0.0257	N	0.11313	0.125	0.25193	N	0.990111	B	0.15719	0.014	B	0.10450	0.005	T	0.26780	-1.0093	10	0.16420	T	0.52	.	3.2758	0.06898	0.0:0.462:0.0:0.5379	.	570	Q6UXX5	ITH5L_HUMAN	E	570	ENSP00000218436:G570E	ENSP00000218436:G570E	G	-	2	0	ITIH5L	54801523	1.000000	0.71417	0.237000	0.24090	0.014000	0.08584	1.711000	0.37930	1.531000	0.49152	0.597000	0.82753	GGA		PASS	0.587	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		35	3	35	3	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67938352	67938352	+	Missense_Mutation	SNP	C	C	A			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:67938352C>A	ENST00000252336.6	+	5	1728	c.1356C>A	c.(1354-1356)gaC>gaA	p.D452E	STARD8_ENST00000374599.3_Missense_Mutation_p.D532E|STARD8_ENST00000374597.3_Missense_Mutation_p.D452E	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	452					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.D452E(2)|p.D532E(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCGAACTTGACAGTAGTGGGA	0.597																																						uc004dxa.2																			3	Substitution - Missense(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(1354-1356)GAC>GAA		StAR-related lipid transfer (START) domain							51.0	41.0	44.0					X																	67938352		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67938352C>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1356C>A	X.37:g.67938352C>A	ENSP00000252336:p.Asp452Glu					STARD8_uc004dxb.2_Missense_Mutation_p.D532E|STARD8_uc004dxc.3_Missense_Mutation_p.D452E	p.D452E	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	1728	+			452					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1356C>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	5.588	0.293282	0.10567	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07444	3.19;3.19;3.19	4.98	2.26	0.28386	.	0.422877	0.23995	N	0.042540	T	0.05593	0.0147	L	0.37561	1.115	0.41574	D	0.988702	B;B	0.12013	0.005;0.003	B;B	0.17098	0.017;0.007	T	0.39583	-0.9607	10	0.13470	T	0.59	.	4.447	0.11602	0.0:0.5506:0.1612:0.2882	.	532;452	Q92502-2;Q92502	.;STAR8_HUMAN	E	452;532;452	ENSP00000252336:D452E;ENSP00000363727:D532E;ENSP00000363725:D452E	ENSP00000252336:D452E	D	+	3	2	STARD8	67855077	0.124000	0.22315	0.952000	0.39060	0.593000	0.36681	-0.641000	0.05434	0.054000	0.16065	-0.192000	0.12808	GAC		PASS	0.597	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		43	0	43	0	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91873458	91873458	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:91873458G>T	ENST00000373094.1	+	7	4408	c.3563G>T	c.(3562-3564)cGa>cTa	p.R1188L	PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1151L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1151L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1178L|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1170L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1180L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1188					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1188L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACAGCCCACGAGTGACACAG	0.592																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3562-3564)CGA>CTA		protocadherin 11 X-linked isoform c							245.0	185.0	206.0					X																	91873458		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873458G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3563G>T	X.37:g.91873458G>T	ENSP00000362186:p.Arg1188Leu					PCDH11X_uc004efl.1_Missense_Mutation_p.R1178L|PCDH11X_uc004efo.1_Missense_Mutation_p.R1151L|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.R1180L|PCDH11X_uc004efn.1_Missense_Mutation_p.R1170L	p.R1188L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4408	+			1188			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3563G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	0.255	-1.003451	0.02128	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.51071	0.74;0.75;0.73;0.73;0.76;0.72	3.39	2.53	0.30540	.	.	.	.	.	T	0.25419	0.0618	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.17531	-1.0366	9	0.46703	T	0.11	.	6.0318	0.19684	0.0:0.6912:0.1906:0.1182	.	1151;1170;1180;1178;1188	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	L	1188;1178;1151;1170;1180;1188;1151	ENSP00000362186:R1188L;ENSP00000362189:R1178L;ENSP00000362180:R1151L;ENSP00000355105:R1170L;ENSP00000384758:R1180L;ENSP00000298274:R1151L	ENSP00000298274:R1151L	R	+	2	0	PCDH11X	91760114	0.000000	0.05858	0.001000	0.08648	0.347000	0.29111	0.174000	0.16743	0.303000	0.22785	-0.344000	0.07964	CGA		PASS	0.592	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		116	21	116	21	---	---	---	---
TEX13B	56156	broad.mit.edu	37	X	107225170	107225170	+	Missense_Mutation	SNP	A	A	G			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:107225170A>G	ENST00000302917.1	-	2	280	c.188T>C	c.(187-189)gTc>gCc	p.V63A		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	63								p.V63A(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGCCTCTTTGACCTCGCTGGG	0.597																																						uc004enn.1																			2	Substitution - Missense(2)		prostate(1)|lung(1)	ovary(1)	1						c.(187-189)GTC>GCC		testis expressed 13B							88.0	83.0	85.0					X																	107225170		2199	4300	6499	SO:0001583	missense	56156							g.chrX:107225170A>G	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.188T>C	X.37:g.107225170A>G	ENSP00000303777:p.Val63Ala						p.V63A	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			2	281	-			63					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.188T>C	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	A	0.899	-0.722879	0.03158	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.28	-0.343	0.12632	.	.	.	.	.	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	B	0.28713	0.22	B	0.25140	0.058	T	0.18999	-1.0319	8	0.33141	T	0.24	.	5.766	0.18227	0.5936:0.0:0.4064:0.0	.	63	Q9BXU2	TX13B_HUMAN	A	63	.	ENSP00000303777:V63A	V	-	2	0	TEX13B	107111826	0.723000	0.28027	0.027000	0.17364	0.013000	0.08279	0.127000	0.15790	-0.187000	0.10516	-0.404000	0.06349	GTC		PASS	0.597	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			120	11	120	11	---	---	---	---
C1GALT1C1	29071	broad.mit.edu	37	X	119760819	119760819	+	Missense_Mutation	SNP	C	C	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:119760819C>T	ENST00000304661.5	-	2	441	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.R68Q	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	68					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R68Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						ACAGTATACTCGAAAGCTCTT	0.423																																						uc004esy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)CGA>CAA		C1GALT1-specific chaperone 1							115.0	99.0	104.0					X																	119760819		2203	4300	6503	SO:0001583	missense	29071					integral to membrane		g.chrX:119760819C>T	AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.203G>A	X.37:g.119760819C>T	ENSP00000304364:p.Arg68Gln					C1GALT1C1_uc004esz.2_Missense_Mutation_p.R68Q	p.R68Q	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN			3	550	-			68			Lumenal (Potential).		A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	ENST00000304661.5	37	c.203G>A	CCDS14602.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775508	0.31411	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.55234	0.53;0.53	5.76	2.05	0.26809	.	0.244896	0.42682	N	0.000663	T	0.45094	0.1325	L	0.61387	1.9	0.47009	D	0.999288	B	0.15141	0.012	B	0.13407	0.009	T	0.22103	-1.0226	9	.	.	.	-15.6804	8.6571	0.34071	0.0:0.6131:0.0:0.3869	.	68	Q96EU7	C1GLC_HUMAN	Q	68	ENSP00000304364:R68Q;ENSP00000360363:R68Q	.	R	-	2	0	C1GALT1C1	119644847	0.242000	0.23868	0.739000	0.30968	0.938000	0.57974	0.864000	0.27926	-0.026000	0.13895	0.544000	0.68410	CGA		PASS	0.423	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058117.1	NM_152692		91	11	91	11	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144905786	144905786	+	Missense_Mutation	SNP	G	G	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:144905786G>C	ENST00000370490.1	+	1	6098	c.1843G>C	c.(1843-1845)Gaa>Caa	p.E615Q	SLITRK2_ENST00000447897.2_Missense_Mutation_p.E615Q|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E615Q|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E615Q|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E615Q			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	615					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E615Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACTACACACTGAAGTTCCACT	0.433																																						uc004fcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1843-1845)GAA>CAA		SLIT and NTRK-like family, member 2 precursor							118.0	82.0	94.0					X																	144905786		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905786G>C	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1843G>C	X.37:g.144905786G>C	ENSP00000359521:p.Glu615Gln					SLITRK2_uc010nsp.2_Missense_Mutation_p.E615Q|SLITRK2_uc010nso.2_Missense_Mutation_p.E615Q|SLITRK2_uc011mwq.1_Missense_Mutation_p.E615Q|SLITRK2_uc011mwr.1_Missense_Mutation_p.E615Q|SLITRK2_uc011mws.1_Missense_Mutation_p.E615Q|SLITRK2_uc004fcg.2_Missense_Mutation_p.E615Q|SLITRK2_uc011mwt.1_Missense_Mutation_p.E615Q	p.E615Q	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2833	+	Acute lymphoblastic leukemia(192;6.56e-05)		615			Extracellular (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1843G>C	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825943	0.71143	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52754	0.69;0.65;0.65;0.65;0.65;0.65	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	L	0.44542	1.39	0.58432	D	0.999998	P	0.50710	0.938	P	0.50136	0.632	T	0.45877	-0.9231	10	0.37606	T	0.19	-8.938	15.6962	0.77502	0.0:0.0:1.0:0.0	.	615	Q9H156	SLIK2_HUMAN	Q	615	ENSP00000334374:E615Q;ENSP00000411681:E615Q;ENSP00000359521:E615Q;ENSP00000397015:E615Q;ENSP00000407347:E615Q;ENSP00000412010:E615Q	ENSP00000334374:E615Q	E	+	1	0	SLITRK2	144713478	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.164000	0.94755	2.302000	0.77476	0.600000	0.82982	GAA		PASS	0.433	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		99	6	99	6	---	---	---	---
SPRY3	10251	broad.mit.edu	37	X	155003826	155003826	+	Missense_Mutation	SNP	G	G	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chrX:155003826G>T	ENST00000302805.2	+	2	724	c.293G>T	c.(292-294)aGg>aTg	p.R98M		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	98					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R98M(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTGATCAAAGGCTCTTGGCC	0.557																																						uc004fnq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)AGG>ATG		sprouty homolog 3							191.0	161.0	171.0					X																	155003826		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003826G>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.293G>T	X.37:g.155003826G>T	ENSP00000302978:p.Arg98Met					SPRY3_uc010nvl.1_Intron	p.R98M	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	747	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		98					A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.293G>T	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371372	0.42003	.	.	ENSG00000168939	ENST00000302805	T	0.59772	0.24	3.14	3.14	0.36123	.	0.000000	0.64402	D	0.000001	T	0.67590	0.2909	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.59703	0.862	T	0.59752	-0.7395	9	0.62326	D	0.03	-20.685	11.3539	0.49605	0.0:0.0:1.0:0.0	.	98	O43610	SPY3_HUMAN	M	98	ENSP00000302978:R98M	ENSP00000302978:R98M	R	+	2	0	SPRY3	154657020	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.267000	0.78462	1.593000	0.50029	0.279000	0.19357	AGG		PASS	0.557	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		76	119	76	119	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55607343	55607344	+	Frame_Shift_Ins	INS	-	-	T			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr1:55607343_55607344insT	ENST00000294383.6	-	24	2694_2695	c.2695_2696insA	c.(2695-2697)atgfs	p.M899fs	USP24_ENST00000407756.1_Frame_Shift_Ins_p.M739fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	899					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGCTGTAAGCATTTTTGTTGCT	0.431																																						uc001cyg.3																			0				ovary(6)|kidney(6)|breast(1)	13						c.(2215-2217)ATGfs		ubiquitin specific protease 24																																				SO:0001589	frameshift_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55607343_55607344insT	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2696dupA	1.37:g.55607348_55607348dupT	ENSP00000294383:p.Met899fs						p.M739fs	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			21	2215_2216	-			899					Q6ZSY2|Q8N2Y4|Q9NXD1	Frame_Shift_Ins	INS	ENST00000294383.6	37	c.2215_2216insA	CCDS44154.2																																																																																					0.431	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			15	9	15	9	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33626408	33626418	+	Splice_Site	DEL	ACCAGCTGAAC	ACCAGCTGAAC	-			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:33626408_33626418delACCAGCTGAAC	ENST00000468888.2	-	22	2118_2122	c.2072_2076delGTTCAGCTGGT	c.(2071-2076)cgttca>c	p.RS691fs	CLASP2_ENST00000307312.7_Splice_Site_p.RS179fs|CLASP2_ENST00000539981.1_Splice_Site_p.GS460fs|CLASP2_ENST00000359576.5_Splice_Site_p.RS690fs|CLASP2_ENST00000399362.4_Splice_Site_p.RS690fs|CLASP2_ENST00000480013.1_Splice_Site_p.RS457fs|CLASP2_ENST00000461133.3_Splice_Site_p.RS457fs			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	457					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAGACCGGCTACCAGCTGAACACCAAACACA	0.422																																						uc003cfu.2																			0				ovary(3)|central_nervous_system(1)	4						c.e22-1		CLIP-associating protein 2																																				SO:0001630	splice_region_variant	23122							g.chr3:33626408_33626418delACCAGCTGAAC	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2072-1GTTCAGCTGGT>-	3.37:g.33626408_33626418delACCAGCTGAAC						CLASP2_uc003cft.2_Splice_Site|CLASP2_uc010hgb.2_Splice_Site|CLASP2_uc011axt.1_Splice_Site_p.A283_splice	p.P690_splice	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			22	2423	-								Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Splice_Site	DEL	ENST00000468888.2	37	c.2069_splice																																																																																						0.422	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	Frame_Shift_Del	23	25	23	25	---	---	---	---
FOXL2	668	broad.mit.edu	37	3	138665365	138665378	+	Frame_Shift_Del	DEL	ATCGCCATGGCGAT	ATCGCCATGGCGAT	-			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr3:138665365_138665378delATCGCCATGGCGAT	ENST00000330315.3	-	1	604_617	c.187_200delATCGCCATGGCGAT	c.(187-201)atcgccatggcgatcfs	p.IAMAI63fs	C3orf72_ENST00000383165.3_5'Flank|RP11-548O1.3_ENST00000495287.1_lincRNA	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	63			I -> T (in BPES). {ECO:0000269|PubMed:16454982}.		apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						GCTCTCGCGGATCGCCATGGCGATGAGCGCCACG	0.659			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""																															uc003esw.2				Dom	yes		3	3q23	668	Mis	forkhead box L2	yes	Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III	O			granulosa-cell tumour of the ovary		0				ovary(266)|large_intestine(1)|skin(1)	268	GRCh37	CI012555|CM035546|CM061005|CM082715	FOXL2	I|M		c.(187-201)ATCGCCATGGCGATCfs		forkhead box L2																																				SO:0001589	frameshift_variant	668				convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding	g.chr3:138665365_138665378delATCGCCATGGCGAT	AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"""Forkhead boxes"""	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.187_200delATCGCCATGGCGAT	3.37:g.138665365_138665378delATCGCCATGGCGAT	ENSP00000333188:p.Ile63fs					uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	p.I63fs	NM_023067	NP_075555	P58012	FOXL2_HUMAN			1	605_618	-			63_67			Fork-head.		Q4ZGJ3	Frame_Shift_Del	DEL	ENST00000330315.3	37	c.187_200delATCGCCATGGCGAT	CCDS3105.1																																																																																					0.659	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357999.1			18	43	18	43	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176622884	176622885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-56-1622-01A-01D-1521-08	TCGA-56-1622-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bbc7ede-5022-4084-925c-d65baaf7abc2	afd79911-90ac-42a9-bfba-578d52679cb0	g.chr4:176622884_176622885insC	ENST00000280187.7	-	3	116_117	c.71_72insG	c.(70-72)ggcfs	p.G24fs	GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.G13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.G24fs|GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.G17fs	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	24					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATAGGGAATGCCCCCCAGGCA	0.431																																						uc003iuf.2																			0					0						c.(70-72)GGCfs		glycoprotein M6A isoform 2																																				SO:0001589	frameshift_variant	2823					cell surface|integral to membrane		g.chr4:176622884_176622885insC		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.72dupG	4.37:g.176622890_176622890dupC	ENSP00000280187:p.Gly24fs					GPM6A_uc011ckj.1_Frame_Shift_Ins_p.G17fs|GPM6A_uc003iug.2_Frame_Shift_Ins_p.G24fs|GPM6A_uc003iuh.2_Frame_Shift_Ins_p.G13fs	p.G24fs	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	2	875_876	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	24			Helical; (Potential).		B7Z642|E9PHI5|Q92602	Frame_Shift_Ins	INS	ENST00000280187.7	37	c.71_72insG	CCDS3824.1																																																																																					0.431	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			44	45	44	45	---	---	---	---
